Literature DB >> 20664646

Variation across the allele frequency spectrum.

Anna L Gloyn, Mark I McCarthy.   

Abstract

Mesh:

Year:  2010        PMID: 20664646     DOI: 10.1038/ng0810-648

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


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  12 in total

Review 1.  Uncovering the roles of rare variants in common disease through whole-genome sequencing.

Authors:  Elizabeth T Cirulli; David B Goldstein
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2.  Sequence variations in PCSK9, low LDL, and protection against coronary heart disease.

Authors:  Jonathan C Cohen; Eric Boerwinkle; Thomas H Mosley; Helen H Hobbs
Journal:  N Engl J Med       Date:  2006-03-23       Impact factor: 91.245

3.  Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.

Authors:  Christopher T Johansen; Jian Wang; Matthew B Lanktree; Henian Cao; Adam D McIntyre; Matthew R Ban; Rebecca A Martins; Brooke A Kennedy; Reina G Hassell; Maartje E Visser; Stephen M Schwartz; Benjamin F Voight; Roberto Elosua; Veikko Salomaa; Christopher J O'Donnell; Geesje M Dallinga-Thie; Sonia S Anand; Salim Yusuf; Murray W Huff; Sekar Kathiresan; Robert A Hegele
Journal:  Nat Genet       Date:  2010-07-25       Impact factor: 38.330

4.  Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans.

Authors:  Stefano Romeo; Wu Yin; Julia Kozlitina; Len A Pennacchio; Eric Boerwinkle; Helen H Hobbs; Jonathan C Cohen
Journal:  J Clin Invest       Date:  2008-12-15       Impact factor: 14.808

5.  Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.

Authors:  Richa Saxena; Benjamin F Voight; Valeriya Lyssenko; Noël P Burtt; Paul I W de Bakker; Hong Chen; Jeffrey J Roix; Sekar Kathiresan; Joel N Hirschhorn; Mark J Daly; Thomas E Hughes; Leif Groop; David Altshuler; Peter Almgren; Jose C Florez; Joanne Meyer; Kristin Ardlie; Kristina Bengtsson Boström; Bo Isomaa; Guillaume Lettre; Ulf Lindblad; Helen N Lyon; Olle Melander; Christopher Newton-Cheh; Peter Nilsson; Marju Orho-Melander; Lennart Råstam; Elizabeth K Speliotes; Marja-Riitta Taskinen; Tiinamaija Tuomi; Candace Guiducci; Anna Berglund; Joyce Carlson; Lauren Gianniny; Rachel Hackett; Liselotte Hall; Johan Holmkvist; Esa Laurila; Marketa Sjögren; Maria Sterner; Aarti Surti; Margareta Svensson; Malin Svensson; Ryan Tewhey; Brendan Blumenstiel; Melissa Parkin; Matthew Defelice; Rachel Barry; Wendy Brodeur; Jody Camarata; Nancy Chia; Mary Fava; John Gibbons; Bob Handsaker; Claire Healy; Kieu Nguyen; Casey Gates; Carrie Sougnez; Diane Gage; Marcia Nizzari; Stacey B Gabriel; Gung-Wei Chirn; Qicheng Ma; Hemang Parikh; Delwood Richardson; Darrell Ricke; Shaun Purcell
Journal:  Science       Date:  2007-04-26       Impact factor: 47.728

Review 6.  Finding the missing heritability of complex diseases.

Authors:  Teri A Manolio; Francis S Collins; Nancy J Cox; David B Goldstein; Lucia A Hindorff; David J Hunter; Mark I McCarthy; Erin M Ramos; Lon R Cardon; Aravinda Chakravarti; Judy H Cho; Alan E Guttmacher; Augustine Kong; Leonid Kruglyak; Elaine Mardis; Charles N Rotimi; Montgomery Slatkin; David Valle; Alice S Whittemore; Michael Boehnke; Andrew G Clark; Evan E Eichler; Greg Gibson; Jonathan L Haines; Trudy F C Mackay; Steven A McCarroll; Peter M Visscher
Journal:  Nature       Date:  2009-10-08       Impact factor: 49.962

7.  Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations.

