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Literature DB >> 22458452

Modifier genetics in neuropsychiatric disease: challenges and opportunities.

Elizabeth K Ruzzo¹, Andrea L Pappas, David B Goldstein.

Abstract

A new study focuses attention on multigenic interactions influencing the risk of autism spectrum disorders.

Entities: Disease

Mesh：

Year: 2012 PMID： 22458452 PMCID： PMC3439962 DOI： 10.1186/gb-2012-13-3-150

Source DB: PubMed Journal: Genome Biol ISSN： 1474-7596 Impact factor: 13.583

10 in total

Review 1. Mendelian disorders deserve more attention.

Authors: Stylianos E Antonarakis; Jacques S Beckmann
Journal: Nat Rev Genet Date: 2006-04 Impact factor: 53.242

2. Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes.

Authors: Erin L Heinzen; Rodney A Radtke; Thomas J Urban; Gianpiero L Cavalleri; Chantal Depondt; Anna C Need; Nicole M Walley; Paola Nicoletti; Dongliang Ge; Claudia B Catarino; John S Duncan; Dalia Kasperaviciūte; Sarah K Tate; Luis O Caboclo; Josemir W Sander; Lisa Clayton; Kristen N Linney; Kevin V Shianna; Curtis E Gumbs; Jason Smith; Kenneth D Cronin; Jessica M Maia; Colin P Doherty; Massimo Pandolfo; David Leppert; Lefkos T Middleton; Rachel A Gibson; Michael R Johnson; Paul M Matthews; David Hosford; Reetta Kälviäinen; Kai Eriksson; Anne-Mari Kantanen; Thomas Dorn; Jörg Hansen; Günter Krämer; Bernhard J Steinhoff; Heinz-Gregor Wieser; Dominik Zumsteg; Marcos Ortega; Nicholas W Wood; Julie Huxley-Jones; Mohamad Mikati; William B Gallentine; Aatif M Husain; Patrick G Buckley; Ray L Stallings; Mihai V Podgoreanu; Norman Delanty; Sanjay M Sisodiya; David B Goldstein
Journal: Am J Hum Genet Date: 2010-04-15 Impact factor: 11.025

3. Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3.

Authors: Xiaoming Wang; Portia A McCoy; Ramona M Rodriguiz; Yanzhen Pan; H Shawn Je; Adam C Roberts; Caroline J Kim; Janet Berrios; Jennifer S Colvin; Danielle Bousquet-Moore; Isabel Lorenzo; Gangyi Wu; Richard J Weinberg; Michael D Ehlers; Benjamin D Philpot; Arthur L Beaudet; William C Wetsel; Yong-Hui Jiang
Journal: Hum Mol Genet Date: 2011-05-10 Impact factor: 6.150

4. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.

Authors: Santhosh Girirajan; Jill A Rosenfeld; Gregory M Cooper; Francesca Antonacci; Priscillia Siswara; Andy Itsara; Laura Vives; Tom Walsh; Shane E McCarthy; Carl Baker; Heather C Mefford; Jeffrey M Kidd; Sharon R Browning; Brian L Browning; Diane E Dickel; Deborah L Levy; Blake C Ballif; Kathryn Platky; Darren M Farber; Gordon C Gowans; Jessica J Wetherbee; Alexander Asamoah; David D Weaver; Paul R Mark; Jennifer Dickerson; Bhuwan P Garg; Sara A Ellingwood; Rosemarie Smith; Valerie C Banks; Wendy Smith; Marie T McDonald; Joe J Hoo; Beatrice N French; Cindy Hudson; John P Johnson; Jillian R Ozmore; John B Moeschler; Urvashi Surti; Luis F Escobar; Dima El-Khechen; Jerome L Gorski; Jennifer Kussmann; Bonnie Salbert; Yves Lacassie; Alisha Biser; Donna M McDonald-McGinn; Elaine H Zackai; Matthew A Deardorff; Tamim H Shaikh; Eric Haan; Kathryn L Friend; Marco Fichera; Corrado Romano; Jozef Gécz; Lynn E DeLisi; Jonathan Sebat; Mary-Claire King; Lisa G Shaffer; Evan E Eichler
Journal: Nat Genet Date: 2010-02-14 Impact factor: 38.330

Review 5. Advances in autism genetics: on the threshold of a new neurobiology.

Authors: Brett S Abrahams; Daniel H Geschwind
Journal: Nat Rev Genet Date: 2008-05 Impact factor: 53.242

Review 6. Exploring genetic interactions and networks with yeast.

