Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine - Tập 23 Số 11 - Trang 2029-2037 - 2021
Kandamurugu Manickam1,2, Monica R. McClain3, Laurie Demmer4, Sawona Biswas5, Hutton M. Kearney6, Jennifer Malinowski7, Lauren Massingham8,9, Danny E. Miller10, Timothy W. Yu11,12, Fuki M. Hisama13,14
1Division of Genetic and Genomic Medicine, Department of Pediatrics, Nationwide Children’s Hospital, Columbus, OH, USA
2The Ohio State University College of Medicine, Columbus, OH, USA;
3Scientific and Strategic Affairs, Evidera | PPD, Waltham, MA, USA
4Division of Medical Genetics, Department of Pediatrics, Atrium Health’s Levine Children’s Hospital, Charlotte, NC, USA
5Division of Adult Genetics, Department of Pathology, University of California San Francisco, San Francisco, CA, USA
6Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA
7Write Inscite, LLC, South Salem, NY, USA
8Alpert School of Medicine at Brown University, Providence, RI, USA
9Division of Medical Genetics, Department of Pediatrics, Hasbro Children’s Hospital, Providence, RI, USA
10MEPAN Foundation, Corte Madera, CA, USA
11Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA, USA;
12Harvard Medical School, Boston, MA, USA
13American College of Medical Genetics and Genomics, Bethesda, MD, USA
14Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA, USA

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Tài liệu tham khảo

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Institute of Medicine (US) Committee on Standards for Developing Trustworthy Clinical Practice Guidelines, 2011

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Miller

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Global Research on Developmental Disabilities Collaborators.

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Macnamara

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Deignan

Lindstrand

Lionel

Stranneheim

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Wong

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Genetics in Medicine

Tập 23 Số 11

2029-2037

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