Steffen Uebe

Steffen Uebe

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Steffen Uebe

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Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability.

BMC Cancer 2019 May 10;19(1):435. Epub 2019 May 10.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany.

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http://dx.doi.org/10.1186/s12885-019-5633-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6511147PMC
May 2019

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.

Orphanet J Rare Dis 2019 02 11;14(1):38. Epub 2019 Feb 11.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany.

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http://dx.doi.org/10.1186/s13023-019-1020-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6371496PMC
February 2019

A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings.

Am J Med Genet A 2019 Jan 11;179(1):50-56. Epub 2018 Dec 11.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.60679
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http://dx.doi.org/10.1002/ajmg.a.60679DOI Listing
January 2019

Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia.

Genet Med 2019 Jan 4. Epub 2019 Jan 4.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.

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http://dx.doi.org/10.1038/s41436-018-0415-8DOI Listing
January 2019

Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu.

Am J Med Genet A 2018 Dec 18;176(12):2872-2876. Epub 2018 Nov 18.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.

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http://doi.wiley.com/10.1002/ajmg.a.40640
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http://dx.doi.org/10.1002/ajmg.a.40640DOI Listing
December 2018

Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome.

Eur J Med Genet 2018 Jul 31;61(7):363-368. Epub 2018 Jan 31.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2018.01.016DOI Listing
July 2018

T cells are influenced by a long non-coding RNA in the autoimmune associated PTPN2 locus.

J Autoimmun 2018 06 3;90:28-38. Epub 2018 Feb 3.

Rheumatology Unit, Department of Medicine, Karolinska University Hospital Solna, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1016/j.jaut.2018.01.003DOI Listing
June 2018

Integrative bioinformatics analysis characterizing the role of EDC3 in mRNA decay and its association to intellectual disability.

BMC Med Genomics 2018 04 23;11(1):41. Epub 2018 Apr 23.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Schwabachanlage 10, 91054, Erlangen, Germany.

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http://dx.doi.org/10.1186/s12920-018-0358-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5914069PMC
April 2018

High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder.

BMC Med Genomics 2017 11 28;10(1):68. Epub 2017 Nov 28.

Department of Child and Adolescent Psychiatry and Psychotherapy, University Hospital of Psychiatry Zurich, University of Zurich, Neumünsterallee 9, 8032, Zürich, Switzerland.

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http://dx.doi.org/10.1186/s12920-017-0299-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5704537PMC
November 2017

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.

