Shahid Mahmood Baig, PhD, Sitara-i-Imtiaz Born October 9, 1960, Rawalpindi, Pakistan. Permanent Address: Rawalpindi, Pakistan.ORCID: https://orcid.org/0000-0002-0683-5872

Field of Specialization , Human Genomics, Biomedical Sciences, Biological Sciences, Health Biotechnology

Present Position Professor of Human Molecular Genetics, Deputy Chief Scientist, Head Health Biotechnology Division (Most productive and vital component of the organization), Group Leader Human Molecular Genetics Laboratory (HMGL), National Institute for Biotechnology and Genetic Engineering (NIBGE), PIEAS PO Box 577, Faisalabad, Pakistan. Tel:+92 41 9201316-9 Ext 241, +92 41 2551638 Direct, Fax:+92 41 9201322, Cell +923009730304 Email: shahid_baig2002@yahoo.com, baig.shahid@gmail.com, shahidbaig@nibge.org www.nibge.org

Peer Reviewed Publications: Total Publications: 110; Cumulative Impact Factor: >425Publications in the last five years (2014-19): 50 (Impact Factor: 225, 7 in 10+ Impact Factor Journals)Publications in Impact Factor Journals: 100Publications in 10+ Impact Factor: 12Publications in 5+ Impact Factor: 25 Citations in ISI web of Science: >2,000; Average citation per item: 18 H Index: 26; h Index excluding self-citations: 20; i10 index: 43LinkedIn RG Score: 39.05

Research, Mentorship and Academics Experience: >34 yearsPhD Students Mentored 37: Degree awarded; 17 (14 as primary supervisor, 03 as Co-supervisor)PhD Students Mentored (In Progress): 05; Co-supervision (working in my lab): 15 (Total: 20) MPhil Students Mentored (Degree awarded): 34 (20 as supervisor and 14 as Co-supervisor)BS (Hons) Co-supervised (Degree awarded): 30Researchers Mentored as PI in projects with external grants: 50, (ongoing): 20Postdoctoral researchers Mentored: 10; Currently supervising: 03 (Dr. Zafar, Dr. Uzma Dr. Jamil) External Research Grants International (Ongoing):04 (Pak Rs. 50 million) External Research Grants International (Completed):06 External Research Grants National (Ongoing):03 (Pak Rs. 22 million) External Research Grants National (Completed):03

Member: Academic councils, ASRB, Board of Studies and selection boards in more than 10 Universities in Islamabad, KP and Punjab (2004-present)Adjunct/Honorary Professor: Institute of Human Genetics: Hazara University Mansehra, KP

Administration and MentorshipHead Health Biotechnology Division (HBD) NIBGE: Consisting of: Deputy Chief Scientists: 02; Principal Scientists: 06; Senior Scientists: 09, Researchers: 45; Postdoc: 03, PhD students: 40; Technicians: 10; MPhil students: 10; Internees: 20. (Total strength: >150) External Research grants in HBD: Total 22: 14 National and 07 International and a PCI worth Pak Rs. 130 million for establishment of National Probiotics Laboratory (NPL)Ongoing funded research projects of >Rs. 300 million in HBD.

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PCI worth Rs. 1600 million: Establishment of National Center for Genomics (In process at PAEC) International Visiting Professorship:

1. Visiting Research Professor: Cologne Center for Genomics (CCG), Dept of Human Genetics Cologne University, Germany. Jun 2008-Present.

2. Visiting Research Professor: PANUM Institute, WJC, Institute of Cellular and Molecular Medicine, Copenhagen University, Copenhagen Denmark. Feb 2008-Present.

3. Visiting Research Professor: Department of Immunology, Genetics and Pathology, Science for Life, BMC, Uppsala University, Uppsala, Sweden. April 2007-Present.

Education Post Doctorate I: Oncogenomics Laboratory, Brain tumor research, Department of Pathology Duke University Medical Center, Duke University, Durham NC, USA. 2012 (Top 10 Medical School of US)Post Doctorate II: Molecular Biology and Genetic Engineering Unit, Department of Biochemistry, College of Science, King Saud University, Riyadh, Kingdom of Saudi Arabia. Aug 2000-Apr 2003.Ph.D. : Human Molecular Genetics, Molecular Biology, Biology Quaid-I-Azam University Islamabad, Pakistan, Research completed at Bosphorus University, Istanbul, Turkey. 1996.Title: Molecular basis of -thalassemia in Turkey and its prenatal diagnosis by DNA analysis.M.Phil. : Physiology of Reproduction: Quaid-I-Azam University, Islamabad Pakistan. 1986.Title: Studies on monkey gonadotropins and their response to LHRH.M. Sc. : Biology, Quaid-I-Azam University, Islamabad Pakistan. 1984.

Awards and Recognitions 1. Civil Award Sitara- i- Imtiaz (SI) in Biology by President of Pakistan, March 23,

2015. 2. Geers Foundation Award (Germany) for the best first author paper of the year

2011 on deafness in Nature Neuroscience. 20123. Invited Lecture: Beijing Institute of Genomics (BIG), Chinese Academy of

Sciences (CAS), Beijing China. October 11, 20174. Invited Lecture: Institute of Material Sciences Ningbo University, China,

Oct 14, 2017.5. Invited public Seminar on “Gene identification of genetic diseases in the

consanguineous Pakistani population” Nov 5, 2015 at GHM Institute of CNS Regeneration (GHMICR), Dept of Brain Research, Jinan University, P.R. China.

6. Invited Special Seminar on “Use of NGS technologies to investigate Mendelian diseases” Molecular Diagnosis of genetic diseases in the Pakistani population” Nov 3, 2015, at Beijing Genomic Institute (BGI), P.R. China.

7. Invited Special Seminar on “Molecular Diagnosis of genetic diseases in the Pakistani population” August 21, at Molecular Diagnosis Laboratory, Department of Medical Sciences, Xiamen University, Xiamen, Fujian, P.R. China.

8. Invited Special Seminar on “Gene mapping of genetic diseases in the inbred Pakistani families for carrier screening and prenatal diagnosis” Oct 23, 2012, at Nationwide Children’s Hospital, Ohio State University, Columbus Ohio, USA.

9. Award of Postdoctoral Fellowship from Oncogenomics Laboratory, Department of Pathology, Duke University Medical Center, Durham NC, USA. 2012

10. Full length research article as first author from Pakistan in Nature Neuroscience. 2011

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11. Full length research article as senior corresponding author in Nature Genetics. 2014

12. Research Productivity Award, by PCST Min of Sci and Tech. Pak. 2015-2016 (Category C)

13. Research Productivity Award, by PCST Min of Sci and Tech. Pak. 2014-2015 (Category A)

14. Research Productivity Award, by PCST Min of Sci and Tech. Pak. 2013-2014 (Category B)

15. Research Productivity Award, by PCST Min of Sci and Tech. Pak. 2012-2013 (Category G)

16. Research Productivity Award, by PCST Min of Sci and Tech. Pak. 2011-2012 (Category G)

17. Research Productivity Award, by PCST Min of Sci and Tech. Pak. 2010-2011 (Category G)

18. Gold Medal for Scientist of the Year NIBGE-PAEC 2010-1119. Best Performance Merit Certificate NIBGE-PAEC 2010-1120. Goho Life Science International Foundation Japan Award for Special Invited

Seminar and to hold research meetings at Laboratory of Genetic Skin Diseases, Niigata University Graduate School of medical and Dental Sciences for three weeks. Nov-Dec, 2011

21. DAAD fellowship as Visiting Scientist, Cologne Center for Genomics Germany. Jun-Jul 2008

22. Postdoctoral Fellowship, KACST, King Saud University, KSA. Aug 2000-Apr 2003

23. PhD Fellowship, Ministry of Education Govt. of Pakistan-Turkey. 1992-95

Key Administrative, Research and Academic Experience Professor, Deputy Chief Scientist, Head of Health Biotechnology Division and Group Leader Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan. 1st Dec. 2013-Present.Head Health Biotechnology Division, Group Leader and Principal Scientist: Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan. Dec 2003-Nov 2013.Post Doctoral Fellow I:Oncogenomics Laboratory, Brain tumor research, Department of Pathology Duke University Medical Center, Duke University, Durham NC, USA. 2012Post Doctoral Fellow II:Molecular Biology and Genetic Engineering Unit, Department of Biochemistry, College of Science, King Saud University, Riyadh, Kingdom of Saudi Arabia. Aug 2000-Apr 2003.Senior Scientist and Group Leader MPhil/PhD Faculty Member: Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Pakistan. 1995-2003.PhD Research Fellow:Department of Molecular Biology and Genetics, Bosphorus University Istanbul, Turkey. 1992-1995.Scientific Officer: Clinical Biochemistry/Radioimmunoassay, Nuclear Medicine Oncology and Radiotherapy Institute (NORI), Islamabad, Pakistan. 1987-1995.Research Scholar:Clinical Biochemistry and Radioimmunoassay, Nuclear Medicine Oncology and Radiotherapy Institute (NORI), Islamabad Pakistan. Nov 1986-Sept 1987.

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Senior Teacher:Biology, Islamabad College for Boys, G-6/3, Islamabad Pakistan. Apr-Nov 1986.Junior Research Assistant (JRA):Hormone Research Laboratory, Department of Biology, Quaid-i-Azam University, Islamabad, Pakistan. Jan 1985-Dec 1986.

Principal Investigator of External Research Grants (International)

1. Novel mechanisms, models and therapeutic targets for inherited disorders. Swedish Research Counsel. US$ 100,000. 2016-20

2. Local concerns, global genes: legal, ethical and scientific challenges in cross-national biobanking and translational exploitation. Donor: UCPH’s 2016 Funds, Copenhagen University Denmark. 2013-16.

3. Molecular basis of disturbed neurogenesis of primary microcephaly. Donor: CMMC, Cologne

University, Germany, €105,000. 2011-2019.4. Cognitive Co-morbidity. Donor: Lundbeck Foundation, Copenhagen Univ

Denmark, US$135,000. 2011-20.5. Genetic diseases in Pakistan. Donor: Uppsala University, Sweden,

US$48,000. 2013-2016.6. Genetic diseases in Pakistan. Donor: Swedish Institutes, Sweden,

US$45,000. 2009-2011.7. Pak-Danish Genetic Research Program. Donor: Copenhagen University,

Denmark. US$45,000. 2008-11.8. Collaborative Research Grant. Donor: Uppsala University, Sweden. US$

20,000. 2007-2008.

Principal Investigator of External Research Gran ts (National) 1. Elucidating the Molecular Genetic Basis of Some Neurodevelopmental

Disorders in Pakistani Population: Higher Education Commission of Pak, Rs. 8.0 Million. 2017-2020.

2. Molecular Genetics of Neurodegenerative diseases in Pakistan: Higher Education Commission of Pak, Rs. 10.0 Million. 2015-2018.

3. Molecular Genetics of Dyslexia in Pakistani families. Donor: Higher Education Commission of

Pak, Rs. 3.98 Million. 2010-2015 (Completed).4. Mutations in LDLR Gene. Donor: Pakistan Science Foundation, Pak Rs.

1.06 Million. 2007-2009 (Completed).5. HCV Genotypes in Pakistan. Donor: Pakistan Science Foundation, Pak Rs.

0.5 Million. 1998-2000 (completed).

Ongoing International Research , Collaborat ors and Joint External Research Gran ts

1. Prof. Niklas Dahl: Director, Department of Immunology, Genetics and Pathology, Science for Life, BMC,

Uppsala University, Uppsala, Sweden. Apr 2007-Present.

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2. Prof. Niels Tommerup: Director, PANUM Institute, WJC, Department of Cellular and Molecular Medicine, Copenhagen University, Copenhagen Denmark. Feb 2008-Present.

3. Prof. Peter Neurnberg: Director, Cologne Center for Genomics (CCG), Department of Human Genetics Cologne University, Germany. Jun 2007-Present.

4. Prof. Hanno J. Bolz: Director, Senckenberg Centre for Human Genetics Facharztzentrum Frankfurt-Nordend gemeinnützige GmbH, Frankfurt, Germany. 2008-Present

5. Prof. Angelika Noegel, Director, Department Biochemistry I, Center for Molecular Medicine (CMMC), Cologne University, Cologne, Germany. 2010-Present

6. Prof. Jeanette Erdmann, Director, Institute for Cardiogenetics, University of Lubeck, Germany. 2016-Present

7. Prof. Hai Yan, Director, Oncogenomics Laboratory, Duke University Medical Center, Duke University, Durham, NC, USA. 2009-Present

8. Prof. Nicholas Katsanis, Director, Center for Human Disease Modeling, Duke University Medical Center, Durham, NC USA. 2015-Present

9. Prof. Sizhen Wang, CEO, Genetron Health, Beijing, PR China. 2015-Present

10. Prof. Jianguo Zhang, Beijing Genomic Institute, CNGB Shenzhen, PR China. 2015-Present

Professional Activities Author or co-author of 110 peer-reviewed articles (several in high-impact journals; e.g. Nature Genetics, Cell Metabolism, Nature Neuroscience, J Clin Invest., Am J. Hum. Genet., Annals of Neurology, J Invest Dermatol., Hum Mol Genet, Genomic Medicine and Human Mutation etc). Author or co-author of more than 100 abstracts presented at international conferences. Has delivered more than 75 national and international invited lectures and oral presentations. Professor of Human Molecular Genetics, Head of Health Biotechnology and Group Leader of Human Molecular Genetics Research Group. Honorary Professor of Human Genetics at Hazara University, Mansehra Pakistan. Experience as PI or key researcher in several large national and international research projects. Experienced with planning and implementation of research projects, fundraising and research communication. Has established a large international network of collaborators from well-reputed research institutions in Europe, US, China and Japan. Research interests: Human Molecular Genetics, Functional Genome Research, Sensoryneural and Neurodevelopmental genetic disorders, genetic counseling and prenatal diagnosis of inherited diseases for prevention and control in consanguineous Pakistani population.

