STAT1 gain-of-function heterozygous cell models reveal diverse interferon-signature gene transcriptional responses

by Ori Scott, Kyle Lindsay, Steven Erwood, Antonio Mollica, Chaim M. Roifman, Ronald D. Cohn, Evgueni A. Ivakine
Published 2021

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

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

Homozygous duplication identified by whole genome sequencing causes LRBA deficiency

by 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
Published 2021

Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease

by Walter H. A. Kahr, Fred G. Pluthero, Abdul Elkadri, Neil Warner, Marko Drobac, Chang Hua Chen, Richard W. Lo, Ling Li, Ren Li, Qi Li, Cornelia Thoeni, Jie Pan, Gabriella Leung, Irene Lara-Corrales, Ryan Murchie, Ernest Cutz, Ronald M. Laxer, Julia Upton, Chaim M. Roifman, Rae S. M. Yeung, John H Brumell, Aleixo M Muise
Published 2017