Authors:
Tin Aung Mineo Ozaki Mei Chin Lee Ursula Schlötzer-Schrehardt Gudmar Thorleifsson Takanori Mizoguchi Robert P Igo Aravind Haripriya Susan E Williams Yury S Astakhov Andrew C Orr Kathryn P Burdon Satoko Nakano Kazuhiko Mori Khaled Abu-Amero Michael Hauser Zheng Li Gopalakrishnan Prakadeeswari Jessica N Cooke Bailey Alina Popa Cherecheanu Jae H Kang Sarah Nelson Ken Hayashi Shin-Ichi Manabe Shigeyasu Kazama Tomasz Zarnowski Kenji Inoue Murat Irkec Miguel Coca-Prados Kazuhisa Sugiyama Irma Järvelä Patricio Schlottmann S Fabian Lerner Hasnaa Lamari Yildirim Nilgün Mukharram Bikbov Ki Ho Park Soon Cheol Cha Kenji Yamashiro Juan C Zenteno Jost B Jonas Rajesh S Kumar Shamira A Perera Anita S Y Chan Nino Kobakhidze Ronnie George Lingam Vijaya Tan Do Deepak P Edward Lourdes de Juan Marcos Mohammad Pakravan Sasan Moghimi Ryuichi Ideta Daniella Bach-Holm Per Kappelgaard Barbara Wirostko Samuel Thomas Daniel Gaston Karen Bedard Wenda L Greer Zhenglin Yang Xueyi Chen Lulin Huang Jinghong Sang Hongyan Jia Liyun Jia Chunyan Qiao Hui Zhang Xuyang Liu Bowen Zhao Ya-Xing Wang Liang Xu Stéphanie Leruez Pascal Reynier George Chichua Sergo Tabagari Steffen Uebe Matthias Zenkel Daniel Berner Georg Mossböck Nicole Weisschuh Ursula Hoja Ulrich-Christoph Welge-Luessen Christian Mardin Panayiota Founti Anthi Chatzikyriakidou Theofanis Pappas Eleftherios Anastasopoulos Alexandros Lambropoulos Arkasubhra Ghosh Rohit Shetty Natalia Porporato Vijayan Saravanan Rengaraj Venkatesh Chandrashekaran Shivkumar Narendran Kalpana Sripriya Sarangapani Mozhgan R Kanavi Afsaneh Naderi Beni Shahin Yazdani Alireza Lashay Homa Naderifar Nassim Khatibi Antonio Fea Carlo Lavia Laura Dallorto Teresa Rolle Paolo Frezzotti Daniela Paoli Erika Salvi Paolo Manunta Yosai Mori Kazunori Miyata Tomomi Higashide Etsuo Chihara Satoshi Ishiko Akitoshi Yoshida Masahide Yanagi Yoshiaki Kiuchi Tsutomu Ohashi Toshiya Sakurai Takako Sugimoto Hideki Chuman Makoto Aihara Masaru Inatani Masahiro Miyake Norimoto Gotoh Fumihiko Matsuda Nagahisa Yoshimura Yoko Ikeda Morio Ueno Chie Sotozono Jin Wook Jeoung Min Sagong Kyu Hyung Park Jeeyun Ahn Marisa Cruz-Aguilar Sidi M Ezzouhairi Abderrahman Rafei Yaan Fun Chong Xiao Yu Ng Shuang Ru Goh Yueming Chen Victor H K Yong Muhammad Imran Khan Olusola O Olawoye