An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

IF 8.1 1区生物学 Q1 GENETICS & HEREDITY

American journal of human genetics Pub Date : 2025-08-07 DOI:10.1016/j.ajhg.2025.07.001

Sanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum, Maryam Jangjoo, Margaret P Adam, Hans T Bjornsson, Jacqueline Harris, David A Dyment, Gail E Graham, Marjan M Nezarati, Ritu B Aul, Claudia Castiglioni, Jeroen Breckpot, Koen Devriendt, Helen Stewart, Benito Banos-Pinero, Sarju Mehta, Richard Sandford, Carolyn Dunn, Remi Mathevet, Lionel van Maldergem, Juliette Piard, Elise Brischoux-Boucher, Antonio Vitobello, Laurence Faivre, Marie Bournez, Frederic Tran-Mau, Isabelle Maystadt, Alberto Fernández-Jaén, Sara Alvarez, Irene Díez García-Prieto, Fowzan S Alkuraya, Hessa S Alsaif, Zuhair Rahbeeni, Karen El-Akouri, Mariam Al-Mureikhi, Rebecca C Spillmann, Vandana Shashi, Pedro A Sanchez-Lara, John M Graham, Amy Roberts, Odelia Chorin, Gilad D Evrony, Minna Kraatari-Tiri, Tracy Dudding-Byth, Anamaria Richardson, David Hunt, Laura Hamilton, Sarah Dyack, Bryce A Mendelsohn, Nicolás Rodríguez, Rosario Sánchez-Martínez, Jair Tenorio-Castaño, Julián Nevado, Pablo Lapunzina, Pilar Tirado, Maria-Teresa Carminho Amaro Rodrigues, Lina Quteineh, A Micheil Innes, Antonie D Kline, P Y Billie Au, Rosanna Weksberg

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hnrnkp特异性DNA甲基化特征使错义变异有意义，并扩大了Au-Kline综合征的表型谱。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

American journal of human genetics 生物-遗传学

CiteScore

14.70

自引率

4.10%

发文量

185

审稿时长

1 months

期刊介绍： The American Journal of Human Genetics (AJHG) is a monthly journal published by Cell Press, chosen by The American Society of Human Genetics (ASHG) as its premier publication starting from January 2008. AJHG represents Cell Press's first society-owned journal, and both ASHG and Cell Press anticipate significant synergies between AJHG content and that of other Cell Press titles.