Alison J Coffey - Wellcome Trust Genome Campus, The Wellcome Trust Sanger Institute

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论文共 66 篇作者统计合作学者相似作者

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De Novo Variants in GABRA4 Are Associated with a Neurological Phenotype Including Developmental Delay, Behavioral Abnormalities and Epilepsy

European Journal of Human Genetics (2024)

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P570: Generating a Framework for Curating Mechanism of Disease in Monogenic Conditions: A Consensus Effort of the Gene Curation Coalition*

Marina DiStefano,Fowzan Alkuraya,Joanna Amberger,Christina Austin-Tse, Ola Austine,Marie Balzotti,Jonathan Berg,Elspeth Bruford,Alicia Byrne, Elena Cibrian-Uhalte,Alison Coffey,Helen Firth,Ada Hamosh,Sarah Hunt,Teri Klein, Catherine Kurtz,Sarah Leigh,Ivone Leong,Caterina Lucano,Sateesh Maddirevula

Genetics in Medicine Open (2024): 101476

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Development of a Comprehensive Cardiovascular Disease Genetic Risk Assessment Test

Laura M Amendola,Alison J Coffey,Josh Lowry,James Avecilla,Alka Malhotra,Aditi Chawla, Stetson Thacker,Julie P Taylor,Revathi Rajkumar,Carolyn M Brown,Katie Golden-Grant,Rueben Hejja,Jennifer A Lee,Phillip Medrano,Becky Milewski,Felipe Mullen, Andrew Walker, Adriana Huertez-Vasquez,Mauro Longoni,Denise L Perry,Damon Hostin,Subramanian S Ajay,Akanchha Kesari,Samuel P Strom, Elliott Margulies,John Belmont,David E Lanfear,Ryan J Taft

medRxiv the preprint server for health sciences (2024)

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O35: Feasibility of Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions in a Diverse City

Wendy Chung,Alban Ziegler, Carrie Koval-Burt,Denise Kay,Sharon Suchy, Amber Bergtrup,Katherine Langley,Laura Amendola, Brenna Boyd, Jennifer Bradley,Tracy Brandt, Lilian Cohen,Alison Coffey,Joseph Devaney, Beata Dygulska,Bethany Friedman,Ramsey Fuleihan, Awura Gyimah,Rebecca Hernan, Sean Hofherr

Genetics in Medicine Open (2024): 101369

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Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions

Alban Ziegler, Carrie Koval-Burt,Denise M. Kay,Sharon F. Suchy,Amber Begtrup,Katherine G. Langley,Rebecca Hernan,Laura M. Amendola, Brenna M. Boyd, Jennifer Bradley,Tracy Brandt,Lilian L. Cohen,Alison J. Coffey, Joseph M. Devaney, Beata Dygulska,Bethany Friedman,Ramsay L. Fuleihan, Awura Gyimah,Sihoun Hahn, Sean Hofherr,Kathleen S. Hruska,Zhanzhi Hu,Mederic Jeanne, Guanjun Jin, D. Aaron Johnson,Haluk Kavus,Rudolph L. Leibel,Steven J. Lobritto, Stephen McGee,Joshua D. Milner,Kirsty McWalter,Kristin G. Monaghan,Jordan S. Orange, Nicole Pimentel Soler, Yeyson Quevedo, Samantha Ratner,Kyle Retterer, Ankur Shah, Natasha Shapiro,Robert J. Sicko,Eric S. Silver,Samuel Strom,Rebecca I. Torene,Olatundun Williams, Vincent D. Ustach,Julia Wynn,Ryan J. Taft,Paul Kruszka,Michele Caggana,Wendy K. Chung

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION（2024）

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Data-driven Prioritization of Genetic Disorders for Global Genomic Newborn Screening Programs

Thomas Minten,Nina B Gold,Sarah Bick,Sophia Adelson, Nils Gehlenborg,Laura M Amendola,François Boemer,Alison J Coffey, Nicolas Encina, Alessandra Ferlini, Janbernd Kirschner,Bianca E Russell,Laurent Servais, Kristen L Sund,Ryan J Taft, Petros Tsipouras,Hana Zouk, ICoNS Gene List Contributors,David Bick,Robert C Green, International Consortium on Newborn Sequencing (ICoNS)

medRxiv the preprint server for health sciences (2024)

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P213: Exploring Heterogeneity among Gene Lists Proposed for Newborn Sequencing

Thomas Minten,Sophia Adelson,Laura Amendola,David Bick,François Boemer,Alison Coffey, Nicolas Encina,Bianca Russell,Laurent Servais, Kristen Sund,Ryan Taft,Robert Green,Nina Gold

Genetics in Medicine Open (2024): 101110

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P471: Quad Whole Genome Sequencing Detects Reciprocal Copy Number Variants in Affected Siblings, Consistent with Familial Translocation

Katie Golden-Grant, Amanda Buchanan,Alison Coffey,Yvonne Brew,Brittany Thomas,Akanchha Kesari,Denise Perry,Ryan Taft

Genetics in Medicine Openno. 1 (2023): 100518-100518

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P451: the Gene Curation Coalition Works to Resolve Discrepancies in Gene-Disease Validity Assertions

Genetics in medicine openno. 1 (2023): 100498-100498

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Reactive Gene Curation to Support Interpretation and Reporting of a Clinical Genome Test for Rare Disease: Experience from over 1,000 Cases

Amanda R. Clause,Julie P. Taylor,Revathi Rajkumar,Krista Bluske,Maren Bennett,Laura M. Amendola,David R. Bentley,Ryan J. Taft,Denise L. Perry,Alison J. Coffey

Cell Genomicsno. 2 (2023): 100258-100258

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