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Communications Medicine|February 6, 2026
Machine learning to infer neurocognitive testing scores among adolescents and young adults with congenital heart diseaseMohammad Arafat Hussain, Sheng He, Heather R Adams, et al.American Journal of Medical Genetics. Part A|April 23, 2015
The third international meeting on genetic disorders in the RAS/MAPK pathway: towards a therapeutic approachBruce Korf, Reza Ahmadian, Judith Allanson, et al.Human Mutation|January 12, 2017
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan SyndromeLuca Pannone, Gianfranco Bocchinfuso, Elisabetta Flex, et al.American Journal of Human Genetics|July 13, 2010
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotypeSimone Martinelli, Alessandro De Luca, Emilia Stellacci, et al.Genome Medicine|May 1, 2020
EM-mosaic detects mosaic point mutations that contribute to congenital heart diseaseAlexander Hsieh, Sarah U Morton, Jon A L Willcox, et al.JAMA Cardiology|October 21, 2020
Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart DiseaseSarah U Morton, Akiko Shimamura, Peter E Newburger, et al.Plos Genetics|April 9, 2016
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart DefectsJames R Priest, Kazutoyo Osoegawa, Nebil Mohammed, et al.Nature Genetics|July 3, 2007
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathyBhaswati Pandit, Anna Sarkozy, Len A Pennacchio, et al.Cell Stem Cell|August 7, 2012
Regulation of embryonic and induced pluripotency by aurora kinase-p53 signalingDung-Fang Lee, Jie Su, Yen-Sin Ang, et al.The Journal of Pediatrics|June 27, 2020
Variants in ADRB1 and CYP2C9: Association with Response to Atenolol and Losartan in Marfan SyndromeSara L Van Driest, Lynn A Sleeper, Bruce D Gelb, et al.Pageof 39