S. Khan

发表

The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations

R. Mohammad, Z. Nawaz, Muzammil Ahmad Khan, 2016, Annals of human genetics.

Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature

E. Baple, A. Crosby, G. Harlalka, 2018, BMC Medical Genetics.

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

S. Basit, W. Ahmad, S. Khan, 2011, Gene.

Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A

S. Mundlos, P. Krawitz, E. Klopocki, 2012, Journal of Medical Genetics.

Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p

S. Leal, S. Riazuddin, Z. Ahmed, 2011, Human Genetics.

Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families

Hyung-Goo Kim, T. Haaf, J. D. Labonne, 2020, Genes.

Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM gene

R. Mohammad, Z. Nawaz, Muzammil Ahmad Khan, 2017, Journal of Genetics.

Genetics of human isolated acromesomelic dysplasia.

S. Basit, W. Ahmad, Muzammil Ahmad Khan, 2016, European journal of medical genetics.

Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family

S. Khan, Amal A Alotaibi, K. Shah, 2021, Journal of clinical laboratory analysis.

Disease causing homozygous variants in the human hairless gene

W. Ahmad, S. Khan, Irfanullah, 2016, International journal of dermatology.

Deleterious Variants in WNT10A, EDAR, and EDA Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations

M. U. Mirza, M. Froeyen, S. Khan, 2019, International journal of molecular sciences.

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

S. Basit, W. Ahmad, M. Touseef, 2013, Gene.

Molecular Characterization of β-Thalassemia Mutations Via the Amplification Refractory Mutation System-Polymerase Chain Reaction Method at the North Waziristan Agency, Pakistan

S. Rehman, S. Khan, M. Shakeel, 2018, Hemoglobin.

Homozygous Sequence Variants in the NPR2 Gene Underlying Acromesomelic Dysplasia Maroteaux Type (AMDM) in Consanguineous Families

W. Ahmad, Muhammad Umair, S. Khan, 2015, Annals of human genetics.

Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux

W. Ahmad, S. Khan, N. Muhammad, 2012, BMC Medical Genetics.

Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly

D. Nickerson, S. Leal, D. Horn, 2019, Human Genetics.

Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function

J. Rosenfeld, Hyung-Goo Kim, T. Haaf, 2022, Human mutation.

Pakistan Genetic Mutation Database (PGMD); A centralized Pakistani mutome data source.

S. Basit, Muzammil Ahmad Khan, S. Khan, 2017, European journal of medical genetics.

Multi drug resistant Pseudomonas aeruginosa: Pathogen burden and associated antibiogram in a tertiary care hospital of Pakistan.

Z. Rehman, S. Khan, Waheed Ullah, 2016, Microbial pathogenesis.

Whole exome sequencing identifies a novel dominant missense mutation underlying leukonychia in a Pakistani family

M. Naeem, Yuanwei Zhang, S. Khan, 2018, Journal of Human Genetics.

Mutations in the gene phospholipase C, delta-1 (PLCD1) underlying hereditary leukonychia.

W. Ahmad, S. Khan, M. S. Arif, 2012, European journal of dermatology : EJD.

Molecular identification of TEM-116 beta-lactamase gene in isolates of pathogenic Pseudomonas aeruginosa : A first report from Pakistan

S. Khan, Waheed Ullah, H. Rahman, 2017 .

The Genetics of Split-Hand/Foot Malformation (SHFM) - A Pakistani Perspective

S. Khan, Waheed Ullah, S. A. Khan, 2015 .

The First Report of a Missense Variant in RFX2 Causing Non-Syndromic Tooth Agenesis in a Consanguineous Pakistani Family

S. Khan, N. Muhammad, Ziafat Rehman, 2022, Frontiers in Genetics.

A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family

S. Khan, N. Muhammad, N. Wasif, 2020, BMC Medical Genetics.

Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations

J. Vincent, F. Ullah, Muzammil Ahmad Khan, 2019, Annals of human genetics.

Ophthalmo-genetic analysis of Pakistani patients with nonsyndromic oculocutaneous albinism through whole exome sequencing.

Muzammil Ahmad Khan, S. Khan, Muhammad Badar, 2017, JPMA. The Journal of the Pakistan Medical Association.

Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly

D. Nickerson, S. Leal, D. Horn, 2019, Human Genetics.

Novel Homozygous Mutations in the Genes TGM1, SULT2B1, SPINK5 and FLG in Four Families Underlying Congenital Ichthyosis

S. Basit, M. Sohaib, R. Ullah, 2021, Genes.

Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani origin

S. Khan, N. Muhammad, Ziafat Rehman, 2023, International journal of dermatology.

Association of sequence variants in frizzled-6 with autosomal recessive nail dysplasia (NDNC-10) in Pashtun families.

