The paper identifies DDX53 genetic variants in individuals with ASD, showing a link between DDX53 and ASD, and highlights implications for genetic testing and mouse modeling.

The American Journal of Human Genetics · Dec 19, 2024Peer-reviewedGenetic & Genomic Medicine

Single nuclei transcriptomics of muscle reveals intra-muscular cell dynamics linked to dystrophin loss and rescue

Deirdre D. Scripture-Adams, Kevin N. Chesmore, Florian Barthélémy, Richard T. Wang, Shirley Nieves‐Rodriguez, Derek W. Wang, Ekaterina I. Mokhonova, Emilie D. Douine, Jijun Wan, Isaiah Little, Laura Rabichow, Stanley F. Nelson, M. Carrie Miceli

The paper develops a method to isolate nuclei from frozen muscle samples and uses single nuclei transcriptomics to study dystrophin loss and rescue in human DMD and mdx mouse muscle.

Communications Biology · Sep 19, 2022Peer-reviewedGenetics

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Felix Marbach, Georgi Stoyanov, Florian Erger, Constantine A. Stratakis, Nikolaos Settas, Edra London, Jill Anne Rosenfeld, Erin E. Torti, Chad R. Haldeman‐Englert, Evgenia Sklirou, Elena Kessler, Sophia Ceulemans, Stanley F. Nelson, Julián A. Martínez-Agosto, Christina G.S. Palmer, , Elizabeth L. Fieg

The paper identifies de novo PRKAR1B variants in six individuals with neurodevelopmental disorder, autism, apraxia, and reduced pain sensitivity.

Genetics in Medicine · Apr 8, 2021Peer-reviewedGenetic & Genomic Medicine

De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation

Dongxue Mao, Chloe M. Reuter, Maura R. Z. Ruzhnikov, Anita E. Beck, Emily Farrow, Lisa Emrick, Jill Anne Rosenfeld, Katherine M. Mackenzie, Laurie A. Robak, Matthew Thomas Wheeler, Lindsay Catherine Burrage, Mahim Jain, Pengfei Liu, Daniel G. Calame, Sébastien Küry, , Christine M. Eng

The paper identifies de novo variants in EIF2AK1 and EIF2AK2 associated with neurodevelopmental disorders and leukoencephalopathy, showing similar pathogenic mechanisms to CACH/VWM.

The American Journal of Human Genetics · Mar 19, 2020Peer-reviewedGenetics

Loss-of-function in IRF2BPL is associated with neurological phenotypes

Paul C. Marcogliese, Vandana Shashi, Rebecca C. Spillmann, Nicholas Stong, Jill Anne Rosenfeld, Mary Kay Koenig, Julián A. Martínez-Agosto, Matthew R. Herzog, Agnes H. Chen, Patricia Dickson, Henry J. Lin, Moin U. Vera, Noriko Salamon, John M. Graham, Damara N. Ortiz, , Noah D. Friedman

This study identifies damaging variants in IRF2BPL associated with neurological phenotypes in humans and shows functional conservation in fruit flies.

The American Journal of Human Genetics · Jul 26, 2018Peer-reviewedGenetics