Christian Kubisch

Christian Kubisch

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Christian Kubisch

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Rationale and Design of the Hamburg City Health Study.

Eur J Epidemiol 2020 Feb 8;35(2):169-181. Epub 2019 Nov 8.

Department of General and Interventional Cardiology, University Heart and Vascular Center, Hamburg, Germany.

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http://dx.doi.org/10.1007/s10654-019-00577-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7125064PMC
February 2020

Hereditary Syndromes with Signs of Premature Aging.

Dtsch Arztebl Int 2019 07;116(29-30):489-496

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg; Martin Zeitz Center for Rare Diseases, University Medical Center Hamburg-Eppendorf, Hamburg.

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http://dx.doi.org/10.3238/arztebl.2019.0489DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6726857PMC
July 2019

Exome Sequencing in Children.

Dtsch Arztebl Int 2019 03;116(12):197-204

*Joint last authors; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf; Department of Pediatrics, University Medical Center Hamburg-Eppendorf; Institute of Human Genetics, Klinikum Rechts der Isar, TUM, Munich; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen; Institute of Human Genetics, Helmholtz Center Munich; Undiagnosed Disease Program at the University Medical Center Hamburg-Eppendorf (UDP-UKE).

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http://dx.doi.org/10.3238/arztebl.2019.0197DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6514384PMC
March 2019

Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome.

Am J Hum Genet 2018 12 15;103(6):976-983. Epub 2018 Nov 15.

Department of Ophthalmology, Haukeland University Hospital, N-5021 Bergen, Norway; Department of Medical Genetics, Haukeland University Hospital, N-5021 Bergen, Norway; Department of Clinical Medicine, University of Bergen, N-5021 Bergen, Norway.

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183036
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http://dx.doi.org/10.1016/j.ajhg.2018.10.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288050PMC
December 2018

Interdisciplinary Screening, Diagnosis, Therapy and Follow-up of Breast Cancer. Guideline of the DGGG and the DKG (S3-Level, AWMF Registry Number 032/045OL, December 2017) - Part 2 with Recommendations for the Therapy of Primary, Recurrent and Advanced Breast Cancer.

Authors:
Achim Wöckel Jasmin Festl Tanja Stüber Katharina Brust Mathias Krockenberger Peter U Heuschmann Steffi Jírů-Hillmann Ute-Susann Albert Wilfried Budach Markus Follmann Wolfgang Janni Ina Kopp Rolf Kreienberg Thorsten Kühn Thomas Langer Monika Nothacker Anton Scharl Ingrid Schreer Hartmut Link Jutta Engel Tanja Fehm Joachim Weis Anja Welt Anke Steckelberg Petra Feyer Klaus König Andrea Hahne Traudl Baumgartner Hans H Kreipe Wolfram Trudo Knoefel Michael Denkinger Sara Brucker Diana Lüftner Christian Kubisch Christina Gerlach Annette Lebeau Friederike Siedentopf Cordula Petersen Hans Helge Bartsch Rüdiger Schulz-Wendtland Markus Hahn Volker Hanf Markus Müller-Schimpfle Ulla Henscher Renza Roncarati Alexander Katalinic Christoph Heitmann Christoph Honegger Kerstin Paradies Vesna Bjelic-Radisic Friedrich Degenhardt Frederik Wenz Oliver Rick Dieter Hölzel Matthias Zaiss Gudrun Kemper Volker Budach Carsten Denkert Bernd Gerber Hans Tesch Susanne Hirsmüller Hans-Peter Sinn Jürgen Dunst Karsten Münstedt Ulrich Bick Eva Fallenberg Reina Tholen Roswita Hung Freerk Baumann Matthias W Beckmann Jens Blohmer Peter Fasching Michael P Lux Nadia Harbeck Peyman Hadji Hans Hauner Sylvia Heywang-Köbrunner Jens Huober Jutta Hübner Christian Jackisch Sibylle Loibl Hans-Jürgen Lück Gunter von Minckwitz Volker Möbus Volkmar Müller Ute Nöthlings Marcus Schmidt Rita Schmutzler Andreas Schneeweiss Florian Schütz Elmar Stickeler Christoph Thomssen Michael Untch Simone Wesselmann Arno Bücker Andreas Buck Stephanie Stangl

Geburtshilfe Frauenheilkd 2018 Nov 26;78(11):1056-1088. Epub 2018 Nov 26.

