Literature DB >> 31216405

Reanalysis of Clinical Exome Sequencing Data.

Pengfei Liu1, Linyan Meng1, Elizabeth A Normand1, Fan Xia1, Xiaofei Song1, Andrew Ghazi1, Jill Rosenfeld1, Pilar L Magoulas1, Alicia Braxton1, Patricia Ward1, Hongzheng Dai1, Bo Yuan1, Weimin Bi1, Rui Xiao1, Xia Wang1, Theodore Chiang1, Francesco Vetrini2, Weimin He2, Hanyin Cheng2, Jie Dong2, Charul Gijavanekar2, Paul J Benke3, Jonathan A Bernstein4, Tanya Eble1, Yasemen Eroglu5, Deanna Erwin1, Luis Escobar6, James B Gibson7, Karen Gripp8, Soledad Kleppe9, Mary K Koenig10, Andrea M Lewis1, Marvin Natowicz11, Pedro Mancias10, LaKeesha Minor10, Fernando Scaglia1, Christian P Schaaf12, Haley Streff1, Hilary Vernon13, Crescenda L Uhles14, Elaine H Zackai15, Nan Wu16, V Reid Sutton1, Arthur L Beaudet1, Donna Muzny1, Richard A Gibbs1, Jennifer E Posey1, Seema Lalani1, Chad Shaw1, Christine M Eng1, James R Lupski1, Yaping Yang1.   

Abstract

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Year:  2019        PMID： 31216405      PMCID： PMC6934160          DOI： 10.1056/NEJMc1812033

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  5 in total

1.  Molecular findings among patients referred for clinical whole-exome sequencing.

Authors:  Yaping Yang; Donna M Muzny; Fan Xia; Zhiyv Niu; Richard Person; Yan Ding; Patricia Ward; Alicia Braxton; Min Wang; Christian Buhay; Narayanan Veeraraghavan; Alicia Hawes; Theodore Chiang; Magalie Leduc; Joke Beuten; Jing Zhang; Weimin He; Jennifer Scull; Alecia Willis; Megan Landsverk; William J Craigen; Mir Reza Bekheirnia; Asbjorg Stray-Pedersen; Pengfei Liu; Shu Wen; Wendy Alcaraz; Hong Cui; Magdalena Walkiewicz; Jeffrey Reid; Matthew Bainbridge; Ankita Patel; Eric Boerwinkle; Arthur L Beaudet; James R Lupski; Sharon E Plon; Richard A Gibbs; Christine M Eng
Journal:  JAMA       Date:  2014-11-12       Impact factor: 56.272

2.  Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

Authors:  Yaping Yang; Donna M Muzny; Jeffrey G Reid; Matthew N Bainbridge; Alecia Willis; Patricia A Ward; Alicia Braxton; Joke Beuten; Fan Xia; Zhiyv Niu; Matthew Hardison; Richard Person; Mir Reza Bekheirnia; Magalie S Leduc; Amelia Kirby; Peter Pham; Jennifer Scull; Min Wang; Yan Ding; Sharon E Plon; James R Lupski; Arthur L Beaudet; Richard A Gibbs; Christine M Eng
Journal:  N Engl J Med       Date:  2013-10-02       Impact factor: 91.245

3.  Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.

Authors:  Jennifer E Posey; Tamar Harel; Pengfei Liu; Jill A Rosenfeld; Regis A James; Zeynep H Coban Akdemir; Magdalena Walkiewicz; Weimin Bi; Rui Xiao; Yan Ding; Fan Xia; Arthur L Beaudet; Donna M Muzny; Richard A Gibbs; Eric Boerwinkle; Christine M Eng; V Reid Sutton; Chad A Shaw; Sharon E Plon; Yaping Yang; James R Lupski
Journal:  N Engl J Med       Date:  2016-12-07       Impact factor: 91.245

4.  Lessons learned from additional research analyses of unsolved clinical exome cases.

Authors:  Mohammad K Eldomery; Zeynep Coban-Akdemir; Tamar Harel; Jill A Rosenfeld; Tomasz Gambin; Asbjørg Stray-Pedersen; Sébastien Küry; Sandra Mercier; Davor Lessel; Jonas Denecke; Wojciech Wiszniewski; Samantha Penney; Pengfei Liu; Weimin Bi; Seema R Lalani; Christian P Schaaf; Michael F Wangler; Carlos A Bacino; Richard Alan Lewis; Lorraine Potocki; Brett H Graham; John W Belmont; Fernando Scaglia; Jordan S Orange; Shalini N Jhangiani; Theodore Chiang; Harsha Doddapaneni; Jianhong Hu; Donna M Muzny; Fan Xia; Arthur L Beaudet; Eric Boerwinkle; Christine M Eng; Sharon E Plon; V Reid Sutton; Richard A Gibbs; Jennifer E Posey; Yaping Yang; James R Lupski
Journal:  Genome Med       Date:  2017-03-21       Impact factor: 11.117

5.  Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers.

