Literature DB >> 20037612

Exome sequencing makes medical genomics a reality.

Leslie G Biesecker.   

Abstract

Massively parallel sequencing of the exomes of four individuals with Miller syndrome, combined with filtering to exclude benign and unrelated variants, has identified causative mutations in DHODH. This approach will accelerate discovery of the genetic bases of hundreds of other rare mendelian disorders.

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Year:  2010        PMID： 20037612     DOI： 10.1038/ng0110-13

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  4 in total

1.  Positional cloning moves from perditional to traditional.

Authors:  F S Collins
Journal:  Nat Genet       Date:  1995-04       Impact factor: 38.330

2.  Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.

Authors:  Heike Olbrich; Karsten Häffner; Andreas Kispert; Alexander Völkel; Andreas Volz; Gürsel Sasmaz; Richard Reinhardt; Steffen Hennig; Hans Lehrach; Nikolaus Konietzko; Maimoona Zariwala; Peadar G Noone; Michael Knowles; Hannah M Mitchison; Maggie Meeks; Eddie M K Chung; Friedhelm Hildebrandt; Ralf Sudbrak; Heymut Omran
Journal:  Nat Genet       Date:  2002-01-14       Impact factor: 38.330

3.  Targeted capture and massively parallel sequencing of 12 human exomes.

Authors:  Sarah B Ng; Emily H Turner; Peggy D Robertson; Steven D Flygare; Abigail W Bigham; Choli Lee; Tristan Shaffer; Michelle Wong; Arindam Bhattacharjee; Evan E Eichler; Michael Bamshad; Deborah A Nickerson; Jay Shendure
Journal:  Nature       Date:  2009-08-16       Impact factor: 49.962

4.  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
  4 in total
  65 in total

Review 1.  Exome sequencing: a transformative technology.

Authors:  Andrew B Singleton
Journal:  Lancet Neurol       Date:  2011-10       Impact factor: 44.182

Review 2.  Biomedical impact of splicing mutations revealed through exome sequencing.

Authors:  Bahar Taneri; Esra Asilmaz; Terry Gaasterland
Journal:  Mol Med       Date:  2012-03-30       Impact factor: 6.354

3.  The medical geneticist as expert in the transgenerational and developmental aspects of diseases.

Authors:  György Kosztolányi; Jean-Jacques Cassiman
Journal:  Eur J Hum Genet       Date:  2010-06-30       Impact factor: 4.246

4.  Informed consent for whole genome sequencing: a qualitative analysis of participant expectations and perceptions of risks, benefits, and harms.

Authors:  Holly K Tabor; Jacquie Stock; Tracy Brazg; Margaret J McMillin; Karin M Dent; Joon-Ho Yu; Jay Shendure; Michael J Bamshad
Journal:  Am J Med Genet A       Date:  2012-04-24       Impact factor: 2.802

5.  Next generation sequencing in research and diagnostics of ocular birth defects.

Authors:  Gordana Raca; Craig Jackson; Berta Warman; Tom Bair; Lisa A Schimmenti
Journal:  Mol Genet Metab       Date:  2010-03-15       Impact factor: 4.797

6.  A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

Authors:  Heather E Olson; Nolwenn Jean-Marçais; Edward Yang; Delphine Heron; Katrina Tatton-Brown; Paul A van der Zwaag; Emilia K Bijlsma; Bryan L Krock; E Backer; Erik-Jan Kamsteeg; Margje Sinnema; Margot R F Reijnders; David Bearden; Amber Begtrup; Aida Telegrafi; Roelineke J Lunsing; Lydie Burglen; Gaetan Lesca; Megan T Cho; Lacey A Smith; Beth R Sheidley; Christelle Moufawad El Achkar; Phillip L Pearl; Annapurna Poduri; Cara M Skraban; Jennifer Tarpinian; Addie I Nesbitt; Dietje E Fransen van de Putte; Claudia A L Ruivenkamp; Patrick Rump; Nicolas Chatron; Isabelle Sabatier; Julitta De Bellescize; Laurent Guibaud; David A Sweetser; Jessica L Waxler; Klaas J Wierenga; Jean Donadieu; Vinodh Narayanan; Keri M Ramsey; Caroline Nava; Jean-Baptiste Rivière; Antonio Vitobello; Frédéric Tran Mau-Them; Christophe Philippe; Ange-Line Bruel; Yannis Duffourd; Laurel Thomas; Stefan H Lelieveld; Janneke Schuurs-Hoeijmakers; Han G Brunner; Boris Keren; Julien Thevenon; Laurence Faivre; Gary Thomas; Christel Thauvin-Robinet
Journal:  Am J Hum Genet       Date:  2018-04-12       Impact factor: 11.025

7.  Emerging issues in teratology: an introduction.

Authors:  Sonja A Rasmussen; Jan M Friedman
Journal:  Am J Med Genet C Semin Med Genet       Date:  2011-07-15       Impact factor: 3.908

Review 8.  The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.

Authors:  Jessica X Chong; Kati J Buckingham; Shalini N Jhangiani; Corinne Boehm; Nara Sobreira; Joshua D Smith; Tanya M Harrell; Margaret J McMillin; Wojciech Wiszniewski; Tomasz Gambin; Zeynep H Coban Akdemir; Kimberly Doheny; Alan F Scott; Dimitri Avramopoulos; Aravinda Chakravarti; Julie Hoover-Fong; Debra Mathews; P Dane Witmer; Hua Ling; Kurt Hetrick; Lee Watkins; Karynne E Patterson; Frederic Reinier; Elizabeth Blue; Donna Muzny; Martin Kircher; Kaya Bilguvar; Francesc López-Giráldez; V Reid Sutton; Holly K Tabor; Suzanne M Leal; Murat Gunel; Shrikant Mane; Richard A Gibbs; Eric Boerwinkle; Ada Hamosh; Jay Shendure; James R Lupski; Richard P Lifton; David Valle; Deborah A Nickerson; Michael J Bamshad
Journal:  Am J Hum Genet       Date:  2015-07-09       Impact factor: 11.025

9.  Attitudes of African Americans toward return of results from exome and whole genome sequencing.

Authors:  Joon-Ho Yu; Julia Crouch; Seema M Jamal; Holly K Tabor; Michael J Bamshad
Journal:  Am J Med Genet A       Date:  2013-05       Impact factor: 2.802

Review 10.  Genetics of neurodegenerative diseases: insights from high-throughput resequencing.

Authors:  Shoji Tsuji
Journal:  Hum Mol Genet       Date:  2010-04-22       Impact factor: 6.150
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