Literature DB >> 21651510

Exome sequencing in Parkinson's disease.

Jose M Bras1, A B Singleton.   

Abstract

Exome sequencing is rapidly becoming a fundamental tool for genetics and functional genomics laboratories. This methodology has enabled the discovery of novel pathogenic mutations causing mendelian diseases that had, until now, remained elusive. In this review, we discuss not only how we envisage exome sequencing being applied to a complex disease, such as Parkinson's disease, but also what are the known caveats of this approach.
© 2011 John Wiley & Sons A/S.

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Year:  2011        PMID: 21651510      PMCID: PMC3135730          DOI: 10.1111/j.1399-0004.2011.01722.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  33 in total

1.  Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms.

Authors:  Ivan P Gorlov; Olga Y Gorlova; Shamil R Sunyaev; Margaret R Spitz; Christopher I Amos
Journal:  Am J Hum Genet       Date:  2008-01       Impact factor: 11.025

2.  Mutation in the alpha-synuclein gene identified in families with Parkinson's disease.

Authors:  M H Polymeropoulos; C Lavedan; E Leroy; S E Ide; A Dehejia; A Dutra; B Pike; H Root; J Rubenstein; R Boyer; E S Stenroos; S Chandrasekharappa; A Athanassiadou; T Papapetropoulos; W G Johnson; A M Lazzarini; R C Duvoisin; G Di Iorio; L I Golbe; R L Nussbaum
Journal:  Science       Date:  1997-06-27       Impact factor: 47.728

3.  Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases.

Authors:  A J Hughes; S E Daniel; L Kilford; A J Lees
Journal:  J Neurol Neurosurg Psychiatry       Date:  1992-03       Impact factor: 10.154

4.  Exome sequencing reveals VCP mutations as a cause of familial ALS.

Authors:  Janel O Johnson; Jessica Mandrioli; Michael Benatar; Yevgeniya Abramzon; Vivianna M Van Deerlin; John Q Trojanowski; J Raphael Gibbs; Maura Brunetti; Susan Gronka; Joanne Wuu; Jinhui Ding; Leo McCluskey; Maria Martinez-Lage; Dana Falcone; Dena G Hernandez; Sampath Arepalli; Sean Chong; Jennifer C Schymick; Jeffrey Rothstein; Francesco Landi; Yong-Dong Wang; Andrea Calvo; Gabriele Mora; Mario Sabatelli; Maria Rosaria Monsurrò; Stefania Battistini; Fabrizio Salvi; Rossella Spataro; Patrizia Sola; Giuseppe Borghero; Giuliana Galassi; Sonja W Scholz; J Paul Taylor; Gabriella Restagno; Adriano Chiò; Bryan J Traynor
Journal:  Neuron       Date:  2010-12-09       Impact factor: 17.173

5.  TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.

Authors:  Jun Ling Wang; Xu Yang; Kun Xia; Zheng Mao Hu; Ling Weng; Xin Jin; Hong Jiang; Peng Zhang; Lu Shen; Ji Feng Guo; Nan Li; Ying Rui Li; Li Fang Lei; Jie Zhou; Juan Du; Ya Fang Zhou; Qian Pan; Jian Wang; Jun Wang; Rui Qiang Li; Bei Sha Tang
Journal:  Brain       Date:  2010-11-23       Impact factor: 13.501

Review 6.  Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).

Authors:  Kathleen S Hruska; Mary E LaMarca; C Ronald Scott; Ellen Sidransky
Journal:  Hum Mutat       Date:  2008-05       Impact factor: 4.878

7.  Exome localization of complex disease association signals.

Authors:  Benjamin Lehne; Cathryn M Lewis; Thomas Schlitt
Journal:  BMC Genomics       Date:  2011-02-01       Impact factor: 3.969

8.  Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia.

