James S Sutcliffe

James S Sutcliffe

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James S Sutcliffe

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The Drosophila Gene Modulates Autism-Like Behaviors.

Front Genet 2019 19;10:574. Epub 2019 Jun 19.

Department of Neurology, The University of Tennessee Health Science Center, Memphis, TN, United States.

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http://dx.doi.org/10.3389/fgene.2019.00574DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6611434PMC
June 2019

Maternal Serotonin Levels Are Associated With Cognitive Ability and Core Symptoms in Autism Spectrum Disorder.

J Am Acad Child Adolesc Psychiatry 2018 Nov 24;57(11):867-875. Epub 2018 Sep 24.

New York State Psychiatric Institute, New York, NY, and the Center for Autism and the Developing Brain, New York-Presbyterian Hospital, White Plains, NY. They are also with the Sackler Institute for Developmental Psychobiology; Columbia University Medical Center, New York, NY. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S08908567183177
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http://dx.doi.org/10.1016/j.jaac.2018.06.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6531860PMC
November 2018

Is there sexual dimorphism of hyperserotonemia in autism spectrum disorder?

Autism Res 2017 Aug 12;10(8):1417-1423. Epub 2017 Apr 12.

Department of Psychiatry, Columbia University Medical Center, New York.

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http://dx.doi.org/10.1002/aur.1791DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5568968PMC
August 2017

Shorter sleep duration is associated with social impairment and comorbidities in ASD.

Autism Res 2017 Jul 16;10(7):1221-1238. Epub 2017 Mar 16.

Department of Neurology, Sleep Disorders Division, Vanderbilt University Medical Center, Nashville, Tennessee.

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http://dx.doi.org/10.1002/aur.1765DOI Listing
July 2017

The impact of genotype calling errors on family-based studies.

Sci Rep 2016 06 22;6:28323. Epub 2016 Jun 22.

Division of Pulmonary Medicine, Allergy and Immunology; Department of Pediatrics, Children's Hospital of Pittsburgh of UPMC, University of Pittsburgh, Pittsburgh, PA 15224, USA.

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http://dx.doi.org/10.1038/srep28323DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4916415PMC
June 2016

Integrin β3 Haploinsufficiency Modulates Serotonin Transport and Antidepressant-Sensitive Behavior in Mice.

Neuropsychopharmacology 2015 Jul 16;40(8):2015-24. Epub 2015 Feb 16.

Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, TN, USA.

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http://www.nature.com/articles/npp201551
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http://dx.doi.org/10.1038/npp.2015.51DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4839525PMC
July 2015

A haplotype-based framework for group-wise transmission/disequilibrium tests for rare variant association analysis.

Bioinformatics 2015 May 6;31(9):1452-9. Epub 2015 Jan 6.

Department of Molecular Physiology and Biophysics, Vanderbilt University, TN, 37221, USA, Quantitative Biomedical Research Center, University of Texas Southwestern Medical Center, Dallas, TX, USA, Center for Quantitative Sciences, Vanderbilt University, TN, 37221, USA, Department of Medicine, University of Chicago, Chicago, IL, USA, Department of Psychiatry, University of Illinois at Chicago, Chicago, IL, USA, Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH, USA and Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1093/bioinformatics/btu860DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4410665PMC
May 2015

Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility.

Am J Med Genet A 2015 Apr 5;167A(4):715-23. Epub 2015 Feb 5.

Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36847DOI Listing
April 2015

Zn(2+) reverses functional deficits in a de novo dopamine transporter variant associated with autism spectrum disorder.

Mol Autism 2015 24;6. Epub 2015 Feb 24.

Department of Molecular Physiology and Biophysics, Vanderbilt University School of Medicine, Room 7124 MRB III, 465 21st Avenue S, Nashville, TN 37232 USA.

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http://www.molecularautism.com/content/6/1/8
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http://dx.doi.org/10.1186/s13229-015-0002-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4349303PMC
March 2015

Rare autism-associated variants implicate syntaxin 1 (STX1 R26Q) phosphorylation and the dopamine transporter (hDAT R51W) in dopamine neurotransmission and behaviors.

EBioMedicine 2015 Feb;2(2):135-146

Department of Molecular Physiology & Biophysics, Vanderbilt University School of Medicine, Nashville, TN 37232-8548, United States ; Vanderbilt Brain Institute, Vanderbilt University School of Medicine, Nashville, TN 37232-8548, United States ; Neuroscience Program in Substance Abuse, Vanderbilt University School of Medicine, Nashville, TN 37232-8548, United States ; Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, TN 37232-8548, United States.

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http://dx.doi.org/10.1016/j.ebiom.2015.01.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4353922PMC
February 2015

Consensus Genotyper for Exome Sequencing (CGES): improving the quality of exome variant genotypes.

Bioinformatics 2015 Jan 29;31(2):187-93. Epub 2014 Sep 29.