Adeyinka O Ashaye Idakwo Ugbede Adeola Onakoya Nkiru Kizor-Akaraiwe Chaiwat Teekhasaenee Yanin Suwan Wasu Supakontanasan Suhanya Okeke Nkechi J Uche Ifeoma Asimadu Humaira Ayub Farah Akhtar Ewa Kosior-Jarecka Urszula Lukasik Ignacio Lischinsky Vania Castro Rodolfo Perez Grossmann Gordana Sunaric Megevand Sylvain Roy Edward Dervan Eoin Silke Aparna Rao Priti Sahay Pablo Fornero Osvaldo Cuello Delia Sivori Tamara Zompa Richard A Mills Emmanuelle Souzeau Paul Mitchell Jie Jin Wang Alex W Hewitt Michael Coote Jonathan G Crowston Sergei Y Astakhov Eugeny L Akopov Anton Emelyanov Vera Vysochinskaya Gyulli Kazakbaeva Rinat Fayzrakhmanov Saleh A Al-Obeidan Ohoud Owaidhah Leyla Ali Aljasim Balram Chowbay Jia Nee Foo Raphael Q Soh Kar Seng Sim Zhicheng Xie Augustine W O Cheong Shi Qi Mok Hui Meng Soo Xiao Yin Chen Su Qin Peh Khai Koon Heng Rahat Husain Su-Ling Ho Axel M Hillmer Ching-Yu Cheng Francisco A Escudero-Domínguez Rogelio González-Sarmiento Frederico Martinon-Torres Antonio Salas Kessara Pathanapitoon Linda Hansapinyo Boonsong Wanichwecharugruang Naris Kitnarong Anavaj Sakuntabhai Hip X Nguyn Giang T T Nguyn Trình V Nguyn Werner Zenz Alexander Binder Daniela S Klobassa Martin L Hibberd Sonia Davila Stefan Herms Markus M Nöthen Susanne Moebus Robyn M Rautenbach Ari Ziskind Trevor R Carmichael Michele Ramsay Lydia Álvarez Montserrat García Héctor González-Iglesias Pedro P Rodríguez-Calvo Luis Fernández-Vega Cueto Çilingir Oguz Nevbahar Tamcelik Eray Atalay Bilge Batu Dilek Aktas Burcu Kasım M Roy Wilson Anne L Coleman Yutao Liu Pratap Challa Leon Herndon Rachel W Kuchtey John Kuchtey Karen Curtin Craig J Chaya Alan Crandall Linda M Zangwill Tien Yin Wong Masakazu Nakano Shigeru Kinoshita Anneke I den Hollander Eija Vesti John H Fingert Richard K Lee Arthur J Sit Bradford J Shingleton Ningli Wang Daniele Cusi Raheel Qamar Peter Kraft Margaret A Pericak-Vance Soumya Raychaudhuri Steffen Heegaard Tero Kivelä André Reis Friedrich E Kruse Robert N Weinreb Louis R Pasquale Jonathan L Haines Unnur Thorsteinsdottir Fridbert Jonasson R Rand Allingham Dan Milea Robert Ritch Toshiaki Kubota Kei Tashiro Eranga N Vithana Shazia Micheal Fotis Topouzis Jamie E Craig Michael Dubina Periasamy Sundaresan Kari Stefansson Janey L Wiggs Francesca Pasutto Chiea Chuen Khor

