Literature DB >> 22566424

The impact of genomics on pediatric research and medicine.

John J Connolly1, Hakon Hakonarson.   

Abstract

In this review, we discuss some of the most recent developments in genomics research and their relevance to the field of pediatrics. In particular, we examine 3 major approaches that are being used to identify genetic correlates of disease: genome-wide association studies, copy number variation studies, and next-generation sequencing. In the past few years, these approaches have yielded major insights into the causes and pathophysiology of a wide range of diseases but are also constrained by certain limitations. This review provides an overview of the genomic landscape in complex pediatric disorders and sets the stage for translating new discoveries into clinical practice, the future of genomic medicine.

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Year:  2012        PMID： 22566424      PMCID： PMC3362911          DOI： 10.1542/peds.2011-3636

Source DB:  PubMed          Journal:  Pediatrics        ISSN： 0031-4005            Impact factor:   7.124


  101 in total

Review 1.  Genomic copy number variation in disorders of cognitive development.

Authors:  Eric M Morrow
Journal:  J Am Acad Child Adolesc Psychiatry       Date:  2010-11       Impact factor: 8.829

Review 2.  Asthma.

Authors:  Christopher H Fanta
Journal:  N Engl J Med       Date:  2009-03-05       Impact factor: 91.245

Review 3.  Genome-wide association: from confounded to confident.

Authors:  Joseph T Glessner; Hakon Hakonarson
Journal:  Neuroscientist       Date:  2011-01-20       Impact factor: 7.519

4.  Towards a comprehensive structural variation map of an individual human genome.

Authors:  Andy W Pang; Jeffrey R MacDonald; Dalila Pinto; John Wei; Muhammad A Rafiq; Donald F Conrad; Hansoo Park; Matthew E Hurles; Charles Lee; J Craig Venter; Ewen F Kirkness; Samuel Levy; Lars Feuk; Stephen W Scherer
Journal:  Genome Biol       Date:  2010-05-19       Impact factor: 13.583

5.  Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.

Authors:  Joseph T Glessner; Kai Wang; Guiqing Cai; Olena Korvatska; Cecilia E Kim; Shawn Wood; Haitao Zhang; Annette Estes; Camille W Brune; Jonathan P Bradfield; Marcin Imielinski; Edward C Frackelton; Jennifer Reichert; Emily L Crawford; Jeffrey Munson; Patrick M A Sleiman; Rosetta Chiavacci; Kiran Annaiah; Kelly Thomas; Cuiping Hou; Wendy Glaberson; James Flory; Frederick Otieno; Maria Garris; Latha Soorya; Lambertus Klei; Joseph Piven; Kacie J Meyer; Evdokia Anagnostou; Takeshi Sakurai; Rachel M Game; Danielle S Rudd; Danielle Zurawiecki; Christopher J McDougle; Lea K Davis; Judith Miller; David J Posey; Shana Michaels; Alexander Kolevzon; Jeremy M Silverman; Raphael Bernier; Susan E Levy; Robert T Schultz; Geraldine Dawson; Thomas Owley; William M McMahon; Thomas H Wassink; John A Sweeney; John I Nurnberger; Hilary Coon; James S Sutcliffe; Nancy J Minshew; Struan F A Grant; Maja Bucan; Edwin H Cook; Joseph D Buxbaum; Bernie Devlin; Gerard D Schellenberg; Hakon Hakonarson
Journal:  Nature       Date:  2009-04-28       Impact factor: 49.962

6.  Disruption of neurexin 1 associated with autism spectrum disorder.

Authors:  Hyung-Goo Kim; Shotaro Kishikawa; Anne W Higgins; Ihn-Sik Seong; Diana J Donovan; Yiping Shen; Eric Lally; Lauren A Weiss; Juliane Najm; Kerstin Kutsche; Maria Descartes; Lynn Holt; Stephen Braddock; Robin Troxell; Lee Kaplan; Fred Volkmar; Ami Klin; Katherine Tsatsanis; David J Harris; Ilse Noens; David L Pauls; Mark J Daly; Marcy E MacDonald; Cynthia C Morton; Bradley J Quade; James F Gusella
Journal:  Am J Hum Genet       Date:  2008-01       Impact factor: 11.025

7.  Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease.

