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Neurology|January 26, 2005
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndromeV L Sheen, A Jansen, M H Chen, et al.American Journal of Medical Genetics. Part A|February 8, 2020
De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotypeIlana Chilton, Volkan Okur, Giuseppina Vitiello, et al.Genome Medicine|August 16, 2017
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disordersBret L Bostwick, Scott McLean, Jennifer E Posey, et al.Nature Genetics|April 8, 2014
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndromeGhayda Mirzaa, David A Parry, Andrew E Fry, et al.The Science of the Total Environment|September 16, 2021
Environmental quality assessment in a marine coastal area impacted by mining tailing using a geochemical multi-index and physical approachCybelle Menolli Longhini, Sarah Karoline Rodrigues, Eduardo Schettini Costa, et al.American Journal of Medical Genetics. Part A|October 11, 2018
Proceedings of the fifth international RASopathies symposium: When development and cancer intersectKatherine A Rauen, Lisa Schoyer, Lisa Schill, et al.Nature Communications|July 25, 2020
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathyYu-Ri Lee, Kamal Khan, Kim Armfield-Uhas, et al.American Journal of Medical Genetics. Part A|December 17, 2009
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and backKatherine A Rauen, Lisa Schoyer, Frank McCormick, et al.American Journal of Medical Genetics. Part A|July 2, 2013
The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypesCynthia J Curry, Jill A Rosenfeld, Erica Grant, et al.American Journal of Medical Genetics. Part A|March 16, 2026
The 9th International RASopathies SymposiumPau Castel, Lisa Schoyer, Beth Stronach, et al.Pageof 42