Authors:  Marju Orho-Melander; Olle Melander; Candace Guiducci; Pablo Perez-Martinez; Dolores Corella; Charlotta Roos; Ryan Tewhey; Mark J Rieder; Jennifer Hall; Goncalo Abecasis; E Shyong Tai; Cullan Welch; Donna K Arnett; Valeriya Lyssenko; Eero Lindholm; Richa Saxena; Paul I W de Bakker; Noel Burtt; Benjamin F Voight; Joel N Hirschhorn; Katherine L Tucker; Thomas Hedner; Tiinamaija Tuomi; Bo Isomaa; Karl-Fredrik Eriksson; Marja-Riitta Taskinen; Björn Wahlstrand; Thomas E Hughes; Laurence D Parnell; Chao-Qiang Lai; Göran Berglund; Leena Peltonen; Erkki Vartiainen; Pekka Jousilahti; Aki S Havulinna; Veikko Salomaa; Peter Nilsson; Leif Groop; David Altshuler; Jose M Ordovas; Sekar Kathiresan
Journal:  Diabetes       Date:  2008-08-04       Impact factor: 9.461

8.  The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver.

Authors:  Nicola L Beer; Nicholas D Tribble; Laura J McCulloch; Charlotta Roos; Paul R V Johnson; Marju Orho-Melander; Anna L Gloyn
Journal:  Hum Mol Genet       Date:  2009-07-30       Impact factor: 6.150

9.  Common variants at 30 loci contribute to polygenic dyslipidemia.

Authors:  Sekar Kathiresan; Cristen J Willer; Gina M Peloso; Serkalem Demissie; Kiran Musunuru; Eric E Schadt; Lee Kaplan; Derrick Bennett; Yun Li; Toshiko Tanaka; Benjamin F Voight; Lori L Bonnycastle; Anne U Jackson; Gabriel Crawford; Aarti Surti; Candace Guiducci; Noel P Burtt; Sarah Parish; Robert Clarke; Diana Zelenika; Kari A Kubalanza; Mario A Morken; Laura J Scott; Heather M Stringham; Pilar Galan; Amy J Swift; Johanna Kuusisto; Richard N Bergman; Jouko Sundvall; Markku Laakso; Luigi Ferrucci; Paul Scheet; Serena Sanna; Manuela Uda; Qiong Yang; Kathryn L Lunetta; Josée Dupuis; Paul I W de Bakker; Christopher J O'Donnell; John C Chambers; Jaspal S Kooner; Serge Hercberg; Pierre Meneton; Edward G Lakatta; Angelo Scuteri; David Schlessinger; Jaakko Tuomilehto; Francis S Collins; Leif Groop; David Altshuler; Rory Collins; G Mark Lathrop; Olle Melander; Veikko Salomaa; Leena Peltonen; Marju Orho-Melander; Jose M Ordovas; Michael Boehnke; Gonçalo R Abecasis; Karen L Mohlke; L Adrienne Cupples
Journal:  Nat Genet       Date:  2008-12-07       Impact factor: 38.330

10.  Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

Authors:  Yurii S Aulchenko; Samuli Ripatti; Ida Lindqvist; Dorret Boomsma; Iris M Heid; Peter P Pramstaller; Brenda W J H Penninx; A Cecile J W Janssens; James F Wilson; Tim Spector; Nicholas G Martin; Nancy L Pedersen; Kirsten Ohm Kyvik; Jaakko Kaprio; Albert Hofman; Nelson B Freimer; Marjo-Riitta Jarvelin; Ulf Gyllensten; Harry Campbell; Igor Rudan; Asa Johansson; Fabio Marroni; Caroline Hayward; Veronique Vitart; Inger Jonasson; Cristian Pattaro; Alan Wright; Nick Hastie; Irene Pichler; Andrew A Hicks; Mario Falchi; Gonneke Willemsen; Jouke-Jan Hottenga; Eco J C de Geus; Grant W Montgomery; John Whitfield; Patrik Magnusson; Juha Saharinen; Markus Perola; Kaisa Silander; Aaron Isaacs; Eric J G Sijbrands; Andre G Uitterlinden; Jacqueline C M Witteman; Ben A Oostra; Paul Elliott; Aimo Ruokonen; Chiara Sabatti; Christian Gieger; Thomas Meitinger; Florian Kronenberg; Angela Döring; H-Erich Wichmann; Johannes H Smit; Mark I McCarthy; Cornelia M van Duijn; Leena Peltonen
Journal:  Nat Genet       Date:  2008-12-07       Impact factor: 38.330

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  15 in total

Review 1.  Between candidate genes and whole genomes: time for alternative approaches in blood pressure genetics.