Authors:  Subra Kugathasan; Robert N Baldassano; Jonathan P Bradfield; Patrick M A Sleiman; Marcin Imielinski; Stephen L Guthery; Salvatore Cucchiara; Cecilia E Kim; Edward C Frackelton; Kiran Annaiah; Joseph T Glessner; Erin Santa; Tara Willson; Andrew W Eckert; Erin Bonkowski; Julie L Shaner; Ryan M Smith; F George Otieno; Nicholas Peterson; Debra J Abrams; Rosetta M Chiavacci; Robert Grundmeier; Petar Mamula; Gitit Tomer; David A Piccoli; Dimitri S Monos; Vito Annese; Lee A Denson; Struan F A Grant; Hakon Hakonarson
Journal:  Nat Genet       Date:  2008-08-31       Impact factor: 38.330

8.  Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.

Authors:  Carl A Anderson; Gabrielle Boucher; Charlie W Lees; Andre Franke; Mauro D'Amato; Kent D Taylor; James C Lee; Philippe Goyette; Marcin Imielinski; Anna Latiano; Caroline Lagacé; Regan Scott; Leila Amininejad; Suzannah Bumpstead; Leonard Baidoo; Robert N Baldassano; Murray Barclay; Theodore M Bayless; Stephan Brand; Carsten Büning; Jean-Frédéric Colombel; Lee A Denson; Martine De Vos; Marla Dubinsky; Cathryn Edwards; David Ellinghaus; Rudolf S N Fehrmann; James A B Floyd; Timothy Florin; Denis Franchimont; Lude Franke; Michel Georges; Jürgen Glas; Nicole L Glazer; Stephen L Guthery; Talin Haritunians; Nicholas K Hayward; Jean-Pierre Hugot; Gilles Jobin; Debby Laukens; Ian Lawrance; Marc Lémann; Arie Levine; Cecile Libioulle; Edouard Louis; Dermot P McGovern; Monica Milla; Grant W Montgomery; Katherine I Morley; Craig Mowat; Aylwin Ng; William Newman; Roel A Ophoff; Laura Papi; Orazio Palmieri; Laurent Peyrin-Biroulet; Julián Panés; Anne Phillips; Natalie J Prescott; Deborah D Proctor; Rebecca Roberts; Richard Russell; Paul Rutgeerts; Jeremy Sanderson; Miquel Sans; Philip Schumm; Frank Seibold; Yashoda Sharma; Lisa A Simms; Mark Seielstad; A Hillary Steinhart; Stephan R Targan; Leonard H van den Berg; Morten Vatn; Hein Verspaget; Thomas Walters; Cisca Wijmenga; David C Wilson; Harm-Jan Westra; Ramnik J Xavier; Zhen Z Zhao; Cyriel Y Ponsioen; Vibeke Andersen; Leif Torkvist; Maria Gazouli; Nicholas P Anagnou; Tom H Karlsen; Limas Kupcinskas; Jurgita Sventoraityte; John C Mansfield; Subra Kugathasan; Mark S Silverberg; Jonas Halfvarson; Jerome I Rotter; Christopher G Mathew; Anne M Griffiths; Richard Gearry; Tariq Ahmad; Steven R Brant; Mathias Chamaillard; Jack Satsangi; Judy H Cho; Stefan Schreiber; Mark J Daly; Jeffrey C Barrett; Miles Parkes; Vito Annese; Hakon Hakonarson; Graham Radford-Smith; Richard H Duerr; Séverine Vermeire; Rinse K Weersma; John D Rioux
Journal:  Nat Genet       Date:  2011-02-06       Impact factor: 38.330

9.  Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.

Authors:  Yi Yu; Tushar R Bhangale; Jesen Fagerness; Stephan Ripke; Gudmar Thorleifsson; Perciliz L Tan; Eric H Souied; Andrea J Richardson; Joanna E Merriam; Gabriëlle H S Buitendijk; Robyn Reynolds; Soumya Raychaudhuri; Kimberly A Chin; Lucia Sobrin; Evangelos Evangelou; Phil H Lee; Aaron Y Lee; Nicolas Leveziel; Donald J Zack; Betsy Campochiaro; Peter Campochiaro; R Theodore Smith; Gaetano R Barile; Robyn H Guymer; Ruth Hogg; Usha Chakravarthy; Luba D Robman; Omar Gustafsson; Haraldur Sigurdsson; Ward Ortmann; Timothy W Behrens; Kari Stefansson; André G Uitterlinden; Cornelia M van Duijn; Johannes R Vingerling; Caroline C W Klaver; Rando Allikmets; Milam A Brantley; Paul N Baird; Nicholas Katsanis; Unnur Thorsteinsdottir; John P A Ioannidis; Mark J Daly; Robert R Graham; Johanna M Seddon
Journal:  Hum Mol Genet       Date:  2011-06-10       Impact factor: 6.150

