An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome-Reference-Cited by-同舟云学术

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

Published:2022-10 Issue:10 Volume:109 Page:1867-1884
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

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

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

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5. Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomalies;Pua;Am. J. Med. Genet.,2014

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