Szabolcs Szelinger

Szabolcs Szelinger

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Szabolcs Szelinger

Szabolcs Szelinger

Publications by authors named "Szabolcs Szelinger"

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Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.

Am J Hum Genet 2019 Aug 5. Epub 2019 Aug 5.

Institute of Genetics and Molecular and Cellular Biology, Illkirch, France; French National Center for Scientific Research, UMR7104, 67400 Illkirch, France; National Institute of Health and Medical Research U964, 67400 Illkirch, France; University of Strasbourg, 67081 Illkirch, France; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH 44195, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.07.010DOI Listing
August 2019

Genome-wide association study identifies 30 loci associated with bipolar disorder.

Authors:
Eli A Stahl Gerome Breen Andreas J Forstner Andrew McQuillin Stephan Ripke Vassily Trubetskoy Manuel Mattheisen Yunpeng Wang Jonathan R I Coleman Héléna A Gaspar Christiaan A de Leeuw Stacy Steinberg Jennifer M Whitehead Pavlides Maciej Trzaskowski Enda M Byrne Tune H Pers Peter A Holmans Alexander L Richards Liam Abbott Esben Agerbo Huda Akil Diego Albani Ney Alliey-Rodriguez Thomas D Als Adebayo Anjorin Verneri Antilla Swapnil Awasthi Judith A Badner Marie Bækvad-Hansen Jack D Barchas Nicholas Bass Michael Bauer Richard Belliveau Sarah E Bergen Carsten Bøcker Pedersen Erlend Bøen Marco P Boks James Boocock Monika Budde William Bunney Margit Burmeister Jonas Bybjerg-Grauholm William Byerley Miquel Casas Felecia Cerrato Pablo Cervantes Kimberly Chambert Alexander W Charney Danfeng Chen Claire Churchhouse Toni-Kim Clarke William Coryell David W Craig Cristiana Cruceanu David Curtis Piotr M Czerski Anders M Dale Simone de Jong Franziska Degenhardt Jurgen Del-Favero J Raymond DePaulo Srdjan Djurovic Amanda L Dobbyn Ashley Dumont Torbjørn Elvsåshagen Valentina Escott-Price Chun Chieh Fan Sascha B Fischer Matthew Flickinger Tatiana M Foroud Liz Forty Josef Frank Christine Fraser Nelson B Freimer Louise Frisén Katrin Gade Diane Gage Julie Garnham Claudia Giambartolomei Marianne Giørtz Pedersen Jaqueline Goldstein Scott D Gordon Katherine Gordon-Smith Elaine K Green Melissa J Green Tiffany A Greenwood Jakob Grove Weihua Guan José Guzman-Parra Marian L Hamshere Martin Hautzinger Urs Heilbronner Stefan Herms Maria Hipolito Per Hoffmann Dominic Holland Laura Huckins Stéphane Jamain Jessica S Johnson Anders Juréus Radhika Kandaswamy Robert Karlsson James L Kennedy Sarah Kittel-Schneider James A Knowles Manolis Kogevinas Anna C Koller Ralph Kupka Catharina Lavebratt Jacob Lawrence William B Lawson Markus Leber Phil H Lee Shawn E Levy Jun Z Li Chunyu Liu Susanne Lucae Anna Maaser Donald J MacIntyre Pamela B Mahon Wolfgang Maier Lina Martinsson Steve McCarroll Peter McGuffin Melvin G McInnis James D McKay Helena Medeiros Sarah E Medland Fan Meng Lili Milani Grant W Montgomery Derek W Morris Thomas W Mühleisen Niamh Mullins Hoang Nguyen Caroline M Nievergelt Annelie Nordin Adolfsson Evaristus A Nwulia Claire O'Donovan Loes M Olde Loohuis Anil P S Ori Lilijana Oruc Urban Ösby Roy H Perlis Amy Perry Andrea Pfennig James B Potash Shaun M Purcell Eline J Regeer Andreas Reif Céline S Reinbold John P Rice Fabio Rivas Margarita Rivera Panos Roussos Douglas M Ruderfer Euijung Ryu Cristina Sánchez-Mora Alan F Schatzberg William A Scheftner Nicholas J Schork Cynthia Shannon Weickert Tatyana Shehktman Paul D Shilling Engilbert Sigurdsson Claire Slaney Olav B Smeland Janet L Sobell Christine Søholm Hansen Anne T Spijker David St Clair Michael Steffens John S Strauss Fabian Streit Jana Strohmaier Szabolcs Szelinger Robert C Thompson Thorgeir E Thorgeirsson Jens Treutlein Helmut Vedder Weiqing Wang Stanley J Watson Thomas W Weickert Stephanie H Witt Simon Xi Wei Xu Allan H Young Peter Zandi Peng Zhang Sebastian Zöllner Rolf Adolfsson Ingrid Agartz Martin Alda Lena Backlund Bernhard T Baune Frank Bellivier Wade H Berrettini Joanna M Biernacka Douglas H R Blackwood Michael Boehnke Anders D Børglum Aiden Corvin Nicholas Craddock Mark J Daly Udo Dannlowski Tõnu Esko Bruno Etain Mark Frye Janice M Fullerton Elliot S Gershon Michael Gill Fernando Goes Maria Grigoroiu-Serbanescu Joanna Hauser David M Hougaard Christina M Hultman Ian Jones Lisa A Jones René S Kahn George Kirov Mikael Landén Marion Leboyer Cathryn M Lewis Qingqin S Li Jolanta Lissowska Nicholas G Martin Fermin Mayoral Susan L McElroy Andrew M McIntosh Francis J McMahon Ingrid Melle Andres Metspalu Philip B Mitchell Gunnar Morken Ole Mors Preben Bo Mortensen Bertram Müller-Myhsok Richard M Myers Benjamin M Neale Vishwajit Nimgaonkar Merete Nordentoft Markus M Nöthen Michael C O'Donovan Ketil J Oedegaard Michael J Owen Sara A Paciga Carlos Pato Michele T Pato Danielle Posthuma Josep Antoni Ramos-Quiroga Marta Ribasés Marcella Rietschel Guy A Rouleau Martin Schalling Peter R Schofield Thomas G Schulze Alessandro Serretti Jordan W Smoller Hreinn Stefansson Kari Stefansson Eystein Stordal Patrick F Sullivan Gustavo Turecki Arne E Vaaler Eduard Vieta John B Vincent Thomas Werge John I Nurnberger Naomi R Wray Arianna Di Florio Howard J Edenberg Sven Cichon Roel A Ophoff Laura J Scott Ole A Andreassen John Kelsoe Pamela Sklar