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Review 2.  Type 2 diabetes and obesity: genomics and the clinic.

Authors:  Mary E Travers; Mark I McCarthy
Journal:  Hum Genet       Date:  2011-06-07       Impact factor: 4.132

3.  Variants on chromosome 6p22.3 associated with blood pressure in the HyperGEN study: follow-up of FBPP quantitative trait loci.

Authors:  Jeannette Simino; Gang Shi; Donna Arnett; Ulrich Broeckel; Steven C Hunt; Dabeeru C Rao
Journal:  Am J Hypertens       Date:  2011-08-18       Impact factor: 2.689

4.  Linkage analysis incorporating gene-age interactions identifies seven novel lipid loci: the Family Blood Pressure Program.

Authors:  Jeannette Simino; Rezart Kume; Aldi T Kraja; Stephen T Turner; Craig L Hanis; Wayne Sheu; Ida Chen; Cashell Jaquish; Richard S Cooper; Aravinda Chakravarti; Thomas Quertermous; Eric Boerwinkle; Steven C Hunt; D C Rao
Journal:  Atherosclerosis       Date:  2014-04-26       Impact factor: 5.162

5.  Association of Exome Sequences With Cardiovascular Traits Among Blacks in the Jackson Heart Study.

Authors:  Gina M Peloso; Leslie A Lange; Tibor V Varga; Deborah A Nickerson; Joshua D Smith; Michael E Griswold; Solomon Musani; Linda M Polfus; Hao Mei; Stacey Gabriel; Rakale Collins Quarells; David Altshuler; Eric Boerwinkle; Mark J Daly; Benjamin Neale; Adolfo Correa; Alex P Reiner; James G Wilson; Sekar Kathiresan
Journal:  Circ Cardiovasc Genet       Date:  2016-07-15

Review 6.  Human genetic susceptibility to infectious disease.

Authors:  Stephen J Chapman; Adrian V S Hill
Journal:  Nat Rev Genet       Date:  2012-02-07       Impact factor: 53.242

7.  Polygenic risk scores in familial Alzheimer disease.

Authors:  Giuseppe Tosto; Thomas D Bird; Debby Tsuang; David A Bennett; Bradley F Boeve; Carlos Cruchaga; Kelley Faber; Tatiana M Foroud; Martin Farlow; Alison M Goate; Sarah Bertlesen; Neill R Graff-Radford; Martin Medrano; Rafael Lantigua; Jennifer Manly; Ruth Ottman; Roger Rosenberg; Daniel J Schaid; Nicole Schupf; Yaakov Stern; Robert A Sweet; Richard Mayeux
Journal:  Neurology       Date:  2017-02-17       Impact factor: 9.910

Review 8.  Challenges and Opportunities in Understanding Genetics of Fungal Diseases: Towards a Functional Genomics Approach.

Authors:  Mariolina Bruno; Vasiliki Matzaraki; Frank L van de Veerdonk; Vinod Kumar; Mihai G Netea
Journal:  Infect Immun       Date:  2021-07-15       Impact factor: 3.441

9.  Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.

Authors:  Judith Lechner; Louise F Porter; Aine Rice; Veronique Vitart; David J Armstrong; Daniel F Schorderet; Francis L Munier; Alan F Wright; Chris F Inglehearn; Graeme C Black; David A Simpson; Forbes Manson; Colin E Willoughby
Journal:  Hum Mol Genet       Date:  2014-06-03       Impact factor: 6.150

10.  The genetics of breast cancer: risk factors for disease.

Authors:  Andrew Collins; Ioannis Politopoulos
Journal:  Appl Clin Genet       Date:  2011-01-07
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