PMC Links for Protein (Select 157817660) - PMC

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Items: 3

Select item 52230931.

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

Hsiao-Tuan Chao, Mariska Davids, Elizabeth Burke, John G. Pappas, Jill A. Rosenfeld, Alexandra J. McCarty, Taylor Davis, Lynne Wolfe, Camilo Toro, Cynthia Tifft, Fan Xia, Nicholas Stong, Travis K. Johnson, Coral G. Warr, Undiagnosed Diseases Network, Shinya Yamamoto, David R. Adams, Thomas C. Markello, William A. Gahl, Hugo J. Bellen, Michael F. Wangler, May Christine V. Malicdan

Am J Hum Genet. 2017 Jan 5; 100(1): 128–137. Published online 2016 Dec 22. doi: 10.1016/j.ajhg.2016.11.018

PMCID:: PMC5223093

Abstract Article PDF–2.2M

Select item 52230602.

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome

Hannah Sleven, Seth J. Welsh, Jing Yu, Mair E.A. Churchill, Caroline F. Wright, Alex Henderson, Rita Horvath, Julia Rankin, Julie Vogt, Alex Magee, Vivienne McConnell, Andrew Green, Mary D. King, Helen Cox, Linlea Armstrong, Anna Lehman, Tanya N. Nelson, Deciphering Developmental Disorders study, CAUSES study, Jonathan Williams, Penny Clouston, James Hagman, Andrea H. Németh

Am J Hum Genet. 2017 Jan 5; 100(1): 138–150. Published online 2016 Dec 23. doi: 10.1016/j.ajhg.2016.11.020

PMCID:: PMC5223060

Abstract Article PDF–1.3M

Select item 52230273.

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

Frederike Leonie Harms, Katta M. Girisha, Andrew A. Hardigan, Fanny Kortüm, Anju Shukla, Malik Alawi, Ashwin Dalal, Lauren Brady, Mark Tarnopolsky, Lynne M. Bird, Sophia Ceulemans, Martina Bebin, Kevin M. Bowling, Susan M. Hiatt, Edward J. Lose, Michelle Primiano, Wendy K. Chung, Jane Juusola, Zeynep C. Akdemir, Matthew Bainbridge, Wu-Lin Charng, Margaret Drummond-Borg, Mohammad K. Eldomery, Ayman W. El-Hattab, Mohammed A.M. Saleh, Stéphane Bézieau, Benjamin Cogné, Bertrand Isidor, Sébastien Küry, James R. Lupski, Richard M. Myers, Gregory M. Cooper, Kerstin Kutsche

Am J Hum Genet. 2017 Jan 5; 100(1): 117–127. Published online 2016 Dec 22. doi: 10.1016/j.ajhg.2016.11.012