Nat Genet 2019 05 1;51(5):793-803. Epub 2019 May 1.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://www.nature.com/articles/s41588-019-0397-8
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http://dx.doi.org/10.1038/s41588-019-0397-8DOI Listing
May 2019

Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results.

Semin Pediatr Neurol 2018 07 16;26:28-32. Epub 2017 Aug 16.

Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ; School of Life Sciences, Arizona State University, Tempe, AZ. Electronic address:

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http://dx.doi.org/10.1016/j.spen.2017.08.008DOI Listing
July 2018

Genome-wide association study of 40,000 individuals identifies two novel loci associated with bipolar disorder.

Authors:
Liping Hou Sarah E Bergen Nirmala Akula Jie Song Christina M Hultman Mikael Landén Mazda Adli Martin Alda Raffaella Ardau Bárbara Arias Jean-Michel Aubry Lena Backlund Judith A Badner Thomas B Barrett Michael Bauer Bernhard T Baune Frank Bellivier Antonio Benabarre Susanne Bengesser Wade H Berrettini Abesh Kumar Bhattacharjee Joanna M Biernacka Armin Birner Cinnamon S Bloss Clara Brichant-Petitjean Elise T Bui William Byerley Pablo Cervantes Caterina Chillotti Sven Cichon Francesc Colom William Coryell David W Craig Cristiana Cruceanu Piotr M Czerski Tony Davis Alexandre Dayer Franziska Degenhardt Maria Del Zompo J Raymond DePaulo Howard J Edenberg Bruno Étain Peter Falkai Tatiana Foroud Andreas J Forstner Louise Frisén Mark A Frye Janice M Fullerton Sébastien Gard Julie S Garnham Elliot S Gershon Fernando S Goes Tiffany A Greenwood Maria Grigoroiu-Serbanescu Joanna Hauser Urs Heilbronner Stefanie Heilmann-Heimbach Stefan Herms Maria Hipolito Shashi Hitturlingappa Per Hoffmann Andrea Hofmann Stephane Jamain Esther Jiménez Jean-Pierre Kahn Layla Kassem John R Kelsoe Sarah Kittel-Schneider Sebastian Kliwicki Daniel L Koller Barbara König Nina Lackner Gonzalo Laje Maren Lang Catharina Lavebratt William B Lawson Marion Leboyer Susan G Leckband Chunyu Liu Anna Maaser Pamela B Mahon Wolfgang Maier Mario Maj Mirko Manchia Lina Martinsson Michael J McCarthy Susan L McElroy Melvin G McInnis Rebecca McKinney Philip B Mitchell Marina Mitjans Francis M Mondimore Palmiero Monteleone Thomas W Mühleisen Caroline M Nievergelt Markus M Nöthen Tomas Novák John I Nurnberger Evaristus A Nwulia Urban Ösby Andrea Pfennig James B Potash Peter Propping Andreas Reif Eva Reininghaus John Rice Marcella Rietschel Guy A Rouleau Janusz K Rybakowski Martin Schalling William A Scheftner Peter R Schofield Nicholas J Schork Thomas G Schulze Johannes Schumacher Barbara W Schweizer Giovanni Severino Tatyana Shekhtman Paul D Shilling Christian Simhandl Claire M Slaney Erin N Smith Alessio Squassina Thomas Stamm Pavla Stopkova Fabian Streit Jana Strohmaier Szabolcs Szelinger Sarah K Tighe Alfonso Tortorella Gustavo Turecki Eduard Vieta Julia Volkert Stephanie H Witt Adam Wright Peter P Zandi Peng Zhang Sebastian Zollner Francis J McMahon

Hum Mol Genet 2016 08 21;25(15):3383-3394. Epub 2016 Jun 21.