Institut für Klinische Epidemiologie und Biometrie (IKE-B), Universität Würzburg, Würzburg, Germany.

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http://www.thieme-connect.de/DOI/DOI?10.1055/a-0646-4630
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http://dx.doi.org/10.1055/a-0646-4630DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6261741PMC
November 2018

Interdisciplinary Screening, Diagnosis, Therapy and Follow-up of Breast Cancer. Guideline of the DGGG and the DKG (S3-Level, AWMF Registry Number 032/045OL, December 2017) - Part 1 with Recommendations for the Screening, Diagnosis and Therapy of Breast Cancer.

Geburtshilfe Frauenheilkd 2018 Oct 19;78(10):927-948. Epub 2018 Oct 19.

Universitätsfrauenklinik Würzburg, Universität Würzburg, Würzburg, Germany.

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http://www.thieme-connect.de/DOI/DOI?10.1055/a-0646-4522
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http://dx.doi.org/10.1055/a-0646-4522DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6202580PMC
October 2018

AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance.

Audiol Neurootol 2017 10;22(1):30-40. Epub 2017 Jun 10.

Department of Otorhinolaryngology, Head and Neck Surgery, University of Cologne, Cologne, Germany.

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http://dx.doi.org/10.1159/000474929DOI Listing
September 2018

Current knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosis.

Med Genet 2018 13;30(2):252-258. Epub 2018 Jul 13.

1Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246 Hamburg, Germany.

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http://dx.doi.org/10.1007/s11825-018-0185-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6132774PMC
July 2018

Analysis of shared heritability in common disorders of the brain.

