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Molecular Genetics & Genomic Medicine|February 21, 2022
A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delayGiavanna Verdi, Dong Li, Sarah H Elsea, et al.
Molecular Genetics & Genomic Medicine|June 9, 2020
Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro-Caribbean familyWayne Thompson, Patrick Z Carey, Tyhiesia Donald, et al.
Human Mutation|March 2, 2017
Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early developmentYiyun Chen, Justin Bartanus, Desheng Liang, et al.
European Journal of Human Genetics : EJHG|October 16, 2014
Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplicationsPrzemyslaw Szafranski, Sailaja Golla, Weihong Jin, et al.
American Journal of Medical Genetics. Part A|March 16, 2013
Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotypeRachel D Burnside, John G Pappas, Stephanie Sacharow, et al.
Genomics|May 11, 2020
Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settingsQian Liu, Justyna A Karolak, Christopher M Grochowski, et al.
Human Genetics|March 2, 2011
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delayRachel D Burnside, Romela Pasion, Fady M Mikhail, et al.
Plos Genetics|October 3, 2013
Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsyIan M Campbell, Mitchell Rao, Sean D Arredondo, et al.
Plos Genetics|November 24, 2016
Mechanisms for Complex Chromosomal InsertionsShen Gu, Przemyslaw Szafranski, Zeynep Coban Akdemir, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|December 4, 2020
Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the communityAndrew K Sobering, Dong Li, Jennifer S Beighley, et al.
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