Steven M. Harrison - Publications, H-index & Citations

Steven M. Harrison

Broad Institute of MIT and Harvard

41H指数

133论文数

1.1W被引数

收录论文 50

发表时间

Extracting and calibrating evidence of variant pathogenicity from population biobank data 从人群生物银行数据中提取和校准变异致病性证据

american journal of human genetics

IF0

2025-07-09

PREAI

Vineel Bhat; Tian Yu; Lara Brown; Vikas Pejaver; Matthew Lebo; Steven Harrison; Christopher A. Cassa

ACMG SF v3.3 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)ACMG SF v3.3 临床全外显子和全基因组测序次级发现报告清单：美国医学遗传学与基因组学学院（ACMG）的政策声明

Genetics in Medicine

IF6.2

2025-06-23

PREAI

Kristy Lee; Noura S. Abul-Husn; Laura M. Amendola; Kyle B. Brothers; Wendy K. Chung; Michael H. Gollob; Adam S. Gordon; Steven M. Harrison; Ray E. Hershberger; Marilyn Li; Deborah Ondrasik; C. Sue Richards; Andrew Stergachis; Douglas R. Stewart; Christa Lese Martin; David T. Miller;

Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level 根据证据水平对VUS进行亚分类时，观察到不同的重分类率。

GENETICS IN MEDICINE

IF6.2

2025-06-01

PREAI

Bennett, Gwendolyn; Karbassi, Izabela; Chen, Wenjie; Harrison, Steven M.; Lebo, Matthew S.; Meng, Linyan; Nagan, Narasimhan; Rigobello, Robert; Rehm, Heidi L.

Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations 评估经校准的PP3/BP4计算建议的证据产量

GENETICS IN MEDICINE

IF6.2

2024-11-01

OAAI

Stenton, Sarah L.; Pejaver, Vikas; Bergquist, Timothy; Biesecker, Leslie G.; Byrne, Alicia B.; Nadeau, Emily A. W.; Greenblatt, Marc S.; Harrison, Steven M.; Tavtigian, Sean, V; Radivojac, Predrag; Brenner, Steven E.; O'Donnell-Luria, Anne

Consideration of disease penetrance in the selection of secondary fi ndings gene-disease pairs: A policy statement of the American College of Medical Genetics and Genomics (ACMG)

GENETICS IN MEDICINE

IF6.2

2024-07-01

PREAI

Gordon, Adam S.; Lee, Kristy; Abul-Husn, Noura S.; Amendola, Laura M.; Brothers, Kyle; Chung, Wendy K.; Gollob, Michael H.; Harrison, Steven M.; Hershberger, Ray E.; Richards, C. Sue; Stewart, Douglas R.; Martin, Christa Lese; Miller, David T.

Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay

HUMAN GENETICS AND GENOMICS ADVANCES

IF3.6

2024-04-01

OAAI

Thomson, Kate L.; Jiang, Connie; Richardson, Ebony; Westphal, Dominik S.; Burkard, Tobias; Wolf, Cordula M.; Vatta, Matteo; Harrison, Steven M.; Ingles, Jodie; Bezzina, Connie R.; Kroncke, Brett M.; Vandenberg, Jamie I.; Ng, Chai-Ann

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

GENETICS IN MEDICINE

IF6.2

2023-12-01

OAAI

Rehm, Heidi L.; Alaimo, Joseph T.; Aradhya, Swaroop; Bayrak-Toydemir, Pinar; Best, Hunter; Brandon, Rhonda; Buchan, Jillian G.; Chao, Elizabeth C.; Chen, Elaine; Clifford, Jacob; Cohen, Ana S. A.; Conlin, Laura K.; Das, Soma; Davis, Kyle W.; del Gaudio, Daniela; Del Viso, Florencia; Divincenzo, Christina; Eisenberg, Marcia; Guidugli, Lucia; Hammer, Monia B.; Harrison, Steven M.; Hatchell, Kathryn E.; Dyer, Lindsay Havens; Hoang, Lily U.; Holt, James M.; Jobanputra, Vaidehi; Karbassi, Izabela D.; Kearney, Hutton M.; Kelly, Melissa A.; Kelly, Jacob M.; Kluge, Michelle L.; Komala, Timothy; Kruszka, Paul; Lau, Lynette; Lebo, Matthew S.; Marshall, Christian R.; Mcknight, Dianalee; Mcwalter, Kirsty; Meng, Yan; Nagan, Narasimhan; Neckelmann, Christian S.; Neerman, Nir; Niu, Zhiyv; Paolillo, Vitoria K.; Paolucci, Sarah A.; Perry, Denise; Pesaran, Tina; Radtke, Kelly; Rasmussen, Kristen J.; Retterer, Kyle; Saunders, Carol J.; Spiteri, Elizabeth; Stanley, Christine; Szuto, Anna; Taft, Ryan J.; Thiffault, Isabelle; Thomas, Brittany C.; Thomas-Wilson, Amanda; Thorpe, Erin; Tidwell, Timothy J.; Towne, Meghan C.; Zouk, Hana

Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2023-09-01

OAAI

Singer-Berk, Moriel; Gudmundsson, Sanna; Baxter, Samantha; Seaby, Eleanor G.; England, Eleina; Wood, Jordan C.; Son, Rachel G.; Watts, Nicholas A.; Karczewski, Konrad J.; Harrison, Steven M.; Macarthur, Daniel G.; Rehm, Heidi L.; O'Donnell-Luria, Anne

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)

GENETICS IN MEDICINE

IF6.2

2023-08-01

110

OAAI

Miller, David T.; Lee, Kristy; Abul-Husn, Noura S.; Amendola, Laura M.; Brothers, Kyle; Chung, Wendy K.; Gollob, Michael H.; Gordon, Adam S.; Harrison, Steven M.; Hershberger, Ray E.; Klein, Teri E.; Richards, C. Sue; Stewart, Douglas R.; Martin, C. L.

Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2023-07-01

OAAI

Walker, Logan C.; de la Hoya, Miguel; Wiggins, George A. R.; Lindy, Amanda; Vincent, Lisa M.; Parsons, Michael T.; Canson, Daffodil M.; Bis-Brewer, Dana; Cass, Ashley; Tchourbanov, Alexander; Zimmermann, Heather; Byrne, Alicia B.; Pesaran, Tina; Karam, Rachid; Harrison, Steven M.; Spurdle, Amanda B.

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2022-12-01

184

OAAI

Pejaver, Vikas; Byrne, Alicia B.; Feng, Bing-Jian; Pagel, Kymberleigh A.; Mooney, Sean D.; Karchin, Rachel; O'Donnell-Luria, Anne; Harrison, Steven M.; Tavtigian, Sean, V; Greenblatt, Marc S.; Biesecker, Leslie G.; Radivojac, Predrag; Brenner, Steven E.

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)

GENETICS IN MEDICINE

IF6.2

2022-07-01

146

PREAI

Miller, David T.; Lee, Kristy; Abul-Husn, Noura S.; Amendla, Laura M.; Brothers, Kyle; Chung, Wendy K.; Gollob, Michael H.; Gordon, Adam S.; Harrison, Steven M.; Hershberger, Ray E.; Klein, Teri E.; Richards, Carolyn Sue; Stewart, Douglas R.; Martin, Christa Lese

A calibrated functional patch-clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndrome

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2022-07-01

OAAI

Jiang, Connie; Richardson, Ebony; Farr, Jessica; Hill, Adam P.; Ullah, Rizwan; Kroncke, Brett M.; Harrison, Steven M.; Thomson, Kate L.; Ingles, Jodie; Vandenberg, Jamie I.; Ng, Chai-Ann

Correspondence on 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) by Miller et al Response

GENETICS IN MEDICINE

IF6.2

2022-03-01

OAAI

Gollob, Michael H.; Hershberger, Ray E.; Gordon, Adam S.; Harrison, Steven M.; Lee, Kristy; Martin, Christa Lese; Miller, David T.

A systematic approach for applying disease-specific phenotype in clinical variant interpretation

GENETICS IN MEDICINE

IF6.2

2022-03-01

OAAI

Groopman, Emily; Goldstein, Jennifer; McNulty, Shannon; Ross, Justyne; Chang, Kelsea; Harrison, Steven; Berg, Jonathan

Low frequency of treatable pediatric disease alleles in gnomAD: An opportunity for future genomic screening of newborns

HUMAN GENETICS AND GENOMICS ADVANCES

IF3.6

2022-01-01

OAAI

Gold, Nina B.; Harrison, Steven M.; Rowe, Jared H.; Gold, Jessica; Furutani, Elissa; Biffi, Alessandra; Duncan, Christine N.; Shimamura, Akiko; Lehmann, Leslie E.; Green, Robert C.

Harmonizing variant classification for return of results in the All of Us Research Program 在全美研究计划中协调变体分类以返回结果

HUMAN MUTATION

IF3.7

2021-12-28

OAAI

Harrison, Steven M.; Austin-Tse, Christina A.; Kim, Serra; Lebo, Matthew; Leon, Annette; Murdock, David; Radhakrishnan, Aparna; Shirts, Brian H.; Steeves, Marcie; Venner, Eric; Gibbs, Richard A.; Jarvik, Gail P.; Rehm, Heidi L.

Creation of an Expert Curated Variant List for Clinical Genomic Test Development and Validation A ClinGen and GeT-RM Collaborative Project

JOURNAL OF MOLECULAR DIAGNOSTICS

IF3.4

2021-11-01

OAAI

Wilcox, Emma; Harrison, Steven M.; Lockhart, Edward; Voelkerding, Karl; Lubin, Ira M.; Panels, ClinGen Expert; Rehm, Heidi L.; Kalman, Lisa; Funke, Birgit

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 Genomics (ACMG)

GENETICS IN MEDICINE

IF6.2

2021-08-01

169

OAAI

Miller, David T.; Lee, Kristy; Gordon, Adam S.; Amendola, Laura M.; Adelman, Kathy; Bale, Sherri J.; Chung, Wendy K.; Gollob, Michael H.; Harrison, Steven M.; Herman, Gail E.; Hershberger, Ray E.; Klein, Teri E.; McKelvey, Kent; Richards, C. Sue; Vlangos, Christopher N.; Stewart, Douglas R.; Watson, Michael S.; Martin, Christa Lese

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) (Aug, 2021, 10.1038/s41436-021-01172-3)

GENETICS IN MEDICINE

IF6.2

2021-08-01

PREAI

Miller, David T.; Lee, Kristy; Chung, Wendy K.; Gordon, Adam S.; Herman, Gail E.; Klein, Teri E.; Stewart, Douglas R.; Amendola, Laura M.; Adelman, Kathy; Bale, Sherri J.; Gollob, Michael H.; Harrison, Steven M.; Hershberger, Ray E.; McKelvey, Kent; Richards, C. Sue; Vlangos, Christopher N.; Watson, Michael S.; Martin, Christa Lese

研究方向