All Stories

  1. Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant

    Article • PLoS ONE, February 2021, PLOS

    Dr Sulman Basit

  2. Genetic Basis of Polycystic Ovary Syndrome (PCOS): Current Perspectives

    Article • The Application of Clinical Genetics, December 2019, Taylor & Francis

    Dr Sulman Basit, Anwar Ullah

  3. A novel missense variant in the RASGRP2 gene in patients with moderate to severe bleeding disorder

    Article • Platelets, September 2019, Taylor & Francis

    Dr Sulman Basit, Sultan Almutairi

  4. Kleine-Levin Syndrome might be a structural/neurodevelopmental brain disease

    Article • Journal of Sleep Research, June 2018, Wiley

    Dr Sulman Basit, Ahmed BaHammam

  5. XPC gene mutations in families with xeroderma pigmentosum from Pakistan; prevalent founder effect

    Article • Congenital Anomalies, April 2018, Wiley

    Dr Sulman Basit

  6. First direct evidence of involvement of a homozygous loss-of-function variant in the EPS15L1 gene underlying split-hand/split-foot malformation

    Article • Clinical Genetics, January 2018, Wiley

    Dr Sulman Basit, Asmat Ullah

  7. A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family

    Article • Annals of Human Genetics, December 2017, Wiley

    Dr Sulman Basit, Mr Sher Alam Khan

  8. A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia

    Article • Clinical Genetics, September 2017, Wiley

    Dr Sulman Basit

  9. Whole genome SNP genotyping in a family segregating developmental dysplasia of the hip detected runs of homozygosity on chromosomes 15q13.3 and 19p13.2

    Article • Congenital Anomalies, August 2017, Wiley

    Dr Sulman Basit

  10. A novel splice-site mutation in theASPMgene underlies autosomal recessive primary microcephaly

    Article • Annals of Saudi Medicine, December 2016, King Faisal Specialist Hospital and Research Centre

    Dr Sulman Basit

  11. Developmental dysplasia of the hip: usefulness of next generation genomic tools for characterizing the underlying genes - a mini review

    Article • Clinical Genetics, March 2016, Wiley

    Dr Sulman Basit

  12. Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability

    Article • Journal of Clinical Investigation, December 2014, American Society for Clinical Investigation

    Dr Sulman Basit, Michael Trakselis

  13. Genetics of human isolated hereditary hair loss disorders

    Article • Clinical Genetics, November 2014, Wiley

    Dr Sulman Basit

  14. Linkage analysis coupled with exome sequencing identified defects in gene ‘X’ causing premature ovarian insufficiency

    Article • BMC Genomics, April 2014, Springer Science + Business Media

    Dr Sulman Basit

  15. Mutations in KARS, Encoding Lysyl-tRNA Synthetase, Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB89

    Article • The American Journal of Human Genetics, July 2013, Elsevier

    Dr Sulman Basit

  16. Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet–Biedl syndrome

    Article • Gene, February 2013, Elsevier

    Dr Sulman Basit

  17. A novel WDR62 mutation causes primary microcephaly in a Pakistani family

    Article • Molecular Biology Reports, October 2012, Springer Science + Business Media

    Dr Sulman Basit

  18. Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

    Article • Nature Genetics, September 2012, Springer Science + Business Media

    Dr Sulman Basit

  19. A novel chondroectodermal dysplasia mapped to chromosome 2q24.1-q31.1

    Article • European Journal of Medical Genetics, August 2012, Elsevier

    Dr Sulman Basit

  20. A novel splice site mutation in gene C2orf37 underlying Woodhouse–Sakati syndrome (WSS) in a consanguineous family of Pakistani origin

    Article • Gene, December 2011, Elsevier

    Dr Sulman Basit

  21. Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly

    Article • BMC Neurology, October 2011, Springer Science + Business Media

    Dr Sulman Basit

  22. A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31–p36.13

    Article • Journal of Human Genetics, September 2011, Springer Science + Business Media

    Dr Sulman Basit

  23. Genetic mapping of an autosomal recessive postaxial polydactyly type A to chromosome 13q13.3–q21.2 and screening of the candidate genes

    Article • Human Genetics, August 2011, Springer Science + Business Media

    Dr Sulman Basit

  24. Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families

    Article • The Journal of Dermatology, February 2011, Wiley

    Dr Sulman Basit

  25. A Novel Deletion Mutation in Proteoglycan-4 Underlies Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome in a Consanguineous Pakistani Family

    Article • Archives of Medical Research, February 2011, Elsevier

    Dr Sulman Basit

  26. Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42

    Article • The American Journal of Human Genetics, February 2011, Elsevier

    Dr Sulman Basit

  27. Novel Autosomal Recessive Nonsyndromic Hearing Impairment Locus DFNB90 Maps to 7p22.1-p15.3

    Article • Human Heredity, January 2011, Karger Publishers

    Dr Sulman Basit, Assistant Professor Musharraf Jelani

  28. Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families

    Article • Human Genetics, December 2010, Springer Science + Business Media

    Dr Sulman Basit

  29. DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2

    Article • Human Genetics, December 2010, Springer Science + Business Media

    Dr Sulman Basit

  30. Genetic mapping of a novel hypotrichosis locus to chromosome 7p21.3–p22.3 in a Pakistani family and screening of the candidate genes

    Article • Human Genetics, June 2010, Springer Science + Business Media

    Dr Sulman Basit

  31. Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment

    Article • The American Journal of Human Genetics, February 2010, Elsevier

    Dr Sulman Basit

  32. A Homozygous Nonsense Mutation in the Human Desmocollin-3 (DSC3) Gene Underlies Hereditary Hypotrichosis and Recurrent Skin Vesicles

    Article • The American Journal of Human Genetics, October 2009, Elsevier

    Dr Sulman Basit, Assistant Professor Musharraf Jelani, Professor Muhammad Masoom Yasinzai

  33. Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia

    Article • Archives of Dermatological Research, June 2009, Springer Science + Business Media

    Dr Sulman Basit

  34. A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family

    Article • BMC Medical Genetics, November 2008, Springer Science + Business Media

    Dr Sulman Basit