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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2021
Genome sequencing as a first-line diagnostic test for hospitalized infantsKevin M Bowling, Michelle L Thompson, Candice R Finnila, et al.
Journal of Medical Genetics|May 15, 2023
ARF1-related disorder: phenotypic and molecular spectrumJean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, et al.
Journal of Personalized Medicine|July 29, 2023
Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care UnitAmy A Lemke, Michelle L Thompson, Emily C Gimpel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 24, 2019
Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite studyM Ragan Hart, Barbara B Biesecker, Carrie L Blout, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 29, 2022
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndromeJet van der Spek, Joery den Hoed, Lot Snijders Blok, et al.
Nature Communications|April 20, 2023
Bird tolerance to humans in open tropical ecosystemsPeter Mikula, Oldřich Tomášek, Dušan Romportl, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 6, 2018
Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite studyM Ragan Hart, Barbara B Biesecker, Carrie L Blout, et al.
Nature Communications|September 10, 2024
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviorsJana Willim, Daniel Woike, Daniel Greene, et al.
Nature Communications|July 11, 2023
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disordersCarolina Gracia-Diaz, Yijing Zhou, Qian Yang, et al.
European Journal of Human Genetics : EJHG|June 3, 2020
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndromeTheodore G Drivas, Dong Li, Divya Nair, et al.
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