Dr. Musharraf Jelani
Biography
Prof. Dr. Musharraf Jelani is a molecular geneticist, human geneticist, academician, and researcher with over two decades of experience in teaching, research, and scientific leadership. His research focuses on human genetics, rare genetic disorders, molecular diagnostics, whole exome sequencing, precision medicine, bioinformatics, and translational genomics. His work has significantly advanced the understanding of inherited disorders and contributed to improving genetic healthcare services in Pakistan.
His research has led to the discovery of seven novel human disease-associated genes, reported for the first time worldwide, representing a significant contribution to the field of medical genetics. He has established cost-effective molecular genetic testing for β-thalassemia and has analyzed more than 400 patients with genetic disorders from Khyber Pakhtunkhwa, facilitating accurate diagnosis, genetic counselling, and disease management.
Prof. Jelani has actively collaborated with international researchers in the fields of infertility, neurology, and ophthalmic genetics, promoting multidisciplinary and translational research. He has published more than 60 peer-reviewed research articles in international journals and serves on the editorial boards of journals specializing in common and rare genetic disorders. As an academic mentor, he has supervised over 40 MPhil and PhD scholars, contributing to the development of the next generation of researchers in molecular biology and human genetics.
Prof. Jelani remains committed to advancing molecular genetics, precision medicine, and genomic research through innovation, international collaboration, and excellence in teaching, research, and community service.
2004: MSc Biochemistry/Molecular Biology, QAU Isalamabad, Pakistan
2006: MPhil Biochemistry/Molecular Biology, QAU Isalamabad, Pakistan
2011: PhD Human Molecular Genetics, QAU Islamabad, Pakistan 2011-2012: Assistant Professor Khyber Medical University, Peshawar, Pakistan 2013-2018: Research Scientist King Abdulaziz University, Jeddah, Saudi Arabia 2018-2025: Associate Professor, Centre for Omic Sciences, Islamia College Peshawar, Pakistan
2025 to date: Professor Molecular Biology & Genetics, Institute of Basic Medical Sciences, Khyber Medical Univeristy, Peshawar, Pakistan
Research Interests
Research Interests:
Rare Diseases Genetics and Genomics, Genetic Counselling, Molecular Diagnostics, Next Generation Sequencing and Data Analysis
Education:
2004: MSc Biochemistry/Molecular Biology, QAU Islamabad, Pakistan
2006: MPhil Biochemistry/Molecular Biology, QAU Islamabad, Pakistan
2011: PhD Human Molecular Genetics, QAU Islamabad, Pakistan
Employment:
2011-2012: Assistant Professor Khyber Medical University, Peshawar, Pakistan
2013-2018: Research Scientist King Abdulaziz University, Jeddah, Saudi Arabia
2018-2025: Associate Professor, Centre for Omic Sciences, Islamia College Peshawar
2025 to date: Professor Molecular Biology & Genetics, Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan
Funding:
Identification of Genetic Determinants of Congenital Heart Malformation in a Consanguineous Pakistani Cohort via Integrated genomic Sequencing (Project # 115190-10)
Research Publications:
1. Molecular Characterization of HBB Gene Variations in Beta-Thalassemia Patients from Khyber Pakhtunkhwa, Pakistan
Journal: Thalassemia Reports | Date: Jul 2026 | DOI: 10.3390/THALASSREP16030014
