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Sher Alam Khan

Observed names: Khan, Sher Alam, S Khan, S. Khan, Sher A Khan, Sher A. Khan, Sher Khan
ORCID: 0000-0001-5436-8917
Observed ORCID: 0000-0001-5436-8917
OpenAlex ID: A5009877415
Genetics of human Bardet–Biedl syndrome, an updates
2016 · S.A. Khan, N. Muhammad, et al. · Clinical Genetics · 163
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.
2017 · Asmat Ullah, Muhammad Umair, et al. · PubMed · 32
Deleterious Variants in WNT10A, EDAR, and EDA Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations
2019 · Asia Parveen, Sher Alam Khan, et al. · International Journal of Molecular Sciences · 31
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The Role of Drosophila Cytidine Monophosphate-Sialic Acid Synthetase in the Nervous System
2013 · R. Islam, M. Nakamura, et al. · Journal of Neuroscience · 28
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Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function
2022 · Sheng‐Jia Lin, Barbara Vona, et al. · Human Mutation · 27
Genetics of human isolated hereditary nail disorders
2015 · S. Khan, S. Basit, et al. · British Journal of Dermatology · 22
Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families
2020 · Julia Doll, Barbara Vona, et al. · Genes · 16
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Novel sequence variants in the MKKS gene cause Bardet‐Biedl syndrome with intra‐ and inter‐familial variable phenotypes
2017 · Asmat Ullah, Maryam Khalid, et al. · Congenital Anomalies · 14
A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family
2017 · Anwar Kamal Khan, Noor Muhammad, et al. · BMC Medical Genetics · 14
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A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family
2017 · Anwar Kamal Khan, Noor Muhammad, et al. · Annals of Human Genetics · 13
Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms
2023 · Nazif Muhammad, Syeda Iqra Hussain, et al. · Frontiers in Neurology · 11
Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet–Biedl Syndrome
2023 · Hamed Nawaz, Mujahid, et al. · Genes · 11
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Novel Homozygous Mutations in the Genes TGM1, SULT2B1, SPINK5 and FLG in Four Families Underlying Congenital Ichthyosis
2021 · Fozia Fozia, Rubina Nazli, et al. · Genes · 11
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A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family
2020 · Sher Alam Khan, Muhammad Adnan Khan, et al. · BMC Medical Genetics · 11
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The Expansion of the Spectrum in Stuttering Disorders to a Novel ARMC Gene Family (ARMC3)
2022 · Adil U Rehman, Malaika Hamid, et al. · Genes · 10
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Structural and functional implications of SLC13A3 and SLC9A6 mutations: an in silico approach to understanding intellectual disability
2023 · Syeda Iqra Hussain, Nazif Muhammad, et al. · BMC Neurology · 8
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A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family
2023 · Asia Parveen, Muhammad Tariq, et al. · Human Genome Variation · 7
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Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
2021 · Fozia Fozia, Khadim Shah, et al. · Journal of Clinical Laboratory Analysis · 7
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Homozygous variants of EDAR underlying hypohidrotic ectodermal dysplasia in three consanguineous families
2020 · Sher Alam Khan, Ayesha Rukan, et al. · European Journal of Dermatology · 7
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Biallelic mutations in the LPAR 6 gene causing autosomal recessive wooly hair/hypotrichosis phenotype in five Pakistani families
2019 · Ghulam M. Khan, Noor Hassan, et al. · International Journal of Dermatology · 7
Pollen germination capacity of three mango cultivars (Mangifera indica L., Anacardiaceae) from Pakistan.
2009 · Sher Alam Khan, Anjum Perveen · 7
Detection of Novel Biallelic Causative Variants in COL7A1 Gene by Whole-Exome Sequencing, Resulting in Congenital Recessive Dystrophic Epidermolysis Bullosa in Three Unrelated Families
2022 · Fozia Fozia, Rubina Nazli, et al. · Diagnostics · 6
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Whole Exome Sequencing Confirms Molecular Diagnostics of Three Pakhtun Families With Autosomal Recessive Epidermolysis Bullosa
2021 · Fozia Fozia, Rubina Nazli, et al. · Frontiers in Pediatrics · 6
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Mutation in Phospholipase C, δ1 ( PLCD1 ) gene underlies hereditary leukonychia in a Pashtun family and review of the literature
2018 · AK Khan, SA Khan, et al. · Balkan Journal of Medical Genetics · 5
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Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families
2024 · Syeda Iqra Hussain, Nazif Muhammad, et al. · BMC Medical Genomics · 4
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Works count: 44
Citation count: 495
H-index: 11
I10-index: 15
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