Stephan Sanders

Stephan Sanders

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Next-Generation Sequencing in Autism Spectrum Disorder.

Cold Spring Harb Perspect Med 2019 Aug 1;9(8). Epub 2019 Aug 1.

Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, California 94158.

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http://dx.doi.org/10.1101/cshperspect.a026872DOI Listing
August 2019

The Autism-Associated Gene Scn2a Contributes to Dendritic Excitability and Synaptic Function in the Prefrontal Cortex.

Neuron 2019 08 20;103(4):673-685.e5. Epub 2019 Jun 20.

Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2019.05.037DOI Listing
August 2019

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:
Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 Mar 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407527PMC
March 2019

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Am J Hum Genet 2018 05 12;102(5):744-759. Epub 2018 Apr 12.

Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.02.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986661PMC
May 2018

Children with autism spectrum disorder who improve with fever: Insights from the Simons Simplex Collection.

Autism Res 2018 01 31;11(1):175-184. Epub 2017 Aug 31.

School of Medicine, University of California, San Francisco, 401 Parnassus Avenue, San Francisco, CA, 94143 (S.J.S., D.W., V.H.B.).

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http://dx.doi.org/10.1002/aur.1856DOI Listing
January 2018

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Authors:
Sébastien Küry Geeske M van Woerden Thomas Besnard Martina Proietti Onori Xénia Latypova Meghan C Towne Megan T Cho Trine E Prescott Melissa A Ploeg Stephan Sanders Holly A F Stessman Aurora Pujol Ben Distel Laurie A Robak Jonathan A Bernstein Anne-Sophie Denommé-Pichon Gaëtan Lesca Elizabeth A Sellars Jonathan Berg Wilfrid Carré Øyvind Løvold Busk Bregje W M van Bon Jeff L Waugh Matthew Deardorff George E Hoganson Katherine B Bosanko Diana S Johnson Tabib Dabir Øystein Lunde Holla Ajoy Sarkar Kristian Tveten Julitta de Bellescize Geir J Braathen Paulien A Terhal Dorothy K Grange Arie van Haeringen Christina Lam Ghayda Mirzaa Jennifer Burton Elizabeth J Bhoj Jessica Douglas Avni B Santani Addie I Nesbitt Katherine L Helbig Marisa V Andrews Amber Begtrup Sha Tang Koen L I van Gassen Jane Juusola Kimberly Foss Gregory M Enns Ute Moog Katrin Hinderhofer Nagarajan Paramasivam Sharyn Lincoln Brandon H Kusako Pierre Lindenbaum Eric Charpentier Catherine B Nowak Elouan Cherot Thomas Simonet Claudia A L Ruivenkamp Sihoun Hahn Catherine A Brownstein Fan Xia Sébastien Schmitt Wallid Deb Dominique Bonneau Mathilde Nizon Delphine Quinquis Jamel Chelly Gabrielle Rudolf Damien Sanlaville Philippe Parent Brigitte Gilbert-Dussardier Annick Toutain Vernon R Sutton Jenny Thies Lisenka E L M Peart-Vissers Pierre Boisseau Marie Vincent Andreas M Grabrucker Christèle Dubourg Wen-Hann Tan Nienke E Verbeek Martin Granzow Gijs W E Santen Jay Shendure Bertrand Isidor Laurent Pasquier Richard Redon Yaping Yang Matthew W State Tjitske Kleefstra Benjamin Cogné Slavé Petrovski Kyle Retterer Evan E Eichler Jill A Rosenfeld Pankaj B Agrawal Stéphane Bézieau Sylvie Odent Ype Elgersma Sandra Mercier

Am J Hum Genet 2017 Nov;101(5):768-788

CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.

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http://dx.doi.org/10.1016/j.ajhg.2017.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673671PMC
November 2017

Opposing Effects on Na1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures.

Biol Psychiatry 2017 08 27;82(3):224-232. Epub 2017 Jan 27.

Center for Integrative Neuroscience, Kavli Institute for Fundamental Neuroscience, Department of Neurology, San Francisco, San Francisco; UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco; Department of Chemistry, University of Puerto Rico, Río Piedras Campus, San Juan, Puerto Rico. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2017.01.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5796785PMC
August 2017

Appreciating the Population-wide Impact of Copy Number Variants on Cognition.