Authors: Charles Boone; Howard Bussey; Brenda J Andrews
Journal: Nat Rev Genet Date: 2007-06 Impact factor: 53.242

7. Functional impact of global rare copy number variation in autism spectrum disorders.

Authors: Dalila Pinto; Alistair T Pagnamenta; Lambertus Klei; Richard Anney; Daniele Merico; Regina Regan; Judith Conroy; Tiago R Magalhaes; Catarina Correia; Brett S Abrahams; Joana Almeida; Elena Bacchelli; Gary D Bader; Anthony J Bailey; Gillian Baird; Agatino Battaglia; Tom Berney; Nadia Bolshakova; Sven Bölte; Patrick F Bolton; Thomas Bourgeron; Sean Brennan; Jessica Brian; Susan E Bryson; Andrew R Carson; Guillermo Casallo; Jillian Casey; Brian H Y Chung; Lynne Cochrane; Christina Corsello; Emily L Crawford; Andrew Crossett; Cheryl Cytrynbaum; Geraldine Dawson; Maretha de Jonge; Richard Delorme; Irene Drmic; Eftichia Duketis; Frederico Duque; Annette Estes; Penny Farrar; Bridget A Fernandez; Susan E Folstein; Eric Fombonne; Christine M Freitag; John Gilbert; Christopher Gillberg; Joseph T Glessner; Jeremy Goldberg; Andrew Green; Jonathan Green; Stephen J Guter; Hakon Hakonarson; Elizabeth A Heron; Matthew Hill; Richard Holt; Jennifer L Howe; Gillian Hughes; Vanessa Hus; Roberta Igliozzi; Cecilia Kim; Sabine M Klauck; Alexander Kolevzon; Olena Korvatska; Vlad Kustanovich; Clara M Lajonchere; Janine A Lamb; Magdalena Laskawiec; Marion Leboyer; Ann Le Couteur; Bennett L Leventhal; Anath C Lionel; Xiao-Qing Liu; Catherine Lord; Linda Lotspeich; Sabata C Lund; Elena Maestrini; William Mahoney; Carine Mantoulan; Christian R Marshall; Helen McConachie; Christopher J McDougle; Jane McGrath; William M McMahon; Alison Merikangas; Ohsuke Migita; Nancy J Minshew; Ghazala K Mirza; Jeff Munson; Stanley F Nelson; Carolyn Noakes; Abdul Noor; Gudrun Nygren; Guiomar Oliveira; Katerina Papanikolaou; Jeremy R Parr; Barbara Parrini; Tara Paton; Andrew Pickles; Marion Pilorge; Joseph Piven; Chris P Ponting; David J Posey; Annemarie Poustka; Fritz Poustka; Aparna Prasad; Jiannis Ragoussis; Katy Renshaw; Jessica Rickaby; Wendy Roberts; Kathryn Roeder; Bernadette Roge; Michael L Rutter; Laura J Bierut; John P Rice; Jeff Salt; Katherine Sansom; Daisuke Sato; Ricardo Segurado; Ana F Sequeira; Lili Senman; Naisha Shah; Val C Sheffield; Latha Soorya; Inês Sousa; Olaf Stein; Nuala Sykes; Vera Stoppioni; Christina Strawbridge; Raffaella Tancredi; Katherine Tansey; Bhooma Thiruvahindrapduram; Ann P Thompson; Susanne Thomson; Ana Tryfon; John Tsiantis; Herman Van Engeland; John B Vincent; Fred Volkmar; Simon Wallace; Kai Wang; Zhouzhi Wang; Thomas H Wassink; Caleb Webber; Rosanna Weksberg; Kirsty Wing; Kerstin Wittemeyer; Shawn Wood; Jing Wu; Brian L Yaspan; Danielle Zurawiecki; Lonnie Zwaigenbaum; Joseph D Buxbaum; Rita M Cantor; Edwin H Cook; Hilary Coon; Michael L Cuccaro; Bernie Devlin; Sean Ennis; Louise Gallagher; Daniel H Geschwind; Michael Gill; Jonathan L Haines; Joachim Hallmayer; Judith Miller; Anthony P Monaco; John I Nurnberger; Andrew D Paterson; Margaret A Pericak-Vance; Gerard D Schellenberg; Peter Szatmari; Astrid M Vicente; Veronica J Vieland; Ellen M Wijsman; Stephen W Scherer; James S Sutcliffe; Catalina Betancur
Journal: Nature Date: 2010-06-09 Impact factor: 49.962

8. Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.

