Novel population specific autosomal copy number variation and its functional analysis amongst Negritos from Peninsular Malaysia.

por Siti Shuhada Mokhtar, Christian R Marshall, Maude E Phipps, Bhooma Thiruvahindrapuram, Anath C Lionel, Stephen W Scherer, Hoh Boon Peng
Publicado 2014

A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome

por Yael Dinur Schejter, Adi Ovadia, Roumiana Alexandrova, Bhooma Thiruvahindrapuram, Sergio L. Pereira, David E. Manson, Ajoy Vincent, Daniele Merico, Chaim M. Roifman
Publicado 2017

Homozygous duplication identified by whole genome sequencing causes LRBA deficiency

por Daniele Merico, Yehonatan Pasternak, Mehdi Zarrei, Edward J. Higginbotham, Bhooma Thiruvahindrapuram, Ori Scott, Jessica Willett-Pachul, Eyal Grunebaum, Julia Upton, Adelle Atkinson, Vy H. D. Kim, Elbay Aliyev, Khalid Fakhro, Stephen W. Scherer, Chaim M. Roifman
Publicado 2021