Genomic Observations of a Rare/Pathogenic <i>SMAD3</i> Variant in Loeys–Dietz Syndrome 3 Confirmed by Protein Informatics and Structural Investigations

by John E. Richter, Ayesha Samreen, Charitha Vadlamudi, Haytham Helmi, Ahmed N. Mohammad, Klaas Wierenga, Stephanie Hines, Paldeep S. Atwal, Thomas R. Caulfield
Published 2019-05-01

Haploinsufficiency as a disease mechanism in GNB1‐associated neurodevelopmental disorder

by Laura Schultz‐Rogers, Ikuo Masuho, Filippo Pinto e Vairo, Christopher T. Schmitz, Tanya L. Schwab, Karl J. Clark, Lauren Gunderson, Pavel N. Pichurin, Klaas Wierenga, Kirill A. Martemyanov, Eric W. Klee
Published 2020-11-01