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Evaluating the clinical validity of hypertrophic cardiomyopathy genes J Ingles, J Goldstein, C Thaxton, C Caleshu, EW Corty, SB Crowley, ... Circulation: Genomic and Precision Medicine 12 (2), e002460, 2019 | 401 | 2019 |
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy … MA Kelly, C Caleshu, A Morales, J Buchan, Z Wolf, SM Harrison, S Cook, ... Genetics in Medicine 20 (3), 351-359, 2018 | 367 | 2018 |
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Genomic data in the all of us research program Biobank, Mayo Blegen Ashley L. 18 Wirkus Samantha J. 18 Wagner Victoria A ... Nature 627 (8003), 340-346, 2024 | 237 | 2024 |
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ACMG SF v3. 1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG) DT Miller, K Lee, NS Abul-Husn, LM Amendola, K Brothers, WK Chung, ... Genetics in Medicine 24 (7), 1407-1414, 2022 | 216 | 2022 |
Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines SV Tavtigian, SM Harrison, KM Boucher, LG Biesecker Human mutation 41 (10), 1734-1737, 2020 | 184 | 2020 |
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ACMG SF v3. 2 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG) DT Miller, K Lee, NS Abul-Husn, LM Amendola, K Brothers, WK Chung, ... Genetics in Medicine 25 (8), 100866, 2023 | 175 | 2023 |
Overview of specifications to the ACMG/AMP variant interpretation guidelines SM Harrison, LG Biesecker, HL Rehm Current protocols in human genetics 103 (1), e93, 2019 | 163 | 2019 |
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An approach to the identification of anomalies and etiologies in neonates with identified or suspected VACTERL (vertebral defects, anal atresia, tracheo-esophageal fistula with … BD Solomon, LA Baker, KA Bear, BK Cunningham, PF Giampietro, ... The Journal of pediatrics 164 (3), 451-457. e1, 2014 | 135 | 2014 |