Authors (10): Shahzad Ahmad; Laiba Khan ... Musharraf Jelani
2. The genetic spectrum of achromatopsia in consanguineous families: insights from Whole exome sequencing across 15 affected individuals
Journal: Ophthalmic Genetics | Date: May 2026 | DOI: 10.1080/13816810.2026.2651186 | WOS: WOS:001761419800001
Authors (19): Sonehra; Zaman, Qaiser ... Jelani, Musharraf
3. Involvement of CACNA2D2 in developmental and epileptic encephalopathy through disruption of calcium channel functionality and synaptic function
Journal: European Journal of Human Genetics | Date: Nov 2025 | WOS: WOS:001671157904029
Authors (37): Essid, Miriam; Haddad, Sabrine ... Lesca, Gaetan
4. Whole exome sequencing: Unlocking the molecular diagnostic odyssey in Pakhtun ethnic group of Pakistani population
Journal: Gene | Date: Aug 2025 | DOI: 10.1016/J.GENE.2025.149586 | WOS: WOS:001499303600001
Authors (7): Zaman, Qaiser; Alharthi, Mohammed Turki Hussain ... Jelani, Musharraf
5. Thalidomide confers therapeutic benefit in beta thalassemia patients by enhancing hemoglobin and hematopoietic gene expression: A non-randomized clinical trial
Journal: Blood Cells, Molecules, and Diseases | Date: Jul 2025 | DOI: 10.1016/J.BCMD.2025.102936 | WOS: WOS:001502549000001
Authors (15): Rahman, Inayat Ur; Khan, Muhammad Tariq Masood ... Siraj, Sami
6. Whole exome sequencing in 33 patients revealed 4 novel variants in 11 limbs-girdle muscular dystrophy families
Journal: Gene Reports | Date: Jun 2025 | DOI: 10.1016/J.GENREP.2025.102218 | WOS: WOS:001467200200001
Authors (21): Sonehra; Ahmed, Ishtiaq ... Zaman, Qaiser
7. Pathogenic variants identification in primary congenital glaucoma patients using whole exome sequencing
Journal: Scientific Reports | Date: Apr 2025 | DOI: 10.1038/S41598-025-85913-3 | WOS: WOS:001462676200005
Authors (11): Ahmad, Shahzad; Gandapur, Muhammad Saleem ... Khan, Taj Ali
8. Molecular characterization of autosomal recessive Glycogen storage disease type Ib in a Pakistani family
Journal: Khyber Medical University Journal | Date: Jan 2025 | DOI: 10.35845/KMUJ.2025.23808 | WOS: WOS:001526667500005
Authors (4): Nazir, Zeeshan; Jelani, Musharraf ... Alam, Fakhar
9. A homozygous variant in ARHGAP39 is associated with lethal cerebellar vermis hypoplasia in a consanguineous Saudi family
Journal: Scientific Reports | Date: Oct 2024 | DOI: 10.1038/S41598-024-77541-0 | WOS: WOS:001342770900169
Authors (6): Alayoubi, Abdulfatah M.; Alfadhli, Fatima ... Basit, Sulman
10. Unveiling genetics of non-syndromic albinism using whole exome sequencing: A comprehensive study of TYR, TYRP1, OCA2 and MC1R genes in 17 families
Journal: Gene | Date: Feb 2024 | DOI: 10.1016/J.GENE.2023.147986 | WOS: WOS:001130417500001
Authors (26): Zaman, Qaiser; Khan, Jamshid ... Naseer, Muhammad Imran
11. Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families
Journal: Journal of Gene Medicine | Date: Oct 2023 | DOI: 10.1002/JGM.3522 | WOS: WOS:000978384200001
Authors (15): Zaman, Qaiser; Iftikhar, Aiman ... Jelani, Musharraf
12. Whole exome sequencing identified five novel variants in CNTN2, CARS2, ARSA, and CLCN4 leading to epilepsy in consanguineous families
Journal: Frontiers in Genetics | Date: Jun 2023 | DOI: 10.3389/FGENE.2023.1185065 | WOS: WOS:001016805400001
Authors (15): Abdulkareem, Angham Abdulrhman; Zaman, Qaiser ... Jelani, Musharraf