Department of Medicine, Section of Genetic Medicine, Computation Institute, University of Chicago, Chicago, IL 60637, Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, Tennessee 37232, USA, Vanderbilt Brain Institute, Vanderbilt University School of Medicine, Nashville, TN 37232 and Department of Psychiatry, University of Illinois at Chicago, Chicago, IL 60608, USA.

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http://dx.doi.org/10.1093/bioinformatics/btu591DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287941PMC
January 2015

Synaptic, transcriptional and chromatin genes disrupted in autism.

A framework for the interpretation of de novo mutation in human disease.

Nat Genet 2014 Sep 3;46(9):944-50. Epub 2014 Aug 3.

1] Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA. [2] Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [3] Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4222185PMC
September 2014

Pro32Pro33 mutations in the integrin β3 PSI domain result in αIIbβ3 priming and enhanced adhesion: reversal of the hypercoagulability phenotype by the Src inhibitor SKI-606.

Mol Pharmacol 2014 Jun 2;85(6):921-31. Epub 2014 Apr 2.

Departments of Pharmacology (K.H.O., T.J., C.Y.C., A.M.C.) and Psychiatry, Molecular Physiology, and Biophysics (E.L.C., J.S.S.), Vanderbilt University Medical Center, Nashville, Tennessee.

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http://dx.doi.org/10.1124/mol.114.091736DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014669PMC
June 2014

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.

Authors:
Dalila Pinto Elsa Delaby Daniele Merico Mafalda Barbosa Alison Merikangas Lambertus Klei Bhooma Thiruvahindrapuram Xiao Xu Robert Ziman Zhuozhi Wang Jacob A S Vorstman Ann Thompson Regina Regan Marion Pilorge Giovanna Pellecchia Alistair T Pagnamenta Bárbara Oliveira Christian R Marshall Tiago R Magalhaes Jennifer K Lowe Jennifer L Howe Anthony J Griswold John Gilbert Eftichia Duketis Beth A Dombroski Maretha V De Jonge Michael Cuccaro Emily L Crawford Catarina T Correia Judith Conroy Inês C Conceição Andreas G Chiocchetti Jillian P Casey Guiqing Cai Christelle Cabrol Nadia Bolshakova Elena Bacchelli Richard Anney Steven Gallinger Michelle Cotterchio Graham Casey Lonnie Zwaigenbaum Kerstin Wittemeyer Kirsty Wing Simon Wallace Herman van Engeland Ana Tryfon Susanne Thomson Latha Soorya Bernadette Rogé Wendy Roberts Fritz Poustka Susana Mouga Nancy Minshew L Alison McInnes Susan G McGrew Catherine Lord Marion Leboyer Ann S Le Couteur Alexander Kolevzon Patricia Jiménez González Suma Jacob Richard Holt Stephen Guter Jonathan Green Andrew Green Christopher Gillberg Bridget A Fernandez Frederico Duque Richard Delorme Geraldine Dawson Pauline Chaste Cátia Café Sean Brennan Thomas Bourgeron Patrick F Bolton Sven Bölte Raphael Bernier Gillian Baird Anthony J Bailey Evdokia Anagnostou Joana Almeida Ellen M Wijsman Veronica J Vieland Astrid M Vicente Gerard D Schellenberg Margaret Pericak-Vance Andrew D Paterson Jeremy R Parr Guiomar Oliveira John I Nurnberger Anthony P Monaco Elena Maestrini Sabine M Klauck Hakon Hakonarson Jonathan L Haines Daniel H Geschwind Christine M Freitag Susan E Folstein Sean Ennis Hilary Coon Agatino Battaglia Peter Szatmari James S Sutcliffe Joachim Hallmayer Michael Gill Edwin H Cook Joseph D Buxbaum Bernie Devlin Louise Gallagher Catalina Betancur Stephen W Scherer

Am J Hum Genet 2014 May 24;94(5):677-94. Epub 2014 Apr 24.

Program in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 1L7, Canada; McLaughlin Centre, University of Toronto, Toronto, ON M5S 1A1, Canada. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(14)00150-5.pdf
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https://hal.archives-ouvertes.fr/inserm-00986225/file/mmc1.p
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http://linkinghub.elsevier.com/retrieve/pii/S000292971400150
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http://dx.doi.org/10.1016/j.ajhg.2014.03.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4067558PMC
May 2014

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.