Nat Genet 2017 07 29;49(7):993-1004. Epub 2017 May 29.

Singapore Eye Research Institute, Singapore.

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http://dx.doi.org/10.1038/ng.3875DOI Listing
July 2017

Fra-2 regulates B cell development by enhancing IRF4 and Foxo1 transcription.

J Exp Med 2017 Jul 31;214(7):2059-2071. Epub 2017 May 31.

Department of Internal Medicine 3 - Rheumatology and Immunology, Universitätsklinikum Erlangen, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany

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http://dx.doi.org/10.1084/jem.20160514DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5502419PMC
July 2017

Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study.

Authors:
Philip C Haycock Stephen Burgess Aayah Nounu Jie Zheng George N Okoli Jack Bowden Kaitlin Hazel Wade Nicholas J Timpson David M Evans Peter Willeit Abraham Aviv Tom R Gaunt Gibran Hemani Massimo Mangino Hayley Patricia Ellis Kathreena M Kurian Karen A Pooley Rosalind A Eeles Jeffrey E Lee Shenying Fang Wei V Chen Matthew H Law Lisa M Bowdler Mark M Iles Qiong Yang Bradford B Worrall Hugh Stephen Markus Rayjean J Hung Chris I Amos Amanda B Spurdle Deborah J Thompson Tracy A O'Mara Brian Wolpin Laufey Amundadottir Rachael Stolzenberg-Solomon Antonia Trichopoulou N Charlotte Onland-Moret Eiliv Lund Eric J Duell Federico Canzian Gianluca Severi Kim Overvad Marc J Gunter Rosario Tumino Ulrika Svenson Andre van Rij Annette F Baas Matthew J Bown Nilesh J Samani Femke N G van t'Hof Gerard Tromp Gregory T Jones Helena Kuivaniemi James R Elmore Mattias Johansson James Mckay Ghislaine Scelo Robert Carreras-Torres Valerie Gaborieau Paul Brennan Paige M Bracci Rachel E Neale Sara H Olson Steven Gallinger Donghui Li Gloria M Petersen Harvey A Risch Alison P Klein Jiali Han Christian C Abnet Neal D Freedman Philip R Taylor John M Maris Katja K Aben Lambertus A Kiemeney Sita H Vermeulen John K Wiencke Kyle M Walsh Margaret Wrensch Terri Rice Clare Turnbull Kevin Litchfield Lavinia Paternoster Marie Standl Gonçalo R Abecasis John Paul SanGiovanni Yong Li Vladan Mijatovic Yadav Sapkota Siew-Kee Low Krina T Zondervan Grant W Montgomery Dale R Nyholt David A van Heel Karen Hunt Dan E Arking Foram N Ashar Nona Sotoodehnia Daniel Woo Jonathan Rosand Mary E Comeau W Mark Brown Edwin K Silverman John E Hokanson Michael H Cho Jennie Hui Manuel A Ferreira Philip J Thompson Alanna C Morrison Janine F Felix Nicholas L Smith Angela M Christiano Lynn Petukhova Regina C Betz Xing Fan Xuejun Zhang Caihong Zhu Carl D Langefeld Susan D Thompson Feijie Wang Xu Lin David A Schwartz Tasha Fingerlin Jerome I Rotter Mary Frances Cotch Richard A Jensen Matthias Munz Henrik Dommisch Arne S Schaefer Fang Han Hanna M Ollila Ryan P Hillary Omar Albagha Stuart H Ralston Chenjie Zeng Wei Zheng Xiao-Ou Shu Andre Reis Steffen Uebe Ulrike Hüffmeier Yoshiya Kawamura Takeshi Otowa Tsukasa Sasaki Martin Lloyd Hibberd Sonia Davila Gang Xie Katherine Siminovitch Jin-Xin Bei Yi-Xin Zeng Asta Försti Bowang Chen Stefano Landi Andre Franke Annegret Fischer David Ellinghaus Carlos Flores Imre Noth Shwu-Fan Ma Jia Nee Foo Jianjun Liu Jong-Won Kim David G Cox Olivier Delattre Olivier Mirabeau Christine F Skibola Clara S Tang Merce Garcia-Barcelo Kai-Ping Chang Wen-Hui Su Yu-Sun Chang Nicholas G Martin Scott Gordon Tracey D Wade Chaeyoung Lee Michiaki Kubo Pei-Chieng Cha Yusuke Nakamura Daniel Levy Masayuki Kimura Shih-Jen Hwang Steven Hunt Tim Spector Nicole Soranzo Ani W Manichaikul R Graham Barr Bratati Kahali Elizabeth Speliotes Laura M Yerges-Armstrong Ching-Yu Cheng Jost B Jonas Tien Yin Wong Isabella Fogh Kuang Lin John F Powell Kenneth Rice Caroline L Relton Richard M Martin George Davey Smith

JAMA Oncol 2017 May;3(5):636-651

MRC Integrative Epidemiology Unit, University of Bristol, Bristol, England2School of Social and Community Medicine, University of Bristol, Bristol, England.

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http://dx.doi.org/10.1001/jamaoncol.2016.5945DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5638008PMC
May 2017

Transcriptome sequencing reveals as a novel target gene of the terminal system in the red flour beetle .

Development 2017 04 23;144(7):1339-1349. Epub 2017 Feb 23.

Department of Biology, Developmental Biology Unit, Friedrich-Alexander-University Erlangen-Nuremberg, Staudtstrasse 5, Erlangen 91058, Germany

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http://dx.doi.org/10.1242/dev.136853DOI Listing
April 2017

Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly.

Am J Hum Genet 2017 Mar;100(3):555-561

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany; Institute of Human Genetics, University Medical Center Leipzig, 04103 Leipzig, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.01.032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5339287PMC
March 2017

DNA methylation mediates genotype and smoking interaction in the development of anti-citrullinated peptide antibody-positive rheumatoid arthritis.

Arthritis Res Ther 2017 03 29;19(1):71. Epub 2017 Mar 29.

Department of Biochemistry and Molecular Biology, The Ministry of Education Key Laboratory of Metabolism and Molecular Medicine, School of Basic Medical Sciences, Fudan University, West Building 13, 130 Dong An Road, Shanghai, China.

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http://dx.doi.org/10.1186/s13075-017-1276-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5372280PMC
March 2017

Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.