International Collaborations and Research Exchange ProgramEstablished international research collaborations with world top ranking Universities in Sweden, Denmark, Germany, USA, Japan, China and Saudi Arabia in the area of Human Molecular Genetics since 2007. Visiting these universities every year once or twice since 2007 for one to two months for discussions, seminars and meetings on ongoing collaborative research projects and to supervise PhDs and postdocs working there as Visiting Research Professor. Sent >40 PhD and Postdoc scholars of my research group form HMGL, HBD NIBGE to these laboratories for 9-48 months’ fellowships under the collaborative research projects. Dr. Muhammad Sajid Hussain and Dr. Ilyas Ahmad from my group are full time Group Leader and Postdoctoral researchers at CCG Germany under our joint research project on Primary Microcephaly (CMMC, Cologne, Germany). Dr. Muhammad Farooq who completed PhD under my supervision is a full time Postdoctoral researcher since Jul 2013 in our joint

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project on Global Genes at PANUM Institute, WJC, Department of Cellular and Molecular Medicine, Copenhagen University, Copenhagen Denmark. Dr. Ambrin Fatima from my research group is working as Postdoctoral fellow in the Stem Cells’ project at Department of Immunology, Genetics and Pathology, Science for Life, BMC, Uppsala University, Uppsala, Sweden. Dr. Tahir Naeem who completed PhD under my supervision is currently working as postdoctoral fellow at DCHDM Duke University USA and three of my PhD students Kamal Khan, Farid Ullah and Ayaz Khan are also there as a guest students in the same group in a project of mutual interest. A PhD student and two professors from Copenhagen University Denmark have visited HMGL, HBD NIBGE for two weeks in April 2014 to conduct collaborative research work. A Danish PhD scholar from Copenhagen University Denmark completed a part of her PhD at HMGL NIBGE (Dec. 2015 – Jan 2016). She visited NIBGE again for two months (March-April 2017) to accomplish the next part of her PhD research. A postdoctoral fellow from Copenhagen University will visit NIBGE in 2019 as a guest researcher.

International invited S cientific and Academic Visits

Invited Speaker and Visiting Scientist: The Eye and ENT Hospital, Fudan University, Shanghai China. January 26-30, 2019. Invited Speaker and Visiting Scientist: The Belt and Road Conference on Thalassemia, Oct 31-Nov 2, 2018. Nanning, China. Visiting Scientist: Chinese National Gene Bank (CNGB) Shenzhen China, August 2-4, 2018.Visiting Scientist: Chinese Red Cross Foundation and GenetronHealth Beijing China, August 4-7, 2018.Research Professor: Cologne Center for Genomics, Department of Genomics, Cologne University, Cologne Germany. January 29-Feb. 11, 2018.Invited Speaker and Visiting Scientist: Institute of Cardiogenetics, Lubeck University, Lubeck, Germany. January 25-29, 2018. Research Professor: PANUM Institute, WJC, Institute of Cellular and Molecular Medicine (ICMM), Copenhagen University, Copenhagen Denmark. January 17-25, 2018.Research Professor: Department of Immunology, Genetics and Pathology, Science for Life Laboratory, BMC, Uppsala University, Uppsala, Sweden. January 10-17, 2018Invited Scientist: China National Gene Bank (CNGB), Shenzhen China. Oct 14-16, 2017Invited Speaker and Scientist: Ningbo Institute of Materials Technology and Engineering (NIMTE), Ningbo, China. Oct 13-14, 2017Invited Speaker: 2017 Big Data Forum for Life and Health Sciences, Beijing, China. BIG Chinese Academy of Sciences, Beijing, China. Oct 10-13, 2017 Research Professor: PANUM Institute, WJC, Institute of Cellular and Molecular Medicine (ICMM), Copenhagen University, Copenhagen Denmark. May 25- June 11, 2016.Research Professor: Cologne Center for Genomics, Department of Genomics, Cologne University, Cologne Germany. April 25-May 3, 2016.Research Professor: Department of Immunology, Genetics and Pathology, Science for Life Laboratory, BMC, Uppsala University, Uppsala, Sweden. April 17-25, 2016.Visiting Scientist and key note speaker: Genetron Health Beijing, Beijing Genomic Institute (BGI) Shenzhen, PR China, Oct 26 to Nov 5, 2016.Research Professor: Cologne Center for Genomics, Department of Genomics, Cologne University, Cologne Germany. July 4-14, 2015.Research Professor: Department of Immunology, Genetics and Pathology, Science for Life Laboratory, BMC, Uppsala University, Uppsala, Sweden. May 18-27, 2015.Research Professor: PANUM Institute, WJC, Institute of Cellular and Molecular Medicine, Copenhagen University, Copenhagen Denmark. March 24- April 2, 2015.

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Co-Chair and Invited key Note Speaker: International Conference on Health and Medicine, Colombo Sri Lanka, March 16-20, 2015.Visiting Professor: Genome Research Chair, King Saud University, KSA. March 3-8, 2015Research Professor: Department of Medical Sciences, Xiamen University, Xiamen Fujian, P.R. China, August 18-28, 2014.Research Professor: Department of Immunology, Genetics and Pathology, Science for Life Laboratory, BMC, Uppsala University, Uppsala, Sweden. May 22-30, 2014Research Professor: PANUM Institute, WJC, Institute of Cellular and Molecular Medicine, Copenhagen University, Copenhagen Denmark. May 30-Jun 12, 2014.Research Professor: Cologne Center for Genomics, Department of Genomics, Cologne University, Cologne Germany. June 12-25, 2014.Research Professor: PANUM Institute, WJC, Institute of Cellular and Molecular Medicine, Copenhagen University, Copenhagen Denmark. Sept 29-Oct 7, 2013.Research Professor: Cologne Center for Genomics, Department of Genomics, Cologne University, Cologne Germany. Oct 7-Oct 18, 2013.Research Professor: Department of Immunology, Genetics and Pathology, Science for Life Laboratory, BMC, Uppsala University, Uppsala, Sweden. Oct 18-27, 2013. Research Professor: Cologne Center for Genomics, Department of Genomics, Cologne University, Cologne Germany. May 1-12, 2013.Research Professor: Department of Immunology, Genetics and Pathology, Science for Life Laboratory, BMC, Uppsala University, Uppsala, Sweden. May 12-25, 2013.Research Professor: PANUM Institute, WJC, Institute of Cellular and Molecular Medicine, Copenhagen University, Copenhagen Denmark. May 25-June 5, 2013.Research Professor: Cologne Center for Genomics, Department of Genomics, Cologne University, Cologne Germany. Jan 16-Feb 1, 2012.Research Professor: Department of Immunology, Genetics and Pathology, Science for Life Laboratory, BMC, Uppsala University, Uppsala, Sweden. Feb 1-16, 2012.Research Professor: PANUM Institute, WJC, Institute of Cellular and Molecular Medicine, Copenhagen University, Copenhagen Denmark. Feb 16-March3, 2012.Research Professor: Laboratory of Genetic Skin Diseases, Niigata University Graduate School of medical and Dental Sciences, Niigata, Japan. Nov 13-Dec 2, 2011.Research Professor: PANUM Institute, WJC, Institute of Cellular and Molecular Medicine, Copenhagen University, Copenhagen Denmark. Jan 2-11, 2011.Research Professor: Department of Immunology, Genetics and Pathology, Science for Life Laboratory, BMC, Uppsala University, Uppsala, Sweden. Jan 11-Feb 28, 2011.Research Professor: Cologne Center for Genomics, Department of Genomics, Cologne University, Cologne Germany. Jan 28-Feb 4, 2011.Research Professor: Department of Immunology, Genetics and Pathology, Science for Life Laboratory, BMC, Uppsala University, Uppsala, Sweden. Jan-Feb 2010.Research Professor: PANUM Institute, WJC, Institute of Cellular and Molecular Medicine, Copenhagen University, Copenhagen Denmark. Feb. 2010.Research Professor: PANUM Institute, WJC, Department of Cellular and Molecular Medicine, Copenhagen University, Copenhagen Denmark. Feb-Mar 2009. Research Professor: Department of Immunology, Genetics and Pathology, Science for Life Laboratory, BMC, Uppsala University, Uppsala, Sweden. Jan-Feb 2009.DAAD Fellowship as Visiting Scientist: Cologne Center for Genomics, Department of Genomics, Cologne University, Cologne Germany, Department of Immunology, Genetics and Pathology, Science for Life Laboratory, BMC, Uppsala University, Uppsala, Sweden. June-July 2008.Research Professor: Copenhagen University Invited Scientist: PANUM Institute, WJC, Institute of Cellular and Molecular Medicine, Copenhagen University, Copenhagen Denmark. Department of

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Medical Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden. Jan-Feb 2008.Research Professor: Department of Immunology, Genetics and Pathology, Science for Life Laboratory, BMC Uppsala University, Uppsala, Sweden. April-May 2007.

PhD students Mentored by Shahid M. Baig PhD Awarded 17: 14 as Primary Supervisor and 03 as Co-Supervisor (supervised the whole research):

1. Uzma Abdullah: Molecular Investigation of Selected Mendelian Disorders in Pakistani Consanguineous Families. 2018

2. Zafar Ali: Elucidating the genetic basis of neurological disorders in Pakistani population. 2017

3. Ambrin Fatima: Elucidation of Molecular Genetic Basis of Schizophrenia and Primary Microcephaly in Pakistani Population. 2016

4. Muhammad Jameel: Gene Identification in Mendelian Disorders Using Whole Exome sequencing 2016

5. Marriam Bakhtiar: Genetics of learning disabilities. 20146. Tahir Naeem Khan: Gene identification in Mendelian disorders using STR

mapping, SNP genotyping and whole exome sequencing. 20147. Muhammad Tariq: Molecular genetics of skin and skeletal disorders in

Pakistani kindreds. 2014 8. Sadia Nawaz: Identification and mutational analysis of genes involved in

inherited skin disorders. 20129. Aysha Azhar: Molecular Genetic analysis of inherited Alopecia in Pakistan.

201210. Shoaib ur Rehman: Molecular genetics of autosomal recessive mental

disorders in consanguineous Pakistani families. 2011 11. Iram Anjum: Molecular genetic analysis of autosomal recessive primary

microcephaly and eye disorders in Pakistani kindreds. 2011 12. Muhammad Farooq: Identification of genes and mutations involved in

primary microcepahly and inherited limb disorders in Pakistani families. 2010 13. Mahmood Rasool: Gene mapping and molecular analysis of some inherited

skin disorders in consanguineous Pakistani families. 200914. Asma Haque: Molecular detection of Salmonella typhi strains and their drug

resistance pattern. 200815. Neelam Sultan: Molecular genetics of autosomal recessive retinitis

pigmentosa. 2013, As Co-Supervisor (Supervised the whole PhD research and thesis write up at HMGL NIBGE).

16. Muhammad Zahid: Molecular heterogeneity of β-thalassemia mutations in the consanguineous Pakistani families. 2006, As Co-Supervisor (Supervised the whole PhD research and thesis write up at HMGL NIBGE).

17. Shagufta Jabeen: Genetic screening of drug addiction susceptibility markers. UAAR, 2016. As-Co-supervisor.

PhD in progress : Abubakar Moawia (4th year), Maria Asif (4th year), Sanam Faryal (4th year), Shumaila Zulfiqar (4th year), Maria Iqbal (4th year), Muhammad Sher (4th year), Shafaq Ramzan (3rd

year), Kamal Khan (4th year), Farid Ullah (4th year), Talia Ikram (3rd year), Saadia Maryam Saadi (1st year), Hammad Yousaf (1st year), Faiza Latif (1st year). PhD in progress as Co-supervisor (17): Cologne University Germany (01), NIBGE (10), ASAB NUST (01), PMAS-UAAR (01), UoS (01), HU (01), IMDC (01), GCUF (02).