Authors:
S Hong Lee Stephan Ripke Benjamin M Neale Stephen V Faraone Shaun M Purcell Roy H Perlis Bryan J Mowry Anita Thapar Michael E Goddard John S Witte Devin Absher Ingrid Agartz Huda Akil Farooq Amin Ole A Andreassen Adebayo Anjorin Richard Anney Verneri Anttila Dan E Arking Philip Asherson Maria H Azevedo Lena Backlund Judith A Badner Anthony J Bailey Tobias Banaschewski Jack D Barchas Michael R Barnes Thomas B Barrett Nicholas Bass Agatino Battaglia Michael Bauer Mònica Bayés Frank Bellivier Sarah E Bergen Wade Berrettini Catalina Betancur Thomas Bettecken Joseph Biederman Elisabeth B Binder Donald W Black Douglas H R Blackwood Cinnamon S Bloss Michael Boehnke Dorret I Boomsma Gerome Breen René Breuer Richard Bruggeman Paul Cormican Nancy G Buccola Jan K Buitelaar William E Bunney Joseph D Buxbaum William F Byerley Enda M Byrne Sian Caesar Wiepke Cahn Rita M Cantor Miguel Casas Aravinda Chakravarti Kimberly Chambert Khalid Choudhury Sven Cichon C Robert Cloninger David A Collier Edwin H Cook Hilary Coon Bru Cormand Aiden Corvin William H Coryell David W Craig Ian W Craig Jennifer Crosbie Michael L Cuccaro David Curtis Darina Czamara Susmita Datta Geraldine Dawson Richard Day Eco J De Geus Franziska Degenhardt Srdjan Djurovic Gary J Donohoe Alysa E Doyle Jubao Duan Frank Dudbridge Eftichia Duketis Richard P Ebstein Howard J Edenberg Josephine Elia Sean Ennis Bruno Etain Ayman Fanous Anne E Farmer I Nicol Ferrier Matthew Flickinger Eric Fombonne Tatiana Foroud Josef Frank Barbara Franke Christine Fraser Robert Freedman Nelson B Freimer Christine M Freitag Marion Friedl Louise Frisén Louise Gallagher Pablo V Gejman Lyudmila Georgieva Elliot S Gershon Daniel H Geschwind Ina Giegling Michael Gill Scott D Gordon Katherine Gordon-Smith Elaine K Green Tiffany A Greenwood Dorothy E Grice Magdalena Gross Detelina Grozeva Weihua Guan Hugh Gurling Lieuwe De Haan Jonathan L Haines Hakon Hakonarson Joachim Hallmayer Steven P Hamilton Marian L Hamshere Thomas F Hansen Annette M Hartmann Martin Hautzinger Andrew C Heath Anjali K Henders Stefan Herms Ian B Hickie Maria Hipolito Susanne Hoefels Peter A Holmans Florian Holsboer Witte J Hoogendijk Jouke-Jan Hottenga Christina M Hultman Vanessa Hus Andrés Ingason Marcus Ising Stéphane Jamain Edward G Jones Ian Jones Lisa Jones Jung-Ying Tzeng Anna K Kähler René S Kahn Radhika Kandaswamy Matthew C Keller James L Kennedy Elaine Kenny Lindsey Kent Yunjung Kim George K Kirov Sabine M Klauck Lambertus Klei James A Knowles Martin A Kohli Daniel L Koller Bettina Konte Ania Korszun Lydia Krabbendam Robert Krasucki Jonna Kuntsi Phoenix Kwan Mikael Landén Niklas Långström Mark Lathrop Jacob Lawrence William B Lawson Marion Leboyer David H Ledbetter Phil H Lee Todd Lencz Klaus-Peter Lesch Douglas F Levinson Cathryn M Lewis Jun Li Paul Lichtenstein Jeffrey A Lieberman Dan-Yu Lin Don H Linszen Chunyu Liu Falk W Lohoff Sandra K Loo Catherine Lord Jennifer K Lowe Susanne Lucae Donald J MacIntyre Pamela A F Madden Elena Maestrini Patrik K E Magnusson Pamela B Mahon Wolfgang Maier Anil K Malhotra Shrikant M Mane Christa L Martin Nicholas G Martin Manuel Mattheisen Keith Matthews Morten Mattingsdal Steven A McCarroll Kevin A McGhee James J McGough Patrick J McGrath Peter McGuffin Melvin G McInnis Andrew McIntosh Rebecca McKinney Alan W McLean Francis J McMahon William M McMahon Andrew McQuillin Helena Medeiros Sarah E Medland Sandra Meier Ingrid Melle Fan Meng Jobst Meyer Christel M Middeldorp Lefkos Middleton Vihra Milanova Ana Miranda Anthony P Monaco Grant W Montgomery Jennifer L Moran Daniel Moreno-De-Luca Gunnar Morken Derek W Morris Eric M Morrow Valentina Moskvina Pierandrea Muglia Thomas W Mühleisen Walter J Muir Bertram Müller-Myhsok Michael Murtha Richard M Myers Inez Myin-Germeys Michael C Neale Stan F Nelson Caroline M Nievergelt Ivan Nikolov Vishwajit Nimgaonkar Willem A Nolen Markus M Nöthen John I Nurnberger Evaristus A Nwulia Dale R Nyholt Colm O'Dushlaine Robert D Oades Ann Olincy Guiomar Oliveira Line Olsen Roel A Ophoff Urban Osby Michael J Owen Aarno Palotie Jeremy R Parr Andrew D Paterson Carlos N Pato Michele T Pato Brenda W Penninx Michele L Pergadia Margaret A Pericak-Vance Benjamin S Pickard Jonathan Pimm Joseph Piven Danielle Posthuma James B Potash Fritz Poustka Peter Propping Vinay Puri Digby J Quested Emma M Quinn Josep Antoni Ramos-Quiroga Henrik B Rasmussen Soumya Raychaudhuri Karola Rehnström Andreas Reif Marta Ribasés John P Rice Marcella Rietschel Kathryn Roeder Herbert Roeyers Lizzy Rossin Aribert Rothenberger Guy Rouleau Douglas Ruderfer Dan Rujescu Alan R Sanders Stephan J Sanders Susan L Santangelo Joseph A Sergeant Russell Schachar Martin Schalling Alan F Schatzberg William A Scheftner Gerard D Schellenberg Stephen W Scherer Nicholas J Schork Thomas G Schulze Johannes Schumacher Markus Schwarz Edward Scolnick Laura J Scott Jianxin Shi Paul D Shilling Stanley I Shyn Jeremy M Silverman Susan L Slager Susan L Smalley Johannes H Smit Erin N Smith Edmund J S Sonuga-Barke David St Clair Matthew State Michael Steffens Hans-Christoph Steinhausen John S Strauss Jana Strohmaier T Scott Stroup James S Sutcliffe Peter Szatmari Szabocls Szelinger Srinivasa Thirumalai Robert C Thompson Alexandre A Todorov Federica Tozzi Jens Treutlein Manfred Uhr Edwin J C G van den Oord Gerard Van Grootheest Jim Van Os Astrid M Vicente Veronica J Vieland John B Vincent Peter M Visscher Christopher A Walsh Thomas H Wassink Stanley J Watson Myrna M Weissman Thomas Werge Thomas F Wienker Ellen M Wijsman Gonneke Willemsen Nigel Williams A Jeremy Willsey Stephanie H Witt Wei Xu Allan H Young Timothy W Yu Stanley Zammit Peter P Zandi Peng Zhang Frans G Zitman Sebastian Zöllner Bernie Devlin John R Kelsoe Pamela Sklar Mark J Daly Michael C O'Donovan Nicholas Craddock Patrick F Sullivan Jordan W Smoller Kenneth S Kendler Naomi R Wray