Muzammil Ahmad Khan, S. Khan, Waheed Ullah, 2020, JPMA. The Journal of the Pakistan Medical Association.

Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89.

Lana M. Pollock, M. Adams, D. Nickerson, 2013, American journal of human genetics.

Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability

D. Nickerson, S. Leal, M. Bamshad, 2018, Human Genetics.

Homozygous variants of EDAR underlying hypohidrotic ectodermal dysplasia in three consanguineous families

N. Bibi, W. Ahmad, S. Khan, 2020, European Journal of Dermatology.

Molecular and in silico analyses validates pathogenicity of homozygous mutations in the NPR2 gene underlying variable phenotypes of Acromesomelic dysplasia, type Maroteaux.

Keun Woo Lee, W. Ahmad, S. Khan, 2018, The international journal of biochemistry & cell biology.

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

S. Basit, S. Khan, Waheed Ullah, 2018, Annals of human genetics.

Genetics of human Bardet–Biedl syndrome, an updates

S.A. Khan, Z. Rehman, Muzammil Ahmad Khan, 2016, Clinical genetics.

Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability

D. Nickerson, S. Leal, M. Bamshad, 2018, Human Genetics.

Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-up

K. R. Jun, Hyung-Goo Kim, R. Ullmann, 2014, Molecular Cytogenetics.

Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-up

K. R. Jun, Hyung-Goo Kim, R. Ullmann, 2014, Molecular Cytogenetics.

A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family

Muzammil Ahmad Khan, S. Khan, N. Muhammad, 2017, BMC Medical Genetics.

Multisystem Radiologic Manifestations of Erdheim-Chester Disease

K. Yaddanapudi, S. Khan, Uzair Sarmast, 2016, Case reports in radiology.

Biallelic mutations in the LPAR6 gene causing autosomal recessive wooly hair/hypotrichosis phenotype in five Pakistani families

S. Basit, F. Rehman, S. Khan, 2019, International journal of dermatology.

Identification and in silico analysis of GALNS mutations causing Morquio A syndrome in eight consanguineous families

W. Ahmad, S. Khan, S. I. Raza, 2017 .

CTX-M-15 and OXA-10 beta lactamases in multi drug resistant Pseudomonas aeruginosa: First report from Pakistan.

Z. Rehman, S. Khan, Waheed Ullah, 2017, Microbial pathogenesis.

A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family

C. Enzinger, Muzammil Ahmad Khan, S. Khan, 2021, Metabolic Brain Disease.

A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family

C. Enzinger, Muzammil Ahmad Khan, S. Khan, 2021, Metabolic brain disease.

Mutation screening of multiple Pakistani MCPH families revealed novel and recurrent protein‐truncating mutations of ASPM

S. Rehman, Muzammil Ahmad Khan, S. Khan, 2021, Biotechnology and applied biochemistry.

Genetic study of Khyber-Pukhtunkhwa resident Pakistani families presenting primary microcephaly with intellectual disability.

S. Hussain, Muzammil Ahmad Khan, S. Khan, 2019, JPMA. The Journal of the Pakistan Medical Association.

The Expansion of the Spectrum in Stuttering Disorders to a Novel ARMC Gene Family (ARMC3)

S. Basit, Muzammil Ahmad Khan, S. Khan, 2022, Genes.

Novel homozygous mutations in the WNT10B gene underlying autosomal recessive split hand/foot malformation in three consanguineous families.

Sajid Rashid, W. Ahmad, S. Khan, 2014, Gene.

Novel sequence variants in the MKKS gene cause Bardet‐Biedl syndrome with intra‐ and inter‐familial variable phenotypes

W. Ahmad, Muhammad Umair, S. Khan, 2018, Congenital anomalies.

A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families

S. Leal, W. Ahmad, S. Khan, 2011, Genetics research international.

Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet–Biedl Syndrome

S. Khan, Q. Alam, Shazia Khan, 2023, Genes.

Whole Exome Sequencing Confirms Molecular Diagnostics of Three Pakhtun Families With Autosomal Recessive Epidermolysis Bullosa

N. Bibi, S. Khan, M. Jelani, 2021, Frontiers in Pediatrics.

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

Muzammil Ahmad Khan, S. Khan, S. Abbasi, 2023, Frontiers in Neurology.

A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations

M. Froeyen, Michiel Vanmeert, S. Khan, 2019, Molecular genetics & genomic medicine.

Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1‐related ciliopathies

J. D. den Dunnen, C. Ruivenkamp, W. Ahmad, 2016, American journal of medical genetics. Part A.