Int J Cancer 2017 Jan 23;140(1):95-102. Epub 2016 Sep 23.

Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.

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http://dx.doi.org/10.1002/ijc.30428DOI Listing
January 2017

Choline transporter-like1 (CHER1) is crucial for plasmodesmata maturation in Arabidopsis thaliana.

Plant J 2017 01 17;89(2):394-406. Epub 2017 Jan 17.

Division of Biochemistry, Department of Biology, Friedrich-Alexander University Erlangen-Nuremberg, Staudtstraße 5, D-91058, Erlangen, Germany.

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http://dx.doi.org/10.1111/tpj.13393DOI Listing
January 2017

A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica.

JIMD Rep 2017 28;36:59-66. Epub 2017 Jan 28.

Section of Genetics and Biotechnology, School of Biology, University of Costa Rica, 11501-2060, San Jose, Costa Rica.

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http://dx.doi.org/10.1007/8904_2016_40DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5680285PMC
January 2017

Replication of a distinct psoriatic arthritis risk variant at the IL23R locus.

Ann Rheum Dis 2016 07 25;75(7):1417-8. Epub 2016 Mar 25.

Arthritis Research UK Centre for Genetics and Genomics, Centre for Musculoskeletal Research, The University of Manchester, UK NIHR Manchester Musculoskeletal Biomedical Research Unit, Central Manchester Foundation Trust and University of Manchester, Manchester Academy of Health Sciences, Manchester, UK The Kellgren Centre for Rheumatology, Central Manchester Foundation Trust, NIHR Manchester Biomedical Research Centre, Manchester, UK.

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http://dx.doi.org/10.1136/annrheumdis-2016-209290DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4941176PMC
July 2016

Novel loci for non-syndromic coarctation of the aorta in sporadic and familial cases.

PLoS One 2015 18;10(5):e0126873. Epub 2015 May 18.

Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Department of Pediatric Cardiology, Loschgestraße 15, 91054 Erlangen, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0126873PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4436177PMC
April 2016

PTPN22 is associated with susceptibility to psoriatic arthritis but not psoriasis: evidence for a further PsA-specific risk locus.

Ann Rheum Dis 2015 Oct 28;74(10):1882-5. Epub 2015 Apr 28.

Arthritis Research UK Centre for Epidemiology, Centre for Musculoskeletal Research, Institute for Inflammation and Repair, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK NIHR Manchester Musculoskeletal Biomedical Research Unit, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK The Kellgren Centre for Rheumatology, Central Manchester Foundation Trust, NIHR Manchester Biomedical Research Centre, Manchester, UK.

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http://dx.doi.org/10.1136/annrheumdis-2014-207187DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4602265PMC
October 2015

Recurrent null mutation in SPG20 leads to Troyer syndrome.

Mol Cell Probes 2015 Oct 20;29(5):315-8. Epub 2015 May 20.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Centogene, Rostock, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.mcp.2015.05.006DOI Listing
October 2015

Chromatin-Remodeling-Factor ARID1B Represses Wnt/β-Catenin Signaling.

Am J Hum Genet 2015 Sep;97(3):445-56

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany; Nikolaus-Fiebiger-Center for Molecular Medicine, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.

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http://dx.doi.org/10.1016/j.ajhg.2015.08.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4564991PMC
September 2015

Corrigendum: a common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.

