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American Journal of Human Genetics|October 9, 2021
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotypeMarialetizia Motta, Giulia Fasano, Sina Gredy, et al.
Neuro-Oncology|July 5, 2022
MEK inhibitors for neurofibromatosis type 1 manifestations: Clinical evidence and consensusPeter M K de Blank, Andrea M Gross, Srivandana Akshintala, et al.
Circulation. Genomic and Precision Medicine|August 20, 2020
De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart DiseaseMarko T Boskovski, Jason Homsy, Meena Nathan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 3, 2021
GUÍA: a digital platform to facilitate result disclosure in genetic counselingSabrina A Suckiel, Jaqueline A Odgis, Katie M Gallagher, et al.
Neuroimage|July 5, 2024
Identifying novel data-driven subgroups in congenital heart disease using multi-modal measures of brain structureMarlee M Vandewouw, Ami Norris-Brilliant, Anum Rahman, et al.
Annals of Internal Medicine|March 1, 1993
Alternating and intermittent regimens of zidovudine and dideoxycytidine in patients with AIDS or AIDS-related complexG Skowron, S A Bozzette, L Lim, et al.
JAMA Network Open|January 26, 2023
Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart DiseaseSarah U Morton, Ami Norris-Brilliant, Sean Cunningham, et al.
American Journal of Human Genetics|August 13, 2019
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit AnomaliesRichard J Holt, Rodrigo M Young, Berta Crespo, et al.
Human Mutation|July 16, 2015
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan SyndromeViviana Cordeddu, Jiani C Yin, Cecilia Gunnarsson, et al.
Nature Genetics|July 1, 2020
Genomic analyses implicate noncoding de novo variants in congenital heart diseaseFelix Richter, Sarah U Morton, Seong Won Kim, et al.
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