Nat Genet 2013 Sep 11;45(9):984-94. Epub 2013 Aug 11.

The University of Queensland, Queensland Brain Institute, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1038/ng.2711DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3800159PMC
September 2013

Rare coding variants of the adenosine A3 receptor are increased in autism: on the trail of the serotonin transporter regulome.

Mol Autism 2013 Aug 16;4(1):28. Epub 2013 Aug 16.

Department of Molecular Physiology & Biophysics and Vanderbilt Brain Institute, Vanderbilt University School of Medicine, Nashville, TN 37232-8548, USA.

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http://dx.doi.org/10.1186/2040-2392-4-28DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3882891PMC
August 2013

Individual common variants exert weak effects on the risk for autism spectrum disorders.

Authors:
Richard Anney Lambertus Klei Dalila Pinto Joana Almeida Elena Bacchelli Gillian Baird Nadia Bolshakova Sven Bölte Patrick F Bolton Thomas Bourgeron Sean Brennan Jessica Brian Jillian Casey Judith Conroy Catarina Correia Christina Corsello Emily L Crawford Maretha de Jonge Richard Delorme Eftichia Duketis Frederico Duque Annette Estes Penny Farrar Bridget A Fernandez Susan E Folstein Eric Fombonne John Gilbert Christopher Gillberg Joseph T Glessner Andrew Green Jonathan Green Stephen J Guter Elizabeth A Heron Richard Holt Jennifer L Howe Gillian Hughes Vanessa Hus Roberta Igliozzi Suma Jacob Graham P Kenny Cecilia Kim Alexander Kolevzon Vlad Kustanovich Clara M Lajonchere Janine A Lamb Miriam Law-Smith Marion Leboyer Ann Le Couteur Bennett L Leventhal Xiao-Qing Liu Frances Lombard Catherine Lord Linda Lotspeich Sabata C Lund Tiago R Magalhaes Carine Mantoulan Christopher J McDougle Nadine M Melhem Alison Merikangas Nancy J Minshew Ghazala K Mirza Jeff Munson Carolyn Noakes Gudrun Nygren Katerina Papanikolaou Alistair T Pagnamenta Barbara Parrini Tara Paton Andrew Pickles David J Posey Fritz Poustka Jiannis Ragoussis Regina Regan Wendy Roberts Kathryn Roeder Bernadette Roge Michael L Rutter Sabine Schlitt Naisha Shah Val C Sheffield Latha Soorya Inês Sousa Vera Stoppioni Nuala Sykes Raffaella Tancredi Ann P Thompson Susanne Thomson Ana Tryfon John Tsiantis Herman Van Engeland John B Vincent Fred Volkmar J A S Vorstman Simon Wallace Kirsty Wing Kerstin Wittemeyer Shawn Wood Danielle Zurawiecki Lonnie Zwaigenbaum Anthony J Bailey Agatino Battaglia Rita M Cantor Hilary Coon Michael L Cuccaro Geraldine Dawson Sean Ennis Christine M Freitag Daniel H Geschwind Jonathan L Haines Sabine M Klauck William M McMahon Elena Maestrini Judith Miller Anthony P Monaco Stanley F Nelson John I Nurnberger Guiomar Oliveira Jeremy R Parr Margaret A Pericak-Vance Joseph Piven Gerard D Schellenberg Stephen W Scherer Astrid M Vicente Thomas H Wassink Ellen M Wijsman Catalina Betancur Joseph D Buxbaum Edwin H Cook Louise Gallagher Michael Gill Joachim Hallmayer Andrew D Paterson James S Sutcliffe Peter Szatmari Veronica J Vieland Hakon Hakonarson Bernie Devlin

