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"Quest Diagnostics"
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1
P576: Recalibration of scoring metrics to assess the pathogenicity of constitutional copy number variants (CNVs)*
by
Emily Spector
,
Erica Andersen
,
John Herriges
,
Anne Higgins
,
Brynn Levy
,
Ludmila Matyakhina
,
Christa Martin
,
Daniel Pineda-Alvarez
,
Lina Shao
,
Shashirekha Shetty
,
Andrea Vaags
,
Erik Thorland
,
Sung-Hae Kang
,
Chelsea Lowther
,
Dominic McMullan
,
Erin Riggs
Published 2024-01-01
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Article
2
P570: Generating a framework for curating mechanism of disease in monogenic conditions: A consensus effort of the Gene Curation Coalition*
by
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
Published 2024-01-01
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Article
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Institution
Directory Open Access Journal
2 results
2
Format
Article
2 results
2
Author
Erin Riggs
Ada Hamosh
1 results
1
Alicia Byrne
1 results
1
Alison Coffey
1 results
1
Ana Rath
1 results
1
Andrea Vaags
1 results
1
Angharad Roberts
1 results
1
Anne Higgins
1 results
1
Arina Puzriakova
1 results
1
Audrey O'Neill
1 results
1
Bess Wayburn
1 results
1
Brynn Levy
1 results
1
Caterina Lucano
1 results
1
Catherine Kurtz
1 results
1
Catherine Snow
1 results
1
Charlotte Rodwell
1 results
1
Chelsea Lowther
1 results
1
Christa Martin
1 results
1
Christina Austin-Tse
1 results
1
Daniel Pineda-Alvarez
1 results
1
Dominic McMullan
1 results
1
Elena Cibrian-Uhalte
1 results
1
Elspeth Bruford
1 results
1
Emily Spector
1 results
1
Erica Andersen
1 results
1
Erik Thorland
1 results
1
Erin Ramos
1 results
1
Fowzan Alkuraya
1 results
1
Heidi Rehm
1 results
1
Helen Firth
1 results
1
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Language
English
2 results
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