Prati
Steven M. Harrison
Steven M. Harrison
Ambry Genetics / Broad Institute
Potvrđena adresa e-pošte na broadinstitute.org - Početna stranica
Naslov
Citirano
Citirano
Godina
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion
AN Abou Tayoun, T Pesaran, MT DiStefano, A Oza, HL Rehm, ...
Human mutation 39 (11), 1517-1524, 2018
6192018
ACMG SF v3. 0 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, WK Chung, AS Gordon, GE Herman, TE Klein, ...
Genetics in medicine 23 (8), 1381-1390, 2021
4592021
Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework
SV Tavtigian, MS Greenblatt, SM Harrison, RL Nussbaum, SA Prabhu, ...
Genetics in medicine 20 (9), 1054-1060, 2018
4172018
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
SE Brnich, AN Abou Tayoun, FJ Couch, GR Cutting, MS Greenblatt, ...
Genome medicine 12, 1-12, 2020
3942020
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
3342019
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
3322018
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar
SM Harrison, JS Dolinsky, AE Knight Johnson, T Pesaran, DR Azzariti, ...
Genetics in Medicine 19 (10), 1096-1104, 2017
2202017
BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2
MS Cline, RG Liao, MT Parsons, B Paten, F Alquaddoomi, A Antoniou, ...
PLoS genetics 14 (12), e1007752, 2018
1982018
The ACMG/AMP reputable source criteria for the interpretation of sequence variants
LG Biesecker, SM Harrison
Genetics in Medicine 20 (12), 1687-1688, 2018
1972018
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and …
DT Miller, K Lee, AS Gordon, LM Amendola, K Adelman, SJ Bale, ...
Genetics in Medicine 23 (8), 1391-1398, 2021
1942021
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria
V Pejaver, AB Byrne, BJ Feng, KA Pagel, SD Mooney, R Karchin, ...
The American Journal of Human Genetics 109 (12), 2163-2177, 2022
1652022
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
1612022
ClinGen variant curation expert panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation
EA Rivera‐Muñoz, LV Milko, SM Harrison, DR Azzariti, CL Kurtz, K Lee, ...
Human mutation 39 (11), 1614-1622, 2018
1522018
Updated recommendation for the benign stand‐alone ACMG/AMP criterion
R Ghosh, SM Harrison, HL Rehm, SE Plon, LG Biesecker, ...
Human mutation 39 (11), 1525-1530, 2018
1352018
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
1302020
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
1252014
Using ClinVar as a resource to support variant interpretation
SM Harrison, ER Riggs, DR Maglott, JM Lee, DR Azzariti, A Niehaus, ...
Current protocols in human genetics 89 (1), 8.16. 1-8.16. 23, 2016
1242016
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
1222019
Is ‘likely pathogenic’really 90% likely? Reclassification data in ClinVar
SM Harrison, HL Rehm
Genome medicine 11 (1), 72, 2019
922019
Genetic Basis of Prune Belly Syndrome: Screening for HNF1β Gene
CF Granberg, SM Harrison, D Dajusta, S Zhang, S Hajarnis, P Igarashi, ...
The Journal of urology 187 (1), 272-278, 2012
922012
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