Hum Mol Genet 2012 Nov 26;21(21):4781-92. Epub 2012 Jul 26.

Autism Genetics Group, Department of Psychiatry, School of Medicine, Trinity College, Dublin 8, Ireland.

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http://dx.doi.org/10.1093/hmg/dds301DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3471395PMC
November 2012

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.

Authors:
Jillian P Casey Tiago Magalhaes Judith M Conroy Regina Regan Naisha Shah Richard Anney Denis C Shields Brett S Abrahams Joana Almeida Elena Bacchelli Anthony J Bailey Gillian Baird Agatino Battaglia Tom Berney Nadia Bolshakova Patrick F Bolton Thomas Bourgeron Sean Brennan Phil Cali Catarina Correia Christina Corsello Marc Coutanche Geraldine Dawson Maretha de Jonge Richard Delorme Eftichia Duketis Frederico Duque Annette Estes Penny Farrar Bridget A Fernandez Susan E Folstein Suzanne Foley Eric Fombonne Christine M Freitag John Gilbert Christopher Gillberg Joseph T Glessner Jonathan Green Stephen J Guter Hakon Hakonarson Richard Holt Gillian Hughes Vanessa Hus Roberta Igliozzi Cecilia Kim Sabine M Klauck Alexander Kolevzon Janine A Lamb Marion Leboyer Ann Le Couteur Bennett L Leventhal Catherine Lord Sabata C Lund Elena Maestrini Carine Mantoulan Christian R Marshall Helen McConachie Christopher J McDougle Jane McGrath William M McMahon Alison Merikangas Judith Miller Fiorella Minopoli Ghazala K Mirza Jeff Munson Stanley F Nelson Gudrun Nygren Guiomar Oliveira Alistair T Pagnamenta Katerina Papanikolaou Jeremy R Parr Barbara Parrini Andrew Pickles Dalila Pinto Joseph Piven David J Posey Annemarie Poustka Fritz Poustka Jiannis Ragoussis Bernadette Roge Michael L Rutter Ana F Sequeira Latha Soorya Inês Sousa Nuala Sykes Vera Stoppioni Raffaella Tancredi Maïté Tauber Ann P Thompson Susanne Thomson John Tsiantis Herman Van Engeland John B Vincent Fred Volkmar Jacob A S Vorstman Simon Wallace Kai Wang Thomas H Wassink Kathy White Kirsty Wing Kerstin Wittemeyer Brian L Yaspan Lonnie Zwaigenbaum Catalina Betancur Joseph D Buxbaum Rita M Cantor Edwin H Cook Hilary Coon Michael L Cuccaro Daniel H Geschwind Jonathan L Haines Joachim Hallmayer Anthony P Monaco John I Nurnberger Margaret A Pericak-Vance Gerard D Schellenberg Stephen W Scherer James S Sutcliffe Peter Szatmari Veronica J Vieland Ellen M Wijsman Andrew Green Michael Gill Louise Gallagher Astrid Vicente Sean Ennis

Hum Genet 2012 Apr 14;131(4):565-79. Epub 2011 Oct 14.

School of Medicine and Medical Science University College, Dublin, Ireland.

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http://researchrepository.ucd.ie/bitstream/handle/10197/6163
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http://link.springer.com/10.1007/s00439-011-1094-6
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http://dx.doi.org/10.1007/s00439-011-1094-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3303079PMC
April 2012

Accuracy of phenotyping children with autism based on parent report: what specifically do we gain phenotyping "rapidly"?

Autism Res 2012 Feb 3;5(1):31-8. Epub 2011 Oct 3.

Department of Pediatrics, Vanderbilt University, Nashville, Tennessee, USA.

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http://dx.doi.org/10.1002/aur.230DOI Listing
February 2012

Colocalization and regulated physical association of presynaptic serotonin transporters with A₃ adenosine receptors.

Mol Pharmacol 2011 Sep 24;80(3):458-65. Epub 2011 Jun 24.

Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.

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http://dx.doi.org/10.1124/mol.111.071399DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3164334PMC
September 2011

Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism.

J Neurodev Disord 2011 Jun 19;3(2):113-23. Epub 2011 Jan 19.