Authors: Claire S Leblond; Jutta Heinrich; Richard Delorme; Christian Proepper; Catalina Betancur; Guillaume Huguet; Marina Konyukh; Pauline Chaste; Elodie Ey; Maria Rastam; Henrik Anckarsäter; Gudrun Nygren; I Carina Gillberg; Jonas Melke; Roberto Toro; Beatrice Regnault; Fabien Fauchereau; Oriane Mercati; Nathalie Lemière; David Skuse; Martin Poot; Richard Holt; Anthony P Monaco; Irma Järvelä; Katri Kantojärvi; Raija Vanhala; Sarah Curran; David A Collier; Patrick Bolton; Andreas Chiocchetti; Sabine M Klauck; Fritz Poustka; Christine M Freitag; Regina Waltes; Marnie Kopp; Eftichia Duketis; Elena Bacchelli; Fiorella Minopoli; Liliana Ruta; Agatino Battaglia; Luigi Mazzone; Elena Maestrini; Ana F Sequeira; Barbara Oliveira; Astrid Vicente; Guiomar Oliveira; Dalila Pinto; Stephen W Scherer; Diana Zelenika; Marc Delepine; Mark Lathrop; Dominique Bonneau; Vincent Guinchat; Françoise Devillard; Brigitte Assouline; Marie-Christine Mouren; Marion Leboyer; Christopher Gillberg; Tobias M Boeckers; Thomas Bourgeron
Journal: PLoS Genet Date: 2012-02-09 Impact factor: 5.917

9. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

Authors: Heather C Mefford; Andrew J Sharp; Carl Baker; Andy Itsara; Zhaoshi Jiang; Karen Buysse; Shuwen Huang; Viv K Maloney; John A Crolla; Diana Baralle; Amanda Collins; Catherine Mercer; Koen Norga; Thomy de Ravel; Koen Devriendt; Ernie M H F Bongers; Nicole de Leeuw; William Reardon; Stefania Gimelli; Frederique Bena; Raoul C Hennekam; Alison Male; Lorraine Gaunt; Jill Clayton-Smith; Ingrid Simonic; Soo Mi Park; Sarju G Mehta; Serena Nik-Zainal; C Geoffrey Woods; Helen V Firth; Georgina Parkin; Marco Fichera; Santina Reitano; Mariangela Lo Giudice; Kelly E Li; Iris Casuga; Adam Broomer; Bernard Conrad; Markus Schwerzmann; Lorenz Räber; Sabina Gallati; Pasquale Striano; Antonietta Coppola; John L Tolmie; Edward S Tobias; Chris Lilley; Lluis Armengol; Yves Spysschaert; Patrick Verloo; Anja De Coene; Linde Goossens; Geert Mortier; Frank Speleman; Ellen van Binsbergen; Marcel R Nelen; Ron Hochstenbach; Martin Poot; Louise Gallagher; Michael Gill; Jon McClellan; Mary-Claire King; Regina Regan; Cindy Skinner; Roger E Stevenson; Stylianos E Antonarakis; Caifu Chen; Xavier Estivill; Björn Menten; Giorgio Gimelli; Susan Gribble; Stuart Schwartz; James S Sutcliffe; Tom Walsh; Samantha J L Knight; Jonathan Sebat; Corrado Romano; Charles E Schwartz; Joris A Veltman; Bert B A de Vries; Joris R Vermeesch; John C K Barber; Lionel Willatt; May Tassabehji; Evan E Eichler
Journal: N Engl J Med Date: 2008-09-10 Impact factor: 91.245

10. Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.

Authors: Cornelis A Albers; Dirk S Paul; Harald Schulze; Kathleen Freson; Jonathan C Stephens; Peter A Smethurst; Jennifer D Jolley; Ana Cvejic; Myrto Kostadima; Paul Bertone; Martijn H Breuning; Najet Debili; Panos Deloukas; Rémi Favier; Janine Fiedler; Catherine M Hobbs; Ni Huang; Matthew E Hurles; Graham Kiddle; Ingrid Krapels; Paquita Nurden; Claudia A L Ruivenkamp; Jennifer G Sambrook; Kenneth Smith; Derek L Stemple; Gabriele Strauss; Chantal Thys; Chris van Geet; Ruth Newbury-Ecob; Willem H Ouwehand; Cedric Ghevaert
Journal: Nat Genet Date: 2012-02-26 Impact factor: 38.330