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 11, 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
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 11, 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 11, 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 11, 2018 Category: Genetics & Stem Cells Authors: Melissa J. Landrum,
Brandi L. Kattman 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 11, 2018 Category: Genetics & Stem Cells Authors: Jennifer L. McGlaughon,
Jennifer L. Goldstein,
Courtney Thaxton,
Sarah E. Hemphill,
Jonathan S. Berg Source Type: research
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - October 10, 2018 Category: Genetics & Stem Cells Authors: Elodie M. Richard,
Regie LP. Santos ‐Cortez,
Rabia Faridi,
Atteeq U. Rehman,
Kwanghyuk Lee,
Mohsin Shahzad,
Anushree Acharya,
Asma A. Khan,
Ayesha Imtiaz,
Imen Chakchouk,
Christina Takla,
Izoduwa Abbe,
Maria Rafeeq,
Khurram Liaqat,
Taimur Source Type: research
Framework for microRNA variant annotation and prioritization using human population and disease datasets
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - October 10, 2018 Category: Genetics & Stem Cells Authors: Ninad Oak,
Rajarshi Ghosh,
Kuan ‐lin Huang,
David A. Wheeler,
Li Ding,
Sharon E. Plon Source Type: research
Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - October 10, 2018 Category: Genetics & Stem Cells Authors: Stefania Magri,
Valentina Fracasso,
Massimo Plumari,
Enrico Alfei,
Daniele Ghezzi,
Cinzia Gellera,
Paola Rusmini,
Angelo Poletti,
Daniela Bella,
Antonio E. Elia,
Chiara Pantaleoni,
Franco Taroni Source Type: research
Functional evidence implicating NOTCH2 missense mutations in primary ovarian insufficiency aetiology
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - October 10, 2018 Category: Genetics & Stem Cells Authors: Liliana C. Pati ño,
Isabelle Beau,
Adrien Morel,
Brigitte Delemer,
Jacques Young,
Nadine Binart,
Paul Laissue Source Type: research
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - October 10, 2018 Category: Genetics & Stem Cells Authors: Elodie M. Richard,
Regie LP. Santos ‐Cortez,
Rabia Faridi,
Atteeq U. Rehman,
Kwanghyuk Lee,
Mohsin Shahzad,
Anushree Acharya,
Asma A. Khan,
Ayesha Imtiaz,
Imen Chakchouk,
Christina Takla,
Izoduwa Abbe,
Maria Rafeeq,
Khurram Liaqat,
Taimur Source Type: research
Framework for microRNA variant annotation and prioritization using human population and disease datasets
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - October 10, 2018 Category: Genetics & Stem Cells Authors: Ninad Oak,
Rajarshi Ghosh,
Kuan ‐lin Huang,
David A. Wheeler,
Li Ding,
Sharon E. Plon Source Type: research
CardioVAI: An automatic implementation of ACMG ‐AMP variant interpretation guidelines in the diagnosis of cardiovascular diseases
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - October 9, 2018 Category: Genetics & Stem Cells Authors: Giovanna Nicora,
Ivan Limongelli,
Patrick Gambelli,
Mirella Memmi,
Alberto Malovini,
Andrea Mazzanti,
Carlo Napolitano,
Silvia Priori,
Riccardo Bellazzi Source Type: research
In Vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - October 9, 2018 Category: Genetics & Stem Cells Authors: Asma Tajouri,
Maher Kharrat,
Syrine Hizem,
Hajer Zaghdoudi,
Ridha M'rad,
Gunter Simic ‐Schleicher,
Frank J. Kaiser,
Olaf Hiort,
Ralf Werner Source Type: research
Is evolutionary loss our gain? The role of ACTN3 p.Arg577Ter (R577X) genotype in athletic performance, ageing and disease
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - October 3, 2018 Category: Genetics & Stem Cells Authors: Peter J. Houweling,
Ioannis D. Papadimitriou,
Jane T. Seto,
Laura M. P érez,
Juan Del Coso,
Kathryn N. North,
Alejandro Lucia,
Nir Eynon Source Type: research
Current review of TP53 pathogenic germline variants in breast cancer patients outside Li ‐Fraumeni syndrome
Human Mutation, EarlyView. (Source: Human Mutation)
Source: Human Mutation - October 3, 2018 Category: Genetics & Stem Cells Authors: Cristina Fortuno,
Paul A. James,
Amanda B. Spurdle Source Type: research
