Literature DB >> 29543229

The ACMG/AMP reputable source criteria for the interpretation of sequence variants.

Leslie G Biesecker1, Steven M Harrison2.   

Abstract

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Year:  2018        PMID： 29543229      PMCID： PMC6709533          DOI： 10.1038/gim.2018.42

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


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  5 in total

1.  Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.

Authors:  Laura M Amendola; Gail P Jarvik; Michael C Leo; Heather M McLaughlin; Yassmine Akkari; Michelle D Amaral; Jonathan S Berg; Sawona Biswas; Kevin M Bowling; Laura K Conlin; Greg M Cooper; Michael O Dorschner; Matthew C Dulik; Arezou A Ghazani; Rajarshi Ghosh; Robert C Green; Ragan Hart; Carrie Horton; Jennifer J Johnston; Matthew S Lebo; Aleksandar Milosavljevic; Jeffrey Ou; Christine M Pak; Ronak Y Patel; Sumit Punj; Carolyn Sue Richards; Joseph Salama; Natasha T Strande; Yaping Yang; Sharon E Plon; Leslie G Biesecker; Heidi L Rehm
Journal:  Am J Hum Genet       Date:  2016-07-07       Impact factor: 11.025

2.  ClinGen--the Clinical Genome Resource.

Authors:  Heidi L Rehm; Jonathan S Berg; Lisa D Brooks; Carlos D Bustamante; James P Evans; Melissa J Landrum; David H Ledbetter; Donna R Maglott; Christa Lese Martin; Robert L Nussbaum; Sharon E Plon; Erin M Ramos; Stephen T Sherry; Michael S Watson
Journal:  N Engl J Med       Date:  2015-05-27       Impact factor: 91.245

3.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

4.  Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Authors:  Keith Nykamp; Michael Anderson; Martin Powers; John Garcia; Blanca Herrera; Yuan-Yuan Ho; Yuya Kobayashi; Nila Patil; Janita Thusberg; Marjorie Westbrook; Scott Topper
Journal:  Genet Med       Date:  2017-05-11       Impact factor: 8.822

5.  Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.

Authors:  Steven M Harrison; Jill S Dolinsky; Amy E Knight Johnson; Tina Pesaran; Danielle R Azzariti; Sherri Bale; Elizabeth C Chao; Soma Das; Lisa Vincent; Heidi L Rehm
Journal:  Genet Med       Date:  2017-03-16       Impact factor: 8.822
  5 in total
  56 in total

1.  A novel deletion variant in CLN3 with highly variable expressivity is responsible for juvenile neuronal ceroid lipofuscinoses.

Authors:  Naser Gilani; Ehsan Razmara; Mehmet Ozaslan; Ihsan Kareem Abdulzahra; Saeid Arzhang; Ali Reza Tavasoli; Masoud Garshasbi
Journal:  Acta Neurol Belg       Date:  2021-03-30       Impact factor: 2.396

2.  Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.

Authors:  Laura M Amendola; Kathleen Muenzen; Leslie G Biesecker; Kevin M Bowling; Greg M Cooper; Michael O Dorschner; Catherine Driscoll; Ann Katherine M Foreman; Katie Golden-Grant; John M Greally; Lucia Hindorff; Dona Kanavy; Vaidehi Jobanputra; Jennifer J Johnston; Eimear E Kenny; Shannon McNulty; Priyanka Murali; Jeffrey Ou; Bradford C Powell; Heidi L Rehm; Bradley Rolf; Tamara S Roman; Jessica Van Ziffle; Saurav Guha; Avinash Abhyankar; David Crosslin; Eric Venner; Bo Yuan; Hana Zouk; Gail P Jarvik
Journal:  Am J Hum Genet       Date:  2020-10-26       Impact factor: 11.025

3.  Overview of Specifications to the ACMG/AMP Variant Interpretation Guidelines.

Authors:  Steven M Harrison; Leslie G Biesecker; Heidi L Rehm
Journal:  Curr Protoc Hum Genet       Date:  2019-09

4.  Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.

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 Mensenkamp; Carla Oliveira; Carolina Pardo; Tina Pesaran; Matthew Richardson; Thomas P Slavin; Amanda B Spurdle; Mackenzie Trapp; Leora Witkowski; Charles S Yi; Liying Zhang; Sharon E Plon; Kasmintan A Schrader; Rachid Karam
Journal:  Hum Mutat       Date:  2018-11       Impact factor: 4.878

5.  Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.

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; Uta Lichter-Konecki; Elaine Lyon; Marzia Pasquali; Michael Watson; Nenad Blau; Robert D Steiner; William J Craigen; Rong Mao
Journal:  Hum Mutat       Date:  2018-11       Impact factor: 4.878

6.  Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

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; Kevin T Booth; Hela Azaiez; Andrew Griffith; Karen B Avraham; Hannie Kremer; Heidi L Rehm; Sami S Amr; Ahmad N Abou Tayoun
Journal:  Hum Mutat       Date:  2018-11       Impact factor: 4.878

7.  Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations.

Authors:  Simone Feurstein; Ayodeji Adegunsoye; Danijela Mojsilovic; Rekha Vij; Allison H West DePersia; Padma Sheila Rajagopal; Afaf Osman; Robert H Collins; Raymond H Kim; Steven D Gore; Peter Greenberg; Lucy A Godley; Zejuan Li; Daniela Del Gaudio; Hari Prasanna Subramanian; Soma Das; Tom Walsh; Suleyman Gulsuner; Jeremy P Segal; Aliya N Husain; Sandeep Gurbuxani; Mary-Claire King; Mary E Strek; Jane E Churpek
Journal:  Blood Adv       Date:  2020-10-13

8.  Application of ACMG criteria to classify variants in the human gene mutation database.

Authors:  Hui-Qi Qu; Xiang Wang; Lifeng Tian; Hakon Hakonarson
Journal:  J Hum Genet       Date:  2019-08-26       Impact factor: 3.172

9.  Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students.

Authors:  Megan E Grove; Shana White; Dianna G Fisk; Shannon Rego; Orit Dagan-Rosenfeld; Jennefer N Kohler; Chloe M Reuter; Devon Bonner; Matthew T Wheeler; Jonathan A Bernstein; Kelly E Ormond; Andrea K Hanson-Kahn
Journal:  J Genet Couns       Date:  2019-02-01       Impact factor: 2.537

10.  Clinical Interpretation of Sequence Variants.

Authors:  Junyu Zhang; Yanyi Yao; Haixian He; Jun Shen
Journal:  Curr Protoc Hum Genet       Date:  2020-06
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