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MPhil s tudents Mentored by Shahid M. Baig Degree Awarded (20)

1. Faiza Latif 20182. Waqas Ahmad 20183. Aimen Abdullah 20184. Hammad Yousaf 20175. Rubab Akbar 20166. Muhammad Adil Sabir 20167. Mashaal Ahmad. 20158. Rakia Manzoor. 20159. Talia Akram. 201510. Mohsin Ali Khan. 201411. Maria Asif. 201312. Uzma Abdullah. 201213. Syeda Seema Waseem. 201214. Madiha Fayyaz: Molecular analysis of autosomal recessive microcephaly. 201115. Sadia Bano: Molecular characterization of autosomal recessive non syndromic

hearing impairment in Pakistani families. 201116. Rabia Bashir: Molecular characterization of autosomal recessive mental

retardation in Pakistani families. 201117. Ilyas Ahmad: Genetic linkage analysis of alopecia and ectodermal dysplasia in

families from Northern Pakistan. 200818. Hammad Hassan: Molecular heterogeneity of β-thalassemia in Pakistani

patients. 200619. Tariq Zaman: Molecular genetics of β-thalassemia in Pakistan. 200520. Uzma Hameed: Molecular characterization of β-thalassemia mutations in

Pakistan. 2004

MPhil (Co-supervised) 14: Zanin Hassan 2018, Suleiman Khan 2018, Ammara. 2016, Mehwish Bokhari, 2014, Shumaila Rani. 2012, Shumaila Zulfiqar. 2012, Abubakar Moawia. 2012, Khola Javed 2012, Bushra Tehseen. 2011, Samia Noor. 2011, Zahra Iram. 2011, Sultan Ahmad. 2011, Fazli Rabbi Awan. 1999, Syed Habib Bukhari. 1996B.S (Hons) (Co-supervised): 30 ; 2010-18

OTHER ACADEMIC AND RESEACH ACTIVITIESReferee-reviewer: Prenatal Diagnosis, Journal of Medicine and Medical Sciences, Journal of Pediatric and Genetics, Community Genetics, Prenatal Diagnosis, Thalassemia Reports, Pakistan Journal of Medical Sciences, International Journal of Pathology, Journal of Molecular Biology, Annals of PIMS, Journal of Islamabad Medical and Dental college, Molecular Biology Reports, Clinical Genetics, Cytogenetic and Genome Research, Human Molecular Genetics, JPHO etc. Research F1000.

Expert and Advisory PositionsMember Academic Counsel: Virtual University Lahore for three years (2017-20)Focal Person to review research grant applications in the area of Medical Biotechnology: Higher Education Commission (HEC) of Pakistan. Feb 2012-Present Member Board of Studies: National Institute for Biotechnology and Genetic Engineering. 2010-PresentMember Technical Committee on Medical Sciences and Biotechnology: Pakistan Science Foundation (PSF), Islamabad. 2010-2013.

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Member Technical Board of Studies: Department of Biochemistry, University of Arid Agriculture, Rawalpindi. 2004-Present.Member Technical Board of Studies: Department of Biotechnology and Bioinformatics , GC University Faisalabad. 2013-Present.Member Technical Board of Studies: Department of Biotechnology, Mirpur University of Science and Technology (MUST), Mirpur, AJK. 2010-Present.Member Board of Studies: Institute of Molecular Biology and Biotechnology (IMBB), The University of Lahore. 2012-PresentMember Board of Studies: Virtual University, Lahore. 2015-PresentMember ASRB: Virtual University, Lahore. 2015-Present Member Academic Counsel: Virtual University, Lahore. 2017-PresentMember Technical Board of Studies: Institute of Human Genetics, Hazara University, Mansehra. 2015-Present Member ASRB: Hazara University, Mansehra. 2017-PresentMember Technical board of Studies: AJK University, Muzaffarabad. 2016-PresentMember Technical board of Studies: OMIC Studies, Islamia College Univ. Peshawar. 2017-PresentMember Technical board of Studies: Rawalakot University, Rawalakot, AJK. 2016-PresentMember Technical Board of Studies: Kinnaird College for Women University, 2018-PresentMember Technical Board of Studies: Govt. College Women University, Faisalabad. 2017-PresentExpert Member Selection Board: MLT Haripur University, Haripur. 2013-Present.Expert Member Selection Board: Biochemistry, Microbiology, Hazara University, MansehraExpert Member Selection Board: Biotechnology, International Islamic University, Islamabad.Expert Member Selection Board: Biotechnology, Islamia University, Bahawalpur.Member Research Ethics Committee: Pakistan Medical Research Counsel, Punjab Medical College, Allied Hospital Faisalabad. 2010-PresentMember Institutional Research Ethics Committee: National Institute for Biotechnology and Genetic Engineering. 2010-PresentMember Expert Panel on Health: Pakistan Counsel for Science and Technology, Ministry of Science and Technology, Islamabad. Jan-May 2012.Visiting Faculty (Clinical Biochemistry): Department of Biochemistry, University of Arid Agriculture, Rawalpindi. 2000-2004.Approved PhD supervisor by HEC: For indigenous MPhil/PhD program by HEC in the field of Molecular Biology and Human Molecular Genetics, PhD degree awarded 17 (presently supervising 20 PhD scholars).External Examiner (M.Phil. and PhD): Lahore University of Management Sciences (LUMS); Arid University Rawalpindi, Agriculture University, Faisalabad; GC University Faisalabad; COMSATS Institute of Information Technology Islamabad; Quaid-I-Azam University, Islamabad; Punjab University, Lahore; Baluchistan University of Information Technology, Management Sciences and Technology (BUITEMS), Quetta; University of Karachi; Aga Khan University Karachi; Atta Ur Rehman School of Applied Biology (ASAB), National University of Science and Technology (NUST), Islamabad; FC College University Lahore; Sargodha University Sargodha; Punjwani Center for Molecular Medicine Karachi; University of Gujrat, Gujrat.

Member Board of Directors Quaideen (Elected): Alumni of Quaid-i-Azam University. 1986-Present.President Quaideen (Elected): Alumni of Quaid-i-Azam University. 1990-94.

Special International Invited Lectures (Selected) 1. Institute of Cardiogenetics, Lubeck University, Lubeck Germany,

January 29, 2018.

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2. Beijing Genomic Institute (BIG), Beijing China. Oct 11, 2017.3. Institute of Material Sciences Ningbo University, China,. Oct 14, 2017.4. Prevention of genetic diseases in Pakistan. Key note lecture. March 16-

20, 2015. International conference on health and medicine. Colombo Sri Lanka.

5. Molecular Diagnosis of genetic diseases in the Pakistani population. August 21, 2014 at Molecular Diagnosis Laboratory, Department of Medical Sciences, Xiamen University, Xiamen, Fujian, P.R. China.

6. An overview of genetic diseases and their prevention in the inbred Pakistani population. May 30, 2013, Department of Cellular and Molecular Medicine, Wilhelm Johansen Centre, PANUM Institute, Copenhagen University, Copenhagen, Denmark.

7. State of genetic diseases in the consanguineous Pakistani population and disease prevention strategies. June 4, 2013, Glycomics Laboratory, Department of Cellular and Molecular Medicine, Wilhelm Johansen Centre, PANUM Institute, Copenhagen University, Copenhagen, Denmark.

8. Gene mapping of genetic diseases in the inbred Pakistani families for carrier screening and prenatal diagnosis. Oct 23, 2012, at Nationwide Children’s Hospital, Ohio State University, Columbus Ohio, USA.

9. State of the genetic disorders in Pakistan. Nov 22, 2011 at Laboratory of Genetic Skin Diseases, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.

10. Molecular genetic analysis of monogenic disorders in the Pakistani population. 11th Feb. 2008, Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.

11. Spectrum of -thalassemia mutations and molecular analysis of various genetic disorders in the Pakistani families. 6 th February, 2008, Department of Cellular and Molecular Medicine, Wilhelm Johansen Centre, PANUM Institute, Copenhagen University, Copenhagen, Denmark.

12. Spectrum of -thalassemia mutations and molecular analysis of various genetic disorders in the Pakistani families. 27th May 2007, Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.

Invited Lectures, Key Note Speaker (National/International), Selected

1. International Conference on New Trends in Natural Sciences, Public Health, Food Nutrition and Safety, Lahore college for Women University, Lahore. October 24-26, 2018

2. Conference on Biochemistry Recent Technologies, Govt. College Women Univ. FSD. May 8, 2018

3. International Conference, Genomic Technologies, PCSIR, Lahore, April 26, 2018

4. International Conference, Inherited diseases, Virtual University, Lahore, March 29, 2018

5. International Symposium, IBB, Punjab University Lahore, October 24, 2017.

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6. International Symposium on Genomics, Center for Human Genetics, Hazara Univ, Sept. 29, 2017

7. International symposium “Human Population & Disease Genomics – Dr. S. Qasim Mehdi Memorial Symposium” COMSTECH, Islamabad, April 10-12, 2017.

8. International Conference on Biotechnology and Biomaterials. Akhuwat FIRST, Faisalabad, March 30-31, 2016.

9. Neurological Disorders: Govt. College University Faisalabad. March 17, 2016

10. Inherited diseases in Pakistan: NAYS, NIBGE Faisalabad. March 17, 2016

11. Prevention of inherited diseases. Univ South Asia, Lahore. Feb 25, 201612. Emrbyonic proteins in Neurodevelopmental diseases, UAF, Feb 22, 201613. NGS Technologies in genetic diseases: SZABM Univ PIMS, Islamabad.

Feb 4, 2016 14. Genomic Technologies and inherited diseases. Hazara University, Jan 4.

2016 15. Understanding the molecular basis of inherited diseases in Pakistani

population for disease prevention and efficient therapeutic approaches. ICCBS, Karachi January 12-15. Invited Lecture.

16. Strategies for prevention of genetic disorders in OIC. COMSTECH, Islamabad, November 28, 2014.

17. Genomic Technologies to Characterize Inherited Disorders in Pakistani Population. ASAB NUST, Islamabad. November 24, 2014. Special Seminar

18. Molecular diagnosis of genetic diseases in Pakistani population. NIBGE Faisalabad. Diabetes Day, November 20, 2014. Special Lecture

19. Genomic Technologies to alleviate the disease burden and improve the health care system in Pakistan. University of Gujrat, Gujrat. October 16, 2014. Special Seminar

20. Molecular characterization of genetic diseases in Pakistani population, NIBGE, Faisalabad. September 9, 2014. Journal club Seminar

21. Prevention of Genetic Diseases in Pakistani population. International conference on Biotechnology, National Institute for Biotechnology and Genetic Engineering (NIBGE) Faisalabad. April 22-26, 2013. Opening Lecture.

22. Prevention of Genetic Diseases in Pakistani population. 33rd Pakistan Congress of Zoology (International) at Convention Center, Islamabad on April 2-4, 2013. Opening Lecture of the Conference.

23. Molecular Diagnosis of Genetic Diseases. Golden Jubilee Celebrations, Chemistry and Biochemistry, University of Agriculture Faisalabad. June 8 -14, 2011.

24. Molecular Diagnosis of HCV and Discovery of antiviral agents. The Biology of Hepatitis C Virus. Forman Christian College, Lahore, Pakistan. May 21, 2011.

12

25. Variation in Human Genome. Application of SNPs in diagnosis of diseases. Dept. Biochemistry, PMAS University of Arid Agriculture, Rawalpindi. April 20-22, 2011.

26. Molecular Diagnosis of Genetic Diseases. Frontiers in Molecular Biology and Biotechnology, OIC Standing Committee on Scientific and Technological Cooperation (COMSTECH), Islamabad. March 28-30, 2011.

27. Prevention of β-thalassemia through prenatal diagnosis in Pakistani population at NIBGE-MINAR. One-day special seminar on “Antenatal diagnosis of thalassemia” at Multan Institute of Nuclear Medicine and Radiotherapy (MINAR). 11th August, 2010, Multan, Pakistan.

28. Single Nucleotide deletion in the PMS2 gene causing Glioblastoma in a Large Consanguineous Pakistani Family in Autosomal Recessive Pattern. March 27th, 2010, NORI, Islamabad.

29. Single Nucleotide deletion in the PMS2 gene causing Glioblastoma in a Large Consanguineous Pakistani Family in Autosomal Recessive Pattern. Sept., 4, 2009, NORI, Islamabad.

30. Molecular genetics and prenatal diagnosis of monogenic disorders in the Pakistani population. One day special seminar on molecular diagnostics by NIBGE held at Multan Institute of Nuclear Medicine and Radiotherapy (MINAR). 23rd April, 2008, Multan, Pakistan.

31. Use of nanomaterials in non-invasive prenatal diagnosis of genetic diseases. An invited seminar at International thematic workshop on the “Nanomedicine: The use of nanoparticles in medical diagnostics”. 13th to 20th March 2008, Islamabad Pakistan.

32. Molecular diagnosis of genetic diseases. International workshop on “Techniques related to molecular biology and immunology”. Dec. 18-23, 2006. Department of Biochemistry, University of Arid Agriculture, Rawalpindi, Pakistan.

33. Role of medicines in poverty alleviation. Workshop on emerging technologies next generation networks and good practices in science and technology for poverty alleviation. Kohat University of Science and Technology, May 19-21, 2006, Kohat, Pakistan.

34. Mutation detection systems for the diagnosis of human genetic disorders. Seminar on use of therapeutic agents and diagnostic kits, 14-16 th Feb. 2005. Sponsored by National Commission on Biotechnology (NCB), organized by Department of Biochemistry, University of Arid Agriculture, Rawalpindi.

35. Advances in the molecular diagnosis of HCV. 21st Annual congress of Pakistan’s Society of Gastroenterology and GI Endoscopy. March 25-27, 2005, Peshawar, Pakistan.

