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Human Mutation|May 28, 2010
Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?Przemyslaw Szafranski, Christian P Schaaf, Richard E Person, et al.Birth Defects Research|July 18, 2019
Co-occurring defect analysis: A platform for analyzing birth defect co-occurrence in registriesRenata H Benjamin, Xiao Yu, Maria Luisa Navarro Sanchez, et al.Journal of Pediatric Urology|December 7, 2020
Patterns of co-occurring birth defects among infants with hypospadiasKatherine L Ludorf, Renata H Benjamin, Maria Luisa Navarro Sanchez, et al.Elife|August 28, 2015
NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylationVincenzo A Gennarino, Callison E Alcott, Chun-An Chen, et al.Ophthalmic Epidemiology|December 21, 2020
A Comprehensive Assessment of Co-occurring Birth Defects among Infants with Non-Syndromic Anophthalmia or MicrophthalmiaJeremy M Schraw, Renata H Benjamin, Daryl A Scott, et al.American Journal of Medical Genetics. Part A|March 22, 2021
Patterns of congenital anomalies among individuals with trisomy 13 in TexasDiego Diaz, Renata H Benjamin, Maria Luisa Navarro Sanchez, et al.Pediatric Neurology|May 11, 2020
Phenotypic and Imaging Spectrum Associated With WDR45Laura A Adang, Amy Pizzino, Alka Malhotra, et al.American Journal of Medical Genetics. Part A|September 5, 2020
Birth defects that co-occur with non-syndromic gastroschisis and omphaloceleOmobola O Oluwafemi, Renata H Benjamin, Maria Luisa Navarro Sanchez, et al.Human Molecular Genetics|October 11, 2019
Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticityChun-An Chen, Wei Wang, Steen E Pedersen, et al.Journal of Autism and Developmental Disorders|November 18, 2016
The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 DuplicationsM A Gillentine, L N Berry, R P Goin-Kochel, et al.Pageof 23