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Molecular Psychiatry|December 12, 2018
Common-variant associations with fragile X syndromeJames J Crowley, Jin Szatkiewicz, Anna K Kähler, et al.
Brain : a Journal of Neurology|May 19, 2016
CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroidsFlorian S Eichler, Jiankang Li, Yiran Guo, et al.
Molecular Psychiatry|September 25, 2019
Correction: Common-variant associations with fragile X syndromeJames J Crowley, Jin Szatkiewicz, Anna K Kähler, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 14, 2015
A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencingJonathan S Berg, Ann Katherine M Foreman, Julianne M O'Daniel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 19, 2015
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testingLisa R Susswein, Megan L Marshall, Rachel Nusbaum, et al.
American Journal of Human Genetics|August 28, 2020
Genomic Sequencing for Newborn Screening: Results of the NC NEXUS ProjectTamara S Roman, Stephanie B Crowley, Myra I Roche, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 2, 2007
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohortGirish V Putcha, Bassem A Bejjani, Stacey Bleoo, et al.
Genetics in Medicine Open|August 23, 2024
The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program DirectorsJoshua L Deignan, Vimla Aggarwal, Allen E Bale, et al.
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