Intramural Research Program, National Institute of Mental Health, National Institutes of Health,U.S. Department of Health & Human Services, Bethesda, MD, USA,

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http://dx.doi.org/10.1093/hmg/ddw181DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5179929PMC
August 2016

A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.

Am J Hum Genet 2016 05 28;98(5):909-918. Epub 2016 Apr 28.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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http://dx.doi.org/10.1016/j.ajhg.2016.03.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863664PMC
May 2016

Genome-wide association study of 40,000 individuals identifies two novel loci associated with bipolar disorder.

Authors:
Liping Hou Sarah E Bergen Nirmala Akula Jie Song Christina M Hultman Mikael Landén Mazda Adli Martin Alda Raffaella Ardau Bárbara Arias Jean-Michel Aubry Lena Backlund Judith A Badner Thomas B Barrett Michael Bauer Bernhard T Baune Frank Bellivier Antonio Benabarre Susanne Bengesser Wade H Berrettini Abesh Kumar Bhattacharjee Joanna M Biernacka Armin Birner Cinnamon S Bloss Clara Brichant-Petitjean Elise T Bui William Byerley Pablo Cervantes Caterina Chillotti Sven Cichon Francesc Colom William Coryell David W Craig Cristiana Cruceanu Piotr M Czerski Tony Davis Alexandre Dayer Franziska Degenhardt Maria Del Zompo J Raymond DePaulo Howard J Edenberg Bruno Étain Peter Falkai Tatiana Foroud Andreas J Forstner Louise Frisén Mark A Frye Janice M Fullerton Sébastien Gard Julie S Garnham Elliot S Gershon Fernando S Goes Tiffany A Greenwood Maria Grigoroiu-Serbanescu Joanna Hauser Urs Heilbronner Stefanie Heilmann-Heimbach Stefan Herms Maria Hipolito Shashi Hitturlingappa Per Hoffmann Andrea Hofmann Stephane Jamain Esther Jiménez Jean-Pierre Kahn Layla Kassem John R Kelsoe Sarah Kittel-Schneider Sebastian Kliwicki Daniel L Koller Barbara König Nina Lackner Gonzalo Laje Maren Lang Catharina Lavebratt William B Lawson Marion Leboyer Susan G Leckband Chunyu Liu Anna Maaser Pamela B Mahon Wolfgang Maier Mario Maj Mirko Manchia Lina Martinsson Michael J McCarthy Susan L McElroy Melvin G McInnis Rebecca McKinney Philip B Mitchell Marina Mitjans Francis M Mondimore Palmiero Monteleone Thomas W Mühleisen Caroline M Nievergelt Markus M Nöthen Tomas Novák John I Nurnberger Evaristus A Nwulia Urban Ösby Andrea Pfennig James B Potash Peter Propping Andreas Reif Eva Reininghaus John Rice Marcella Rietschel Guy A Rouleau Janusz K Rybakowski Martin Schalling William A Scheftner Peter R Schofield Nicholas J Schork Thomas G Schulze Johannes Schumacher Barbara W Schweizer Giovanni Severino Tatyana Shekhtman Paul D Shilling Christian Simhandl Claire M Slaney Erin N Smith Alessio Squassina Thomas Stamm Pavla Stopkova Fabian Streit Jana Strohmaier Szabolcs Szelinger Sarah K Tighe Alfonso Tortorella Gustavo Turecki Eduard Vieta Julia Volkert Stephanie H Witt Adam Wright Peter P Zandi Peng Zhang Sebastian Zollner Francis J McMahon