Authors:
Verneri Anttila Brendan Bulik-Sullivan Hilary K Finucane Raymond K Walters Jose Bras Laramie Duncan Valentina Escott-Price Guido J Falcone Padhraig Gormley Rainer Malik Nikolaos A Patsopoulos Stephan Ripke Zhi Wei Dongmei Yu Phil H Lee Patrick Turley Benjamin Grenier-Boley Vincent Chouraki Yoichiro Kamatani Claudine Berr Luc Letenneur Didier Hannequin Philippe Amouyel Anne Boland Jean-François Deleuze Emmanuelle Duron Badri N Vardarajan Christiane Reitz Alison M Goate Matthew J Huentelman M Ilyas Kamboh Eric B Larson Ekaterina Rogaeva Peter St George-Hyslop Hakon Hakonarson Walter A Kukull Lindsay A Farrer Lisa L Barnes Thomas G Beach F Yesim Demirci Elizabeth Head Christine M Hulette Gregory A Jicha John S K Kauwe Jeffrey A Kaye James B Leverenz Allan I Levey Andrew P Lieberman Vernon S Pankratz Wayne W Poon Joseph F Quinn Andrew J Saykin Lon S Schneider Amanda G Smith Joshua A Sonnen Robert A Stern Vivianna M Van Deerlin Linda J Van Eldik Denise Harold Giancarlo Russo David C Rubinsztein Anthony Bayer Magda Tsolaki Petra Proitsi Nick C Fox Harald Hampel Michael J Owen Simon Mead Peter Passmore Kevin Morgan Markus M Nöthen Martin Rossor Michelle K Lupton Per Hoffmann Johannes Kornhuber Brian Lawlor Andrew McQuillin Ammar Al-Chalabi Joshua C Bis Agustin Ruiz Mercè Boada Sudha Seshadri Alexa Beiser Kenneth Rice Sven J van der Lee Philip L De Jager Daniel H Geschwind Matthias Riemenschneider Steffi Riedel-Heller Jerome I Rotter Gerhard Ransmayr Bradley T Hyman Carlos Cruchaga Montserrat Alegret Bendik Winsvold Priit Palta Kai-How Farh Ester Cuenca-Leon Nicholas Furlotte Tobias Kurth Lannie Ligthart Gisela M Terwindt Tobias Freilinger Caroline Ran Scott D Gordon Guntram Borck Hieab H H Adams Terho Lehtimäki Juho Wedenoja Julie E Buring Markus Schürks Maria Hrafnsdottir Jouke-Jan Hottenga Brenda Penninx Ville Artto Mari Kaunisto Salli Vepsäläinen Nicholas G Martin Grant W Montgomery Mitja I Kurki Eija Hämäläinen Hailiang Huang Jie Huang Cynthia Sandor Caleb Webber Bertram Muller-Myhsok Stefan Schreiber Veikko Salomaa Elizabeth Loehrer Hartmut Göbel Alfons Macaya Patricia Pozo-Rosich Thomas Hansen Thomas Werge Jaakko Kaprio Andres Metspalu Christian Kubisch Michel D Ferrari Andrea C Belin Arn M J M van den Maagdenberg John-Anker Zwart Dorret Boomsma Nicholas Eriksson Jes Olesen Daniel I Chasman Dale R Nyholt Andreja Avbersek Larry Baum Samuel Berkovic Jonathan Bradfield Russell J Buono Claudia B Catarino Patrick Cossette Peter De Jonghe Chantal Depondt Dennis Dlugos Thomas N Ferraro Jacqueline French Helle Hjalgrim Jennifer Jamnadas-Khoda Reetta Kälviäinen Wolfram S Kunz Holger Lerche Costin Leu Dick Lindhout Warren Lo Daniel Lowenstein Mark McCormack Rikke S Møller Anne Molloy Ping-Wing Ng Karen Oliver Michael Privitera Rodney Radtke Ann-Kathrin Ruppert Thomas Sander Steven Schachter Christoph Schankin Ingrid Scheffer Susanne Schoch Sanjay M Sisodiya Philip Smith Michael Sperling Pasquale Striano Rainer Surges G Neil Thomas Frank Visscher Christopher D Whelan Federico Zara Erin L Heinzen Anthony Marson Felicitas Becker Hans Stroink Fritz Zimprich Thomas Gasser Raphael Gibbs Peter Heutink Maria Martinez Huw R Morris Manu Sharma Mina Ryten Kin Y Mok Sara Pulit Steve Bevan Elizabeth Holliday John Attia Thomas Battey Giorgio Boncoraglio Vincent Thijs Wei-Min Chen Braxton Mitchell Peter Rothwell Pankaj Sharma Cathie Sudlow Astrid Vicente Hugh Markus Christina Kourkoulis Joana Pera Miriam Raffeld Scott Silliman Vesna Boraska Perica Laura M Thornton Laura M Huckins N William Rayner Cathryn M Lewis Monica Gratacos Filip Rybakowski Anna Keski-Rahkonen Anu Raevuori James I Hudson Ted Reichborn-Kjennerud Palmiero Monteleone Andreas Karwautz Katrin Mannik Jessica H Baker Julie K O'Toole Sara E Trace Oliver S P Davis Sietske G Helder Stefan Ehrlich Beate Herpertz-Dahlmann Unna N Danner Annemarie A van Elburg Maurizio Clementi Monica Forzan Elisa Docampo Jolanta Lissowska Joanna Hauser Alfonso Tortorella Mario Maj Fragiskos Gonidakis Konstantinos Tziouvas Hana Papezova Zeynep Yilmaz Gudrun Wagner Sarah Cohen-Woods Stefan Herms Antonio Julià Raquel Rabionet Danielle M Dick Samuli Ripatti Ole A Andreassen Thomas Espeseth Astri J Lundervold Vidar M Steen Dalila Pinto Stephen W Scherer Harald Aschauer Alexandra Schosser Lars Alfredsson Leonid Padyukov Katherine A Halmi James Mitchell Michael Strober Andrew W Bergen Walter Kaye Jin Peng Szatkiewicz Bru Cormand Josep Antoni Ramos-Quiroga Cristina Sánchez-Mora Marta Ribasés Miguel Casas Amaia Hervas Maria Jesús Arranz Jan