Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history.

by Vincent J Carson, Erik G Puffenberger, Lauren E Bowser, Karlla W Brigatti, Millie Young, Dominika Korulczyk, Ashlin S Rodrigues, KaLynn K Loeven, Kevin A Strauss
Published 2018-01-01

A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes

by Tova Hershkovitz, Alina Kurolap, Galit Tal, Tamar Paperna, Adi Mory, Jeffrey Staples, Karlla W. Brigatti, Claudia Gonzaga-Jauregui, Elena Dumin, Ann Saada, Hanna Mandel, Hagit Baris Feldman
Published 2021-03-01

Cortical overgrowth in a preclinical forebrain organoid model of CNTNAP2-associated autism spectrum disorder

by Job O. de Jong, Ceyda Llapashtica, Matthieu Genestine, Kevin Strauss, Frank Provenzano, Yan Sun, Huixiang Zhu, Giuseppe P. Cortese, Francesco Brundu, Karlla W. Brigatti, Barbara Corneo, Bianca Migliori, Raju Tomer, Steven A. Kushner, Christoph Kellendonk, Jonathan A. Javitch, Bin Xu, Sander Markx
Published 2021-09-01