Authors:
Tin Aung Mineo Ozaki Takanori Mizoguchi R Rand Allingham Zheng Li Aravind Haripriya Satoko Nakano Steffen Uebe Jeffrey M Harder Anita S Y Chan Mei Chin Lee Kathryn P Burdon Yury S Astakhov Khaled K Abu-Amero Juan C Zenteno Yildirim Nilgün Tomasz Zarnowski Mohammad Pakravan Leen Abu Safieh Liyun Jia Ya Xing Wang Susan Williams Daniela Paoli Patricio G Schlottmann Lulin Huang Kar Seng Sim Jia Nee Foo Masakazu Nakano Yoko Ikeda Rajesh S Kumar Morio Ueno Shin-Ichi Manabe Ken Hayashi Shigeyasu Kazama Ryuichi Ideta Yosai Mori Kazunori Miyata Kazuhisa Sugiyama Tomomi Higashide Etsuo Chihara Kenji Inoue Satoshi Ishiko Akitoshi Yoshida Masahide Yanagi Yoshiaki Kiuchi Makoto Aihara Tsutomu Ohashi Toshiya Sakurai Takako Sugimoto Hideki Chuman Fumihiko Matsuda Kenji Yamashiro Norimoto Gotoh Masahiro Miyake Sergei Y Astakhov Essam A Osman Saleh A Al-Obeidan Ohoud Owaidhah Leyla Al-Jasim Sami Al Shahwan Rhys A Fogarty Paul Leo Yaz Yetkin Çilingir Oğuz Mozhgan Rezaei Kanavi Afsaneh Naderi Beni Shahin Yazdani Evgeny L Akopov Kai-Yee Toh Gareth R Howell Andrew C Orr Yufen Goh Wee Yang Meah Su Qin Peh Ewa Kosior-Jarecka Urszula Lukasik Mandy Krumbiegel Eranga N Vithana Tien Yin Wong Yutao Liu Allison E Ashley Koch Pratap Challa Robyn M Rautenbach David A Mackey Alex W Hewitt Paul Mitchell Jie Jin Wang Ari Ziskind Trevor Carmichael Rangappa Ramakrishnan Kalpana Narendran Rangaraj Venkatesh Saravanan Vijayan Peiquan Zhao Xueyi Chen Dalia Guadarrama-Vallejo Ching Yu Cheng Shamira A Perera Rahat Husain Su-Ling Ho Ulrich-Christoph Welge-Luessen Christian Mardin Ursula Schloetzer-Schrehardt Axel M Hillmer Stefan Herms Susanne Moebus Markus M Nöthen Nicole Weisschuh Rohit Shetty Arkasubhra Ghosh Yik Ying Teo Matthew A Brown Ignacio Lischinsky Jonathan G Crowston Michae Coote Bowen Zhao Jinghong Sang Nihong Zhang Qisheng You Vera Vysochinskaya Panayiota Founti Anthoula Chatzikyriakidou Alexandros Lambropoulos Eleftherios Anastasopoulos Anne L Coleman M Roy Wilson Douglas J Rhee Jae Hee Kang Inna May-Bolchakova Steffen Heegaard Kazuhiko Mori Wallace L M Alward Jost B Jonas Liang Xu Jeffrey M Liebmann Balram Chowbay Elke Schaeffeler Matthias Schwab Fabian Lerner Ningli Wang Zhenglin Yang Paolo Frezzotti Shigeru Kinoshita John H Fingert Masaru Inatani Kei Tashiro André Reis Deepak P Edward Louis R Pasquale Toshiaki Kubota Janey L Wiggs Francesca Pasutto Fotis Topouzis Michael Dubina Jamie E Craig Nagahisa Yoshimura Periasamy Sundaresan Simon W M John Robert Ritch Michael A Hauser Chiea-Chuen Khor

Nat Genet 2015 Jun;47(6):689

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http://dx.doi.org/10.1038/ng0615-689cDOI Listing
June 2015

A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.

