Structural and functional insights into a novel homozygous missense pathogenic variant in CUL7 identified in consanguineous Pakistani family

by Zaka, Ayesha, Yousaf, Maha, Shahzad, Shaheen, Rao, Hadi Zahid, Foo, Jia Nee, Siddiqi, Saima
Published 2023

A novel homozygous frameshift variant in XYLT2 causes spondyloocular syndrome in a consanguineous Pakistani family

by Kausar, Mehran, Chew, Elaine Guo Yan, Ullah, Hazrat, Anees, Mariam, Khor, Chiea Chuen, Foo, Jia Nee, Makitie, Outi, Siddiqi, Saima
Published 2019

Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family

by Ajmal, Muhammad, Mir, Asif, Wahid, Sughra, Khor, Chiea Chuen, Foo, Jia Nee, Siddiqi, Saima, Kauser, Mehran, Malik, Salman Akbar, Nasir, Muhammad
Published 2018

Case report: expanding the phenotype of ARHGEF17 mutations from increased intracranial aneurysm risk to a neurodevelopmental disease

by Ravindran, Ethiraj, Ullah, Noor, Mani, Shyamala, Chew, Elaine Guo Yan, Tandiono, Moses, Foo, Jia Nee, Khor, Chiea Chuen, Kaindl, Angela M., Siddiqi, Saima
Published 2023