Hum Mol Genet 2016 08 21;25(15):3383-3394. Epub 2016 Jun 21.

Intramural Research Program, National Institute of Mental Health, National Institutes of Health,U.S. Department of Health & Human Services, Bethesda, MD, USA,

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http://dx.doi.org/10.1093/hmg/ddw181DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5179929PMC
August 2016

A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome.

PLoS One 2015 15;10(7):e0131797. Epub 2015 Jul 15.

Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States of America; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0131797PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4503302PMC
April 2016

Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities.

F1000Res 2015 28;4:912. Epub 2015 Sep 28.

Arizona Pediatric Neurology & Neurogenetics Associates, Phoenix, AZ, USA ; Barrow Neurological Institute, Phoenix, AZ, USA ; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA ; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA.

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http://dx.doi.org/10.12688/f1000research.7106.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4617320PMC
November 2015

A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi Syndrome.

Invest Ophthalmol Vis Sci 2015 Jun;56(6):3896-904

Dorrance Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, United States 2Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Arizona, United States.

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http://dx.doi.org/10.1167/iovs.14-16261DOI Listing
June 2015

In vitro-differentiated neural cell cultures progress towards donor-identical brain tissue.

Hum Mol Genet 2013 Sep 10;22(17):3534-46. Epub 2013 May 10.

Neurogenomics Division, The Translational Genomics Research Institute (TGen), Phoenix, AZ 85004, USA.

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http://dx.doi.org/10.1093/hmg/ddt208DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3736871PMC
September 2013

Induction of pluripotent stem cells from autopsy donor-derived somatic cells.

Neurosci Lett 2011 Sep 4;502(3):219-24. Epub 2011 Aug 4.

Neurogenomics Division, The Translational Genomics Research Institute (TGen), Phoenix, AZ, USA.

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http://dx.doi.org/10.1016/j.neulet.2011.07.048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3195418PMC
September 2011

Microarray-based genome-wide association studies using pooled DNA.

Methods Mol Biol 2011 ;700:49-60

Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA.

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http://dx.doi.org/10.1007/978-1-61737-954-3_4DOI Listing
April 2011

Bar-coded, multiplexed sequencing of targeted DNA regions using the Illumina Genome Analyzer.

Methods Mol Biol 2011 ;700:89-104

Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA.

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http://dx.doi.org/10.1007/978-1-61737-954-3_7DOI Listing
April 2011

BING: biomedical informatics pipeline for Next Generation Sequencing.

J Biomed Inform 2010 Jun 28;43(3):428-34. Epub 2009 Nov 28.

Department of Biomedical Informatics, Arizona State University, Phoenix, AZ 85004-2157, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S15320464090014
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http://dx.doi.org/10.1016/j.jbi.2009.11.003DOI Listing
June 2010