Haavik Tetyana Zayats Stefan Johansson Nigel Williams Astrid Dempfle Aribert Rothenberger Jonna Kuntsi Robert D Oades Tobias Banaschewski Barbara Franke Jan K Buitelaar Alejandro Arias Vasquez Alysa E Doyle Andreas Reif Klaus-Peter Lesch Christine Freitag Olga Rivero Haukur Palmason Marcel Romanos Kate Langley Marcella Rietschel Stephanie H Witt Soeren Dalsgaard Anders D Børglum Irwin Waldman Beth Wilmot Nikolas Molly Claiton H D Bau Jennifer Crosbie Russell Schachar Sandra K Loo James J McGough Eugenio H Grevet Sarah E Medland Elise Robinson Lauren A Weiss Elena Bacchelli Anthony Bailey Vanessa Bal Agatino Battaglia Catalina Betancur Patrick Bolton Rita Cantor Patrícia Celestino-Soper Geraldine Dawson Silvia De Rubeis Frederico Duque Andrew Green Sabine M Klauck Marion Leboyer Pat Levitt Elena Maestrini Shrikant Mane Daniel Moreno- De-Luca Jeremy Parr Regina Regan Abraham Reichenberg Sven Sandin Jacob Vorstman Thomas Wassink Ellen Wijsman Edwin Cook Susan Santangelo Richard Delorme Bernadette Rogé Tiago Magalhaes Dan Arking Thomas G Schulze Robert C Thompson Jana Strohmaier Keith Matthews Ingrid Melle Derek Morris Douglas Blackwood Andrew McIntosh Sarah E Bergen Martin Schalling Stéphane Jamain Anna Maaser Sascha B Fischer Céline S Reinbold Janice M Fullerton José Guzman-Parra Fermin Mayoral Peter R Schofield Sven Cichon Thomas W Mühleisen Franziska Degenhardt Johannes Schumacher Michael Bauer Philip B Mitchell Elliot S Gershon John Rice James B Potash Peter P Zandi Nick Craddock I Nicol Ferrier Martin Alda Guy A Rouleau Gustavo Turecki Roel Ophoff Carlos Pato Adebayo Anjorin Eli Stahl Markus Leber Piotr M Czerski Cristiana Cruceanu Ian R Jones Danielle Posthuma Till F M Andlauer Andreas J Forstner Fabian Streit Bernhard T Baune Tracy Air Grant Sinnamon Naomi R Wray Donald J MacIntyre David Porteous Georg Homuth Margarita Rivera Jakob Grove Christel M Middeldorp Ian Hickie Michele Pergadia Divya Mehta Johannes H Smit Rick Jansen Eco de Geus Erin Dunn Qingqin S Li Matthias Nauck Robert A Schoevers Aartjan Tf Beekman James A Knowles Alexander Viktorin Paul Arnold Cathy L Barr Gabriel Bedoya-Berrio O Joseph Bienvenu Helena Brentani Christie Burton Beatriz Camarena Carolina Cappi Danielle Cath Maria Cavallini Daniele Cusi Sabrina Darrow Damiaan Denys Eske M Derks Andrea Dietrich Thomas Fernandez Martijn Figee Nelson Freimer Gloria Gerber Marco Grados Erica Greenberg Gregory L Hanna Andreas Hartmann Matthew E Hirschtritt Pieter J Hoekstra Alden Huang Chaim Huyser Cornelia Illmann Michael Jenike Samuel Kuperman Bennett Leventhal Christine Lochner Gholson J Lyon Fabio Macciardi Marcos Madruga-Garrido Irene A Malaty Athanasios Maras Lauren McGrath Eurípedes C Miguel Pablo Mir Gerald Nestadt Humberto Nicolini Michael S Okun Andrew Pakstis Peristera Paschou John Piacentini Christopher Pittenger Kerstin Plessen Vasily Ramensky Eliana M Ramos Victor Reus Margaret A Richter Mark A Riddle Mary M Robertson Veit Roessner Maria Rosário Jack F Samuels Paul Sandor Dan J Stein Fotis Tsetsos Filip Van Nieuwerburgh Sarah Weatherall Jens R Wendland Tomasz Wolanczyk Yulia Worbe Gwyneth Zai Fernando S Goes Nicole McLaughlin Paul S Nestadt Hans-Jorgen Grabe Christel Depienne Anuar Konkashbaev Nuria Lanzagorta Ana Valencia-Duarte Elvira Bramon Nancy Buccola Wiepke Cahn Murray Cairns Siow A Chong David Cohen Benedicto Crespo-Facorro James Crowley Michael Davidson Lynn DeLisi Timothy Dinan Gary Donohoe Elodie Drapeau Jubao Duan Lieuwe Haan David Hougaard Sena Karachanak-Yankova Andrey Khrunin Janis Klovins Vaidutis Kučinskas Jimmy Lee Chee Keong Svetlana Limborska Carmel Loughland Jouko Lönnqvist Brion Maher Manuel Mattheisen Colm McDonald Kieran C Murphy Igor Nenadic Jim van Os Christos Pantelis Michele Pato Tracey Petryshen Digby Quested Panos Roussos Alan R Sanders Ulrich Schall Sibylle G Schwab Kang Sim Hon-Cheong So Elisabeth Stögmann Mythily Subramaniam Draga Toncheva John Waddington James Walters Mark Weiser Wei Cheng Robert Cloninger David Curtis Pablo V Gejman Frans Henskens Morten Mattingsdal Sang-Yun Oh Rodney Scott Bradley Webb Gerome Breen Claire Churchhouse Cynthia M Bulik Mark Daly Martin Dichgans Stephen V Faraone Rita Guerreiro Peter Holmans Kenneth S Kendler Bobby Koeleman Carol A Mathews Alkes Price Jeremiah Scharf Pamela Sklar Julie Williams Nicholas W Wood Chris Cotsapas Aarno Palotie Jordan W Smoller Patrick Sullivan Jonathan Rosand Aiden Corvin Benjamin M Neale Jonathan M Schott Richard Anney Josephine Elia Maria Grigoroiu-Serbanescu Howard J Edenberg Robin Murray

