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BMC Genomics|October 22, 2016
The Third International Genomic Medicine Conference (3rd IGMC, 2015): overall activities and outcome highlightsMuhammad Abu-Elmagd, Mourad Assidi, Ashraf Dallol, et al.
NPJ Genomic Medicine|November 19, 2021
Homozygous duplication identified by whole genome sequencing causes LRBA deficiencyDaniele Merico, Yehonatan Pasternak, Mehdi Zarrei, et al.
Critical Reviews in Toxicology|September 18, 2013
A survey of frameworks for best practices in weight-of-evidence analysesLorenz R Rhomberg, Julie E Goodman, Lisa A Bailey, et al.
The New England Journal of Medicine|October 21, 2005
Severe expressive-language delay related to duplication of the Williams-Beuren locusMartin J Somerville, Carolyn B Mervis, Edwin J Young, et al.
Nature Genetics|May 27, 2014
Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorderMohammed Uddin, Kristiina Tammimies, Giovanna Pellecchia, et al.
Genomics|May 18, 1999
A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36H C Heus, A Hing, M J van Baren, et al.
Nature Communications|August 4, 2015
Clinically relevant copy number variations detected in cerebral palsyMaryam Oskoui, Matthew J Gazzellone, Bhooma Thiruvahindrapuram, et al.
Molecular Genetics and Genomics : MGG|October 18, 2006
Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndromeErwin Petek, Thomas Schwarzbraun, Abdul Noor, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 28, 2025
Rare variants in BMAL1 are associated with a neurodevelopmental syndromeVishnu Anand Cuddapah, Dechun Chen, Bumsik Cho, et al.
BMC Medical Genomics|January 12, 2023
Disruption of DDX53 coding sequence has limited impact on iPSC-derived human NGN2 neuronsMuhammad Faheem, Eric Deneault, Roumiana Alexandrova, et al.
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