The ClinGen Epilepsy Gene Curation Expert Panel —Bridging the divide between clinical domain knowledge and formal gene curation criteria
Human Mutation,Volume 39, Issue 11, Page 1476-1484, November 2018. (Source: Human Mutation)
Source: Human Mutation - October 12, 2018 Category: Genetics & Stem Cells Authors: Ingo Helbig,
Erin Rooney Riggs,
Carrie ‐Anne Barry,
Karl Martin Klein,
David Dyment,
Courtney Thaxton,
Bekim Sadikovic,
Tristan T. Sands,
Jacy L. Wagnon,
Khalida Liaquat,
Maria Roberta Cilio,
Ghayda Mirzaa,
Kristen Park,
Erika Axeen,
Eliza Source Type: research
Evidence ‐based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group
Human Mutation,Volume 39, Issue 11, Page 1677-1685, November 2018. (Source: Human Mutation)
Source: Human Mutation - October 12, 2018 Category: Genetics & Stem Cells Authors: Elizabeth M. Webber,
Jessica Ezzell Hunter,
Leslie G. Biesecker,
Adam H. Buchanan,
Elizabeth V. Clarke,
Erin Currey,
Orit Dagan ‐Rosenfeld,
Kristy Lee,
Noralane M. Lindor,
Christa Lese Martin,
Aleksandar Milosavljevic,
Kathleen F. Mittendorf, Source Type: research
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
Human Mutation,Volume 39, Issue 11, Page 1593-1613, November 2018. (Source: Human Mutation)
Source: Human Mutation - October 12, 2018 Category: Genetics & Stem Cells Authors: Andrea M. Oza,
Marina T. DiStefano,
Sarah E. Hemphill,
Brandon J. Cushman,
Andrew R. Grant,
Rebecca K. Siegert,
Jun Shen,
Alex Chapin,
Nicole J. Boczek,
Lisa A. Schimmenti,
Jaclyn B. Murry,
Linda Hasadsri,
Kiyomitsu Nara,
Margaret Kenna,
Kev Source Type: research
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene ‐level specification of the ACMG/AMP guidelines for sequence variant interpretation
Human Mutation,Volume 39, Issue 11, Page 1614-1622, November 2018. (Source: Human Mutation)
Source: Human Mutation - October 12, 2018 Category: Genetics & Stem Cells Authors: Edgar A. Rivera ‐Muñoz,
Laura V. Milko,
Steven M. Harrison,
Danielle R. Azzariti,
C. Lisa Kurtz,
Kristy Lee,
Jessica L. Mester,
Meredith A. Weaver,
Erin Currey,
William Craigen,
Charis Eng,
Birgit Funke,
Madhuri Hegde,
Ray E. Hershberger, Source Type: research
The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics
Human Mutation,Volume 39, Issue 11, Page 1713-1720, November 2018. (Source: Human Mutation)
Source: Human Mutation - October 12, 2018 Category: Genetics & Stem Cells Authors: Alice B. Popejoy,
Deborah I. Ritter,
Kristy Crooks,
Erin Currey,
Stephanie M. Fullerton,
Lucia A. Hindorff,
Barbara Koenig,
Erin M. Ramos,
Elena P. Sorokin,
Hannah Wand,
Mathew W. Wright,
James Zou,
Christopher R. Gignoux,
Vence L. Bonham,
S Source Type: research
ClinVar at five years: Delivering on the promise
Human Mutation,Volume 39, Issue 11, Page 1623-1630, November 2018. (Source: Human Mutation)
Source: Human Mutation - October 12, 2018 Category: Genetics & Stem Cells Authors: Melissa J. Landrum,
Brandi L. Kattman Source Type: research
ClinGen advancing genomic data ‐sharing standards as a GA4GH driver project
Human Mutation,Volume 39, Issue 11, Page 1686-1689, November 2018. (Source: Human Mutation)
Source: Human Mutation - October 12, 2018 Category: Genetics & Stem Cells Authors: Lena Dolman,
Angela Page,
Lawrence Babb,
