Genetics in Medicine Open (Jan 2024)
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,
- Audrey O'Neill,
- Arina Puzriakova,
- Ana Rath,
- Angharad Roberts,
- Kelly Radtke,
- Erin Ramos,
- Erin Riggs,
- Charlotte Rodwell,
- Julie Taylor,
- Katrin Sangkuhl,
- Catherine Snow,
- Zornitza Stark,
- James Ware,
- Bess Wayburn,
- Phillip Weller,
- Heidi Rehm
Affiliations
- Marina DiStefano
- The Broad Institute
- Fowzan Alkuraya
- King Faisal Specialist Hospital
- Joanna Amberger
- Johns Hopkins School of Medicine
- Christina Austin-Tse
- The Broad Institute
- Ola Austine
- European Molecular Biology Laboratory, European Bioinformatics Institute
- Marie Balzotti
- Myriad Womens Health
- Jonathan Berg
- UNC Medical School
- Elspeth Bruford
- European Molecular Biology Laboratory, European Bioinformatics Institute
- Alicia Byrne
- The Broad Institute
- Elena Cibrian-Uhalte
- European Molecular Biology Laboratory, European Bioinformatics Institute
- Alison Coffey
- Illumina Inc.
- Helen Firth
- European Molecular Biology Laboratory, European Bioinformatics Institute
- Ada Hamosh
- Johns Hopkins School of Medicine
- Sarah Hunt
- European Molecular Biology Laboratory, European Bioinformatics Institute
- Teri Klein
- Stanford University
- Catherine Kurtz
- Quest Diagnostics
- Sarah Leigh
- Genomics England
- Ivone Leong
- Genomics England
- Caterina Lucano
- Inserm – Orphanet
- Sateesh Maddirevula
- King Faisal Specialist Hospital
- Audrey O'Neill
- Invitae
- Arina Puzriakova
- Genomics England
- Ana Rath
- Inserm – Orphanet
- Angharad Roberts
- Imperial College
- Kelly Radtke
- Ambry Genetics
- Erin Ramos
- NIH
- Erin Riggs
- Geisinger
- Charlotte Rodwell
- Inserm – Orphanet
- Julie Taylor
- Illumina Inc.
- Katrin Sangkuhl
- Stanford University
- Catherine Snow
- Genomics England
- Zornitza Stark
- Victoria Clinical Genetics Service
- James Ware
- Imperial College
- Bess Wayburn
- Ambry Genetics
- Phillip Weller
- Geisinger
- Heidi Rehm
- The Broad Institute
- Journal volume & issue
-
Vol. 2
p. 101476