Science 2018 06;360(6395)

Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.

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http://dx.doi.org/10.1126/science.aap8757DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6097237PMC
June 2018

Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.

Am J Med Genet A 2017 Nov 8;173(11):3098-3103. Epub 2017 Sep 8.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.38406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5659324PMC
November 2017

The rapid evolution of molecular genetic diagnostics in neuromuscular diseases.

Curr Opin Neurol 2017 10;30(5):523-528

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1097/WCO.0000000000000478DOI Listing
October 2017

Severe bone loss and multiple fractures in SCN8A-related epileptic encephalopathy.

Bone 2017 Oct 1;103:136-143. Epub 2017 Jul 1.

Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Lottestr. 59, 22529 Hamburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2017.06.025DOI Listing
October 2017

First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features.

Eur J Med Genet 2017 Sep 4;60(9):494-498. Epub 2017 Jul 4.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173016
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http://dx.doi.org/10.1016/j.ejmg.2017.07.001DOI Listing
September 2017

Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies.

Hum Genet 2017 03 8;136(3):339-346. Epub 2017 Feb 8.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.

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http://dx.doi.org/10.1007/s00439-017-1762-2DOI Listing
March 2017

Corrigendum: Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine.

Authors:
Padhraig Gormley Verneri Anttila Bendik S Winsvold Priit Palta Tonu Esko Tune H Pers Kai-How Farh Ester Cuenca-Leon Mikko Muona Nicholas A Furlotte Tobias Kurth Andres Ingason George McMahon Lannie Ligthart Gisela M Terwindt Mikko Kallela Tobias M Freilinger Caroline Ran Scott G Gordon Anine H Stam Stacy Steinberg Guntram Borck Markku Koiranen Lydia Quaye Hieab H H Adams Terho Lehtimäki Antti-Pekka Sarin Juho Wedenoja David A Hinds Julie E Buring Markus Schürks Paul M Ridker Maria Gudlaug Hrafnsdottir Hreinn Stefansson Susan M Ring Jouke-Jan Hottenga Brenda W J H Penninx Markus Färkkilä Ville Artto Mari Kaunisto Salli Vepsäläinen Rainer Malik Andrew C Heath Pamela A F Madden Nicholas G Martin Grant W Montgomery Mitja I Kurki Mart Kals Reedik Mägi Kalle Pärn Eija Hämäläinen Hailiang Huang Andrea E Byrnes Lude Franke Jie Huang Evie Stergiakouli Phil H Lee Cynthia Sandor Caleb Webber Zameel Cader Bertram Muller-Myhsok Stefan Schreiber Thomas Meitinger Johan G Eriksson Veikko Salomaa Kauko Heikkilä Elizabeth Loehrer Andre G Uitterlinden Albert Hofman Cornelia M van Duijn Lynn Cherkas Linda M Pedersen Audun Stubhaug Christopher S Nielsen Minna Männikkö Evelin Mihailov Lili Milani Hartmut Göbel Ann-Louise Esserlind Anne Francke Christensen Thomas Folkmann Hansen Thomas Werge Jaakko Kaprio Arpo J Aromaa Olli Raitakari M Arfan Ikram Tim Spector Marjo-Riitta Järvelin Andres Metspalu Christian Kubisch David P Strachan Michel D Ferrari Andrea C Belin Martin Dichgans Maija Wessman Arn M J M van den Maagdenberg John-Anker Zwart Dorret I Boomsma George Davey Smith Kari Stefansson Nicholas Eriksson Mark J Daly Benjamin M Neale Jes Olesen Daniel I Chasman Dale R Nyholt Aarno Palotie

Nat Genet 2016 09;48(10):1296

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http://dx.doi.org/10.1038/ng1016-1296cDOI Listing
September 2016

Increased copper toxicity in Saccharomyces cerevisiae lacking VPS35, a component of the retromer and monogenic Parkinson disease gene in humans.

