S
Saadullah Khan
Researcher at Kohat University of Science and Technology
Publications - 85
Citations - 1099
Saadullah Khan is an academic researcher from Kohat University of Science and Technology. The author has contributed to research in topics: Exome sequencing & Missense mutation. The author has an hindex of 15, co-authored 76 publications receiving 871 citations. Previous affiliations of Saadullah Khan include Hamad Medical Corporation & Quaid-i-Azam University.
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Journal ArticleDOI
Genetics of human Bardet-Biedl syndrome, an updates.
Sher Alam Khan,Noor Muhammad,Muzammil Ahmad Khan,Muzammil Ahmad Khan,Anwar Kamal,Zia Ur Rehman,Saadullah Khan,Saadullah Khan +7 more
TL;DR: This report presents a concise overview of the current knowledge on clinical data and molecular genetics of Bardet–Biedl syndrome and its molecular genetics progress upto date.
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Mutations in KARS, Encoding Lysyl-tRNA Synthetase, Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB89
Regie Lyn P. Santos-Cortez,Kwanghyuk Lee,Zahid Azeem,Patrick J. Antonellis,Lana M. Pollock,Saadullah Khan,Irfanullah,Paula B. Andrade-Elizondo,Ilene Chiu,Mark Raymond Adams,Sulman Basit,Joshua D. Smith,Deborah A. Nickerson,Brian M. McDermott,Wasim Ahmad,Suzanne M. Leal +15 more
TL;DR: In this paper, a locus associated with autosomal-recessive nonsyndromic hearing impairment (ARNSHI) was mapped to chromosomal region 16q21-q23.2 in three unrelated, consanguineous Pakistani families.
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Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p
Atteeq U. Rehman,Khitab Gul,Robert J. Morell,Kwanghyuk Lee,Zubair M. Ahmed,Saima Riazuddin,Rana A. Ali,Mohsin Shahzad,Ateeq-ul Jaleel,Paula B. Andrade,Shaheen N. Khan,Saadullah Khan,Carmen C. Brewer,Wasim Ahmad,Suzanne M. Leal,Sheikh Riazuddin,Thomas B. Friedman +16 more
TL;DR: One frameshift and six missense mutations in GIPC3 cosegregating with DFNB72 hearing loss in six large families that support statistically significant evidence for genetic linkage are described.
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Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A
Umm-e Kalsoom,Eva Klopocki,Eva Klopocki,Naveed Wasif,Muhammad Tariq,Saadullah Khan,Jochen Hecht,Peter Krawitz,Stefan Mundlos,Stefan Mundlos,Wasim Ahmad +10 more
TL;DR: In this paper, the authors investigated a consanguineous Pakistani family segregating autosomal recessive postaxial polydactyly (PAP) type A to identify the gene responsible for this phenotype.
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A novel homozygous missense mutation in WNT10B in familial split‐hand/foot malformation
TL;DR: A novel homozygous missense mutation in WNT10B in familial split‐hand/foot malformation is found in families with split-hand/ foot malformation.