13. Phenotypic Classification of Eye Colour and Developmental Validation of the Irisplex System on Population Living in Malakand Division, Pakistan
Journal: Biomedicines | Date: Apr 2023 | DOI: 10.3390/BIOMEDICINES11041228 | WOS: WOS:000979061100001
Authors (12): Rahat, Murad Ali; Akbar, Fazal ... Israr, Muhammad
14. A Novel Homozygous Nonsense Variant in the DYM Underlies Dyggve-Melchior-Clausen Syndrome in Large Consanguineous Family
Journal: Genes | Date: Feb 2023 | DOI: 10.3390/GENES14020510 | WOS: WOS:000939272600001
Authors (12): Bakar, Abu; Shams, Sulaiman ... Khan, Bushra
15. Novel Variants in MPV17, PRX, GJB1, and SACS Cause Charcot-Marie-Tooth and Spastic Ataxia of Charlevoix-Saguenay Type Diseases
Journal: Genes | Date: Feb 2023 | DOI: 10.3390/GENES14020328 | WOS: WOS:000945162700001
Authors (16): Zaman, Qaiser; Khan, Muhammad Abbas ... Jelani, Musharraf
16. Report of Hermansky-Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes
Journal: Genes | Date: Jan 2023 | DOI: 10.3390/GENES14010145 | WOS: WOS:000918173800001
Authors (14): Zaman, Qaiser; Sadeeda ... Naseer, Muhammad Imran
17. Whole exome sequencing identifies a novel compound heterozygous GFM1 variant underlying developmental delay, dystonia, polymicrogyria, and severe intellectual disability in a Pakhtun family
Journal: American Journal of Medical Genetics Part A | Date: Sep 2022 | DOI: 10.1002/AJMG.A.62856 | WOS: WOS:000811085700001
Authors (14): Khan, Atta Ullah; Khan, Ibrar ... Jelani, Musharraf
Citations: 10
18. Association of cytochromes P450 3A422 and 3A53 genotypes and polymorphism with response to simvastatin in hypercholesterolemia patients
Journal: Plos One | Date: Jul 2022 | DOI: 10.1371/JOURNAL.PONE.0260824 | WOS: WOS:000944166200011
Authors (8): Elalem, Elbatool G. G.; Jelani, Musharraf ... Damanhouri, Zoheir A. A.
19. Biallelic inheritance in a single Pakistani family with intellectual disability implicates new candidate gene RDH14
Journal: Scientific Reports | Date: Nov 2021 | DOI: 10.1038/S41598-021-02599-Z | WOS: WOS:000724479000022
Authors (11): Pastore, Stephen F.; Muhammad, Tahir ... Vincent, John B.
20. A novel variant in the DSE gene leads to Ehlers-Danlos musculocontractural type 2 in a Pakistani family
Journal: Congenital Anomalies | Date: Sep 2021 | DOI: 10.1111/CGA.12436 | WOS: WOS:000672436400001
Authors (13): Ullah, Ikram; Aamir, Muhammad ... Houlden, Henry
21. Whole Exome Sequencing Confirms Molecular Diagnostics of Three Pakhtun Families With Autosomal Recessive Epidermolysis Bullosa
Journal: Frontiers in Pediatrics | Date: Aug 2021 | DOI: 10.3389/FPED.2021.727288 | WOS: WOS:000687390600001
Authors (9): Fozia, Fozia; Nazli, Rubina ... Wasif, Naveed
22. Two missense mutations in GPNMB cause autosomal recessive amyloidosis cutis dyschromica in the consanguineous pakistani families
Journal: Genes & Genomics | Date: May 2021 | DOI: 10.1007/S13258-021-01071-6 | WOS: WOS:000626808200001
Authors (5): Rahman, Obaid Ur; Kim, Jeena ... Kang, Changsoo
23. Whole exome sequencing reveals a homozygous SGCB variant in a Pakhtun family with limb girdle muscular dystrophy (LGMDR4) phenotype
Journal: Gene Reports | Date: Mar 2021 | DOI: 10.1016/J.GENREP.2020.101014 | WOS: WOS:000621112300014
Authors (12): Tariq, Muhammad; Latif, Muhammad ... Jelani, Musharraf
24. Whole exome sequencing identified a novel missense alteration in CC2D2A causing Joubert syndrome 9 in a Pakhtun family