Peer Reviewed Publications (110) of Shahid M. Baig Total Impact Factor: >425 Average Impact Factor per article. 4.322 ISI Web of Knowledge Citations >2,000; H Factor: 26; i10 Factor: 43

S. No

Title Impact Factor

Times Cited in Web of Science

13

1 Recessive mutations in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia. 2019. Khan, K., Zech, M., Morgan, A.T., Amor, D.J., Khan, T.N., Hildebrand, M.S., Jackson, V.E., Scerri, T.S., Coleman, M., Rigbye, K.A., Scheffer, I.E., Bahlo, M., Wagner, M., Lam, D.D., Berutti, R., Havránková, P., Fečíková, A., Strom, T.M., Skorvanek, M., Han, V., Dosekova, P., Gdovinova, Z., Laccone, F., Mooney, M.R., Jameel, M., Baig, S.M., Jech, R., Davis, E.E., Katsanis, N., Winkelmann. J., Genetics in Medicine, GIM-D-19-00033 (Accepted: In press).

9.937

2 Primary microcephaly, primordial dwarfism and brachydactyly in adult cases with bi-allelic skipping of RTTN exon 42. 2019. Zakaria M, Fatima A, Klar J, Wikström J, Abdullah U, Ali Z, Akram T, Tariq M, Ahmad H, Schuster J, Baig SM, Dahl N. Hum Mutat. 2019 Mar 30. doi: 10.1002/humu.23755. [Epub ahead of print] PMID: 30927481

5.359

3 Mutations in the condensin II component NCAPG2 cause an autosomal recessive neurodevelopmental syndrome. 2019. Khan, T.N., Khan, K., Sadeghpour, A., Reynolds, H., Perilla, Y., Marie, M.T., Gallentine, W.B., Baig, S.M., Task Force for Neonatal Genomics, Davis, E.E., Katsanis, N. Am J Hum Genet. 2019 Jan 3;104(1):94-111. doi: 10.1016/j.ajhg.2018.11.017.

9.025

4 Lipids as biomarkers of brain diseases. 2019. Hussain, G., Anwar, H., Rasul, A., Qasim, M., Baig, S.M. et al. Critical Reviews in Food Science and Nutrition, Crit Rev Food Sci Nutr. 2019 Jan 7:1-24. doi: 10.1080/10408398.2018.1529653. [Epub ahead of print]

6.015

5 Role of cholesterol and sphingolipids in brain development and neurological diseases. 2019. Hussain G, Wang J, Rasul A, Anwar H, Imran A, Qasim M, Zafar S, Kamran SKS, Razzaq A, Aziz N, Ahmad W, Shabbir A, Iqbal J, Baig SM, Sun T. Lipids Health Dis. 18(1):26. doi: 10.1186/s12944-019-0965-z. Review.

2.707

6 Identifying the barriers of delayed presentation in Pakistani breast cancer patients undergoing treatment at a tertiary care hospital. 2019. Gulzar, F., Jamil, S., Baig, S.M., Sadiq, S., Akhtar, S. Cancer Management and Research, 29;11:1087-1096. doi: 10.2147/CMAR.S180388. eCollection 2019.

3.702

7 A novel inframe Mutation in CLN3 Leads to Juvenile Neuronal CeroidLipofuscinosis in large Pakistani family. 2019. Sher, M., Muhammad, F., Abdullah, U., Ali, Z., Faryal, S., Ullah, F., Bukhari, H., Møller, R., Tommerup, N., Baig, S.M. I J Neurosci. Mar 20:1-6. doi: 10.1080/00207454.2019.1586686. [Epub ahead of print]

1.848

8 Fluorescence guided sentinel lymph node mapping: from current molecular probes to future multimodal nanoprobes. 2018. Dai Z, Hameed S, Chen H, Irfan M, Bajwa SZ, Khan WS, Baig SM. Bioconjug Chem. 2018 Dec 3. doi: 10.1021/acs.bioconjchem.8b00812. [Epub ahead of print] PMID:30508381

4.485

9 Hereditary brain tumor with a homozygous germline mutation in 2.21

14

PMS2: pedigree analysis and prenatal screening in a family with constitutional mismatch repair deficiency (CMMRD) syndrome. 2018. Baig, S.M., Fatima, A., Tariq, M., Khan, T.N., Ali, Z., Faheem, M., Mahmood, H., Killela, P., Waitkus, M., He, Y., Zhao, F., Wang, S., Jiao, Y., Yan. H. Familial Cancer, Apr;18(2):261-265. doi: 10.1007/s10689-018-0112-4

10 Association Between Single Nucleotide Polymorphisms and Asthma Risk: A Population-Based Study in Pakistan. 2018. Faryal, S., Chopra, A., Muhammad, F., Sher, M., Ali, Z., Bokhari, H., Abdullah, U., Moller, R., Tommerup, N., Baig, S.M. Journal of Asthma. LJAS-2018-0171 (Revision submitted)

1.8

11 A novel mutation in GPR56 gene causing autosomal recessive bilateral frontoparietal Pachygyria in a Pakistani Consanguineous family. 2018. Zulfiqar, S., Aliz, Z., Abdullah, U., Fatima, A., Baig, S.M. EJMG, 2018-307 (Under review).

1.9

12 A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features. 2018. Kellaris, G., Khan, K., Shahid M. Baig, S.M., Tsai, I., Zamora, F.M., Ruggieri, P., Natowicz, M.R., Katsanis, N. Human Genomics Mar 1;12(1):11. doi: 10.1186/s40246-018-0141-y.

3.327 2

13 Epigenetic relation of HIV-1 latency: focus on polycomb group (PcG) proteins. 2018. Khan, S., Iqbal, M., Tariq, M., Baig, S.M., Abbas, W. Clinical Epigenetics, DOI: 10.1186/s13148-018-0441-z.

4.987 2

14 Mutations in genes encoding five interacting components of thenuclear pore complex cause nephrotic syndrome and/or microcephaly. 2018. Braun, D.A., Lovric, S., Schapiro, D., Schneider, R., Marquez, J., Asif, M., Hussain, M.S., Ashraf. S., Abubakar Moawia, A., Ishaq. A., Altmueller, J.,Noegel, A.A., Waseem, S.S.,Khan, A., Antonin, W., Baig, S.M., Alkuraya, F.S., Peter Nürnberg, P., Khokha, M., & Hildebrandt, F. et al. Journal of Clinical investigations 2018 Oct 1;128(10):4313-4328. doi: 10.1172/JCI98688. Epub 2018 Sep 4.

13.25

15 A novel mutation in RDH5 gene causes retinitis pigmentosa in consanguineous Pakistani family. 2018. Neelam Sultan, N., Ali, I., Bukhari, S.A., Baig, S.M., Muhammad Asif, M., Qasim, M., Naseer, M.I., Rasool, M. Genes and Genomes, Genes & Genomics, 40(5):553-559. https://doi.org/10.1007/s13258-018-0657-5

0.566

16 Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia. 2018. Tariq M, Khan TN, Lundin L, Jameel M, Lönnerholm T, Baig SM, Dahl N, Klar J. Clin Genet. 93(1):182-186. doi: 10.1111/cge.13091.

3.512 1

17 Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features. 2017. Ali, Z., Zulfiqar,S., Ullah, F., Khan, A., Abdullah, U., Baig, S.M., Klar, J., Wikström, J., Dahl, N. BMC Medical Genetics, 18:144 DOI 10.1186/s12881-017-0504-6.

2.198

18 Mutations of KIF14 Cause Primary Microcephaly by Impairing 10.244 8

15

Cytokinesis. 2017. Moawia, A., Ranad, S.,Waseem, S.S., Nour, E., Birgit, B., Amit, K., Susanne, M., ; Khan, K., Fatima, A., Jameel, M., Ullah, F., Akram, T., Ali, Z., Abdullah, U., Höhne, W., Noegel, A., Al-Owain, M., Hörtnagel, K., Stöbe, P., Baig, S.M., Nürnberg, P., Alkuraya, F., Hahn, A., Hussain, M.S. Annals of Neurology, 82(4):562-577.

19 Altered Paracellular Cation Permeability Due to a Rare CLDN10B Variant Causes Anhidrosis and Kidney Damage. 2017.  Klar, J., Piontek, J., Milatz, S., Tariq, M., Jameel, M., Breiderhoff, T., Jens Schuster, J., Fatima, A, Asif, M., Sher, M., Mäbert, K., Fromm, A., Baig, S.M., Günzel, D., Dahl, N.. Plosgenetics. 13(7)e1006897 Published July 2017.

6.3 5

20 Abdullah, U., Farooq, M., Mang, Y., Bakhtiar, S.M., Fatima, A., Hansen, L., Kjaer, K.W., Larsen, L.A., Tommerup, N., Baig, S.M. 2017. A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family.. European Journal of Medical Genetics, 60(12): 627-630. doi.org/10.1016/j.ejmg.2017.07.2017.

1.9 1

21 Abdullah, U., Farooq, M., Fatima, A., Tauseef, W., Sarwar, Y., Nuri, MMH. Tommerup, N., Baig, S.M. 2017. Homozygous Mutation in the NPHP3 gene causing Foetal Nephronophthisis. Nephrology, 22(10): 818-820.

1.79

22Neuhaus, C., Eisenberger, T., Decker, C., Nagl, S., Blank, C., Pfister, M., Kennerknecht, I., Müller-Hofstedde, C., Charbel Issa, P., Heller, R., Beck, B., Rüther, K., Mitter, D., Rohrschneider, K., Steinhauer, U., Korbmacher, H., Huhle, D., Elsayed, S., Baig, S.M., Stöhr, H., Preising, M., Markus, S., Möller, F., Lorenz, B., Nagel-Wolfrum, K., Khan, A., Bolz, H.J. NGS reveals the mutational landscape of clinically diagnosed Usher syndrome: CNVs, phenocopies, a predominant target for translational read-through and mutated in Heimler syndrome. 2017. Molecular Genetics & Genomic Medicine, 5(5): 531-552.

2.626

23 Klar, J., Ali, Z., Farooq, M., Khan, K., Wikström, J., Iqbal, M., Zulfiqar, S.,Faryal, S., Baig, S,M., and Dahl, N. A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers. 2017. European Journal of Human Genetics, 25(7): 848-843. doi: 10.1038/ejhg.2017.54

4.349 3

24 Ahmad I, Baig SM, Abdulkareem AR, Hussain MS, Sur I, Toliat MR, Nürnberg G, Dalibor N, Moawia A, Waseem SS, Asif M, Nagra H, Sher M, Ali Khan MM, Hassan I, Ur Rehman S, Thiele H, Altmüller J, Noegel AA, Nürnberg P. 2017. Genetic heterogeneity in Pakistani microcephaly families revisited. Clinical Genetics, 92(1): 62-68.

3.931 7

25 Ali, Z., Khan, K., Jameel, M., Fatima, A., Klar, J., Raininko, R., Baig, S.M., Dahl, N. 2016. Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities. Journal of Neurological Sciences, 371: 105-111.

2.126 2

26 Sukumaran, S.K., Stumpf, M., Sarah Salamon, S., Ilyas Ahmad, I., Kurchi Bhattacharya, K., Fischer, S., Müller, R., Altmüller, J., Budde, B., Thiele, H., Tariq, M., Malik, N.A., Nürnberg, P., Baig, S.M., Muhammad Sajid Hussain, M.S. Angelika Noegel, A. 2016. CDK5RAP2 interaction with components of the Hippo signaling

2.0 5

16

pathway and its potential impact on primary microcephaly. Molecular Genetics and Genomics, 292(2):365-383.

27 Fatima, A., Farooq, M., Abdullah, U., Tariq, M., Mustafa, T., Iqbal, M., Tommerup, N., Baig, S.M. 2016. Genome-wide supported risk variants in MIR137, CACNA1C, CSMD1, DRD2 and GRM3 contribute to schizophrenia susceptibility in Pakistani population. Psychiatry Investigations, 14(5): 687-692.

1.05

28 Møllera, R.S., Line H.G., Larsend K. M., Talvikm, J.I., Talvikn, T., Vahern, U., Mirandae, M.J., Farooq, M., Jens E.K. Nielsenf Lene Lavard Svendseng Ditte B. Kjelgaarda Karen M. Linneth Qin Haod Peter Uldalla Mimoza Franguj., Tommerup, N., Baig, S.M., Abdullah, U., Alfred P. Bornk Pia Gellerta Marina Nikanorovaa, Kern Olofssona Birgit Jepsena Dragan Marjanovica Lana I.K. Al-Zehhawii Sofia J. Peñalvaq Bente Krag-Olsenh Klaus Brusgaardd Helle Hjalgrima, Guido Rubbolib Deb K. Palr Hans A. Dahl. 2016. Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. Mol Syndomology, 7(4):210-219.

18

29 Szczepanski, S., Hussain, M.S., Altmüller, J., Thiele H., Abdullah, U., Moawia, A., Waseem, S.S., Nürnberg, G., Angelika Anna Noegel, A.A., Baig, S.M. and Nürnberg, P. 2016. A Novel homozygous spice site mutation of CASC5 causes primary microcephaly in a large Pakistani family. Hum Genet. 2016 Feb;135(2):157-70.

5.138 10

30 Moawia, A., Waseem, S.S., Budde, B., Noegel, A.A., Nurnberg, P., Hahn, A., Baig, S.M., Hussain, M.S. 2017.Mutations in KIF14, Encoding Kinesin-Like Protein KIF14, Cause Primary and Syndromic Microcephaly. Neuropediatrics, 20 48(S 01):S1-S45· DOI: 10.1055/s-0037-1602886.

