№ files_lp_4_process_1_50087
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This document describes the identification of genomic disorders associated with copy-number variants in patients and provides detailed clinical profiles and genetic data to highlight mechanistic insights into these conditions.
Year: 2026
Region / City: Houston, TX; Warsaw, Poland; Phoenix, AZ; New York, NY; Bogota, Columbia; Austin, TX; Indianapolis, IN; Spokane, WA; Parkville VIC, Australia
Topic: Genomic disorders, Mendelian traits, NAHR-mediated copy-number variants
Document Type: Research Article
Institution / Organization: Baylor College of Medicine, University of Warsaw, Warsaw University of Technology, Phoenix Children’s Hospital, Lenox Hill Hospital, Instituto de Referencia Andino, Signature Genomic Laboratories, Murdoch Children’s Research Institute
Author: Piotr Dittwald, Tomasz Gambin, Przemyslaw Szafranski, Jian Li, Stephen Amato, Michael Y. Divon, Lisa Ximena Rodríguez Rojas, Lindsay E. Elton, Daryl A. Scott, Christian P. Schaaf, Wilfredo Torres-Martinez, Abby K. Stevens, Jill A. Rosenfeld, Satish Agadi, David Francis, Sung-Hae L. Kang, Amy Breman, Seema R. Lalani, Carlos A. Bacino, Weimin Bi, Aleksandar Milosavljevic, Arthur L. Beaudet, Ankita Patel, Chad A. Shaw, James R. Lupski, Anna Gambin, Sau Wai Cheung, Pawel Stankiewicz
Target Audience: Medical and clinical geneticists, researchers in genomic disorders
Period of Action: N/A
Approval Date: N/A
Date of Modifications: N/A
Price: 8 / 10 USD
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