Journal: Journal of Gene Medicine | Date: Jan 2021 | DOI: 10.1002/JGM.3279 | WOS: WOS:000584542000001
Authors (8): Khan, Muhammad Ismail; Latif, Muhammad ... Jelani, Musharraf
25. Genetic variations in drug-metabolizing enzyme CYP2C9 among major ethnic groups of Pakistani population
Journal: Gene | Date: Jul 2020 | DOI: 10.1016/J.GENE.2020.144659 | WOS: WOS:000530711400009
Authors (9): Hizbullah; Ahmed, Sagheer ... Khan, Asifullah
26. Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families
Journal: Journal of Gene Medicine | Date: May 2020 | DOI: 10.1002/JGM.3167 | WOS: WOS:000529407400002
Authors (10): Ali, Ghazanfar; Awan, Naheed Bashir ... Jelani, Musharraf
27. Novel missense alteration in LRP4 gene underlies Cenani-Lenz syndactyly syndrome in a consanguineous family
Journal: Journal of Gene Medicine | Date: Jan 2020 | DOI: 10.1002/JGM.3143 | WOS: WOS:000505720700001
Authors (6): Alrayes, Nuha; Aziz, Abdul ... Wali, Abdul
Citations: 6
28. A recurrent missense mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia in two consanguineous Kashmiri families
Journal: Journal of Gene Medicine | Date: Sep 2019 | DOI: 10.1002/JGM.3113 | WOS: WOS:000480463800001
Authors (5): Sadia; Foo, Jia Nee ... Ali, Ghazanfar
29. Novel insertion and a previously reported nonsense variant of ALOXE3 gene lead to autosomal recessive ichthyosis in two Balochi families
Journal: Congenital Anomalies | Date: Sep 2019 | DOI: 10.1111/CGA.12311 | WOS: WOS:000483740900005
Authors (7): Ijaz, Ambreen; Jelani, Musharraf ... Wali, Abdul
30. Novel compound heterozygous and homozygous variants of laminin subunit β3 gene underlie non-Herlitz junctional epidermolysis bullosa in two paternal half-brothers from Saudi Arabia
Journal: Congenital Anomalies | Date: May 2019 | DOI: 10.1111/CGA.12294 | WOS: WOS:000466031900006
Authors (11): Al-Zahrani, Hams S.; Al-Tala, Saeed ... Jelani, Musharraf
31. A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities
Journal: Brain | Date: May 2019 | DOI: 10.1093/BRAIN/AWZ075 | WOS: WOS:000481420000019
Authors (15): Jelani, Musharraf; Dooley, Hannah C. ... Nasir, Jamal
32. Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation
Journal: Frontiers in Pediatrics | Date: Feb 2019 | DOI: 10.3389/FPED.2019.00044 | WOS: WOS:000459299700001
Authors (8): Alallasi, Sami Raja; Kokandi, Amal A. ... Jelani, Musharraf
33. Whole-exome sequencing analysis reveals co-segregation of a COL20A1 missense mutation in a Pakistani family with striate palmoplantar keratoderma
Journal: Genes & Genomics | Date: Jul 2018 | DOI: 10.1007/S13258-018-0695-Z | WOS: WOS:000435992700011
Authors (7): Khan, Muhammad Ismail; Choi, Soyeon ... Kang, Changsoo
34. The Prevalence of APOL1 Gene Variants in a Cohort of Renal Disease Patients in Western Saudi Arabia
Journal: Saudi Journal of Kidney Diseases and Transplantation | Date: Jul 2018 | DOI: 10.4103/1319-2442.239658 | WOS: WOS:000443186100005
Authors (7): Adam, Soheir; Badawi, Maha ... Kashqari, Abdullah
35. Selective glycosidase inhibitors: A patent review (2012-present)
Journal: International Journal of Biological Macromolecules | Date: May 2018 | DOI: 10.1016/J.IJBIOMAC.2017.12.148 | WOS: WOS:000429391000011
Authors (6): Wadood, Abdul; Ghufran, Mehreen ... Uddin, Reaz
36. A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features
Journal: Scientific Reports | Date: Feb 2018 | DOI: 10.1038/S41598-018-20658-W | WOS: WOS:000423787500028
Authors (10): Mohamoud, Hussein Sheikh; Ahmed, Saleem ... Nasir, Jamal
