Khadim Shah

Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance

Khurram Liaqat, Isabelle Schrauwen, Syed Irfan Raza et al. · Journal of Human Genetics · 2018 · 46 citations · Full text

Genetic Disorder, Genetics, Clinical Significance +4

Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb

Muhammad Umair, Khadim Shah, Bader Alhaddad et al. · European Journal of Human Genetics · 2017 · 45 citations · Full text

Developmental Biology, Splice Site Variant, Genetic Disorder +11

Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.

Asmat Ullah, Muhammad Umair, Maryam Yousaf et al. · PubMed · 2017 · 31 citations · Full text

Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment

Isabelle Schrauwen, Imen Chakchouk, Anushree Acharya et al. · BMC Medical Genetics · 2018 · 27 citations · Full text

Exome sequencing revealed a novel biallelic deletion in the<i>DCAF17</i>gene underlying Woodhouse Sakati syndrome

Raja Hussain Ali, Khadim Shah, Wouter Steyaert et al. · Clinical Genetics · 2015 · 24 citations

Rare Diseases, Truncated Dcaf17, Developmental Biology +15