1.866

31 Nawaz, H., Rashid, N., Muhammad, S., Amin, I., Iqbal, M., Rahman, M., Ibrahim, O., Baig, SM., Ahmad, M., Bonnier, F., Byrne, H. 2016. Prediction of viral loads for diagnosis of Hepatitis C infection in human plasma samples using Raman spectroscopy coupled with Partial Least Squares Regression analysis." Journal of Raman Spectroscopy, 48(5): 697-704.

2.5 8

32 Jabeen, S., Raja, M.S., Saeed, S., Zafar, M.M., Rizwana Abdul Ghani, R.A., Mahmood, A., Fiaz, M., Shiaq, P.A., Baig, S.M., Naqvi, S.M.S., Raja, G.K. 2016. Factors Influencing Vulnerability Towards Heroin Addiction in a Pakistani Cohort. PJZ, 49(1):95-99.

0.34

33 Klar, J., Schuster, J., Khan, T.N., Jameel, M., Maebert, K., Forsberg, L., Baig, S.A., Baig, S.M., Dahl, N. 2015.Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans. J Med Genet., 52(9):599-606.

5.65 6

34 Zain M, Awan FR, Amir S, Baig SM. 2015. A case control association study of COMT gene polymorphism (I/D) with type 2 diabetes and its related factors in Pakistani Punjabi population.J Diabetes Metab Disord. 2015 May 6;14:40. doi: 10.1186/s40200-015-0166-x. eCollection 2015.

1

35 Farooq, M., Fatima, A., Mang, Y., Hansen, L., Kjaer, KW., Baig, SM., 2.487 5

17

Larsen, LA., Tommerup, N. 2016. A Novel Splice Site Mutation in CEP135 is Associated with Primary Microcephaly in a Pakistani Family. J Hum Genet. 2016 Mar;61(3):271-3. doi: 10.1038/jhg.2015.138. Epub 2015 Dec 10.

36 Jameel. M., Klar, J., Tariq, M., Moawia, A., Waseem, S.S., Abdullah, U., Malik, N.A., Khan, T.N., Khan., Reninko, R., Baig S.M., Dahl, N. 2014. A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical variability in AP-4 deficiency. BMC Medical Genetics Dec 14;15(1):133. doi: 10.1186/s12881-014-0133-2.

2.094 9

37 Martin, C.A., Ahmad, I., Klingseisen, A., Hussain, M.S., Bicknell, L., Leitch, A., Nürnberg, G., Toliat, M., Murray, J., Hunt, D., Khan, F., Ali, Z., Tinschert, S., Ding, J., Cormier-Daire, V., Dollfus, H., Dupuis, L., McElreavey, K., Kariminejad, A., Mendoza-Londono, R., Moore, A., Saggar, A., Schlechter, C., Thiele, H., Altmueller, J., Höhne, W., Weleber, R., Hurles, M., Noegel, A., Baig, S.M., Nuernberg, P., Jackson, A. 2014. Mutations in PLK4, a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinal dystrophy. Nat Genet. 46(12): 1283-1292.

31.616 71

38 Klar, J., Hisatsune, C., Baig, S.M., Tariq, M., Johansson, A.C.V., Rasool, M., Malik, N.A., Ameur, A., Sugiura, K., Feuk, L., Mikoshiba, K., Dahl, N. 2014. Abolished insP(3)R2 function inhibit sweat secretion in both humans and mice. J Clin Invest. 124(11): 4773-4780.

13.244 26

39Khan, M.A., Rupp, V.A., Orpinell, M., Hussain, M.S., Altmuller, J., Michel O. Steinmetz, M.O., Enzinger, C., Thiele, H., Hohne, W., Nurnberg, G., Baig, S.M., Ansar, M., Peter Nurnberg, P., Vincent, J.B., Speicher, M.R., Gonczy, P., Christian Windpassinger, C. 2014. A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly. Hum Mol Genet. 2014, 32(22):5940-9 Jun 20. pii: ddu318. [Epub ahead of print].

5.985 28

40 Schuster, J., Khan, T.N., Tariq, M., Arzoo, P., Mäbert, K., Baig, S.M., Klar, J. 2014. Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy. BMC Med Genet. 2014 Jun 24;15(1):71. [Epub ahead of print]. Impact Factor: 2.536

2.094 7

41 Raykova, D., Klar, J., Azhar, A., Khan, T.N., Malik, N.A., Iqbal, M., Tariq, M., Baig, S.M., Dahl, N.. 2014. Autosomal Recessive Transmission of a 1 Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis. PlosOne 2014 Apr 8;9(4):e93607. doi: 10.1371/journal.pone.0093607. eCollection 2014.

3.057 9

42 Eisenberger, T., Di Donato, N., Baig, S.M., Neuhaus, C., Decker, E., Mürbe, D., Decker, C., Carsten Bergmann, C., Bolz, H.J. 2014. Targeted and genomewide NGS data largely disqualify mutations in MYO1A, the "DFNA48gene",as a cause of deafness. Human Mutation doi: 10.1002/humu.22532.

5.089 23

43 Islam M, Awan FR, and Baig SM. 2014. Development of ARMS-PCR assay for genotyping of Pro12Ala SNP of PPARG gene: A cost effective way for case-control studies of type 2 diabetes in developing countries. Mol Biol Rep41(9):5585-5591.

1.698 3

18

44 Bakhtiar, S.M., Ali, A., Baig, SM., Barh, D., Miyoshi, A., Azevedo, V. 2014.Identifying human disease genes: advances in molecular genetics and computational Approaches. Genet. Mol. Res. 13 (3): 5073-5087.

0.764 7

45 Lohan, S., Spielmann, M., Doelken, S.C., Flottmann, R., Muhammad, F., Baig, S.M., Wajid, M., Hulsemann, W., Habenicht, R., Kjaer, K.W., Patil, S.J., Girisha, K.M., Barriga, A., Mundlos, S., Klopocki, E. 2014. Microduplication encompassing the Sonic Hedgehog Limb Enhancer ZRS are Associated with Hass Type Polysyndactyly and laurin-Sandrow Syndrome. Clin Genet 86(4):318-325. Impact Factor: 4.05

3.931 24

46 Khan, T.N., Klar, J., Tariq, M., Malik, N.A., Yousaf, R., Baig, S.A., Baig, S.M., and Niklas Dahl. 2014. Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation. EJHG 22(10):1180-1184. Impact Factor: 4.319

4.58 15

47 Elisenberger, T., Neuhaus, C., Khan, O.A., Baig, S.M. et al. 2014. Increasing the yield in targeted Next-Generation Sequencing by implementing CNV analysis, non-coding exons and the overall variant load: The example of Retinal Dystrophies. PLOS ONE, 8(11):e78496.

3.892 103

48 Hussain, M.S., Baig, S.M., Neumann, S., Peche, V.S., Nürnberg, G., Tariq, M., Jameel, M., Naeem, T., Fatima, A., Malik, N.A., Ahmad, I., Altmüller, J., Frommolt, P., Thiele, H., Höhne, W., Yigit, G., Wollnik, B., Nürnberg, P., Noegel, A.A. 2013. CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly. HMG, 22(25):5199-5214, doi: 10.1093/hmg/ddt374.

6.393 45

49 Zain, M., Awan, F.R., Cooper, J.A., Li, K.W., Palmen, J., Acharya, J., Howard, P., Baig, S.M., Elkeles, R.S., Stephens, J.W., Ireland, H. and Humphries. S.E. 2014. Association of TLL1 Gene Polymorphism (rs1503298, T > C) with Coronary Heart Disease in PREDICT, UDACS and ED Cohorts. JCPSP Sep;24(9):615-9.

0.353 3

50 Najam, S.S., Awan, F.R., Baig, S.M. 2014. Serum Adiponectin Levels in Diabetes, Obesity and Gender in Punjabi Subjects from Faisalabad, Pakistan. JPMA 64(10: 1186-1188.

0.414 0

51 Farooq, M., Nakai, H., Fujimoto, A., Fujikawa, H., Kjaer, K.W., Baig, S.M., Shimomura, Y. 2013. Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family. Hum Genet, 132(11):1253-1264.

4.633 8

52 Hussain, M.S., Bakhtiar, S.M. Noegel, Farooq, M., Anjum. I., Noegel, A.A., Nürnberg, P. Tommerup, N., Kjaer, K.W., Baig, S.M., Hansen, L. 2013. Genetic heterogeneity in Pakistani microcephaly families. Clin Genet. 83(5), 446-451.

3.934 22

53 Mansuy-Aubert, V., Zhou, Q.L., Xie, X., Gong, Z., Huang, J.Y., Khan, A.R., Aubert, G., Candelaria, K., Thomas, S., Shin, D.J., Booth, S., Baig, S.M., Bilal, A., Hwang, D., Zhang, H., Lovell-Badge, R., Smith, S.R., Awan, F.R.  and Jiang, Z.Y. 2013. Imbalance between Neutrophil Elastase and Its Inhibitor a1-Antitrypsin Alters Inflammation, Insulin Sensitivity and Energy Expenditure in Obesity. Cell Metabolism, 17:534-548.

20.565 73

5411. Hansen, L., Rehman, SU., Tawamie, H., Murakami, Y., Buchert, R., 10.931 59

19

Schaffer, S., Muhammad, S., Nöthen, M.M., Maeda, Y., Wang, Y., Aigner, M., Reis, A., Kinoshita, T., Tommerup, N., Baig, S.M., Jamra, R.A. (2013). Hypomorphic mutations in the GPI-anchor remodeling gene PGAP2 cause autosomal recessive intellectual disability with elevated alkaline phosphatase. AJHG, 92(4):575-583.

55 Cui, C.Y., Klar, J., Frojmark, A.S., Baig, S.M., Dahl, N. 2013. Frizzled6 deficiency disrupts the differentiation process of nail development. J Invest Dermatol. 133(8):1990-1997.

7.216 16

56 Khan, T.N., Klar, J., Ali, Z., Khan, F., Baig, S.M. and Dahl N. 2013. Cenani-Lenz syndrome restricted to limb and kidney anomalies associated with a novel LRP4 missense mutation. Eur J Med Genet. 56(7):371-374.

1.466 11

57 Iqbal, Z. Aleem, A. Baig S.M. et al. 2013. Sensitive detection of pre-existing BCR-ABL kinase domain mutations in CD34+ cells of newly diagnosed chronic-phase chronic myeloid leukaemia patients is associated with imatinib resistance: implications in the post imatinib era. PLoS One. 2013;8(2):e55717. doi:10.1371/journal.pone. Epub ahead of print Feb 8.

3.234 12

58 Khan, T.N., Klar, J., Nawaz, S., Jameel, M., Tariq, M., Malik, N.A., Baig, S.M. and Dahl N. 2012. Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for polymorphic initiation codon (p.M11). BMC Medical Genetics, Dec 13 doi:10.1186/147-2350-13-120.

2.083 10

59 Tariq, M., Azhar, A., Baig, S.M., Dahl, N., Klar, J. 2012. A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair. Scientific Reports, 2:730. Oct 12, doi: 10.1038/srep00730.

5.578 5

6014. Azhar, A., Tariq, M., Baig, S.M., Dahl, N., Klar, J. 2012. A novel mutation in Lysophosphatidic Acid Receptor 6 gene in autosomal recessive hypotrichosis and evidence for a founder effect. Eur J Dermatol 22(4):464-466.

1.990 2

6116. Baig, S.M., Sabih, D., Rahim, K., Azhar, A., Tariq, M., Hussain, M.S., Baig, UR., Qureshi, J.A., Baig, SA., Bakhtiar, S. M. 2012. β-Thalsssemia in Pakistan: a pilot program on prenatal diagnosis in Multan. J Pediatr Hematol Oncol 34(2):90-92.

0.902 5

6217. Nawaz, S., Tariq, M., Ahmad, I., Malik, N.A., Baig, S.M., Dahl, N., Klar, J. 2012. Nonbullous congenital erythrodeerma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12. Eur J Dermatol 22(2):178-181.

1.990 2

6319. Hussain, M.S., Baig, S.M., Sascha Neumann, S., Nürnberg, G., Farooq, M., Ahmad, I., Alef, T., Hennies, H.C., Technau, M., Altmüller, J., Frommolt, P., Thiele, H., Noegel, A.A., Nürnberg, P. 2012. A Truncating Mutation of CEP135 is Associated with Primary Microcephaly and Disturbed Centrosomal Function. AJHG 90, 90(5):871-878.

11.202 85

20

6421. Baig, S.M., Alexandra Koschak, Andreas Lieb, Mathias Gebhart, Claudia Dafinger, Gudrun Nurnberg, , Amjad Ali, Ilyas Ahmad, Martina, J, Sinnegger-Brauns, Niels Brandt, Jutta Engel, Matteo E. Mangoni, Muhammad Farooq, Habib U. Khan, Peter Nurnberg, Jörg Striessnig, Hanno J. Bolz. 2011. Cav1.3 (CACNA1D), loss of function causes a novel human channelopathy with bradycardia and congenital deafness. Nat Neurosc 14(1):77-84.

