Literature DB >> 27392081

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

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.   

Abstract

Entities:  

Year:  2016        PMID： 27392081      PMCID： PMC5005465          DOI： 10.1016/j.ajhg.2016.06.001

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  48 in total

1.  Coupling of Human Rhodopsin to a Yeast Signaling Pathway Enables Characterization of Mutations Associated with Retinal Disease.

Authors:  Benjamin M Scott; Steven K Chen; Nihar Bhattacharyya; Abdiwahab Y Moalim; Sergey V Plotnikov; Elise Heon; Sergio G Peisajovich; Belinda S W Chang
Journal:  Genetics       Date:  2018-12-04       Impact factor: 4.562

Review 2.  The frontiers of sequencing in undiagnosed neurodevelopmental diseases.

Authors:  Hane Lee; Stanley F Nelson
Journal:  Curr Opin Genet Dev       Date:  2020-06-27       Impact factor: 5.578

Review 3.  A novel de novo frameshift variant in SETD1B causes epilepsy.

Authors:  Kouhei Den; Mitsuhiro Kato; Tokito Yamaguchi; Satoko Miyatake; Atsushi Takata; Takeshi Mizuguchi; Noriko Miyake; Satomi Mitsuhashi; Naomichi Matsumoto
Journal:  J Hum Genet       Date:  2019-05-20       Impact factor: 3.172

Review 4.  The clinical utility of exome and genome sequencing across clinical indications: a systematic review.

Authors:  Salma Shickh; Chloe Mighton; Elizabeth Uleryk; Petros Pechlivanoglou; Yvonne Bombard
Journal:  Hum Genet       Date:  2021-08-08       Impact factor: 4.132

5.  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

Review 6.  Evolving health care through personal genomics.

Authors:  Heidi L Rehm
Journal:  Nat Rev Genet       Date:  2017-01-31       Impact factor: 53.242

Review 7.  Genetics of dilated cardiomyopathy: practical implications for heart failure management.

Authors:  Andrew N Rosenbaum; Katherine E Agre; Naveen L Pereira
Journal:  Nat Rev Cardiol       Date:  2019-10-11       Impact factor: 32.419

8.  Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy.

Authors:  Tomas Robyns; Cuno Kuiperi; Jeroen Breckpot; Koenraad Devriendt; Erika Souche; Johan Van Cleemput; Rik Willems; Dieter Nuyens; Gert Matthijs; Anniek Corveleyn
Journal:  Eur J Hum Genet       Date:  2017-10-10       Impact factor: 4.246

9.  A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant.

Authors:  Nicole J Lake; Luke E Formosa; David A Stroud; Michael T Ryan; Sarah E Calvo; Vamsi K Mootha; Bharti Morar; Peter G Procopis; John Christodoulou; Alison G Compton; David R Thorburn
Journal:  Hum Mutat       Date:  2019-04-13       Impact factor: 4.878

10.  Genomic Sequencing Expansion and Incomplete Penetrance.

Authors:  Joseph T C Shieh
Journal:  Pediatrics       Date:  2019-01       Impact factor: 7.124
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