Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations
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Published:2024-08
Issue:8
Volume:111
Page:1643-1655
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ISSN:0002-9297
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Container-title:The American Journal of Human Genetics
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language:en
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Short-container-title:The American Journal of Human Genetics
Author:
Haghshenas Sadegheh, Karimi Karim, Stevenson Roger E., Levy Michael A., Relator Raissa, Kerkhof Jennifer, Rzasa Jessica, McConkey Haley, Lauzon-Young Carolyn, Balci Tugce B., White-Brown Alexandre M., Carter Melissa T., Richer Julie, Armour Christine M., Sawyer Sarah L., Bhola Priya T., Tedder Matthew L., Skinner Cindy D., van Rooij Iris A.L.M., van de Putte Romy, de Blaauw Ivo, Koeck Rebekka M., Hoischen Alexander, Brunner Han, Esteki Masoud Zamani, Pelet Anna, Lyonnet Stanislas, Amiel Jeanne, Boycott Kym M., Sadikovic BekimORCID
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1. Recurrent constellations of embryonic malformations re-conceptualized as an overlapping group of disorders with shared pathogenesis;Adam;Am. J. Med. Genet.,2020 2. Common pathogenesis for sirenomelia, OEIS complex, limb-body wall defect, and other malformations of caudal structures;Stevenson;Am. J. Med. Genet.,2021 3. NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy;Mark;Am. J. Med. Genet.,2022 4. Craniofacial Microsomia, Associated Congenital Anomalies, and Risk Factors in 63 Cases from the Alberta Congenital Anomalies Surveillance System;Thomas;J. Pediatr.,2023 5. The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene;Stevens;Clin. Genet.,2022
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