19.839 130

6523. Frojmark, A.S., Schuster, J., Entesarian, M., Sobol, M., Gabrikova, D., Nawaz, S, Baig, S.M., Klar J., Dahl, N. 2011. Mutations in Frizzled 6 cause isolated autosomal recessive nail dysplasia. AJHG 88(6): 852-860.

11.202 36

6624. Rehman, U.S, Baig, S.M., Eiberg, H., Ahmad, I, Malik, N.A., Tommerup, N., Hansen, L. 2011. Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus at 11p15-tel. Neurogenetics, 2011, 12(3):247-51.

2.884 5

67 Lieb, A., Baig, SM., Gebhart, M., Dafinger, C., Engel, J., Mangoni, ME., Khan, HU., Nurnberg, P., Bolz, HJ. 2011. Biophysical Properties of a Human Disease-Causing Mutation in Ca(V)1.3 L-Type Calcium Channels. Biophysical Journal, 100(3): 570-570. S1

3.972

6826. Nawaz, S., Tariq, M., Aysha, A., Mahmood, R., Ahmad, I., Baig, S.M. 2011. Report of a recurrent mutation in ARS (component B) gene with severe Mal de Meleda in a large consanguineous Pakistani family. PJMS, 27(3): 686-689.

0.231 0

69 Iqbal, Z., Iqbal, M., Akhtar, T., Naqvi, M.I., Tahir, A.H., Gill, T.J., Abbas, M.N., Jamil, A., Taj, A.S., Abd-Al-Qayyum, Ur-Rehman, N., Ferhan, M., Shah, I.H., Khalid, M., Qin, W.X., Khalid, A.M., Khan, M., Aleem, A., Baig, S.M. 2010. Presence of Prior-to-Treatment BCR-ABL Mutations In CD34+CD38-Stem Cells of Newly Diagnosed Chronic Phase CML Patients and Their Correlation with Imatinib Resistance: Implications of Cancer Pharmacogenomics and Pre-Therapeutic Genetic Testing In Personalized Treatment of BCR-ABL plus Leukemia. Blood, 116 (21): 937-938.  

10.452 0

7028. Farooq, M., Troelsen, J.T., Boyd, M., Hansen, L., Eiberg, H., Hussain, M.S., Rehman, U.R., Azhar, A., Ali, A., Bakhtiar, SM., Tommerup, N., Baig, SM. Klaus, W.K. 2010. Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor binding affinity in a family with a novel point mutation in the long range cis-regulatory element ZRS. Eur J Hum Genet. 18:733-736.

4.349 25

7129. Farooq, M., Baig, SM., Tommerup, N., Klaus, W.K. 2010. Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities (MIM 218455) is caused by truncating MCPH1 mutation and is allelic to PCC and Primary Microcephaly type 1. Am J Med Genet Part A. 152A:495-497.

2.159 11

7230. Anjum, I., Eiberg, H., Baig, S.M., Tommerup, N., Hansen, L. 2010. A mutation in the FOXE3 gene causes congenital primary aphakia in an

1.986 15

21

autosomal recessive consanguineous Pakistani family. Mol Vis, 16:549-555.

7331. Rasool, R., Nawaz, S., Azhar, A., Wajid, M., Baig, S.M., Klar, J., Dahl, N. 2010. Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation. EJD 20(4):443-446.

1.990 7

7432. Ben, SM., Aifa, HM., Mansour, KM., Baig, SM., et al. 2010. High frequecny of the p.R34X in the TMC1 gene associated with non-syndromic hearing loss is due to founder effects. GTMB 14(3):307-311.

1.44 19

7534. Koschak, A., Baig, S. M., Gebhart, M., Dafinger, C., Nuernberg, G., Brandt, N., Engel, J., Ali, A., Ahmad, I., Sinnegger-Brauns, M. J., Mangoni, M. E., Farooq, M., Khan, H. U., Nuernberg, P., Bolz, H. J., Striessnig, J. 2010. Gating properties of a human disease-causing mutation in Ca(v)1.3 L-type calcium channels. Society for Neuroscience, Volume: 40.

0.0 0

7635. Baig, S.M., Azhar, A., Hassan, H., Baig, J. M. Qureshi, J. A. et al. 2006. Spectrum of β-thalassemia mutations in various regions of Punjab and Islamabad, Pakistan: establishment of prenatal diagnosis. Haematologica (Hematol Hematol J), 91(3):13-15.

6.24 0

7736. Baig, S.M. 2009. State of the genetic disorders in the Pakistani population. Genet Epidemiol, 33(8): 819-819.

2.597 0

78

Nawaz, S., Schuster, J. Wajid, M., Aslam., M. Tariq, M., Entesarian, M., Dahl, N. and Baig, S.M. 2009. WNT10A missense mutation causes a complete Odonto-onycho-dermal dysplasia (OODD). Eur J Hum Genet, 17(12):1600-1605.

4.349 49

7939. Farooq, M., Baig, SM. Aslam., M., Wajid, M., Hussain, M.S., Rasool, M., Qureshi, J.A., Hansen, L., Eiberg, H., Tommerup, N., Klaus, W.K. 2009. Compound heterozygosity in Pakistani MCPH families. Am J Med Genet Part A. 149A:926-930.

2.159 21

80 Rasool, M., Schuster, J., Aslam, M., Tariq, M., Ahmad, I., Ali. A., Entesarian, M., Dahl, N. and Baig, S.M. 2008. A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia. J Hum Genet, 53(10):894-8.

2.462 20

8141. Baig, S.M., Din, M.A., Hassan, H., Baig, J. M., Azhar, A., Aslam, M., Farooq, M., Hussain, M.S., Rasool, M., Anjum, I, Nawaz, S., Qureshi, J. A. Zaman, T. 2008. Prevention of β-thalassemia in a large Pakistani family through cascade testing. Community Genet,11:68-70.

1.793 9

82Iqbal, Z., Li-Juan, Z., Baig, S. M. 2008. First comprehensive study on pre-existing BCR-ABL KD mutations and subsequent imatinib resistance in CML patients. Value of pre-treatment genetic testing and implication inpatient-tailored therapy of leukemia. Annals of Oncology, 19:40-41.

7.040 0

8344. Iqbal, Z., Li-Juan, Z., Baig, S. M. 2008. First comprehensive study on pre-existing BCR-ABL KD mutations and subsequent imatinib resistance in CML patients. Value of pre-treatment genetic testing and implication inpatient-tailored therapy of leukemia. Annals of Oncology,

7.040 0

22

19:40-41. 8445. Baig, S.M., 2007. Molecular diagnosis of β-thalassemia by Multiplex

ARMS-PCR : A cost effective method for the developing countries. Prenat Diagn, 27(26): 280-281.

3.268 8

8547. Baig, S.M., Azhar, A., Hassan, H., Baig, J.M., Aslam, M., Din, M.A, Qureshi, J.A. and Zaman, T. 2006b. Prenatal diagnosis of β-thalassemia in Southern Punjab, Pakistan. Prenat Diagn, 26:903-905.

3.268 16

8649. Baig, S.M., Azhar, A., Hassan, H., Baig, J. M. Qureshi, J. A. et al. 2006. Spectrum of β-thalassemia mutations in various regions of Punjab and Islamabad, Pakistan: establishment of prenatal diagnosis. Haematologica (Hematol Hematol J), 91(3):13-15.

6.424 0

8751. Tadmouri, G.O., Tuzmen, S., Ozcelik, H., Ozer, A., Baig, S.M., Senga, E.B. and Basak, A.N. 1998. Molecular and population genetic analysis of beta-thalassemia in Turkey. Am. J. Hematol., 57(3):215-220.

3.798 59

8852. Iqbal, Z., Baig, S. M. 2006. Optimization of simple PCR assay for detection of globin gene deletions in alpha thalassemia. Haematologica, 91(supplement 3):136.

6.424 0

8953. Tuzmen, S., Tadmouri, G.O., Ozer, A., Baig, S.M., Ozcelik, H., Basaran, S. and Basak, A.N. 1996. Prenatal diagnosis of beta-thalassemia and sickle cell anemia in Turkey. Prenat Diagn, 16(3): 252-258.

3.268 20

90 Mahmood, A., Anwar, M., Ullah, N., Baig, S.M., and Wright, R.W. Jr. 1991. Pattern of sex steroids secretion and their relationship with embryo yield in Jersey cows superovulated with PMSG. Theriogenology, 35:513-520.

1.798 9

9154. Mahmood, S., Khurshid, S., Afzal, M.A., Naqvi, S.M.S., Baig, S.M. and Arslan, M. 1986. Changes in circulating levels of immunoreactive Follicle stimulating hormone, Luteinizing hormone and Testosterone during sexual development in the Rhesus monkey, macaca mulatta. Journal of Medical Primatology, 15:351-359.

0.819 5

9255. Baig, S.M., Anjum, S., Khan, S., Khanum, A., Qazi. M.H. and Haider, M.Z. 1992. Carcinoembryonic antigen (CEA) and beta human chorionic gonadotropin (-hCG) as markers in breast cancer. Pakistan Journal of Zoology, 24(1): 71-76.

0.33 2

9357. Baig, S.M., Khan, S., Anjum, S., Khanum, A., Haider. M.Z. and Qazi, M.H. 1991. Circulating levels of 17-Estradiol, Testosterone and Progesterone in postmenopausal breast cancer patients receiving anticancer chemotherapy. Pakistan Journal of Zoology, 23(4): 335-338.

0.33 2

9459. Anjum, S., Khan, S., Baig, S.M., Khanum, A., Haider. M.Z. and Qazi, M.H. 1991. Effect of chemotherapy on circulating steroid hormone levels in postoperative premenopausal breast cancer patients. Journal of Pakistan Medical Association, 41:296-298,

0.414 1

9561. Mahmood, A., Baig, S.M., Khan, M.N, Malik, S.A. and Khanum, A. 0.33 1

23

1991. Production and characterization of antisera against steroids in rabbits. Pakistan Journal of Zoology, 23(2):277-283.

9663. Baig, S.M., Khan, S., Anjum, S., Khanum, A., Haider. M.Z. and Qazi, M.H. 1991. Circulating levels of 17-Estradiol, Testosterone and Progesterone in postmenopausal breast cancer patients receiving anticancer chemotherapy. Pakistan Journal of Zoology, 23(4): 335-338.

0.33 1

97 Khan, S., Anjum, S., Baig, S.M., Khanum, A., Haider. M.Z. and Qazi, M.H. 1991. Studies on the in vitro and in vivo release of the hormonal steroids bound to a polymer base. Pakistan Journal of Zoology, 23(3): 263-273.

0.33 1

9865. Ali, A., Khan, M.M.R., Charania, B.A., Bhojani, F.A. and Baig, S.M. 1992. Impact of long term supply of iodized salt to the endemic goiter area. Journal of Pakistan Medical Association, 42(6): 138-140.

0.414 4

9967. Anjum, S., Khan, S., Baig, S.M., Khanum, A., Haider. M.Z. and Qazi, M.H. 1991. Effect of chemotherapy on circulating steroid hormone levels in postoperative premenopausal breast cancer patients. Journal of Pakistan Medical Association, 41:296-298.

0.4 1

100 Ali, A., Motiurrehman., Iqbal, A., Jabbar, A., Baig, S.M., Mahmood, A. 1992. Thyroid-Hormone profile of some iodine deficient residents of village Rumli Sharif, District Islamabad. Proceedings of Pakistan Congress of Zoology. 12:405-409.

0.33 1

101Ullah,N., Wright, R.W., Mehmood, A., Baig,S.M. 1991. Endocrine profile in relation to ovarian response, recovery rate and quality of embryos in Nili Ravi Buffalos treated with FSH. Proceedings of Pakistan Congress of Zoology.

0.33 0

Publications in National and International Journals with No Impact Factor

S. No.

Title Impact Factor

Citations

102 Hussain, G., Shahzad, A., Anwar, H., Baig, S.M., Shabbir, A. 2017. Epidemiological data of Neurological disorders burden in Pakistan and neighboring countries: PJNS, 12(4): 52-70

0 0

103 Hussain, G., Shahzad, A., Anwar, H., Sohail, M.U., Baig, S.M., Shabbir, A., Gonzalez de Aguilar, J.L., Iqbal, J. 2017. Neurological Disorder Burden in Faisalabad, Punjab-Pakistan: Data from the Major Tertiary Care Centers of the City. PJNS, Vol. 12 : Iss. 3, Article 2. Available at: https://ecommons.aku.edu/pjns/vol12/iss3/2

0 0

10469. Anjum, S, Azhar, A., Tariq, M., Baig, S.M. Naqvi, SMS, Raja, GK. 2014. GJB2 Gene Mutations Causing Hearing Loss in Consanguineous Pakistani Families. PJLSS 12(3):126-131.

0 0

10570. Sultan, N., Baig, S.M, Sheikh, M.A., Jamil, A., Rahman, S. .

2013. Autosomal recessive Retinitis pigmentosa is associated with missense mutation in CRB1 in a consanguineous Pakistani family. PJLSS, 11(2): 171-178.

0 0

10671. Rahim, M.K., Sabih, D., Baig, S.M., Azhar, A., Bakhtiar, S.M. 2009. 0 0

24

Prenatal diagnosis of β-thalassemia at MINAR Multan. Nisht Med J, 1 (2): 4-9.