37. Subtractive genome analysis for in silico identification and characterization of novel drug targets in Streptococcus pneumonia strain JJA
Journal: Microbial Pathogenesis | Date: Feb 2018 | DOI: 10.1016/J.MICPATH.2017.12.063 | WOS: WOS:000429064600029
Authors (7): Wadood, Abdul; Jamal, Alam ... Azam, Syed Sikander
38. Novel splice site mutation in EIF2AK3 gene causes Wolcott-Rallison syndrome in a consanguineous family from Saudi Arabia
Journal: Congenital Anomalies | Date: Jan 2018 | DOI: 10.1111/CGA.12217 | WOS: WOS:000419049400008
Authors (6): Al-Aama, Jumana Yousuf; Al-Zahrani, Hams Saeed ... Ahmed, Saleem
39. Seismic Tomography Velocity Modelling of Seaward Dipping Reflectors in the Orange Basin, Off Namibia Field, South Africa
Journal: Saint Petersburg | Date: Jun 2017 | DOI: 10.3997/2214-4609.201700698
Authors (2): M.A.A.M. Jelani; A.D. Booth
40. Seismic Critical Reflection Analysis - Constraining Thomsen Anisotropy Parameters in the τ-p Domain
Journal: Saint Petersburg | Date: Jun 2017 | DOI: 10.3997/2214-4609.201701405
Authors (3): M.A.A.M. Jelani; D.A. Angus; A.D. Booth
41. Prognostic Stratification of Acute Myeloid Leukemia and Mylodysplastic Syndrome Patients on the Basis of Genetic Variations
Journal: Blood | Date: Dec 2016 | DOI: 10.1182/BLOOD.V128.22.5239.5239 | WOS: WOS:000394452702213
Authors (12): Ali, Muhammad; Basit, Sulman ... Taj, Abid Sohail
42. A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family
Journal: JCRPE Journal of Clinical Research in Pediatric Endocrinology | Date: Dec 2016 | DOI: 10.4274/JCRPE.2717 | WOS: WOS:000393040300015
Authors (6): Dursun, Fatma; Mohamoud, Hussein Sheikh Ali ... Kirmizibekmez, Heves
43. Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon-Lefevre syndrome in a Saudi family
Journal: Saudi Journal of Biological Sciences | Date: Sep 2016 | DOI: 10.1016/J.SJBS.2015.06.007 | WOS: WOS:000381330500003
Authors (9): Alkhiary, Yaser Mohammad; Jelani, Musharraf ... Al-Aama, Jumana Yousuf
44. A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family
Journal: Archives of Oral Biology | Date: Jul 2016 | DOI: 10.1016/J.ARCHORALBIO.2016.03.012 | WOS: WOS:000375508400005
Authors (10): Jelani, Musharraf; Kang, Changsoo ... Alkhiary, Yaser Mohammad
45. Dependency of AVO and AVOA Signature for long-offset P-wave Seismic Reflections in the Vicinity of Volcanic Structures
Journal: EAGE Annual Conference & Exhibition | Date: May 2016 | DOI: 10.3997/2214-4609.201600712
Authors (2): M.A.A.M. Jelani; D. Angus
46. The alkylglycerol monooxygenase (AGMO) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family
Journal: Journal of the Neurological Sciences | Date: Apr 2016 | DOI: 10.1016/J.JNS.2016.02.063 | WOS: WOS:000374078200047
Authors (10): Alrayes, Nuha; Mohamoud, Hussein Sheikh Ali ... Jelani, Musharraf
47. Whole exome analysis reveals a novel missense PNPLA1 variant that causes autosomal recessive congenital ichthyosis in a Pakistani family
Journal: Journal of Dermatological Science | Date: Apr 2016 | DOI: 10.1016/J.JDERMSCI.2015.12.012 | WOS: WOS:000372766800006
Authors (7): Lee, Eunji; Rahman, Obaid Ur ... Jelani, Musharraf
48. Familial Primary Localized Cutaneous Amyloidosis Results from Either Dominant or Recessive Mutations in OSMR
Journal: Acta Dermato-Venereologica | Date: Nov 2015 | DOI: 10.2340/00015555-2104 | WOS: WOS:000364620500023
Authors (11): Wali, Abdul; Liu, Lu ... Betz, Regina C.
