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Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 6, 2015
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular PathologySue Richards, Nazneen Aziz, Sherri Bale, et al.
The American Journal of Occupational Therapy : Official Publication of the American Occupational Therapy Association|January 23, 2010
Guidelines for supervision, roles, and responsibilities during the delivery of occupational therapy servicesSara Jane Brayman, Gloria Frolek Clark, Janet V DeLany, et al.
Archives of Pathology & Laboratory Medicine|January 3, 2022
Tiered Somatic Variant Classification Adoption Has Increased Worldwide With Some Practice Differences Based on Location and Institutional SettingFrido K Bruehl, Annette S Kim, Marilyn M Li, et al.
The American Journal of Occupational Therapy : Official Publication of the American Occupational Therapy Association|December 1, 2004
Guidelines for supervision, roles, and responsibilities during the delivery of occupational therapy services (2004)Sara Jane Brayman, Gloria Frolek Clark, Janet V DeLany, et al.
American Journal of Medical Genetics. Part A|November 22, 2013
A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overloadKathryn J Swoboda, Rebecca L Margraf, John C Carey, et al.
American Journal of Human Genetics|April 8, 2014
Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear familiesMarc V Singleton, Stephen L Guthery, Karl V Voelkerding, et al.
Archives of Pathology & Laboratory Medicine|November 22, 2024
Genomic Reporting Practices Across 5 Molecular Disciplines: A Study From the College of American PathologistsLarissa V Furtado, Annette S Kim, Ann M Moyer, et al.
Archives of Pathology & Laboratory Medicine|October 18, 2023
Implementation, Evolution, and Laboratory Performance of Methods-Based Proficiency Testing for Next-Generation Sequencing Detection of Germline Sequence VariantsKaren D Tsuchiya, Birgit Funke, Madhuri Hegde, et al.
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