10772. Baig, S.M., Rabbi, F., Hameed, U., Azhar, A., Zaman, T, Qureshi, J.A. et al. 2005. Molecular characterization of mutations causing β-thalassemia in Faisalabad Pakistan, using the amplification refractory mutation system (ARMS-PCR). Ind J Hum Genet, 11(2):80-83.

0 0

10873. Ahmad, N., Baig, S.M., Shah, W.A. Khattak, K.F., Khan, B. and Qureshi, J.A. 2004. Detection of HCV genotypes using molecular and radio-isotopic methods. World Journal of Nuclear Medicine, 3(3): 219-224.

0 0

109 Todehdehghan, F. and Baig, S.M. 1989. Serum LH, FSH and Estradiol levels in women using injectable contraceptive (Norigest) over long periods of time. Pakistan Journal of Medical Research, 28: 191-193.

0 0

110Ullah, N., Mahmood, A., Wright, R. W. Jr., and Baig, S. M. 1992. Endocrine profile in relation to ovarian response, recovery rate and quality of embryos in Nili-Ravi buffaloes treated with FSH. Buffalo Journal. 1:47-56.

0 0

Proceedings International (Selected)

1. Waseem, S.S., Moawia, A., Hussain, M.S., Noegel, A.A., Baig, S.M., Nürnberg, P. 2017. Emerging role of genetic modifiers in enhancing the severity of CENPJ mutation. 1st Cologne Neuroscience Day held on March 17, 2017, Cologne, Germany.

2. Hussain, M.S., Szczepanski, S., Baig, S.M., Nürnberg, P., Noegel, A.A. 2017. Role of KNL1 in brain development1st Cologne Neuroscience Day held on March 17, 2017, Cologne, Germany.

3. Farooq, M., Lindbæk, L., Nielsen, V.S., Mönnich, M., Mang, Y., Pedersen, L.B., Møllgaard, K., Lars Hansen, L., Kjaer, K.W., Baig, S.M ., Tommerup, N., Christensen, S.T., Larsen, L.A. Ribosomal RNA-processing protein 7 homolog A (RRP7A) is associated with primary microcephaly and localizes to the centrosome and primary cilia. American Society of Human Genetics 66th Annual Meeting, October 18-22, 2016, Vancouver, Canada.

4. Klar, J., Schuster, J., Mäbert, K., Khan, T., Malik, N.A., Tariq, M., Baig, S.M., Dahl, N. Exome sequencing as a diagnostic tool identifies a novel mutation associated with congenital generalized lipodystrophy. European Human Genetics Conference, June 8-11, 2013. Paris France.

5. Raykova, D., Klar, J., Azhar, A., Khan, T., Baig, S.M., Dahl, N. KRT74 mutation associated with autosomal recessive hair-nail ectodermal dysplasia. European Human Genetics Conference, June 8-11, 2013. Paris France.

6. J. Klar, M Sobol, K Mäbert, M. Tariq, M. Rasool, A. Ali, I. Ahmad, A Johansson, L Feuk, S.M. Baig, and N. Dahl. Defective ion transport in sweat glands cause generalized isolated anhidrosis. American Society of Human Genetics, USA, 2012.

7. Gating properties of a human disease-causing mutation in Ca(v)1.3 L-type calcium channels. Author(s): Koschak, A.; Baig, S. M.; Gebhart, M.;

25

Dafinger, C.; Nuernberg, G.; Brandt, N.; Engel, J.; Ali, A.; Ahmad, I.; Sinnegger-Brauns, M. J.; Mangoni, M. E.; Farooq, M.; Khan, H. U.; Nuernberg, P.; Bolz, H. J.; Striessnig, J. Society for Neuroscience Abstract Viewer and Itinerary Planner  Volume: 40 Published: 2010

8. Iqbal Z, Baig SM, et al. Presence of Prior-to-Treatment BCR-ABL Mutations ICD34+CD38- Stem Cells of Newly Diagnosed Chronic Phase CML Patients. 52 Am Society of Hematology Ann Meeting Orlando, Florida, US. Dec 5-7, 2010.

9. Ahmad, I., Tariq, M., Ali, A., Bakhtiar, M., Azhar, A., Baig, S.M. Inherited alopecia and ectodermal dysplasia in Pakistani Kindreds. European Society of Human Genetics (ESHG) Conference, May 31 – June 3, 2008, Barcelona Spain. EJHG 16(S2):290.

10. Genetic analysis of autosomal recessive primary microcephaly in Pakistani kindreds. Hussain, M. S., Baig, S. M., Farooq, M., Inayat, I. A., Kirst, E., Aslam, M., Wajid, M., Toilat, M. R., Qureshi, J. A., Nurnberg, P. European Society of Human Genetics (ESHG) Conference, May 31 – June 3, 2008, Barcelona Spain. EJHG 16(S2):328

11. Inayat, I.A., Azhar, A., Rabbi, F., Qureshi, J.A., Baig, S.M. Spectrum and regional specificity of -thalassemia mutations in various regions of Punjab, Pakistan.Genomic Disorders 2007, 21-23 March, 2007, p. 67, Wellcome Trust Conference Center, Hinxton, UK.

12. Hussain, M.S., Farooq, M., Rasool, M., Inayat, I.A., Nawaz, S., Qureshi, J.A., Baig, S.M. Locus heterogeneity study of autosomal recessive primary microcephaly in Pakistani kindreds. Genomic Disorders 2007, 21-23 March, 2007, p. 77, Wellcome Trust Conference Center, Hinxton, UK.

13. Baig, S. M., Zaman, T., Hameed, U., Rabbi, F., Bokhari, S. H., Baig, S., Hassan, K., Din, M. A., Azhar, A. and Qureshi, J. A. Molecular characterization of mutations causing β-thalassemia in Pakistan using amplification refractory mutation system (ARMS) and allele specific oligonucleotide (ASO) hybridization. Human Genome Variation Society (HGVS) Scientific and Annual General Meeting a Satellite Meeting of the American Society of Human Genetics Annual Meeting. 26-30 October 2004, Toronto, Canada.

14. Tadmouri, G.O, Tuzmen, S., Baig, S. M., Senga, E., Altay, C., Akar, N., Nisli, G., Yesilpak, A. and Basak, A.N. A molecular investigation of -thalassemia in Turkey: Is there a region dependent specificity? 7 th Annual meeting of the European Society of the Human Genetics (ESHG) and 7 th

annual Meeting of the Society of Human Genetics (GfH), Vol.2, p. 263, 1995, Germany.

15. Tadmouri, G.O, Tuzmen, S., Baig, S. M., Senga, E., Altay, C., Akar, N., Nisli, G., Yesilpak, A. and Basak, A.N. Prenatal diagnosis of -thalassemia in Turkey: present status and perspectives. 7 th Annual meeting of the European Society of the Human Genetics (ESHG) and 7 th

annual Meeting of the Society of Human Genetics (GfH), Vol.2, p. 167, 1995, Germany.

16. Alkan, S., Tuzmen, S., Baig, S. M., Tadmouri, G.O. and Basak, A.N. The ECL oligolabelling and detection system versus radioactive approach in dot-blot hybridization. 7th Annual meeting of the European Society of the Human Genetics (ESHG) and 7th annual Meeting of the Society of Human Genetics (GfH), Vol.2, p. 164, 1995, Germany.

26

17. Tuzmen, S., Tadmouri, G.O., Senga, E., Baig, S. M., Altay, C., Akar, N., Nisli, G., Yesilpak, A., Basaran, S., Aydinli, K. and Basak, A.N. Molecular pathology and prenatal diagnosis of -thalassemia in Turkey. In: H. Bialy, S. Black, Davies, S., Hassler, J., Hodgson, D.L., Oxender, J., Tooze. and W.J. Whelan (Eds)., Miami Biotechnology European Symposium, Advances in Gene Technology: Molecular Biology and Human Genetic Diseases, pp. 64, UK, IRL Pres at Oxford University Press, 1994.

International Symposia/Conferences (Selected)

1. Baig, SM. High incidence of inherited diseases in inbred Pakistani population: Use of genomic and bioinformatic tools for molecular characterization Beijing Genomic Institute (BIG), CAS, Beijing China. Oct 11, 2017.

2. Baig, SM. High incidence of inherited diseases in inbred Pakistani population: Use of genomic and bioinformatic tools for molecular characterization Institute of Material Sciences Ningbo University, China, Oct 14, 2017.

3. Ahmad, I, Aherrahrou, Z., Munz, M., Tobias Graf, T.,  Baig, SM., Erdmann. J. Next generation sequencing (NGS) of monogenic cardiovascular diseases in Pakistani families. 2nd research workshop, organized by Institute of Cardiogenetics, University of Luebeck, September 26, 2017 Germany.

4. Hussian, M.S., Szczepanski, S., Noegel, A.A., Baig, S.M., Nürnberg, P. A novel homozygous splicing mutation of KNL1 causes primary microcephaly in a large Pakistani family. Annual Meeting of the AGD 2016 in Potsdam, October 7-8, 2016 Organized by Gene diagnostic society.

5. Hussain, M.S., Baig, S.M., Neumann, S., Peche, V.S., Nürnberg, G., Farooq, M., Ilyas Ahmad, I., Alef, T., Hennies, H.C., Technau, M., Altmüller, J., Peter Frommolt, P., Thiele, H., Noegel, A.A., and Peter Nürnberg, P. “Paradigms of the centrosomal proteins in embryonic brain development” was presented in a meeting “centrosomes and spindle pole bodies” organized by EMBO, 30th September to 3rd of October 2014 at Lisbon Portugal.

6. Hussain, M.S., Baig, S.M., Neumann, S., Peche, V.S., Nürnberg, G. Farooq, M., Ahmad, M., Alef, T., Hennies, H.C., Technau, M., Altmüller, J., Frommolt, P., Thiele, H., Noegel, A.A, Nürnberg, P. A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function. International workshop entitled “Building a Centrosome” 10-13 March 2013, organized by “The Company of Biologists” at Wiston House, Steyning, West Sussex, UK.

7. Hussain, M.S., Baig, S.M., Neumann, S., Peche, V.S., Nürnberg, G., Farooq, M., Ahmad, I., Alef, T., Hennies, H.C., Technau, M., Altmüller, J., Frommolt, P., Thiele, H., Noegel, A.A., Nürnberg, P. A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed

27

Centrosomal Function German Society of Human Genetics Conference in Dresden, Germany, March 21-24, 2012, Dresden, Germany.

8. Hussain, M.S., Baig, S.M., Neumann, S., Peche, V.S., Nürnberg, G., Farooq, M., Ahmad, I., Alef, T., Hennies, H.C., Technau, M., Altmüller, J., Frommolt, P., Thiele, H., Noegel, A.A., Nürnberg, P. A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function. European Human Genetics Conference in Nürnberg, Germany June 23-26, 2012, organized by European Society of Human Genetics.

9. Tariq, M., Azhar, A., Klar, K., Ahmad, I., Bakhtiar, SM., Baig, SM., Dahl, N. Isolated autosomal recessive hypotrichosis in Pakistan caused by P2RY5 and LIPH gene mutations. European Human Genetics Conference, Gothenburg, Sweden. June 12-15, 2010.

10. Rehman, S., Hansen, L., Bakhtiar, SM., Tariq, M., Ahmad, I., Tommerup, N., Baig, SM. Molecular genetics of autosomal recessive mental retardation (ARMR) in consanguineous Pakistani families. European Human Genetics Conference, Gothenburg, Sweden. June 12-15, 2010.

11. Baig S.M. State of Genetic disorders in Pakistan. 18th International Genetic Epidemiology Society (IGES) Conference at Oahu, Hawaii, USA, 18-20 October 2009.

12. Azhar, A., Klar, J., Nawaz, S., Tariq, M., Ali. A., Ahmad, I., Rasool, M., Dahl, N., Baig, SM. Molecular Genetic studies of inherited alopecia. 59th

Annual meeting of American Society of Human Genetics (ASHG), Honolulu, Hawaii, USA Oct. 20-24, 2009.

13. Baig, SM., Klar, J., Azhar, A., Tariq, M., Ali, A., Ahmad, I., Schuster, J., Dahl, N., Nawaz, S. A novel homozygous missense variation in HR gene caused Atrichia with Papular lesions. 59th Annual meeting of American Society of Human Genetics (ASHG), Honolulu, Hawaii, Oct. 20-24, 2009.

14. Nawaz, S., Klar, J., Azhar, A., Tariq, M., Ali, A., Ahmad, I., Qureshi, JA., Schuster, J., Baig, S.M. A novel missense ABCA12 mutation leads to nonbullous congenital icthyosiform erythroderma (NIBCIE). 59 th

Annual meeting of American Society of Human Genetics (ASHG), Honolulu, Hawaii, USA Oct. 20-24, 2009.

15. Farooq, M., Hansen, L., Eiberg, E., Troelsen, JT., Boyd, M., Aslam, M., Hussain, M.S., Tariq, M., Ali, A., Ahmad, I., Tommerup, N., Kjaer, K.W., Baig, S.M. A specific interaction between a novel variant in the cis-acting sonic hedgehog regulatory sequence (ZRS) and transcription factor and its association with preaxial polydactyly with triphalangeal thumb. 59th Annual meeting of American Society of Human Genetics (ASHG), Honolulu, Hawaii, USA Oct. 20-24, 2009.

