Last Updated: 09/26/2026
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Found 15 publications
Optical genome mapping with genome sequencing identifies subtelomeric Xq28 deletion and inserted 7p22.3 duplication in a male with multisystem developmental disorder.
Journal: American journal of medical genetics. Part A
Published: November 01, 2023
Direct-to-consumer genetic testing for factor V Leiden and prothrombin 20210G>A: the consumer experience.
Journal: Molecular genetics & genomic medicine
Published: June 28, 2019
Report of the Phenotype of a Patient with Roberts Syndrome and a Rare ESCO2 Variant.
Journal: Journal of pediatric genetics
Published: March 31, 2019
Commentary on the decision of the American Board of Medical Genetics and Genomics to create a 24-month specialty of Laboratory Genetics and Genomics.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 06, 2016
How will genomic information become integrated into the health care system?
Journal: Molecular genetics & genomic medicine
Published: February 06, 2014
Genome-wide association analysis implicates elastic microfibrils in the development of nonsyndromic striae distensae.
Journal: The Journal of investigative dermatology
Published: May 02, 2013
2012 William Allan Award: Adventures in cytogenetics.
Journal: American journal of human genetics
Published: January 17, 2013
Dealing with the unexpected: consumer responses to direct-access BRCA mutation testing.
Journal: PeerJ
Published: November 13, 2012
Genome-wide analysis points to roles for extracellular matrix remodeling, the visual cycle, and neuronal development in myopia.
Journal: PLoS genetics
Published: September 10, 2012
Comparison of family history and SNPs for predicting risk of complex disease.
Journal: PLoS genetics
Published: February 24, 2012
Last Updated: 09/26/2026