Authors:  Jonathan Rios; Evan Stein; Jay Shendure; Helen H Hobbs; Jonathan C Cohen
Journal:  Hum Mol Genet       Date:  2010-08-18       Impact factor: 6.150

9.  Exome sequencing identifies the cause of a mendelian disorder.

Authors:  Sarah B Ng; Kati J Buckingham; Choli Lee; Abigail W Bigham; Holly K Tabor; Karin M Dent; Chad D Huff; Paul T Shannon; Ethylin Wang Jabs; Deborah A Nickerson; Jay Shendure; Michael J Bamshad
Journal:  Nat Genet       Date:  2009-11-13       Impact factor: 38.330

10.  Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing.

Authors:  Andreas Gnirke; Alexandre Melnikov; Jared Maguire; Peter Rogov; Emily M LeProust; William Brockman; Timothy Fennell; Georgia Giannoukos; Sheila Fisher; Carsten Russ; Stacey Gabriel; David B Jaffe; Eric S Lander; Chad Nusbaum
Journal:  Nat Biotechnol       Date:  2009-02-01       Impact factor: 54.908

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  9 in total

1.  Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.

Authors:  Krishna R Veeramah; Laurel Johnstone; Tatiana M Karafet; Daniel Wolf; Ryan Sprissler; John Salogiannis; Asa Barth-Maron; Michael E Greenberg; Till Stuhlmann; Stefanie Weinert; Thomas J Jentsch; Marjorie Pazzi; Linda L Restifo; Dinesh Talwar; Robert P Erickson; Michael F Hammer
Journal:  Epilepsia       Date:  2013-05-03       Impact factor: 5.864

2.  Exome Sequencing: Current and Future Perspectives.

Authors:  Amanda Warr; Christelle Robert; David Hume; Alan Archibald; Nader Deeb; Mick Watson
Journal:  G3 (Bethesda)       Date:  2015-07-02       Impact factor: 3.154

3.  Purifying selection in deeply conserved human enhancers is more consistent than in coding sequences.

Authors:  Dilrini R De Silva; Richard Nichols; Greg Elgar
Journal:  PLoS One       Date:  2014-07-25       Impact factor: 3.240

4.  Increased Oxidative Stress Markers in Cerebrospinal Fluid from Healthy Subjects with Parkinson's Disease-Associated LRRK2 Gene Mutations.

Authors:  David A Loeffler; Andrea C Klaver; Mary P Coffey; Jan O Aasly; Peter A LeWitt
Journal:  Front Aging Neurosci       Date:  2017-04-03       Impact factor: 5.750

5.  Excess of singleton loss-of-function variants in Parkinson's disease contributes to genetic risk.

Authors:  Dheeraj Reddy Bobbili; Peter Banda; Rejko Krüger; Patrick May
Journal:  J Med Genet       Date:  2020-02-13       Impact factor: 6.318

6.  Effect of Genetic Testing on Diagnosing Gastrointestinal Pediatric Patients with Previously Undiagnosed Diseases.

Authors:  Eyad Altamimi; Mariam Khanfar; Omar Rabab'h; Zain Dardas; Luma Srour; Lina Mustafa; Bilal Azab
Journal:  Appl Clin Genet       Date:  2020-12-16

7.  Current Status of Next-Generation Sequencing Approaches for Candidate Gene Discovery in Familial Parkinson´s Disease.

Authors:  Nikita Simone Pillay; Owen A Ross; Alan Christoffels; Soraya Bardien
Journal:  Front Genet       Date:  2022-03-01       Impact factor: 4.599

Review 8.  Next generation sequencing for neurological diseases: new hope or new hype?

Authors:  M J Keogh; P F Chinnery
Journal:  Clin Neurol Neurosurg       Date:  2012-11-30       Impact factor: 1.876

9.  WEP: a high-performance analysis pipeline for whole-exome data.

Authors:  Mattia D'Antonio; Paolo D'Onorio De Meo; Daniele Paoletti; Berardino Elmi; Matteo Pallocca; Nico Sanna; Ernesto Picardi; Graziano Pesole; Tiziana Castrignanò
Journal:  BMC Bioinformatics       Date:  2013-04-22       Impact factor: 3.169

  9 in total

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