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Haematologica|July 23, 2013
Comprehensive whole-genome sequencing of an early-stage primary myelofibrosis patient defines low mutational burden and non-recurrent candidate genesJason D Merker, Krishna M Roskin, Dana Ng, et al.
American Journal of Medical Genetics. Part A|August 1, 2012
Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterizationCheryl DeScipio, Laura Conlin, Jill Rosenfeld, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 19, 2021
One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementationStephen E Lincoln, Tina Hambuch, Justin M Zook, et al.
BMC Medicine|August 18, 2021
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort studyEden V Haverfield, Edward D Esplin, Sienna J Aguilar, et al.
European Journal of Human Genetics : EJHG|May 2, 2013
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorderSureni V Mullegama, Jill A Rosenfeld, Carmen Orellana, et al.
European Journal of Human Genetics : EJHG|January 21, 2011
The phenotype of recurrent 10q22q23 deletions and duplicationsBregje W M van Bon, Jorune Balciuniene, Gary Fruhman, et al.
American Journal of Human Genetics|May 15, 2010
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomaliesDavid T Miller, Margaret P Adam, Swaroop Aradhya, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 17, 2011
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilitiesErin B Kaminsky, Vineith Kaul, Justin Paschall, et al.
American Journal of Human Genetics|November 9, 2010
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophreniaDaniel Moreno-De-Luca, , Jennifer G Mulle, et al.
American Journal of Medical Genetics. Part A|July 2, 2013
The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypesCynthia J Curry, Jill A Rosenfeld, Erica Grant, et al.
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