49. Whole-exome sequencing identifies a novel LRAT mutation underlying retinitis punctata albescens in a consanguineous Pakistani family
Journal: Genes & Genomics | Date: Oct 2015 | DOI: 10.1007/S13258-015-0311-4 | WOS: WOS:000362020200005
Authors (6): Jelani, Musharraf; Jeon, Miyeon ... Kang, Changsoo
50. Identification of Two Homozygous Sequence Variants in the COL7A1 Gene Underlying Dystrophic Epidermolysis Bullosa by Whole-Exome Analysis in a Consanguineous Family
Journal: Annals of Human Genetics | Date: Sep 2015 | DOI: 10.1111/AHG.12123 | WOS: WOS:000360092800005
Authors (9): Serafi, Rehab; Jelani, Musharraf ... Al-Aama, Jumana Y.
51. Case of Sjogren-Larsson syndrome with a large deletion in the ALDH3A2 gene confirmed by single nucleotide polymorphism array analysis
Journal: The Journal of Dermatology | Date: Jul 2015 | DOI: 10.1111/1346-8138.12861 | WOS: WOS:000357327600009
Authors (5): Gaboon, Nagwa E. A.; Jelani, Musharraf ... Al-Aama, Jumana Y.
52. Truncating mutation in intracellular phospholipase A1 gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54)
Journal: BMC Research Notes | Date: Jun 2015 | DOI: 10.1186/S13104-015-1227-4
Authors (9): Nuha Alrayes; Hussein Sheikh Ali Mohamoud ... Jamal Nasir
53. Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3
Journal: Journal of the Neurological Sciences | Date: Jun 2015 | DOI: 10.1016/J.JNS.2015.04.038 | WOS: WOS:000356127800026
Authors (10): Ahmed, Saleem; Jelani, Musharraf ... Al-Aama, Jumana Yousuf
54. Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family
Journal: European Journal of Medical Genetics | Date: Apr 2015 | DOI: 10.1016/J.EJMG.2015.02.002 | WOS: WOS:000353995500004
Authors (8): Jelani, Musharraf; Ahmeda, Saleem ... Al-Aama, Jumana Yousuf
55. Human semen quality and sperm DNA damage assessed by comet assay in clinical groups
Journal: Turkish Journal of Medical Sciences | Date: Jan 2015 | DOI: 10.3906/SAG-1407-50 | WOS: WOS:000356357800039
Authors (8): Ramzan, Muhammad Haris; Ramzan, Muhammad ... Shah, Mohsin
56. Insight into the Serum Kisspeptin Levels in Infertile Males
Journal: Archives of Iranian Medicine | Date: Jan 2015 | WOS: WOS:000349195600003
Authors (7): Ramzan, Muhammad Hans; Ramzan, Muhammad ... Shah, Mohsin
57. Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family
Journal: Diagnostic Pathology | Date: May 2013 | DOI: 10.1186/1746-1596-8-78 | WOS: WOS:000319266000001
Authors (8): Rahman, Obaid Ur; Khawar, Nadeem ... Jelani, Musharraf
58. Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1)
Journal: Journal of Human Genetics | Date: May 2011 | DOI: 10.1038/JHG.2011.18 | WOS: WOS:000290950100005
Authors (3): Jelani, Musharraf; Chishti, Muhammad Salman; Ahmad, Wasim
59. Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees
Journal: Clinical Genetics | Date: Mar 2011 | DOI: 10.1111/J.1399-0004.2010.01455.X | WOS: WOS:000287036900011
Authors (6): Basit, S.; Wali, A. ... Ahmad, W.