Biol Psychiatry 2017 07;82(2):78-80

Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, California. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2017.05.010DOI Listing
July 2017

Identification of Developmental and Behavioral Markers Associated With Genetic Abnormalities in Autism Spectrum Disorder.

Am J Psychiatry 2017 06 3;174(6):576-585. Epub 2017 Mar 3.

From the Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco; the Pediatrics and Developmental Neuroscience Branch, NIMH, Bethesda, Md.; the Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston; the Stanley Center for Psychiatric Research and the Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Mass.; and the MRC Integrative Epidemiology Unit at the University of Bristol, School of Social and Community Medicine, Bristol, U.K.

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http://dx.doi.org/10.1176/appi.ajp.2017.16101115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5578709PMC
June 2017

Peabody Picture Vocabulary Test: Proxy for Verbal IQ in Genetic Studies of Autism Spectrum Disorder.

J Autism Dev Disord 2017 Apr;47(4):1073-1085

University of California San Francisco Department of Psychiatry, 1550 4th St, San Francisco, CA, 94158, USA.

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http://dx.doi.org/10.1007/s10803-017-3030-7DOI Listing
April 2017

Intergenerational Neuroimaging of Human Brain Circuitry.

Trends Neurosci 2016 10 9;39(10):644-648. Epub 2016 Sep 9.

Department of Psychiatry, University of California, San Francisco, San Francisco, CA, USA; Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5067069PMC
http://dx.doi.org/10.1016/j.tins.2016.08.003DOI Listing
October 2016

Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.

Am J Hum Genet 2016 09 25;99(3):540-554. Epub 2016 Aug 25.

Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Center for Autism Research and Treatment and Program in Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, CA 90095, USA; Department of Human Genetics, University of California, Los Angeles, Los Angeles, CA 90095, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.06.036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011063PMC
September 2016

Frequency and Complexity of De Novo Structural Mutation in Autism.

Am J Hum Genet 2016 Apr 24;98(4):667-79. Epub 2016 Mar 24.

Beyster Center for Genomics of Psychiatric Diseases, University of California, San Diego, La Jolla, CA 92093, USA; Department of Psychiatry, University of California, San Diego, La Jolla, CA 92093, USA; Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA 92093, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.02.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4833290PMC
April 2016

Attention Finally Being Paid to Girls at Risk of Autism.

J Am Acad Child Adolesc Psychiatry 2016 Mar;55(3):159-60

University of California, San Francisco.

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http://dx.doi.org/10.1016/j.jaac.2015.12.013DOI Listing
March 2016

Gene coexpression modules in human cognition.

Nat Neurosci 2016 Feb;19(2):173-5

Department of Psychiatry, University of California, San Francisco, San Francisco, California, USA.

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http://dx.doi.org/10.1038/nn.4226DOI Listing
February 2016

First glimpses of the neurobiology of autism spectrum disorder.

Curr Opin Genet Dev 2015 Aug 9;33:80-92. Epub 2015 Nov 9.

Department of Psychiatry, University of California, San Francisco, San Francisco, CA 94158, USA. Electronic address:

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http://dx.doi.org/10.1016/j.gde.2015.10.002DOI Listing
August 2015

Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation.

Am J Hum Genet 2015 Jul 18;97(1):170-6. Epub 2015 Jun 18.

Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Neurology, Harvard Medical School, Boston, MA 02114, USA; Program in Medical and Population Genetics and Genomics Platform, Broad Institute of Harvard and MIT, Cambridge, MA 02141, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.05.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4571023PMC
July 2015

Sex and gender differences in autism spectrum disorder: summarizing evidence gaps and identifying emerging areas of priority.

Mol Autism 2015 13;6:36. Epub 2015 Jun 13.

The Hospital for Sick Children and Centre for Addiction and Mental Health, Centre for Addiction and Mental Health, University of Toronto, 1001 Queen Street West, Toronto, ON M6J 1H4 Canada ; Division of Child and Adolescent Psychiatry, Centre for Addiction and Mental Health, University of Toronto, 1001 Queen Street West, Toronto, ON M6J 1H4 Canada.

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http://dx.doi.org/10.1186/s13229-015-0019-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4465158PMC
June 2015

The female protective effect in autism spectrum disorder is not mediated by a single genetic locus.

