Shazia Khan

发表

Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice

C. Lelliott, B. Yalcin, Jacob O Day, 2022, PLoS genetics.

Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families

E. Baple, A. Crosby, W. Ahmad, 2019, BMC Medical Genetics.

Homozygous missense variant in POPDC3 causes recessive limb‐girdle muscular dystrophy type 26

Muhammad Umair, S. Shafiq, Shazia Khan, 2022, The journal of gene medicine.

BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan

E. Baple, A. Crosby, W. Ahmad, 2019, Annals of human genetics.

Biallelic Missense Mutation in the ECEL1 Underlies Distal Arthrogryposis Type 5 (DA5D)

Muhammad Umair, M. Alfadhel, S. Abbas, 2019, Front. Pediatr..

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

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

Overlapping neurological phenotypes in two extended consanguineous families with novel variants in the CNTNAP1 and ADGRG1 genes

G. Zaman, H. Houlden, Xue Zhang, 2023, The journal of gene medicine.

Expanding the Genetic and Mutation Spectrum of ASPM-associated Neurodevelopmental Disorders

Shazia Khan, Tayyaba Afsar, S. Razak, 2023, Journal of Disability Research.