Revealing Chronic Granulomatous Disease in a Patient With Williams-Beuren Syndrome Using Whole Exome Sequencing

por Ripen, Adiratna Mat, Chiow, Mei Yee, Rama Rao, Prakash Rao, Mohamad, Saharuddin Bin
Publicado 2021

Whole exome sequencing identifies compound heterozygous variants of CR2 gene in monozygotic twin patients with common variable immunodeficiency

por Mat Ripen, Adiratna, Ghani, Hamidah, Chear, Chai Teng, Chiow, Mei Yee, Syed Yahya, Sharifah Nurul Husna, Kassim, Asiah, Mohamad, Saharuddin Bin
Publicado 2020

Visual inspection reveals a novel pathogenic mutation in PKD1 missed by the variant caller in whole-exome sequencing

por Koay, Bee Tee, Chiow, Mei Yee, Ismail, Jamiila, Fahmy, Norfarhana Khairul, Yee, Seow Yeing, Mustafa, Norhazlin, Arip, Masita, Ripen, Adiratna Mat, Mohamad, Saharuddin Bin
Publicado 2022

A Novel De Novo NFKBIA Missense Mutation Associated to Ectodermal Dysplasia with Dysgammaglobulinemia

por Chear, Chai Teng, El Farran, Bader Abdul Kader, Sham, Marina, Ramalingam, Kavetha, Noh, Lokman Mohd, Ismail, Intan Hakimah, Chiow, Mei Yee, Baharin, Mohd Farid, Ripen, Adiratna Mat, Mohamad, Saharuddin Bin
Publicado 2022

A single‐center pilot study in Malaysia on the clinical utility of whole‐exome sequencing for inborn errors of immunity

por Ripen, Adiratna Mat, Chear, Chai Teng, Baharin, Mohd Farid, Nallusamy, Revathy, Chan, Kwai Cheng, Kassim, Asiah, Choo, Chong Ming, Wong, Ke Juin, Fong, Siew Moy, Tan, Kah Kee, Nachiappan, Jeyaseelan P., Teo, Kai Ru, Chiow, Mei Yee, Hishamshah, Munirah, Ghani, Hamidah, Muralitharan, Rikeish R., Mohamad, Saharuddin Bin
Publicado 2021