60. Congenital cutis laxa syndrome maps to a novel locus on chromosome 9q13-q21.32
Journal: Journal of Dermatological Science | Date: Feb 2011 | DOI: 10.1016/J.JDERMSCI.2010.11.014 | WOS: WOS:000287550500009
Authors (6): Jelani, Musharraf; Tariq, Muhammad ... Ahmad, Wasim
61. Novel Autosomal Recessive Nonsyndromic Hearing Impairment Locus DFNB90 Maps to 7p22.1-p15.3
Journal: Human Heredity | Date: Jan 2011 | DOI: 10.1159/000320154 | WOS: WOS:000292500000004
Authors (10): Ali, Ghazanfar; Lee, Kwanghyuk ... Leal, Suzanne M.
62. Mutation Analysis of the ASPM Gene in 18 Pakistani Families With Autosomal Recessive Primary Microcephaly
Journal: Journal of Child Neurology | Date: Jun 2010 | DOI: 10.1177/0883073809346850 | WOS: WOS:000278001000008
Authors (13): Kousar, Rizwana; Nawaz, Hira ... Ansar, Muhammad
63. A Homozygous Nonsense Mutation in the Human Desmocollin-3 (DSC3) Gene Underlies Hereditary Hypotrichosis and Recurrent Skin Vesicles
Journal: The American Journal of Human Genetics | Date: Oct 2009 | DOI: 10.1016/J.AJHG.2009.08.015 | WOS: WOS:000270836000008
Authors (7): Ayub, Muhammad; Basit, Sulman ... Ahmad, Wasim
64. A novel deletion mutation in the human hairless (HR) gene in an Iranian family with atrichia and papular lesions
Journal: Clinical and Experimental Dermatology | Date: Oct 2009 | DOI: 10.1111/J.1365-2230.2009.03578.X | WOS: WOS:000269538800144
Authors (9): Balighi, K.; Lajevardi, V. ... Parvaneh, N.
65. Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families
Journal: British Journal of Dermatology | Date: May 2009 | DOI: 10.1111/J.1365-2133.2009.09046.X | WOS: WOS:000265185500011
Authors (15): Tariq, M.; Ayub, M. ... Ahmad, W.
66. A novel splice-site mutation in the CDH3 gene in hypotrichosis with juvenile macular dystrophy
Journal: Clinical and Experimental Dermatology | Date: Jan 2009 | DOI: 10.1111/J.1365-2230.2008.02933.X | WOS: WOS:000261519700016
Authors (3): Jelani, M.; Chishti, M. Salman; Ahmad, W.
67. A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2)
Journal: Clinical Genetics | Date: Aug 2008 | DOI: 10.1111/J.1399-0004.2008.01011.X | WOS: WOS:000257476200011
Authors (5): Jelani, M.; Wasif, N. ... Ahmad, W.
68. Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3)
Journal: Human Genetics | Date: Jun 2008 | DOI: 10.1007/S00439-008-0507-7 | WOS: WOS:000256080600010
Authors (13): Azeem, Zahid; Jelani, Musharraf ... Ahmad, Wasim
69. Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12-q21.2
Journal: British Journal of Dermatology | Date: Dec 2006 | DOI: 10.1111/J.1365-2133.2006.07509.X | WOS: WOS:000242771900010
Authors (11): Naeem, M.; Jelani, M. ... Ahmad, W.
Publications
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