Harrison Steven M - Broad Institute, MIT

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论文共 86 篇作者统计合作学者相似作者

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Distinct Rates of VUS Reclassification Are Observed when Subclassifying VUS by Evidence Level

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

Genetics in medicine official journal of the American College of Medical Genetics（2025）

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Calibration of Additional Computational Tools Expands ClinGen Recommendation Options for Variant Classification with PP3/BP4 Criteria

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

Genetics in medicine official journal of the American College of Medical Geneticsno. 6 (2025): 101402-101402

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P712: A Novel Framework for Use of the PP1/BS4 Co-Segregation and PP4 Phenotype Specificity Criteria for Sequence Variant Pathogenicity Classification

Leslie Biesecker,Alicia Byrne,Steven Harrison,Tina Pesaran,Alejandro Schäffer,Brian Shirts,Sean Tavtigian,Heidi Rehm

Genetics in Medicine Open (2024): 101616

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ClinGen Guidance for Use of the PP1/BS4 Co-Segregation and PP4 Phenotype Specificity Criteria for Sequence Variant Pathogenicity Classification

Leslie G. Biesecker,Alicia B. Byrne,Steven M. Harrison,Tina Pesaran,Alejandro A. Schaeffer,Brian H. Shirts,Sean V. Tavtigian,Heidi L. Rehm

AMERICAN JOURNAL OF HUMAN GENETICSno. 1 (2024)

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Consideration of Disease Penetrance in the Selection of Secondary Findings Gene-Disease Pairs: A Policy Statement of the American College of Medical Genetics and Genomics (ACMG)

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

GENETICS IN MEDICINEno. 7 (2024)

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Assessment of the Evidence Yield for the Calibrated PP3/BP4 Computational Recommendations

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

GENETICS IN MEDICINEno. 11 (2024)

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Clinical Interpretation of KCNH2 Variants Using a Robust PS3/BS3 Functional Patch Clamp Assay

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

HUMAN GENETICS AND GENOMICS ADVANCESno. 2 (2024)

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P673: Batch ClinVar Submission Support in ClinGen’s Variant Curation Interface (VCI)

Matthew Wright, Christine Preston,Karen Dalton,Gloria Cheung,Mark Mandell,Bryan Wulf,Lawrence Babb,Marina DiStefano,Steven Harrison,Clarissa Klein,Rachel Shapira, Ingrid Keseler,Deborah Ritter,Neethu Shah,Kevin Riehle,Aleksandar Milosavljevic,Sharon Plon,Teri Klein

Genetics in Medicine Openno. 1 (2023): 100738-100738

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The Landscape of Reported VUS in Multi-Gene Panel and Genomic Testing: Time for a Change

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

Genetics in Medicineno. 12 (2023): 100947-100947

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