Robert R. Freimuth,
Harindra Arachchi,
Chris Bizon,
Matthew Brush,
Marc Fiume,
Melissa Haendel,
David P. Hansen,
Aleksandar Milosavljevic,
Ronak Y. Patel,
Piotr Pawliczek,
Andrew D. Yates,
Heidi L. Re Source Type: research
Genetic database software as medical devices
Human Mutation,Volume 39, Issue 11, Page 1702-1712, November 2018. (Source: Human Mutation)
Source: Human Mutation - October 12, 2018 Category: Genetics & Stem Cells Authors: Adrian Thorogood,
Seydina B. Tour é,
Johan Ordish,
Alison Hall,
Bartha Knoppers Source Type: research
The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants
Human Mutation,Volume 39, Issue 11, Page 1660-1667, November 2018. (Source: Human Mutation)
Source: Human Mutation - October 12, 2018 Category: Genetics & Stem Cells Authors: Karen E. Wain,
Emily Palen,
Juliann M. Savatt,
Devin Shuman,
Brenda Finucane,
Andrea Seeley,
Thomas D. Challman,
Scott M. Myers,
Christa Lese Martin Source Type: research
The progression of the ClinGen gene clinical validity classification over time
Human Mutation,Volume 39, Issue 11, Page 1494-1504, November 2018. (Source: Human Mutation)
Source: Human Mutation - October 12, 2018 Category: Genetics & Stem Cells Authors: Jennifer L. McGlaughon,
Jennifer L. Goldstein,
Courtney Thaxton,
Sarah E. Hemphill,
Jonathan S. Berg Source Type: research
ClinGen and ClinVar – Enabling Genomics in Precision Medicine
Human Mutation,Volume 39, Issue 11, Page 1473-1475, November 2018. (Source: Human Mutation)
Source: Human Mutation - October 11, 2018 Category: Genetics & Stem Cells Authors: Heidi L. Rehm,
Jonathan S. Berg,
Sharon E. Plon Source Type: research
Cover Image, Volume 39, Issue 11
Human Mutation,Volume 39, Issue 11, Page i-i, November 2018. (Source: Human Mutation)
Source: Human Mutation - October 11, 2018 Category: Genetics & Stem Cells Authors: Diane B. Zastrow,
Heather Baudet,
Wei Shen,
Amanda Thomas,
Yue Si,
Meredith A. Weaver,
Angela M. Lager,
Jixia Liu,
Rachel Mangels,
Selina S. Dwight,
Matt W. Wright,
Steven F. Dobrowolski,
Karen Eilbeck,
Gregory M. Enns,
Annette Feigenbaum,
Source Type: research
Issue Information
Human Mutation,Volume 39, Issue 11, Page 1469-1472, November 2018. (Source: Human Mutation)
Source: Human Mutation - October 11, 2018 Category: Genetics & Stem Cells Source Type: research
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene
Human Mutation,Volume 39, Issue 11, Page 1569-1580, November 2018. (Source: Human Mutation)
Source: Human Mutation - October 11, 2018 Category: Genetics & Stem Cells Authors: Diane B. Zastrow,
Heather Baudet,
Wei Shen,
Amanda Thomas,
Yue Si,
Meredith A. Weaver,
Angela M. Lager,
Jixia Liu,
Rachel Mangels,
Selina S. Dwight,
Matt W. Wright,
Steven F. Dobrowolski,
Karen Eilbeck,
Gregory M. Enns,
Annette Feigenbaum,
Source Type: research
Updated recommendation for the benign stand ‐alone ACMG/AMP criterion
Human Mutation,Volume 39, Issue 11, Page 1525-1530, November 2018. (Source: Human Mutation)
Source: Human Mutation - October 11, 2018 Category: Genetics & Stem Cells Authors: Rajarshi Ghosh,
Steven M. Harrison,
Heidi L. Rehm,
Sharon E. Plon,
Leslie G. Biesecker,
on behalf of ClinGen Sequence Variant Interpretation Working Group Source Type: research
