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Plos One|June 14, 2014
An examination of the relationship between hotspots and recombination associated with chromosome 21 nondisjunctionTiffany Renee Oliver, Candace D Middlebrooks, Stuart W Tinker, et al.
Molecular Genetics and Metabolism|June 29, 2013
Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testingMelanie A Jones, Devin Rhodenizer, Cristina da Silva, et al.
Human Molecular Genetics|September 10, 2013
Evidence for dysregulation of genome-wide recombination in oocytes with nondisjoined chromosomes 21Candace D Middlebrooks, Nandita Mukhopadhyay, Stuart W Tinker, et al.
Archives of Pathology & Laboratory Medicine|August 23, 2021
Next-Generation Sequencing Somatic and Germline Assay Troubleshooting Guide Derived From Proficiency Testing DataValentina Nardi, Karen D Tsuchiya, Annette S Kim, et al.
Human Genetics|December 14, 2011
Altered patterns of multiple recombinant events are associated with nondisjunction of chromosome 21Tiffany Renee Oliver, Stuart W Tinker, Emily Graves Allen, et al.
Human Molecular Genetics|February 20, 2009
Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferaseAmanda E Carney, Rebecca D Sanders, Kerry R Garza, et al.
American Journal of Human Genetics|October 9, 2012
An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defectsChristine Ackerman, Adam E Locke, Eleanor Feingold, et al.
G3 (Bethesda, Md.)|November 17, 2017
Analysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart DefectsBenjamin L Rambo-Martin, Jennifer G Mulle, David J Cutler, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 6, 2013
The association of low socioeconomic status and the risk of having a child with Down syndrome: a report from the National Down Syndrome ProjectJessica Ezzell Hunter, Emily Graves Allen, Mikyong Shin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 20, 2019
Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variantsTracy Brandt, Laura M Sack, Dolores Arjona, et al.
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