Battelle Center for Mathematical Medicine, The Research Institute at Nationwide Children's Hospital and The Ohio State University, Columbus, OH, 43205, USA,

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http://dx.doi.org/10.1007/s11689-011-9072-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3105232PMC
June 2011

Association of oxytocin receptor (OXTR) gene variants with multiple phenotype domains of autism spectrum disorder.

J Neurodev Disord 2011 Jun 6;3(2):101-12. Epub 2011 Jan 6.

Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, 90089, USA,

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http://dx.doi.org/10.1007/s11689-010-9071-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3113442PMC
June 2011

Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.

Neuron 2011 Jun;70(5):863-85

Program on Neurogenetics, Yale University School of Medicine, 230 South Frontage Road, New Haven, CT 06520, USA.

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http://dx.doi.org/10.1016/j.neuron.2011.05.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3939065PMC
June 2011

Genetic analysis of biological pathway data through genomic randomization.

Hum Genet 2011 May 30;129(5):563-71. Epub 2011 Jan 30.

Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN 37232, USA.

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http://dx.doi.org/10.1007/s00439-011-0956-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3107984PMC
May 2011

Parent-of-origin effects of the serotonin transporter gene associated with autism.

Am J Med Genet B Neuropsychiatr Genet 2011 Mar 8;156(2):139-44. Epub 2010 Dec 8.

Division of Biostatistics and Epidemiology, Department of Medicine, Medical University of South Carolina, 86 Jonathon Lucas St., Charleston, SC 29425, USA.

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http://doi.wiley.com/10.1002/ajmg.b.31146
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http://dx.doi.org/10.1002/ajmg.b.31146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3438509PMC
March 2011

A genome-wide scan for common alleles affecting risk for autism.

Authors:
Richard Anney Lambertus Klei Dalila Pinto Regina Regan Judith Conroy Tiago R Magalhaes Catarina Correia Brett S Abrahams Nuala Sykes Alistair T Pagnamenta Joana Almeida Elena Bacchelli Anthony J Bailey Gillian Baird Agatino Battaglia Tom Berney Nadia Bolshakova Sven Bölte Patrick F Bolton Thomas Bourgeron Sean Brennan Jessica Brian Andrew R Carson Guillermo Casallo Jillian Casey Su H Chu Lynne Cochrane Christina Corsello Emily L Crawford Andrew Crossett 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 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 Nadine M Melhem 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 Joseph Piven 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 Lili Senman Naisha Shah Val C Sheffield Latha Soorya Inês Sousa 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 Kirsty Wing Kerstin Wittemeyer Shawn Wood Brian L Yaspan Danielle Zurawiecki Lonnie Zwaigenbaum Catalina Betancur Joseph D Buxbaum Rita M Cantor Edwin H Cook Hilary Coon Michael L Cuccaro Louise Gallagher Daniel H Geschwind Michael Gill Jonathan L Haines Judith Miller Anthony P Monaco John I Nurnberger Andrew D Paterson Margaret A Pericak-Vance Gerard D Schellenberg Stephen W Scherer James S Sutcliffe Peter Szatmari Astrid M Vicente Veronica J Vieland Ellen M Wijsman Bernie Devlin Sean Ennis Joachim Hallmayer

Hum Mol Genet 2010 Oct 27;19(20):4072-82. Epub 2010 Jul 27.

Department of Psychiatry, School of Medicine, Trinity College, Dublin 8, Ireland.

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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddq307
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2947401PMC
October 2010

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

Nature 2010 Jul 9;466(7304):368-72. Epub 2010 Jun 9.

The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada.

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July 2010

Association of MET with social and communication phenotypes in individuals with autism spectrum disorder.

Am J Med Genet B Neuropsychiatr Genet 2010 Mar;153B(2):438-446

Department of Pharmacology, Vanderbilt University, Nashville, Tennessee.

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http://dx.doi.org/10.1002/ajmg.b.30998DOI Listing
March 2010

Fine mapping and association studies in a candidate region for autism on chromosome 2q31-q32.

Am J Med Genet B Neuropsychiatr Genet 2009 Jun;150B(4):535-44

Neuropsychiatric Genetics Research Group, Trinity Centre for Health Sciences, Trinity College Dublin, Dublin, Ireland.

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http://dx.doi.org/10.1002/ajmg.b.30854DOI Listing
June 2009

Distinct genetic risk based on association of MET in families with co-occurring autism and gastrointestinal conditions.

Pediatrics 2009 Mar;123(3):1018-24

Vanderbilt University, 8114 MRB3, 465 21st Ave South, Nashville, TN 37232, USA.

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http://dx.doi.org/10.1542/peds.2008-0819DOI Listing
March 2009

Enhanced activity of human serotonin transporter variants associated with autism.

Philos Trans R Soc Lond B Biol Sci 2009 Jan;364(1514):163-73

Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, TN 37232-8548, USA.