Biochem Biophys Res Commun 2016 08 1;476(4):528-533. Epub 2016 Jun 1.

Institute of Human Genetics, University of Ulm, Ulm, Germany; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.bbrc.2016.05.157DOI Listing
August 2016

Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine.

Authors:
Padhraig Gormley Verneri Anttila Bendik S Winsvold Priit Palta Tonu Esko Tune H Pers Kai-How Farh Ester Cuenca-Leon Mikko Muona Nicholas A Furlotte Tobias Kurth Andres Ingason George McMahon Lannie Ligthart Gisela M Terwindt Mikko Kallela Tobias M Freilinger Caroline Ran Scott G Gordon Anine H Stam Stacy Steinberg Guntram Borck Markku Koiranen Lydia Quaye Hieab H H Adams Terho Lehtimäki Antti-Pekka Sarin Juho Wedenoja David A Hinds Julie E Buring Markus Schürks Paul M Ridker Maria Gudlaug Hrafnsdottir Hreinn Stefansson Susan M Ring Jouke-Jan Hottenga Brenda W J H Penninx Markus Färkkilä Ville Artto Mari Kaunisto Salli Vepsäläinen Rainer Malik Andrew C Heath Pamela A F Madden Nicholas G Martin Grant W Montgomery Mitja I Kurki Mart Kals Reedik Mägi Kalle Pärn Eija Hämäläinen Hailiang Huang Andrea E Byrnes Lude Franke Jie Huang Evie Stergiakouli Phil H Lee Cynthia Sandor Caleb Webber Zameel Cader Bertram Muller-Myhsok Stefan Schreiber Thomas Meitinger Johan G Eriksson Veikko Salomaa Kauko Heikkilä Elizabeth Loehrer Andre G Uitterlinden Albert Hofman Cornelia M van Duijn Lynn Cherkas Linda M Pedersen Audun Stubhaug Christopher S Nielsen Minna Männikkö Evelin Mihailov Lili Milani Hartmut Göbel Ann-Louise Esserlind Anne Francke Christensen Thomas Folkmann Hansen Thomas Werge Jaakko Kaprio Arpo J Aromaa Olli Raitakari M Arfan Ikram Tim Spector Marjo-Riitta Järvelin Andres Metspalu Christian Kubisch David P Strachan Michel D Ferrari Andrea C Belin Martin Dichgans Maija Wessman Arn M J M van den Maagdenberg John-Anker Zwart Dorret I Boomsma George Davey Smith Kari Stefansson Nicholas Eriksson Mark J Daly Benjamin M Neale Jes Olesen Daniel I Chasman Dale R Nyholt Aarno Palotie

Nat Genet 2016 08 20;48(8):856-66. Epub 2016 Jun 20.

Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.

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http://biorxiv.org/content/biorxiv/early/2015/11/02/030288.f
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http://dx.doi.org/10.1038/ng.3598DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5331903PMC
August 2016

Involvement of astrocyte and oligodendrocyte gene sets in migraine.

Cephalalgia 2016 Jun 7;36(7):640-7. Epub 2015 Dec 7.

Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Neuroscience Campus Amsterdam, VU University, The Netherlands Department of Clinical Genetics, VU University Medical Centre, The Netherlands.

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http://dx.doi.org/10.1177/0333102415618614DOI Listing
June 2016

A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing.

Am J Med Genet A 2015 Dec 3;167A(12):3006-10. Epub 2015 Sep 3.

Institute of Human Genetics, University of Ulm, Ulm, Germany.

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http://dx.doi.org/10.1002/ajmg.a.37343DOI Listing
December 2015

Genome-wide significant association with seven novel multiple sclerosis risk loci.

J Med Genet 2015 Dec 16;52(12):848-55. Epub 2015 Oct 16.

