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American Journal of Medical Genetics. Part A|September 11, 2024
Aortic Root Dilation and Genotype Associations in Phelan-McDermid SyndromeJake Gluckman, Tess Levy, Kate Friedman, et al.
Nature|June 11, 2010
Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndromeXonia Carvajal-Vergara, Ana Sevilla, Sunita L D'Souza, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 28, 2023
Physician services and costs after disclosure of diagnostic sequencing results in the NYCKidSeq programAsem Berkalieva, Nicole R Kelly, Ashley Fisher, et al.
Annals of Clinical and Translational Neurology|November 27, 2023
Association of genetic and sulcal traits with executive function in congenital heart diseaseLara Maleyeff, Jane W Newburger, David Wypij, et al.
Pediatric Cardiology|June 28, 2018
Predictors of Rapid Aortic Root Dilation and Referral for Aortic Surgery in Marfan SyndromeArvind Hoskoppal, Shaji Menon, Felicia Trachtenberg, et al.
Journal of the American College of Cardiology|December 1, 2022
Pediatric and Congenital Cardiovascular Disease Research Challenges and Opportunities: JACC Review Topic of the WeekAlexander R Opotowsky, Kiona Y Allen, Emily M Bucholz, et al.
Plos Genetics|November 20, 2020
Rare genetic variation at transcription factor binding sites modulates local DNA methylation profilesAlejandro Martin-Trujillo, Nihir Patel, Felix Richter, et al.
Nature Genetics|December 5, 2006
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndromeMarco Tartaglia, Len A Pennacchio, Chen Zhao, et al.
The Journal of Experimental Medicine|March 26, 2008
Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemiaElisabetta Flex, Valentina Petrangeli, Lorenzo Stella, et al.
Medrxiv : the Preprint Server for Health Sciences|July 18, 2020
Mapping Systemic Inflammation and Antibody Responses in Multisystem Inflammatory Syndrome in Children (MIS-C)Conor Gruber, Roosheel Patel, Rebecca Trachman, et al.
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