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http://dx.doi.org/10.1098/rstb.2008.0143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2674096PMC
January 2009

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

N Engl J Med 2008 Oct 10;359(16):1685-99. Epub 2008 Sep 10.

University of Washington School of Medicine, Seattle 98195, USA.

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http://dx.doi.org/10.1056/NEJMoa0805384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2703742PMC
October 2008

Heterogeneity and the design of genetic studies in autism.

Autism Res 2008 Aug;1(4):205-6

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http://dx.doi.org/10.1002/aur.37DOI Listing
August 2008

Genetics. Insights into the pathogenesis of autism.

Science 2008 Jul;321(5886):208-9

Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, TN 37232-8548, USA.

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http://dx.doi.org/10.1126/science.1160555DOI Listing
July 2008

Genetic evidence implicating multiple genes in the MET receptor tyrosine kinase pathway in autism spectrum disorder.

Autism Res 2008 Jun;1(3):159-68

Department of Pharmacology, Vanderbilt University, Nashville, Tennessee 37232, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2678909PMC
June 2008

Affiliative behaviors and beyond: it's the phenotype, stupid.

Biol Psychiatry 2008 May;63(10):909-10

Center for Molecular Neuroscience and Vanderbilt Kennedy Center, Vanderbilt University, Nashville, Tennessee 37232, USA.

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http://dx.doi.org/10.1016/j.biopsych.2008.03.027DOI Listing
May 2008

Our vision for Autism Research.

Autism Res 2008 Apr;1(2):71-2

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http://dx.doi.org/10.1002/aur.18DOI Listing
April 2008

Contribution of SHANK3 mutations to autism spectrum disorder.

Am J Hum Genet 2007 Dec 16;81(6):1289-97. Epub 2007 Oct 16.

The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, M5G 1L7, Canada.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2276348PMC
December 2007

Mapping autism risk loci using genetic linkage and chromosomal rearrangements.

Authors:
Peter Szatmari Andrew D Paterson Lonnie Zwaigenbaum Wendy Roberts Jessica Brian Xiao-Qing Liu John B Vincent Jennifer L Skaug Ann P Thompson Lili Senman Lars Feuk Cheng Qian Susan E Bryson Marshall B Jones Christian R Marshall Stephen W Scherer Veronica J Vieland Christopher Bartlett La Vonne Mangin Rhinda Goedken Alberto Segre Margaret A Pericak-Vance Michael L Cuccaro John R Gilbert Harry H Wright Ruth K Abramson Catalina Betancur Thomas Bourgeron Christopher Gillberg Marion Leboyer Joseph D Buxbaum Kenneth L Davis Eric Hollander Jeremy M Silverman Joachim Hallmayer Linda Lotspeich James S Sutcliffe Jonathan L Haines Susan E Folstein Joseph Piven Thomas H Wassink Val Sheffield Daniel H Geschwind Maja Bucan W Ted Brown Rita M Cantor John N Constantino T Conrad Gilliam Martha Herbert Clara Lajonchere David H Ledbetter Christa Lese-Martin Janet Miller Stan Nelson Carol A Samango-Sprouse Sarah Spence Matthew State Rudolph E Tanzi Hilary Coon Geraldine Dawson Bernie Devlin Annette Estes Pamela Flodman Lambertus Klei William M McMahon Nancy Minshew Jeff Munson Elena Korvatska Patricia M Rodier Gerard D Schellenberg Moyra Smith M Anne Spence Chris Stodgell Ping Guo Tepper Ellen M Wijsman Chang-En Yu Bernadette Rogé Carine Mantoulan Kerstin Wittemeyer Annemarie Poustka Bärbel Felder Sabine M Klauck Claudia Schuster Fritz Poustka Sven Bölte Sabine Feineis-Matthews Evelyn Herbrecht Gabi Schmötzer John Tsiantis Katerina Papanikolaou Elena Maestrini Elena Bacchelli Francesca Blasi Simona Carone Claudio Toma Herman Van Engeland Maretha de Jonge Chantal Kemner Frederieke Koop Frederike Koop Marjolein Langemeijer Marjolijn Langemeijer Channa Hijmans Channa Hijimans Wouter G Staal Gillian Baird Patrick F Bolton Michael L Rutter Emma Weisblatt Jonathan Green Catherine Aldred Julie-Anne Wilkinson Andrew Pickles Ann Le Couteur Tom Berney Helen McConachie Anthony J Bailey Kostas Francis Gemma Honeyman Aislinn Hutchinson Jeremy R Parr Simon Wallace Anthony P Monaco Gabrielle Barnby Kazuhiro Kobayashi Janine A Lamb Ines Sousa Nuala Sykes Edwin H Cook Stephen J Guter Bennett L Leventhal Jeff Salt Catherine Lord Christina Corsello Vanessa Hus Daniel E Weeks Fred Volkmar Maïté Tauber Eric Fombonne Andy Shih Kacie J Meyer

Nat Genet 2007 Mar 18;39(3):319-28. Epub 2007 Feb 18.

Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Ontario L8N 3Z5, Canada.