Platform for Genome Analytics, Institutes of Neurogenetics & Integrative and Experimental Genomics, University of Lübeck, Lübeck, Germany Department of Vertebrate Genomics, Max Planck Institute for Molecular Genetics, Berlin, Germany Department of Medicine, School of Public Health, Imperial College London, London, UK.

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http://dx.doi.org/10.1136/jmedgenet-2015-103442DOI Listing
December 2015

De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients.

Neurobiol Aging 2015 Nov 15;36(11):3117.e1-3117.e6. Epub 2015 Aug 15.

Institute of Human Genetics, University of Ulm, Ulm, Germany; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.08.005DOI Listing
November 2015

Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome.

Mol Cell Probes 2015 Oct 13;29(5):330-4. Epub 2015 Jul 13.

Institute of Human Genetics, University of Ulm, Ulm, Germany.

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http://dx.doi.org/10.1016/j.mcp.2015.07.003DOI Listing
October 2015

Interactive effects of citalopram and serotonin transporter genotype on neural correlates of response inhibition and attentional orienting.

Neuroimage 2015 Aug 6;116:59-67. Epub 2015 May 6.

Otto-von-Guericke University, Institute of Psychology II, Magdeburg, Germany; Max Planck Institute for Neurological Research, Cologne, Germany; Radboud University, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, Netherlands; Center for Behavioral Brain Sciences, Magdeburg, Germany.

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http://dx.doi.org/10.1016/j.neuroimage.2015.04.064DOI Listing
August 2015

Clinical utility gene card for: Werner Syndrome--Update 2014.

Eur J Hum Genet 2015 Jun 3;23(6). Epub 2014 Sep 3.

Department of Pathology, University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1038/ejhg.2014.171DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795068PMC
June 2015

Concordance of genetic risk across migraine subgroups: Impact on current and future genetic association studies.

Cephalalgia 2015 May 1;35(6):489-99. Epub 2014 Sep 1.

Analytical and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, USA Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, USA Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, USA Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Finland Psychiatric & Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, USA Department of Neurology, Massachusetts General Hospital, USA.

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http://dx.doi.org/10.1177/0333102414547784DOI Listing
May 2015

Serotonin reuptake inhibitors and serotonin transporter genotype modulate performance monitoring functions but not their electrophysiological correlates.

J Neurosci 2015 May;35(21):8181-90

Otto-von-Guericke University, Institute of Psychology, D-39106 Magdeburg, Germany, Max Planck Institute for Neurological Research, D-50866 Cologne, Germany, Radboud University, Donders Institute for Brain, Cognition and Behaviour, 6525 Nijmegen, The Netherlands, and Center for Behavioral Brain Sciences, D-39106 Magdeburg, Germany.

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http://dx.doi.org/10.1523/JNEUROSCI.5124-14.2015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6605345PMC
May 2015

A post GWAS association study of SNPs associated with cleft lip with or without cleft palate in submucous cleft palate.

Am J Med Genet A 2015 Mar;167A(3):670-3

Section of Phoniatrics and Pedaudiology, Department of Otolaryngology - Head and Neck Surgery, University of Ulm, Ulm, Germany.

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http://dx.doi.org/10.1002/ajmg.a.36891DOI Listing
March 2015

A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother.

J Neurol Sci 2014 Dec 2;347(1-2):352-5. Epub 2014 Oct 2.

Institute of Human Genetics, University of Ulm, Albert-Einstein Allee 11, 89081 Ulm, Germany; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246 Hamburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2014.09.046DOI Listing
December 2014

Carpal tunnel syndrome is associated with high fibrinogen and fibrinogen deposits.

Neurosurgery 2014 Sep;75(3):276-85; discussion 285

‡Department of Plastic Surgery, University Hospital Split, and University of Split School of Medicine, Split, Croatia; §University of Split School of Medicine, Split, Croatia; ¶Proteome Center Tübingen, Tübingen, Germany; ‖Institute of Human Genetics, University of Ulm, Ulm, Germany; #Department of Laboratory Diagnostics, University Hospital Split, and University of Split School of Medicine, Split, Croatia; **Department of Anatomy and Histology, University Hospital Split, and University of Split School of Medicine, Split, Croatia; ‡‡Department of Pathology, University Hospital Split, Split, Croatia; §§Unit for Family Practice, Split, Croatia.

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http://dx.doi.org/10.1227/NEU.0000000000000422DOI Listing
September 2014

Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.

Eur J Hum Genet 2014 Jun 16;22(6):726-33. Epub 2013 Oct 16.

1] Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, Berlin, Germany [2] Berlin-Brandenburg School for Regenerative Therapies (BSRT), Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1038/ejhg.2013.222DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4023204PMC
June 2014

Oculogyric crises induced by levodopa in PLA2G6 parkinsonism-dystonia.

Parkinsonism Relat Disord 2014 Feb 23;20(2):245-7. Epub 2013 Oct 23.

Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA.

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http://dx.doi.org/10.1016/j.parkreldis.2013.10.016DOI Listing
February 2014

Can lesions to the motor cortex induce amyotrophic lateral sclerosis?

J Neurol 2014 Feb 20;261(2):283-90. Epub 2013 Nov 20.

Department of Neurology, University of Ulm, Oberer Eselsberg 45, 89081, Ulm, Germany.

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http://dx.doi.org/10.1007/s00415-013-7185-7DOI Listing
February 2014

Exon skipping and severe childhood-onset obesity caused by a leptin receptor mutation.

Am J Med Genet A 2013 Oct 15;161A(10):2672-4. Epub 2013 Aug 15.

Institute of Human Genetics, University of Ulm, Ulm, Germany; Department of Biotechnology and Informatics, BUITEMS, Quetta, Pakistan.

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http://dx.doi.org/10.1002/ajmg.a.36125DOI Listing
October 2013

Genome-wide meta-analysis identifies new susceptibility loci for migraine.

Authors:
Verneri Anttila Bendik S Winsvold Padhraig Gormley Tobias Kurth Francesco Bettella George McMahon Mikko Kallela Rainer Malik Boukje de Vries Gisela Terwindt Sarah E Medland Unda Todt Wendy L McArdle Lydia Quaye Markku Koiranen M Arfan Ikram Terho Lehtimäki Anine H Stam Lannie Ligthart Juho Wedenoja Ian Dunham Benjamin M Neale Priit Palta Eija Hamalainen Markus Schürks Lynda M Rose Julie E Buring Paul M Ridker Stacy Steinberg Hreinn Stefansson Finnbogi Jakobsson Debbie A Lawlor David M Evans Susan M Ring Markus Färkkilä Ville Artto Mari A Kaunisto Tobias Freilinger Jean Schoenen Rune R Frants Nadine Pelzer Claudia M Weller Ronald Zielman Andrew C Heath Pamela A F Madden Grant W Montgomery Nicholas G Martin Guntram Borck Hartmut Göbel Axel Heinze Katja Heinze-Kuhn Frances M K Williams Anna-Liisa Hartikainen Anneli Pouta Joyce van den Ende Andre G Uitterlinden Albert Hofman Najaf Amin Jouke-Jan Hottenga Jacqueline M Vink Kauko Heikkilä Michael Alexander Bertram Muller-Myhsok Stefan Schreiber Thomas Meitinger Heinz Erich Wichmann Arpo Aromaa Johan G Eriksson Bryan Traynor Daniah Trabzuni Elizabeth Rossin Kasper Lage Suzanne B R Jacobs J Raphael Gibbs Ewan Birney Jaakko Kaprio Brenda W Penninx Dorret I Boomsma Cornelia van Duijn Olli Raitakari Marjo-Riitta Jarvelin John-Anker Zwart Lynn Cherkas David P Strachan Christian Kubisch Michel D Ferrari Arn M J M van den Maagdenberg Martin Dichgans Maija Wessman George Davey Smith Kari Stefansson Mark J Daly Dale R Nyholt Daniel Chasman Aarno Palotie

Nat Genet 2013 Aug 23;45(8):912-917. Epub 2013 Jun 23.

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.

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http://dx.doi.org/10.1038/ng.2676DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4041123PMC
August 2013

Rare hereditary diseases with defects in DNA-repair.

Eur J Dermatol 2012 Jul-Aug;22(4):443-55

Molecular Oncology and Aging, Department of Dermatology, Eberhard Karls University, Liebermeisterstrasse 25, D-72076 Tübingen, Germany.

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http://dx.doi.org/10.1684/ejd.2012.1654DOI Listing
February 2013

A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.

Eur J Med Genet 2012 Dec 30;55(12):727-31. Epub 2012 Aug 30.

Department of Biotechnology and Informatics, BUITEMS, Quetta, Pakistan.

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http://dx.doi.org/10.1016/j.ejmg.2012.08.010DOI Listing
December 2012