Literature DB >> 22200769

Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry.

Karen A Hunt, Deborah J Smyth, Tobias Balschun, Maria Ban, Vanisha Mistry, Tariq Ahmad, Vidya Anand, Jeffrey C Barrett, Leena Bhaw-Rosun, Nicholas A Bockett, Oliver J Brand, Elisabeth Brouwer, Patrick Concannon, Jason D Cooper, Kerith-Rae M Dias, Cleo C van Diemen, Patrick C Dubois, Sarah Edkins, Regina Fölster-Holst, Karin Fransen, David N Glass, Graham A R Heap, Sylvia Hofmann, Tom W J Huizinga, Sarah Hunt, Cordelia Langford, James Lee, John Mansfield, Maria Giovanna Marrosu, Christopher G Mathew, Charles A Mein, Joachim Müller-Quernheim, Sarah Nutland, Suna Onengut-Gumuscu, Willem Ouwehand, Kerra Pearce, Natalie J Prescott, Marcel D Posthumus, Simon Potter, Giulio Rosati, Jennifer Sambrook, Jack Satsangi, Stefan Schreiber, Corina Shtir, Matthew J Simmonds, Marc Sudman, Susan D Thompson, Rene Toes, Gosia Trynka, Timothy J Vyse, Neil M Walker, Stephan Weidinger, Alexandra Zhernakova, Magdalena Zoledziewska, Rinse K Weersma, Stephen C L Gough, Stephen Sawcer, Cisca Wijmenga, Miles Parkes, Francesco Cucca, Andre Franke, Panos Deloukas, Stephen S Rich, John A Todd, David A van Heel.   

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Year:  2011        PMID: 22200769      PMCID: PMC3287292          DOI: 10.1038/ng.1037

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


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  7 in total

1.  The future of genetic studies of complex human diseases.

Authors:  N Risch; K Merikangas
Journal:  Science       Date:  1996-09-13       Impact factor: 47.728

2.  A map of human genome variation from population-scale sequencing.

Authors:  Gonçalo R Abecasis; David Altshuler; Adam Auton; Lisa D Brooks; Richard M Durbin; Richard A Gibbs; Matt E Hurles; Gil A McVean
Journal:  Nature       Date:  2010-10-28       Impact factor: 49.962

3.  Functionally defective germline variants of sialic acid acetylesterase in autoimmunity.

Authors:  Ira Surolia; Stephan P Pirnie; Vasant Chellappa; Kendra N Taylor; Annaiah Cariappa; Jesse Moya; Haoyuan Liu; Daphne W Bell; David R Driscoll; Sven Diederichs; Khaleda Haider; Ilka Netravali; Sheila Le; Roberto Elia; Ethan Dow; Annette Lee; Jan Freudenberg; Philip L De Jager; Yves Chretien; Ajit Varki; Marcy E MacDonald; Tammy Gillis; Timothy W Behrens; Donald Bloch; Deborah Collier; Joshua Korzenik; Daniel K Podolsky; David Hafler; Mandakolathur Murali; Bruce Sands; John H Stone; Peter K Gregersen; Shiv Pillai
Journal:  Nature       Date:  2010-06-16       Impact factor: 49.962

4.  Tests for genetic interactions in type 1 diabetes: linkage and stratification analyses of 4,422 affected sib-pairs.

Authors:  Grant Morahan; Munish Mehta; Ian James; Wei-Min Chen; Beena Akolkar; Henry A Erlich; Joan E Hilner; Cécile Julier; Jørn Nerup; Concepcion Nierras; Flemming Pociot; John A Todd; Stephen S Rich
Journal:  Diabetes       Date:  2011-01-24       Impact factor: 9.461

5.  Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes.

Authors:  Sergey Nejentsev; Neil Walker; David Riches; Michael Egholm; John A Todd
Journal:  Science       Date:  2009-03-05       Impact factor: 47.728

