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Human Mutation|July 17, 2015
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype CorrelationKitiwan Rojnueangnit, Jing Xie, Alicia Gomes, et al.
American Journal of Human Genetics|January 22, 2013
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminusGea Beunders, Els Voorhoeve, Christelle Golzio, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 15, 2019
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorderGhayda M Mirzaa, Jessica X Chong, Amélie Piton, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 9, 2022
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variantsSayaka Kayumi, Luis A Pérez-Jurado, María Palomares, et al.
American Journal of Human Genetics|January 2, 2018
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848Magdalena Koczkowska, Yunjia Chen, Tom Callens, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 4, 2021
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behaviorHolly K Harris, Tojo Nakayama, Jenny Lai, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2019
PEDIA: prioritization of exome data by image analysisTzung-Chien Hsieh, Martin A Mensah, Jean T Pantel, et al.
Brain : a Journal of Neurology|December 14, 2019
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsisChristopher C Y Mak, Dan Doherty, Angela E Lin, et al.
American Journal of Medical Genetics. Part A|June 28, 2023
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanismsManinder Kaur, Justin Blair, Batsal Devkota, et al.
Arquivos Brasileiros De Cardiologia|January 17, 2024
Position Statement on the Use of Myocardial Strain in Cardiology Routines by the Brazilian Society of Cardiology's Department Of Cardiovascular Imaging - 2023André Luiz Cerqueira Almeida, Marcelo Dantas Tavares de Melo, David Costa de Souza Le Bihan, et al.
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