Saadullah Khan

发表

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.

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.

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

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

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.

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.

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.

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.

Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly

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

Multisystem Radiologic Manifestations of Erdheim-Chester Disease

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

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

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

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.

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.

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.

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.

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

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

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.

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.

Disease causing homozygous variants in the human hairless gene

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

Genetics of human isolated acromesomelic dysplasia.

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

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.

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

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

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.

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.

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

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

Nonsense variant in a consanguineous family expands the phenotype of KPTN gene‐related syndrome to include hearing impairment

S. Leal, W. Ahmad, I. Schrauwen, 2023, Clinical 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.

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.

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

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

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.

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

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

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.

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.

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.

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.

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.

Genetics of human isolated hereditary hair loss disorders

S. Basit, W. Ahmad, S. Khan, 2015, Clinical genetics.

The molecular genetics of UV-Sensitive syndrome: A rare dermal anomaly.

Rizwan, Ansar A Abbasi, M. Z. Ali, 2021, JPMA. The Journal of the Pakistan Medical Association.

Molecular insight into CREBBP and TANGO2 variants causing intellectual disability

Muhammad Yasin, N. Muhammad, S. Saleha, 2023, The journal of gene medicine.

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

W. Ahmad, S. I. Raza, M. I. Ullah, 2017 .

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.

Homozygosity mapping coupled with whole-exome sequencing and protein modelling identified a novel missense mutation in GUCY2D in a consanguineous Pakistani family with Leber congenital amaurosis

J. Vincent, Muzammil Ahmad Khan, S. Abbasi, 2021, Journal of genetics.

Homozygosity mapping coupled with whole-exome sequencing and protein modelling identified a novel missense mutation in GUCY2D in a consanguineous Pakistani family with Leber congenital amaurosis

J. Vincent, Muzammil Ahmad Khan, S. Abbasi, 2021, Journal of Genetics.

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.

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

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

Structural and functional implications of SLC13A3 and SLC9A6 mutations: an in silico approach to understanding intellectual disability

N. Muhammad, N. Wasif, S. A. Khan, 2023, BMC Neurology.