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

Get full text

Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions by Karthik Muthusamy, Ajith Sivadasan, Luke Dixon, Sniya Sudhakar, Maya Thomas, Sumita Danda, Zbigniew K. Wszolek, Klaas Wierenga, Radhika Dhamija, Ralitza Gavrilova

Get full text

P185: Genome and exome sequencing to define cardiac phenotypes in diagnostic odyssey cases by Marta Figueiral, Alessia Paldino, Matheus Wilke, Brendan Lanpher, Ralitza Gavrilova, Karthik Muthusamy, Pavel Pichurin, Radhika Dhamija, Klaas Wierenga, Myra Wick, Lisa Schimmenti, Konstantinos Lazaridis, Eric Klee, Naveen Pereira

Get full text

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

Get full text