Mol Autism 2015 13;6:25. Epub 2015 May 13.

Department of Genetics, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06520 USA ; Department of Psychiatry, University of California, San Francisco, 401 Parnassus Avenue, San Francisco, CA 94143 USA.

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http://dx.doi.org/10.1186/s13229-015-0014-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4429476PMC
May 2015

Loss of δ-catenin function in severe autism.

Nature 2015 Apr 25;520(7545):51-6. Epub 2015 Mar 25.

1] Center for Complex Disease Genomics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA [2] National Institute of Mental Health (NIMH) Autism Centers of Excellence (ACE) Genetics Consortium at the University of California, Los Angeles, Los Angeles, California 90095, USA.

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http://dx.doi.org/10.1038/nature14186DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4383723PMC
April 2015

The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment.

Nat Commun 2015 Mar 10;6:6404. Epub 2015 Mar 10.

1] Department of Genetics, Yale School of Medicine, 333 Cedar Street, New Haven, Connecticut 06510, USA [2] Kavli Institute for Neuroscience, Yale School of Medicine, PO Box 208001, New Haven, Connecticut 06520, USA.

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http://dx.doi.org/10.1038/ncomms7404DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4355952PMC
March 2015

Genotype to phenotype relationships in autism spectrum disorders.

Nat Neurosci 2015 Feb 22;18(2):191-8. Epub 2014 Dec 22.

1] Department of Biomedical Informatics, Columbia University, New York, New York, USA. [2] Department of Systems Biology, Center for Computational Biology and Bioinformatics, Columbia University, New York, New York, USA.

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http://dx.doi.org/10.1038/nn.3907DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4397214PMC
February 2015

No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins.

PLoS Genet 2015 Jan 26;11(1):e1004852. Epub 2015 Jan 26.

Yale University Department of Genetics, New Haven, Connecticut, United States of America; Yale University Child Study Center, New Haven, Connecticut, United States of America; University of California, San Francisco, Department of Psychiatry, San Francisco, California, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1004852DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4306541PMC
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

Most genetic risk for autism resides with common variation.

Nat Genet 2014 Aug 20;46(8):881-5. Epub 2014 Jul 20.

1] Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, USA. [2] Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA. [3] Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA. [4] Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA. [5] Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, New York, USA. [6] The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

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http://dx.doi.org/10.1038/ng.3039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4137411PMC
August 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

Intellectual disability is associated with increased runs of homozygosity in simplex autism.

Am J Hum Genet 2013 Jul 3;93(1):103-9. Epub 2013 Jul 3.

Laboratory for Molecular Medicine, Department of Molecular Biology, Cell Biology, and Biochemistry, Brown University, 70 Ship Street, Providence, RI 02912, USA.

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http://dx.doi.org/10.1016/j.ajhg.2013.06.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3710760PMC
July 2013

A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder.

Am J Med Genet B Neuropsychiatr Genet 2012 Jul 16;159B(5):529-36. Epub 2012 May 16.

Departamento de Genética e Biologia Evolutiva, Centro de Estudos do Genoma Humano, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1002/ajmg.b.32059DOI Listing
July 2012

Physiological and psychological illness symptoms at high altitude and their relationship with acute mountain sickness: a prospective cohort study.

J Travel Med 2012 Jul 19;19(4):210-9. Epub 2012 Apr 19.

Extremes Research Group, School of Sport, Health and Exercise Sciences, Bangor University, Bangor, Gwynedd, UK.

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http://dx.doi.org/10.1111/j.1708-8305.2012.00609.xDOI Listing
July 2012

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

Body composition at high altitude: a randomized placebo-controlled trial of dietary carbohydrate supplementation.

Am J Clin Nutr 2009 Nov 30;90(5):1193-202. Epub 2009 Sep 30.

School of Sport, Health and Exercise Sciences, Bangor University, George Building, Bangor, Gwynedd, United Kingdom.

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http://dx.doi.org/10.3945/ajcn.2009.28075DOI Listing
November 2009

Medical Expeditions Altitude Symposium, November 30, 2005, St. Catherine's College, Oxford, UK.

High Alt Med Biol 2006 ;7(1):87-9

Medex (Medical Expeditions), London.

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http://dx.doi.org/10.1089/ham.2006.7.87DOI Listing
September 2006