16. Bakhtiar, S.M., Sabih, D., Ibrahim, K., Azhar, A., Tariq, M., Hussain, M.S., Baig, S.M. First trimester prenatal diagnosis of β-thalassemia in Pakistan. 59th Annual meeting of American Society of Human Genetics (ASHG), Honolulu, Hawaii, Oct. 20-24, 2009.

17. Frojmark, A., Entasarian, M., Nawaz, A., Schuster, J., Klar, M., Rasso, M., Tariq, M., Ahmad, I., Baig, S.M., Dahl, N. Isolated autosomal recessive nail dysplasia with pachonycla and onycholysis in a consanguineous Pakistani family. A novel form of nail dysplasia that maps to chromosome 8. 58th Annual meeting of the American Society of Human Genetics (ASHG), Philadelphia Pennsylvania, Nov. 11-15, 2008.

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18. Klar, J., Rasool, M., Tariq, M., Ali, A., Ahmad, I., Baig, S.M., Dahl, N. Isolated generalized congenital anhidrosis maps to chromosome 12p11-p12. 58th Annual meeting of the American Society of Human Genetics (ASHG), Philadelphia Pennsylvania, Nov. 11-15, 2008.

19. Baig SM, Bakhtiar, M. Controlling monogenic disorders through cascade testing, prenatal diagnosis and genetic counseling in a highly consanguineous population. 3rd international workshop on “Genetics, history and public understanding” Barcelona Spain (30-31 May 2008).

20. Farooq, M., Baig, S.M., Hansen, L., Hussian, M.S., Aslam, M., Wajid, M., RAsoo, M., Qureshi, J.A., Eiberg, H,. Tommerup, N., Kjaer, K.W. First report of compound heterozygous mutations identified in the ASPM gene in two Pakistani MCPH families. Genomic Disorders, 17-20 March, 2008, Wellcome Trust Conference Centre, Hinxton, UK.

21. Azhar, A., Nawaz, S., Rasool, M. Baig, S.M. Molecular Genetic analysis of three autosomal recessive skin disorders in Pakistan: Ectodermal dysplasia, Alopecia and Nail dysplasia. International conference on Medical and Community Genetics, 15-17 February, 2008, Chandigarh, India.

22. Ahmad, I., Rehman, S., Tariq, M., Ali, A., Bakhtiar, M., Azhar, A., Baig, S.M. Inherited alopecia and ectodermal dysplasia in families from Southern Punjab and Northern Pakistan. International conference on Medical and Community Genetics, 15-17 February, 2008, Chandigarh, India.

23. Rehman, S., Anjum,I., Ahmad, I., Tariq, M., Ali, A., Qureshi, J.A. Baig, S.M. Molecular genetics of autosomal recessive primary microcephaly (MCPH) in the Pakistani families. International conference on Medical and Community Genetics, 15-17 February, 2008, Chandigarh, India.

24. Iqbal , Z., Li-Juan Z., Baig S.M., Aziz, Z., Shah, I.H., Khalid, M., Tanveer, A. First comprehensive study on pre-existing BCR-ABL KD mutations and subsequent Imatinib resistance in CML patients: Value of pre-treatment genetic testing and implication in patient tailored therapy of Leukemia. 6th Internatinasl symposium on targeted anti-cancer therapies (TAT), 20-22 March, 2008, Bethesda, USA.

25. Iqbal , Z., Baig S.M., Aziz, Z., Shah, I.H., Khalid, M., Iqbal, M., Tanveer, A. Interferon prior to imatinib therapy eradicates pre-existing BCR-ABL ATP-binding domain mutations First comprehensive study on pre-existing BCR-ABL KD mutations conferring natural imatinib resistance and leads to more sustained/durable molecular response in chronic myeloid leukemia. 6th International symposium on targeted anti-cancer therapies (TAT), 20-22 March, 2008, Bethesda, USA.

26. Ahmed, I., Tariq, M., Ali, A., Bakhtiar, M., Azhar, A., Baig S.M. Inherited alopecia and ectodermal dysplasia in Pakistani kindereds. Accepted for presentation in European Human Genetics Conference, May 31-June 3, 2008, CCIB, Barcelona, Spain.

27. Hussain, M.S., Farooq, M., Aslam, M., Wajid, M., Qureshi, J.A., Baig, S.M., Nurnberg, P. Genetic analysis of autosomal recessive microcephaly in Paksitani kindreds. Accepted for presentation in European Human Genetics Conference, May 31-June 3, 2008, CCIB, Barcelona, Spain.

28. Rehman, S., Tariq, M., Ahmad, I., Ali, A., Baig, S.M. Genetic analysis of autosomal recessive primary microcephaly (MCPH) in Pakistani families.

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ACGA-HKSMG international conference on Genetic and Genomic Medicine. 08-11 June, 2008, Hong Kong.

29. Baig, S.M., Din, M.A., Hassan, H., Baig, J. M., Azhar, A., Aslam, M., Qureshi, J. A. Zaman, T. 2005. Inductive screening of β-thalassemia in a large consanguineous Pakistani family. Meeting of the American Society of Human Genetics Annual Meeting. 9-13 October 2006, New Orleans, Lousiana, USA, Abstract No. 2015/A.

National/International Symposia/Conferences (Selected)

1. Baig, SM. International Conference, PCSIR Lahore, April 26, 2018.2. Baig, SM. International conference, Virtual University Lahore, March 29,

2018.3. Baig, SM. International Conference, PC Lahore, October 23-24, 2017.4. Baig, SM. International Symposium, IBB, Punjab University Lahore,

October 23-24, 2017.5. Big, SM. International Symposium on Genomics, Center for Human

Genetics, Hazara Univ, Sept. 27-29, 20176. Baig SM. International symposium “Human Population & Disease

Genomics – Dr. S. Qasim Mehdi Memorial Symposium” COMSTECH, Islamabad, April 10-12, 2017.

7. Khan, N.S., Tipu, I., Siddiqi, S., Begum, B., Rizvi, K., Baig, SM., Khanum, A. PCR based screening of mutations in nf1 gene in Pakistani population. International symposium on Biotechnology, Institute of Biotechnology and Genetic Engineering, University of Sindh, Nov. 2009, Jamshoro, Pakistan.

8. Bakhtiar, M., Azhar, A., Tariq, M., Ali, A., Baig, S.M. Establishemnt of first trimester prenatal diagnosis through chorionic villus sampling. Pakistan Society of Haematology, 11th Annual Haematology Conference, Feb 14-15th 2009, Peshawar, Pakistan.

9. Farooq, M., Kjaer, K.W., Tommerup, N., Baig, S.M. 9th PSBMB conference 17-20 Dec. 2008. Molecular Analysis of Autosomal Dominant Limb Disorders and Identification of Novel Mutations in GLI3 Gene. Department of Biochemistry, University of Arid Agriculture, Rawalpindi, Pakistan.

10. Baig, S.M., Bakhtiar, M. 9th PSBMB conference 17-20 Dec. 2008. Controlling Monogenic Disorders through Cascade Testing, Prenatal Diagnosis and Genetic Counseling in a Highly Consanguineous Population. Department of Biochemistry, University of Arid Agriculture, Rawalpindi, Pakistan.

11. Nawaz, S., Dahl, N., Baig S.M. 9th PSBMB conference 17-20 Dec. 2008. A Novel Homozygous Missense ABCA12 Mutation Leads To NBCIE. Department of Biochemistry, University of Arid Agriculture, Rawalpindi, Pakistan.

12. Rasool. M., Schuster, J., Aslam, M., Tariq, M., Ahmad,I., Ali, A., Entesarian, M., Dahl, N., Baig, S.M. 9 th PSBMB conference 17-20 Dec. 2008. A Novel Missense Mutation (M364T) in the Ectodysplasin A Associated with X-Linked Recessive Isolated Hypodontia. Department of Biochemistry, University of Arid Agriculture, Rawalpindi, Pakistan.

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13. Baig, S.M., Nawaz, S., Azhar, A., Tariq, M., Bakhtiar, M., Ali, A., Rasool, M. Molecular genetic analysis of inherited skin disorders in consanguineous Pakistani families. 2nd National Conference on Health Biotechnology, 27-28 May, 2008. National Commission on Biotechnology, Islamabad.

14. Azhar, A., Nawaz, S., Rasool, M., Baig S.M. Molecular genetic analysis of some skin disorders in Pakistani populace. Nov. 4-8, 2007, 4 th

International Symposium and 1st Pak-China-Iran International Conference on Biotechnology, Bioengineering and Biophysical Chemistry, Institute of Biotechnology and Genetic Engineering, University of Sindh, Jamshoro, Pakistan.

15. Farooq, M., Baig, S. M., et al. Genetic analysis of autosomal recessive primary microcephaly (MCPH) families in Southern Punjab population. National Symposium on ‘Biotechnology for economic prosperity’ July 24-26, 2006, Nathiagali, Pakistan.

16. Baig, S.M., Din, M.A., Hassan, H., Baig, J. M., Azhar, A., Aslam, M., Qureshi, J. A. Zaman, T.A distinct distribution pattern of β-thalassemia mutations in the D.G. Khan area of Pakistan. National Symposium on Biochemistry, April 2005. Karachi University, Karachi. Pakistan.

17. Baig, S. M. et al. Spectrum of β-thalassemia mutations in the patients attending Children Hospital Pakistan Institute of Medical Sciences (PIMS) Islamabad for blood transfusion. 29-31 March, 2005. Pakistan Institute of Medical Sciences (PIMS), Children Hospital Islamabad.

18. Baig, S. M., Saleem, Y., Ahmad, N. and Qureshi, J. A. Study of Hepatitis C Virus Genotypes Prevalent in Pakistan. First National Conference on Health Biotechnology, 27-28 Jan, 2005, Lahore.

19. Baig, S. M., Zaman, T., Hameed, U., Rabbi, F., Bokhari, H., Baig, S.M, Hassan, K., Amin-Ud-Din, M., Azhar, A. and Qureshi, J. A. Molecular characterization and regional specificity of mutations causing β-thalassemia in the Pakistani population. 4th International Science Conference, 6-9 October, 2004. The University of Azad Jammu & Kashmir, Muzaffarabad, AJK.

20. Zaman, T., Hameed, U., Rabbi, F., Bokhari, H., Azhar, A., Qureshi, J.A. & Baig, S. M. Spectrum of mutations causing -thalassemia in Faisalabad Pakistan. 4th International Science Conference, 6-9 October, 2004. The University of Azad Jammu & Kashmir, Muzaffarabad, AJK.

21. Participated in IAEA-PAEC-HEC Regional Training Course on 13C Urea Breath Test and Conference on Helicobacter Pylori. 26-30 April, 2004, Islamabad, Pakistan.

22. Baig, S.M., Hameed, U., Zaman, T., Rabbi, F., Bokhari, H., Baig, S., Hassan, K. and Qureshi, J.A. Amplification refractory mutation system (ARMS) and allele specific oligonucleotide (ASO) hybridization for the detection of mutations causing β-thalassemia in Pakistan. 17th

International biennial conference of Pakistan Paediatric Association, 19th

–22nd February 2004, Lahore Pakistan.23. Khalid, S., Shahzad, I., Baig, S.M., Ali, S., Qureshi, A.A. and Khanum,

A. Cloning of Somatotropin gene from indigenous buffalo breed: Neeli Ravi. 2nd International symposium on Biotechnology, Institute of Biotechnology and Genetic Engineering, University of Sindh, January 19-21, 2004, Jamshoro, Pakistan.

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Family of Shahid M BaigDr. Shehla Anjum, PhD (Wife): Consultant Biochemist and Molecular Biologist at Children’s Hospital, Pakistan Institute of Medical Sciences (PIMS), G-8/3, Islamabad.Dr. Mehr un Nisa Shahid Baig, MBBS (Daughter): Postgraduate scholar at Pakistan Institute of Medical Sciences (PIMS), Islamabad.Dr. Saira Shahid Baig, MBBS (Daughter): House Physician at Pakistan Institute of Medical Sciences (PIMS), Islamabad.Dr. Aliza Shahid Baig (Daughter): 2nd year’s student of MBBS at Shifa College of Medicine, Islamabad.

Academic and Research Referees National:Prof. Wasim Ahmad, Meritorious Professor, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan Cell Phone +92 3005357427 Email: wahmad@qau.edu.pk, wahmadqau@gmail.comProf. Habib Ahmaed, Vice Chancellor, Islamia College University, Peshawar. Cell phone: 0333 9991959Email: drhahmad@gmail.com Prof. Muhammad Idrees, Vice Chancellor, Hazara University, Mansehra. Cell Phone: 0321 4769212, Email: idrees.khan96@yahoo.comInternational:Prof. Niklas Dahl: Director, Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden. niklas.dahl@igp.uu.seProf. Niels Tommerup: Director, PANUM Institute, WJC, Department of Cellular and Molecular Medicine, Copenhagen University, Copenhagen Denmark. ntommerup@sund.ku.dk Prof. Peter Nuernberg: Director, Cologne Center for Genomics (CCG), Department of Human Genetics, Cologne University, Germany. nuernberg@uni-koeln.de

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