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 12, 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 12, 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 12, 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 12, 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
On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencing
Human Mutation,Volume 39, Issue 11, Page 1505-1516, November 2018. (Source: Human Mutation)
Source: Human Mutation - October 12, 2018 Category: Genetics & Stem Cells Authors: Isabelle Thiffault,
Maxime Cadieux ‐Dion,
Emily Farrow,
Raymond Caylor,
Neil Miller,
Sarah Soden,
Carol Saunders Source Type: research
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach
Human Mutation,Volume 39, Issue 11, Page 1641-1649, November 2018. (Source: Human Mutation)
Source: Human Mutation - October 12, 2018 Category: Genetics & Stem Cells Authors: Steven M. Harrison,
Jill S. Dolinksy,
Wenjie Chen,
Christin D. Collins,
Soma Das,
Joshua L. Deignan,
Kathryn B. Garber,
John Garcia,
Olga Jarinova,
Amy E. Knight Johnson,
Juha W. Koskenvuo,
Hane Lee,
Rong Mao,
Rebecca Mar ‐Heyming,
Andrew 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 12, 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
Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes
Human Mutation,Volume 39, Issue 11, Page 1542-1552, November 2018. (Source: Human Mutation)
Source: Human Mutation - October 12, 2018 Category: Genetics & Stem Cells Authors: Michael F. Walsh,
Deborah I. Ritter,
Chimene Kesserwan,
Dmitriy Sonkin,
Debyani Chakravarty,
Elizabeth Chao,
Rajarshi Ghosh,
Yelena Kemel,
Gang Wu,
Kristy Lee,
Shashikant Kulkarni,
Dale Hedges,
Diana Mandelker,
Ozge Ceyhan ‐Birsoy,
Minjie Source Type: research
Assessing the gene –disease association of 19 genes with the RASopathies using the ClinGen gene curation framework
Human Mutation,Volume 39, Issue 11, Page 1485-1493, November 2018. (Source: Human Mutation)
Source: Human Mutation - October 12, 2018 Category: Genetics & Stem Cells Authors: Andrew R. Grant,
Brandon J. Cushman,
H élène Cavé,
Mitchell W. Dillon,
Bruce D. Gelb,
Karen W. Gripp,
Jennifer A. Lee,
Heather Mason‐Suares,
Katherine A. Rauen,
Marco Tartaglia,
Lisa M. Vincent,
Martin Zenker Source Type: research
Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community ‐driven standards
Human Mutation,Volume 39, Issue 11, Page 1721-1732, November 2018. (Source: Human Mutation)
Source: Human Mutation - October 12, 2018 Category: Genetics & Stem Cells Authors: Arpad M. Danos,
Deborah I. Ritter,
Alex H. Wagner,
Kilannin Krysiak,
Dmitriy Sonkin,
Christine Micheel,
Matthew McCoy,
Shruti Rao,
Gordana Raca,
Simina M. Boca,
Angshumoy Roy,
Erica K. Barnell,
Joshua F. McMichael,
Susanna Kiwala,
Adam C. Co Source Type: research
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants
Human Mutation,Volume 39, Issue 11, Page 1553-1568, November 2018. (Source: Human Mutation)
Source: Human Mutation - October 12, 2018 Category: Genetics & Stem Cells Authors: Kristy Lee,
Kate Krempely,
Maegan E. Roberts,
Michael J. Anderson,
Fatima Carneiro,
Elizabeth Chao,
Katherine Dixon,
Joana Figueiredo,
Rajarshi Ghosh,
David Huntsman,
Pardeep Kaurah,
Chimene Kesserwan,
Tyler Landrith,
Shuwei Li,
Arjen R. Men Source Type: research
ClinGen Allele Registry links information about genetic variants
Human Mutation,Volume 39, Issue 11, Page 1690-1701, November 2018. (Source: Human Mutation)
Source: Human Mutation - October 12, 2018 Category: Genetics & Stem Cells Authors: Piotr Pawliczek,
Ronak Y. Patel,
Lillian R. Ashmore,
Andrew R. Jackson,
Chris Bizon,
Tristan Nelson,
Bradford Powell,
Robert R. Freimuth,
Natasha Strande,
Neethu Shah,
Sameer Paithankar,
Matt W. Wright,
Selina Dwight,
Jimmy Zhen,
Melissa Lan Source Type: research
Gene ‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel
Human Mutation,Volume 39, Issue 11, Page 1581-1592, November 2018. (Source: Human Mutation)
Source: Human Mutation - October 12, 2018 Category: Genetics & Stem Cells Authors: Jessica L. Mester,
Rajarshi Ghosh,
Tina Pesaran,
Robert Huether,
Rachid Karam,
Kathleen S. Hruska,
Helio A. Costa,
Katherine Lachlan,
Joanne Ngeow,
Jill Barnholtz ‐Sloan,
Kaitlin Sesock,
Felicia Hernandez,
Liying Zhang,
Laura Milko,
Sharon Source Type: research
ClinVar database of global familial hypercholesterolemia ‐associated DNA variants
Human Mutation,Volume 39, Issue 11, Page 1631-1640, November 2018. (Source: Human Mutation)
Source: Human Mutation - October 12, 2018 Category: Genetics & Stem Cells Authors: Michael A. Iacocca,
Joana R. Chora,
Alain Carri é,
Tomáš Freiberger,
Sarah E. Leigh,
Joep C. Defesche,
C. Lisa Kurtz,
Marina T. DiStefano,
Raul D. Santos,
Steve E. Humphries,
Pedro Mata,
Cinthia E. Jannes,
Amanda J. Hooper,
Katherine A. Wi Source Type: research
ClinGen's GenomeConnect registry enables patient ‐centered data sharing
Human Mutation,Volume 39, Issue 11, Page 1668-1676, November 2018. (Source: Human Mutation)
Source: Human Mutation - October 12, 2018 Category: Genetics & Stem Cells Authors: Juliann M. Savatt,
Danielle R. Azzariti,
W. Andrew Faucett,
Steven Harrison,
Jennifer Hart,
Brandi Kattman,
Melissa J. Landrum,
David H. Ledbetter,
Vanessa Rangel Miller,
Emily Palen,
Heidi L. Rehm,
Jud Rhode,
Stefanie Turner,
Jo Anne Vidal, Source Type: research
