Literature DB >> 34861172

Genomic medicine year in review: 2021.

Teri A Manolio1, Carol J Bult2, Rex L Chisholm3, Patricia A Deverka4, Geoffrey S Ginsburg5, Madison Goldrich6, Gail P Jarvik7, George A Mensah8, Erin M Ramos6, Mary V Relling9, Dan M Roden10, Robb Rowley6, Marc S Williams11, Eric D Green6.   

Abstract

Entities:  

Year:  2021        PMID: 34861172      PMCID: PMC8715274          DOI: 10.1016/j.ajhg.2021.11.006

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.043


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  8 in total

1.  Genomic Medicine Year in Review: 2020.

Authors:  Teri A Manolio; Carol J Bult; Rex L Chisholm; Patricia A Deverka; Geoffrey S Ginsburg; Madison Goldrich; Gail P Jarvik; George A Mensah; Mary V Relling; Dan M Roden; Robb Rowley; Cecelia Tamburro; Marc S Williams; Eric D Green
Journal:  Am J Hum Genet       Date:  2020-12-03       Impact factor: 11.025

2.  ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.

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; Rong Mao; Robert D Steiner; Lisa M Vincent; Christa L Martin; Sharon E Plon; Erin Ramos; Heidi L Rehm; Michael Watson; Jonathan S Berg
Journal:  Hum Mutat       Date:  2018-11       Impact factor: 4.878

3.  Genomic Medicine Year in Review: 2019.

Authors:  Teri A Manolio; Carol J Bult; Rex L Chisholm; Patricia A Deverka; Geoffrey S Ginsburg; Gail P Jarvik; Howard L McLeod; George A Mensah; Mary V Relling; Dan M Roden; Robb Rowley; Cecelia Tamburro; Marc S Williams; Eric D Green
Journal:  Am J Hum Genet       Date:  2019-12-05       Impact factor: 11.025

4.  Natural history of benign ethnic neutropenia in individuals of African ancestry.

Authors:  Rahul Lakhotia; Anita Aggarwal; Mary E Link; Griffin P Rodgers; Matthew M Hsieh
Journal:  Blood Cells Mol Dis       Date:  2019-03-15       Impact factor: 3.039

5.  Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG).

Authors:  David T Miller; Kristy Lee; Adam S Gordon; Laura M Amendola; Kathy Adelman; Sherri J Bale; Wendy K Chung; Michael H Gollob; Steven M Harrison; Gail E Herman; Ray E Hershberger; Teri E Klein; Kent McKelvey; C Sue Richards; Christopher N Vlangos; Douglas R Stewart; Michael S Watson; Christa Lese Martin
Journal:  Genet Med       Date:  2021-05-20       Impact factor: 8.822

6.  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

7.  ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

Authors:  Robert C Green; Jonathan S Berg; Wayne W Grody; Sarah S Kalia; Bruce R Korf; Christa L Martin; Amy L McGuire; Robert L Nussbaum; Julianne M O'Daniel; Kelly E Ormond; Heidi L Rehm; Michael S Watson; Marc S Williams; Leslie G Biesecker
Journal:  Genet Med       Date:  2013-06-20       Impact factor: 8.822

8.  Clinical outcomes of a genomic screening program for actionable genetic conditions.

Authors:  Adam H Buchanan; H Lester Kirchner; Marci L B Schwartz; Melissa A Kelly; Tara Schmidlen; Laney K Jones; Miranda L G Hallquist; Heather Rocha; Megan Betts; Rachel Schwiter; Loren Butry; Amanda L Lazzeri; Lauren R Frisbie; Alanna Kulchak Rahm; Jing Hao; Huntington F Willard; Christa L Martin; David H Ledbetter; Marc S Williams; Amy C Sturm
Journal:  Genet Med       Date:  2020-06-30       Impact factor: 8.864

  8 in total

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