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March 2007

A genetic variant that disrupts MET transcription is associated with autism.

Proc Natl Acad Sci U S A 2006 Nov 19;103(45):16834-9. Epub 2006 Oct 19.

Department of Pharmacology, Vanderbilt Kennedy Center for Research on Human Development, Vanderbilt University, Nashville, TN 37203, USA.

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November 2006

Variation in ITGB3 is associated with whole-blood serotonin level and autism susceptibility.

Eur J Hum Genet 2006 Aug 17;14(8):923-31. Epub 2006 May 17.

Department of Human Genetics, The University of Chicago, Chicago, IL, USA.

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http://dx.doi.org/10.1038/sj.ejhg.5201644DOI Listing
August 2006

Lack of association between autism and SLC25A12.

Am J Psychiatry 2006 May;163(5):929-31

Center for Human Genetics, Department of Medicine, Duke University Medical Center, 595 LaSalle St., Durham, NC 27710, USA.

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http://dx.doi.org/10.1176/ajp.2006.163.5.929DOI Listing
May 2006

Mutations in GABRA1, GABRA5, GABRG2 and GABRD receptor genes are not a major factor in the pathogenesis of familial focal epilepsy preceded by febrile seizures.

Neurosci Lett 2006 Feb 25;394(1):74-8. Epub 2005 Oct 25.

Department of Neurology, Vanderbilt University, Nashville, TN 37232-8552, USA.

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http://dx.doi.org/10.1016/j.neulet.2005.10.006DOI Listing
February 2006

Allelic heterogeneity at the serotonin transporter locus (SLC6A4) confers susceptibility to autism and rigid-compulsive behaviors.

Am J Hum Genet 2005 Aug 1;77(2):265-79. Epub 2005 Jul 1.

Center for Molecular Neuroscience, Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, TN 37232-0615, USA.

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http://dx.doi.org/10.1086/432648DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1224529PMC
August 2005

Autism and 15q11-q13 disorders: behavioral, genetic, and pathophysiological issues.

Ment Retard Dev Disabil Res Rev 2004 ;10(4):284-91

Department of Psychology and Human Development, Vanderbilt Kennedy Center for Research on Human Development, 230 Appleton Place, Peabody Box 40, Nashville, TN 37203, USA.

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April 2005

The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures.

BMC Med Genet 2005 Mar 30;6:13. Epub 2005 Mar 30.

Department of Neurology, Vanderbilt University, 465 21st Avenue South, 6140 MRB III, Nashville, TN 37232-8552, USA.

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http://dx.doi.org/10.1186/1471-2350-6-13DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1079842PMC
March 2005

Analysis of the autism chromosome 2 linkage region: GAD1 and other candidate genes.

Neurosci Lett 2004 Dec;372(3):209-14

Department of Medicine, Center for Human Genetics, 595 LaSalle St., Box 3445, Duke University Medical Center, Durham, NC 27710, USA.

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December 2004

A linkage disequilibrium map of the 1-Mb 15q12 GABA(A) receptor subunit cluster and association to autism.

Am J Med Genet B Neuropsychiatr Genet 2004 Nov;131B(1):51-9

Department of Molecular Physiology and Biophysics, Center for Human Genetics Research, Nashville, TN 37232, USA.

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http://dx.doi.org/10.1002/ajmg.b.30038DOI Listing
November 2004

Examination of NRCAM, LRRN3, KIAA0716, and LAMB1 as autism candidate genes.

BMC Med Genet 2004 May 5;5:12. Epub 2004 May 5.

Center for Human Genetics Research and Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, TN 37027, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC420465PMC
May 2004

Autosomal dominant lateral temporal epilepsy: two families with novel mutations in the LGI1 gene.

Epilepsia 2004 Mar;45(3):218-22

Department of Neurology, Program in Human Genetics, Vanderbilt University, Nashville, Tennessee 37232-8552, USA.

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http://dx.doi.org/10.1111/j.0013-9580.2004.47203.xDOI Listing
March 2004

Exploratory subsetting of autism families based on savant skills improves evidence of genetic linkage to 15q11-q13.

J Am Acad Child Adolesc Psychiatry 2003 Jul;42(7):856-63

Medical Scientist Training Program, Vanderbilt University, Nashville, TN 37232-0615, USA.

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http://dx.doi.org/10.1097/01.CHI.0000046868.56865.0FDOI Listing
July 2003

Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structures.

BMC Genomics 2003 Apr 29;4(1):15. Epub 2003 Apr 29.

Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, TN, USA.

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http://dx.doi.org/10.1186/1471-2164-4-15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC156605PMC
April 2003

Genetics of childhood disorders: XLVII. Autism, part 6: duplication and inherited susceptibility of chromosome 15q11-q13 genes in autism.

J Am Acad Child Adolesc Psychiatry 2003 Feb;42(2):253-6

Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, TN, USA.

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http://dx.doi.org/10.1097/00004583-200302000-00021DOI Listing
February 2003