Genetics in Medicine Open

An evaluation of genetic predisposition to congenital anomalies and pediatric cancer supports KAT6B as a novel neuroblastoma susceptibility gene

Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2024.101901 Hyunjung Gu , Yao Yu , Saumya Dushyant Sisoudiya , Pamela Mishra , He Li , Jeremy M. Schraw , Michael E. Scheurer , Donna M. Muzny , Danielle Mitchell , Olga Taylor , Shalini N. Jhangiani , Shannon Dugan-Perez , Yifan Wu , Harsha Doddapaneni , Sravya Venkata Bhamidipati , Marie-Claude Gingras , Jennifer E. Posey , Richard A. Gibbs , Chad D. Huff , Sharon E. Plon , Aniko Sabo

Pilot implementation study of a default genetic referral process for patients with early-onset colorectal cancer

Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2024.101902 Kelsey S. Lau-Min , Shavon Rochester , Megan Grabill , Jessica M. Long , Danielle B. McKenna , Jacqueline Powers , Danny Bracy , Leland Boisseau , Peter Gabriel , Randall Oyer , Susan M. Domchek , Katharine A. Rendle , Katherine L. Nathanson , Bryson W. Katona

1: Multicenter evaluation of a new AI-based karyotyping software on bone marrow specimens

Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2024.101918 Rachel D. Burnside , Julie Best , Lisa Spudich , Amy Leftwich , Marbella Ospino , Ryan K. Olson , Jacob Diaz , Annette Mulka , Yanelys Guttierez , Heather Adams , Kenneth Greer , Julia Holmes , Christy Prongay , Lorraine Merant , Yael Glickman , Mohammad Kasom , Cristina Steele , Agshin F. Taghiyev , Lynne S. Rosenblum