10.  Common variants at five new loci associated with early-onset inflammatory bowel disease.

Authors:  Marcin Imielinski; Robert N Baldassano; Anne Griffiths; Richard K Russell; Vito Annese; Marla Dubinsky; Subra Kugathasan; Jonathan P Bradfield; Thomas D Walters; Patrick Sleiman; Cecilia E Kim; Aleixo Muise; Kai Wang; Joseph T Glessner; Shehzad Saeed; Haitao Zhang; Edward C Frackelton; Cuiping Hou; James H Flory; George Otieno; Rosetta M Chiavacci; Robert Grundmeier; Massimo Castro; Anna Latiano; Bruno Dallapiccola; Joanne Stempak; Debra J Abrams; Kent Taylor; Dermot McGovern; Gary Silber; Iwona Wrobel; Antonio Quiros; Jeffrey C Barrett; Sarah Hansoul; Dan L Nicolae; Judy H Cho; Richard H Duerr; John D Rioux; Steven R Brant; Mark S Silverberg; Kent D Taylor; M Michael Barmuda; Alain Bitton; Themistocles Dassopoulos; Lisa Wu Datta; Todd Green; Anne M Griffiths; Emily O Kistner; Michael T Murtha; Miguel D Regueiro; Jerome I Rotter; L Philip Schumm; A Hillary Steinhart; Stephen R Targan; Ramnik J Xavier; Cécile Libioulle; Cynthia Sandor; Mark Lathrop; Jacques Belaiche; Olivier Dewit; Ivo Gut; Simon Heath; Debby Laukens; Myriam Mni; Paul Rutgeerts; André Van Gossum; Diana Zelenika; Denis Franchimont; J P Hugot; Martine de Vos; Severine Vermeire; Edouard Louis; Lon R Cardon; Carl A Anderson; Hazel Drummond; Elaine Nimmo; Tariq Ahmad; Natalie J Prescott; Clive M Onnie; Sheila A Fisher; Jonathan Marchini; Jilur Ghori; Suzannah Bumpstead; Rhian Gwillam; Mark Tremelling; Panos Delukas; John Mansfield; Derek Jewell; Jack Satsangi; Christopher G Mathew; Miles Parkes; Michel Georges; Mark J Daly; Melvin B Heyman; George D Ferry; Barbara Kirschner; Jessica Lee; Jonah Essers; Richard Grand; Michael Stephens; Arie Levine; David Piccoli; John Van Limbergen; Salvatore Cucchiara; Dimitri S Monos; Stephen L Guthery; Lee Denson; David C Wilson; Straun F A Grant; Mark Daly; Mark S Silverberg; Jack Satsangi; Hakon Hakonarson
Journal:  Nat Genet       Date:  2009-11-15       Impact factor: 38.330
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  5 in total

1.  Applying deep DNA sequencing to common, complex pediatric traits.

Authors:  John M Dagle; Jeffrey C Murray
Journal:  Pediatrics       Date:  2012-11-19       Impact factor: 7.124

Review 2.  Disclosure of incidental findings from next-generation sequencing in pediatric genomic research.

Authors:  Ruqayyah Abdul-Karim; Benjamin E Berkman; David Wendler; Annette Rid; Javed Khan; Tom Badgett; Sara Chandros Hull
Journal:  Pediatrics       Date:  2013-02-11       Impact factor: 7.124

3.  A Genomically Informed Education System? Challenges for Behavioral Genetics.

Authors:  Maya Sabatello
Journal:  J Law Med Ethics       Date:  2018-03-27       Impact factor: 1.718

4.  Metabolomic Analysis of the Effect of Postnatal Hypoxia on the Retina in a Newly Born Piglet Model.

Authors:  Rønnaug Solberg; Javier Escobar; Alessandro Arduini; Isabel Torres-Cuevas; Agustín Lahoz; Juan Sastre; Ola Didrik Saugstad; Máximo Vento; Julia Kuligowski; Guillermo Quintás
Journal:  PLoS One       Date:  2013-06-18       Impact factor: 3.240

Review 5.  Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts.

Authors:  John J Connolly; Joseph T Glessner; Berta Almoguera; David R Crosslin; Gail P Jarvik; Patrick M Sleiman; Hakon Hakonarson
Journal:  Front Genet       Date:  2014-03-18       Impact factor: 4.599
  5 in total

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