Literature DB >> 28325089

The need to develop a patient-centered precision medicine model for adults with chronic disability.

Susan M Wolf1, Bharat Thyagarajan2, Brent L Fogel3.   

Abstract

Entities:  

Keywords:  Exome sequencing; disability; ethics; genomics; neurology

Mesh：

Year:  2017        PMID： 28325089      PMCID： PMC6038920          DOI： 10.1080/14737159.2017.1309976

Source DB:  PubMed          Journal:  Expert Rev Mol Diagn        ISSN： 1473-7159            Impact factor:   5.225


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  31 in total

1.  Utilization of genetic testing prior to subspecialist referral for cerebellar ataxia.

Authors:  Brent L Fogel; Barbara G Vickrey; Jenny Walton-Wetzel; Eli Lieber; Carole H Browner
Journal:  Genet Test Mol Biomarkers       Date:  2013-06-01

Review 2.  Cerebral palsy: causes, pathways, and the role of genetic variants.

Authors:  Alastair H MacLennan; Suzanna C Thompson; Jozef Gecz
Journal:  Am J Obstet Gynecol       Date:  2015-05-21       Impact factor: 8.661

Review 3.  Epileptic encephalopathies: new genes and new pathways.

Authors:  Sahar Esmaeeli Nieh; Elliott H Sherr
Journal:  Neurotherapeutics       Date:  2014-10       Impact factor: 7.620

4.  Genetic Misdiagnoses and the Potential for Health Disparities.

Authors:  Arjun K Manrai; Birgit H Funke; Heidi L Rehm; Morten S Olesen; Bradley A Maron; Peter Szolovits; David M Margulies; Joseph Loscalzo; Isaac S Kohane
Journal:  N Engl J Med       Date:  2016-08-18       Impact factor: 91.245

Review 5.  The genetic background of Parkinson's disease: current progress and future prospects.

Authors:  K Kalinderi; S Bostantjopoulou; L Fidani
Journal:  Acta Neurol Scand       Date:  2016-02-12       Impact factor: 3.209

6.  Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

Authors:  Brent L Fogel; Hane Lee; Joshua L Deignan; Samuel P Strom; Sibel Kantarci; Xizhe Wang; Fabiola Quintero-Rivera; Eric Vilain; Wayne W Grody; Susan Perlman; Daniel H Geschwind; Stanley F Nelson
Journal:  JAMA Neurol       Date:  2014-10       Impact factor: 18.302

7.  Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

Authors:  Sarah S Kalia; Kathy Adelman; Sherri J Bale; Wendy K Chung; Christine Eng; James P Evans; Gail E Herman; Sophia B Hufnagel; Teri E Klein; Bruce R Korf; Kent D McKelvey; Kelly E Ormond; C Sue Richards; Christopher N Vlangos; Michael Watson; Christa L Martin; David T Miller
Journal:  Genet Med       Date:  2016-11-17       Impact factor: 8.822

8.  Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics.

Authors: 
Journal:  Genet Med       Date:  2015-03-12       Impact factor: 8.822

9.  Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

Authors:  Laura M Amendola; Michael O Dorschner; Peggy D Robertson; Joseph S Salama; Ragan Hart; Brian H Shirts; Mitzi L Murray; Mari J Tokita; Carlos J Gallego; Daniel Seung Kim; James T Bennett; David R Crosslin; Jane Ranchalis; Kelly L Jones; Elisabeth A Rosenthal; Ella R Jarvik; Andy Itsara; Emily H Turner; Daniel S Herman; Jennifer Schleit; Amber Burt; Seema M Jamal; Jenica L Abrudan; Andrew D Johnson; Laura K Conlin; Matthew C Dulik; Avni Santani; Danielle R Metterville; Melissa Kelly; Ann Katherine M Foreman; Kristy Lee; Kent D Taylor; Xiuqing Guo; Kristy Crooks; Lesli A Kiedrowski; Leslie J Raffel; Ora Gordon; Kalotina Machini; Robert J Desnick; Leslie G Biesecker; Steven A Lubitz; Surabhi Mulchandani; Greg M Cooper; Steven Joffe; C Sue Richards; Yaoping Yang; Jerome I Rotter; Stephen S Rich; Christopher J O'Donnell; Jonathan S Berg; Nancy B Spinner; James P Evans; Stephanie M Fullerton; Kathleen A Leppig; Robin L Bennett; Thomas Bird; Virginia P Sybert; William M Grady; Holly K Tabor; Jerry H Kim; Michael J Bamshad; Benjamin Wilfond; Arno G Motulsky; C Ronald Scott; Colin C Pritchard; Tom D Walsh; Wylie Burke; Wendy H Raskind; Peter Byers; Fuki M Hisama; Heidi Rehm; Debbie A Nickerson; Gail P Jarvik
Journal:  Genome Res       Date:  2015-01-30       Impact factor: 9.043

10.  Generating and evaluating evidence of the clinical utility of molecular diagnostic tests in oncology.

Authors:  Patricia Deverka; Donna A Messner; Robert McCormack; Gary H Lyman; Margaret Piper; Linda Bradley; David Parkinson; David Nelson; Howard L McLeod; Mary Lou Smith; Louis Jacques; Tania Dutta; Sean R Tunis
Journal:  Genet Med       Date:  2015-12-03       Impact factor: 8.822
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  2 in total

Review 1.  Clinical application of next-generation sequencing to the practice of neurology.

Authors:  Jessica Rexach; Hane Lee; Julian A Martinez-Agosto; Andrea H Németh; Brent L Fogel
Journal:  Lancet Neurol       Date:  2019-05       Impact factor: 44.182

2.  Collaborative science unites researchers and a novel spastic ataxia gene.

Authors:  Brent L Fogel
Journal:  Ann Neurol       Date:  2018-06       Impact factor: 10.422
  2 in total

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