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Nature Genetics|August 18, 2009
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hairViviana Cordeddu, Elia Di Schiavi, Len A Pennacchio, et al.
Nature Genetics|April 30, 2014
RAF1 mutations in childhood-onset dilated cardiomyopathyPerundurai S Dhandapany, Md Abdur Razzaque, Uthiralingam Muthusami, et al.
JACC. Basic to Translational Science|May 6, 2020
Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart DefectsJonathan J Edwards, Andrew D Rouillard, Nicolas F Fernandez, et al.
Cell Reports|October 13, 2015
Myeloid Dysregulation in a Human Induced Pluripotent Stem Cell Model of PTPN11-Associated Juvenile Myelomonocytic LeukemiaSonia Mulero-Navarro, Ana Sevilla, Angel C Roman, et al.
American Journal of Human Genetics|November 25, 2023
The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic results disclosure in diverse familiesSabrina A Suckiel, Nicole R Kelly, Jacqueline A Odgis, et al.
Circulation. Genomic and Precision Medicine|May 11, 2023
Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart DiseaseMin Young Jang, Parth N Patel, Alexandre C Pereira, et al.
Communications Biology|June 21, 2023
Molecular and cellular evidence for the impact of a hypertrophic cardiomyopathy-associated RAF1 variant on the structure and function of contractile machinery in bioartificial cardiac tissuesSaeideh Nakhaei-Rad, Fereshteh Haghighi, Farhad Bazgir, et al.
Cell|September 29, 2020
Mapping Systemic Inflammation and Antibody Responses in Multisystem Inflammatory Syndrome in Children (MIS-C)Conor N Gruber, Roosheel S Patel, Rebecca Trachtman, et al.
Circulation Research|September 11, 2014
Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence dataJoseph T Glessner, Alexander G Bick, Kaoru Ito, et al.
Nature Communications|July 10, 2025
Genome sequencing is critical for forecasting outcomes following congenital cardiac surgeryW Scott Watkins, Edgar J Hernandez, Thomas A Miller, et al.
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