6.  A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

Authors:  Patrick S Tarpey; Raffaella Smith; Erin Pleasance; Annabel Whibley; Sarah Edkins; Claire Hardy; Sarah O'Meara; Calli Latimer; Ed Dicks; Andrew Menzies; Phil Stephens; Matt Blow; Chris Greenman; Yali Xue; Chris Tyler-Smith; Deborah Thompson; Kristian Gray; Jenny Andrews; Syd Barthorpe; Gemma Buck; Jennifer Cole; Rebecca Dunmore; David Jones; Mark Maddison; Tatiana Mironenko; Rachel Turner; Kelly Turrell; Jennifer Varian; Sofie West; Sara Widaa; Paul Wray; Jon Teague; Adam Butler; Andrew Jenkinson; Mingming Jia; David Richardson; Rebecca Shepherd; Richard Wooster; M Isabel Tejada; Francisco Martinez; Gemma Carvill; Rene Goliath; Arjan P M de Brouwer; Hans van Bokhoven; Hilde Van Esch; Jamel Chelly; Martine Raynaud; Hans-Hilger Ropers; Fatima E Abidi; Anand K Srivastava; James Cox; Ying Luo; Uma Mallya; Jenny Moon; Josef Parnau; Shehla Mohammed; John L Tolmie; Cheryl Shoubridge; Mark Corbett; Alison Gardner; Eric Haan; Sinitdhorn Rujirabanjerd; Marie Shaw; Lucianne Vandeleur; Tod Fullston; Douglas F Easton; Jackie Boyle; Michael Partington; Anna Hackett; Michael Field; Cindy Skinner; Roger E Stevenson; Martin Bobrow; Gillian Turner; Charles E Schwartz; Jozef Gecz; F Lucy Raymond; P Andrew Futreal; Michael R Stratton
Journal:  Nat Genet       Date:  2009-04-19       Impact factor: 38.330

7.  Shared and distinct genetic variants in type 1 diabetes and celiac disease.

Authors:  Deborah J Smyth; Vincent Plagnol; Neil M Walker; Jason D Cooper; Kate Downes; Jennie H M Yang; Joanna M M Howson; Helen Stevens; Ross McManus; Cisca Wijmenga; Graham A Heap; Patrick C Dubois; David G Clayton; Karen A Hunt; David A van Heel; John A Todd
Journal:  N Engl J Med       Date:  2008-12-10       Impact factor: 91.245

  7 in total
  24 in total

Review 1.  Rethinking mechanisms of autoimmune pathogenesis.

Authors:  Shiv Pillai
Journal:  J Autoimmun       Date:  2013-06-25       Impact factor: 7.094

2.  A novel clinician interface to improve clinician access to up-to-date genetic results.

Authors:  Allison R Wilcox; Pamela M Neri; Lynn A Volk; Lisa P Newmark; Eugene H Clark; Lawrence J Babb; Matthew Varugheese; Samuel J Aronson; Heidi L Rehm; David W Bates
Journal:  J Am Med Inform Assoc       Date:  2013-09-07       Impact factor: 4.497

3.  Methods: Face up to false positives.

Authors:  Daniel Macarthur
Journal:  Nature       Date:  2012-07-25       Impact factor: 49.962

Review 4.  Autoimmune diseases - connecting risk alleles with molecular traits of the immune system.

Authors:  Maria Gutierrez-Arcelus; Stephen S Rich; Soumya Raychaudhuri
Journal:  Nat Rev Genet       Date:  2016-02-15       Impact factor: 53.242

Review 5.  Sialic acids and autoimmune disease.

Authors:  Vinay S Mahajan; Shiv Pillai
Journal:  Immunol Rev       Date:  2016-01       Impact factor: 12.988

6.  NR1H3 p.Arg415Gln Is Not Associated to Multiple Sclerosis Risk.

Authors: 
Journal:  Neuron       Date:  2016-10-19       Impact factor: 17.173

7.  Assessing the validity and reproducibility of genome-scale predictions.

Authors:  Lauren A Sugden; Michael R Tackett; Yiannis A Savva; William A Thompson; Charles E Lawrence
Journal:  Bioinformatics       Date:  2013-09-17       Impact factor: 6.937

Review 8.  Techniques and Approaches to Genetic Analyses in Nephrological Disorders.

Authors:  Laurel K Willig
Journal:  J Pediatr Genet       Date:  2015-08-13

Review 9.  Gene-function studies in systemic lupus erythematosus.

Authors:  José C Crispín; Christian M Hedrich; George C Tsokos
Journal:  Nat Rev Rheumatol       Date:  2013-06-04       Impact factor: 20.543

10.  A systematic approach to assessing the clinical significance of genetic variants.

Authors:  H Duzkale; J Shen; H McLaughlin; A Alfares; M A Kelly; T J Pugh; B H Funke; H L Rehm; M S Lebo
Journal:  Clin Genet       Date:  2013-11       Impact factor: 4.438

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