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Proceedings of the National Academy of Sciences of the United States of America|August 10, 2014
Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformaticsMauro Longoni, Frances A High, Meaghan K Russell, et al.
Plos Genetics|December 12, 2018
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disordersHongjian Qi, Lan Yu, Xueya Zhou, et al.
American Journal of Medical Genetics. Part A|November 21, 2012
Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networksMauro Longoni, Kasper Lage, Meaghan K Russell, et al.
Medrxiv : the Preprint Server for Health Sciences|May 20, 2024
Development of a comprehensive cardiovascular disease genetic risk assessment testLaura M Amendola, Alison J Coffey, Josh Lowry, et al.
Genetics in Medicine Open|January 19, 2026
Development of a comprehensive cardiovascular disease genetic risk assessment testLaura M Amendola, Alison J Coffey, Josh Lowry, et al.
American Journal of Human Genetics|September 26, 2023
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defectsFlorence Petit, Mauro Longoni, Julie Wells, et al.
American Journal of Human Genetics|April 17, 2018
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital AnomaliesHanyin Cheng, Avinash V Dharmadhikari, Sylvia Varland, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 13, 2025
Data-driven consideration of genetic disorders for global genomic newborn screening programsThomas Minten, Sarah Bick, Sophia Adelson, et al.
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