Leveraging next-generation phenotyping for ACMG classification from VUS to likely pathogenic in Mowat-Wilson syndrome
Tzung‐Chien Hsieh, Dylan Todd, Taylor Warner, Kayla Blankenship, Dimah Saade, Hannah Weiland, Meghna Ahuja Bhasin, Hannah Klinkhammer, Jing-Mei Li, Peter Michael Krawitz, Wei‐Liang Chen, Ho‐Ming Luk, Moon Ley Tung, Bharatendu Chandra
The paper reclassifies a variant of uncertain significance as likely pathogenic in Mowat-Wilson syndrome using next-generation phenotyping and multimodal data integration.
medRxiv · Feb 12, 2025 · PreprintGenetic & Genomic Medicine