Authors:  Aaron M Wenger; Harendra Guturu; Jonathan A Bernstein; Gill Bejerano
Journal:  Genet Med       Date:  2016-07-21       Impact factor: 8.822
  5 in total
  65 in total

Review 1.  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

2.  FHIR Lab Reports: using SMART on FHIR and CDS Hooks to increase the clinical utility of pharmacogenomic laboratory test results.

Authors:  Michael Watkins; Karen Eilbeck
Journal:  AMIA Jt Summits Transl Sci Proc       Date:  2020-05-30

3.  Clinical Genetic Screening in Adult Patients with Kidney Disease.

Authors:  Enrico Cocchi; Jordan Gabriela Nestor; Ali G Gharavi
Journal:  Clin J Am Soc Nephrol       Date:  2020-07-09       Impact factor: 8.237

4.  Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.

Authors:  Nurit Assia Batzir; Pranjali Kishor Bhagwat; Austin Larson; Zeynep Coban Akdemir; Maciej Bagłaj; Leon Bofferding; Katherine B Bosanko; Skander Bouassida; Bert Callewaert; Ashley Cannon; Yazmin Enchautegui Colon; Adolfo D Garnica; Margaret H Harr; Sandra Heck; Anna C E Hurst; Shalini N Jhangiani; Bertrand Isidor; Rebecca O Littlejohn; Pengfei Liu; Pilar Magoulas; Helen Mar Fan; Ronit Marom; Scott McLean; Marjan M Nezarati; Kimberly M Nugent; Michael B Petersen; Maria L Rocha; Elizabeth Roeder; Robert Smigiel; Ian Tully; James Weisfeld-Adams; Katerina O Wells; Jennifer E Posey; James R Lupski; Arthur L Beaudet; Michael F Wangler
Journal:  Hum Mutat       Date:  2019-12-19       Impact factor: 4.878

Review 5.  Use of Real-World Evidence in US Payer Coverage Decision-Making for Next-Generation Sequencing-Based Tests: Challenges, Opportunities, and Potential Solutions.

Authors:  Patricia A Deverka; Michael P Douglas; Kathryn A Phillips
Journal:  Value Health       Date:  2020-03-26       Impact factor: 5.725

6.  Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.

Authors:  Chun-An Chen; John Lattier; Wenmiao Zhu; Jill Rosenfeld; Lei Wang; Tiana M Scott; Haowei Du; Vipulkumar Patel; Anh Dang; Pilar Magoulas; Haley Streff; Jessica Sebastian; Shayna Svihovec; Kathryn Curry; Mauricio R Delgado; Neil A Hanchard; Seema Lalani; Ronit Marom; Suneeta Madan-Khetarpal; Margarita Saenz; Hongzheng Dai; Linyan Meng; Fan Xia; Weimin Bi; Pengfei Liu; Jennifer E Posey; Daryl A Scott; James R Lupski; Christine M Eng; Rui Xiao; Bo Yuan
Journal:  Genet Med       Date:  2021-11-30       Impact factor: 8.822

7.  Clinical genomics and contextualizing genome variation in the diagnostic laboratory.

Authors:  James R Lupski; Pengfei Liu; Pawel Stankiewicz; Claudia M B Carvalho; Jennifer E Posey
Journal:  Expert Rev Mol Diagn       Date:  2020-10-10       Impact factor: 5.225

Review 8.  Using Drosophila to drive the diagnosis and understand the mechanisms of rare human diseases.

Authors:  Nichole Link; Hugo J Bellen
Journal:  Development       Date:  2020-09-28       Impact factor: 6.868

Review 9.  Rare genetic causes of complex kidney and urological diseases.

Authors:  Emily E Groopman; Gundula Povysil; David B Goldstein; Ali G Gharavi
Journal:  Nat Rev Nephrol       Date:  2020-08-17       Impact factor: 28.314

10.  Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature.

Authors:  Neringa Jurkute; Priya D Shanmugarajah; Marios Hadjivassiliou; Jenny Higgs; Miodrag Vojcic; Iain Horrocks; Yann Nadjar; Valerie Touitou; Guy Lenaers; Roy Poh; James Acheson; Anthony G Robson; F Lucy Raymond; Mary M Reilly; Patrick Yu-Wai-Man; Anthony T Moore; Andrew R Webster; Gavin Arno
Journal:  Invest Ophthalmol Vis Sci       Date:  2021-05-03       Impact factor: 4.799
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