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Cytogenetic and Genome Research|March 17, 2009
Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reportingS Goobie, J Knijnenburg, D Fitzpatrick, et al.
Nature Chemical Biology|June 19, 2009
A crowdsourcing evaluation of the NIH chemical probesTudor I Oprea, Cristian G Bologa, Scott Boyer, et al.
Journal of Neurodevelopmental Disorders|May 17, 2014
CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problemsSébastien Chénier, Grace Yoon, Bob Argiropoulos, et al.
Pediatric Research|September 27, 2022
Pharmacogenetic profiling via genome sequencing in children with medical complexityAmy Pan, Sierra Scodellaro, Tayyaba Khan, et al.
Human Mutation|October 11, 2013
Exome sequencing as a diagnostic tool for pediatric-onset ataxiaSarah L Sawyer, Jeremy Schwartzentruber, Chandree L Beaulieu, et al.
Cancer Causes & Control : CCC|January 1, 1997
Non-dietary factors as risk factors for breast cancer, and as effect modifiers of the association of fat intake and risk of breast cancerD J Hunter, D Spiegelman, H O Adami, et al.
Acta Neuropathologica Communications|July 25, 2015
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathyAlessandra Ruggieri, Francesco Brancati, Simona Zanotti, et al.
American Journal of Medical Genetics. Part A|June 23, 2021
Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challengesSusan Walker, Sylvia Lamoureux, Tayyaba Khan, et al.
American Journal of Human Genetics|January 6, 2018
A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence DataBrett Trost, Susan Walker, Zhuozhi Wang, et al.
Human Genetics|June 12, 2014
The population genomic landscape of human genetic structure, admixture history and local adaptation in Peninsular MalaysiaLian Deng, Boon Peng Hoh, Dongsheng Lu, et al.
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