Authors:
Tin Aung Mineo Ozaki Takanori Mizoguchi R Rand Allingham Zheng Li Aravind Haripriya Satoko Nakano Steffen Uebe Jeffrey M Harder Anita S Y Chan Mei Chin Lee Kathryn P Burdon Yury S Astakhov Khaled K Abu-Amero Juan C Zenteno Yildirim Nilgün Tomasz Zarnowski Mohammad Pakravan Leen Abu Safieh Liyun Jia Ya Xing Wang Susan Williams Daniela Paoli Patricio G Schlottmann Lulin Huang Kar Seng Sim Jia Nee Foo Masakazu Nakano Yoko Ikeda Rajesh S Kumar Morio Ueno Shin-ichi Manabe Ken Hayashi Shigeyasu Kazama Ryuichi Ideta Yosai Mori Kazunori Miyata Kazuhisa Sugiyama Tomomi Higashide Etsuo Chihara Kenji Inoue Satoshi Ishiko Akitoshi Yoshida Masahide Yanagi Yoshiaki Kiuchi Makoto Aihara Tsutomu Ohashi Toshiya Sakurai Takako Sugimoto Hideki Chuman Fumihiko Matsuda Kenji Yamashiro Norimoto Gotoh Masahiro Miyake Sergei Y Astakhov Essam A Osman Saleh A Al-Obeidan Ohoud Owaidhah Leyla Al-Jasim Sami Al Shahwan Rhys A Fogarty Paul Leo Yaz Yetkin Çilingir Oğuz Mozhgan Rezaei Kanavi Afsaneh Nederi Beni Shahin Yazdani Evgeny L Akopov Kai-Yee Toh Gareth R Howell Andrew C Orr Yufen Goh Wee Yang Meah Su Qin Peh Ewa Kosior-Jarecka Urszula Lukasik Mandy Krumbiegel Eranga N Vithana Tien Yin Wong Yutao Liu Allison E Ashley Koch Pratap Challa Robyn M Rautenbach David A Mackey Alex W Hewitt Paul Mitchell Jie Jin Wang Ari Ziskind Trevor Carmichael Rangappa Ramakrishnan Kalpana Narendran Rangaraj Venkatesh Saravanan Vijayan Peiquan Zhao Xueyi Chen Dalia Guadarrama-Vallejo Ching Yu Cheng Shamira A Perera Rahat Husain Su-Ling Ho Ulrich-Christoph Welge-Luessen Christian Mardin Ursula Schloetzer-Schrehardt Axel M Hillmer Stefan Herms Susanne Moebus Markus M Nöthen Nicole Weisschuh Rohit Shetty Arkasubhra Ghosh Yik Ying Teo Matthew A Brown Ignacio Lischinsky Jonathan G Crowston Michael Coote Bowen Zhao Jinghong Sang Nihong Zhang Qisheng You Vera Vysochinskaya Panayiota Founti Anthoula Chatzikyriakidou Alexandros Lambropoulos Eleftherios Anastasopoulos Anne L Coleman M Roy Wilson Douglas J Rhee Jae Hee Kang Inna May-Bolchakova Steffen Heegaard Kazuhiko Mori Wallace L M Alward Jost B Jonas Liang Xu Jeffrey M Liebmann Balram Chowbay Elke Schaeffeler Matthias Schwab Fabian Lerner Ningli Wang Zhenglin Yang Paolo Frezzotti Shigeru Kinoshita John H Fingert Masaru Inatani Kei Tashiro André Reis Deepak P Edward Louis R Pasquale Toshiaki Kubota Janey L Wiggs Francesca Pasutto Fotis Topouzis Michael Dubina Jamie E Craig Nagahisa Yoshimura Periasamy Sundaresan Simon W M John Robert Ritch Michael A Hauser Chiea-Chuen Khor

Nat Genet 2015 Apr 23;47(4):387-92. Epub 2015 Feb 23.

1] Singapore Eye Research Institute, Singapore. [2] Department of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore. [3] Division of Human Genetics, Genome Institute of Singapore, Singapore.

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http://dx.doi.org/10.1038/ng.3226DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4605818PMC
April 2015

Dense genotyping of immune-related susceptibility loci reveals new insights into the genetics of psoriatic arthritis.

Nat Commun 2015 Feb 5;6:6046. Epub 2015 Feb 5.

1] Arthritis Research UK Centre for Genetics and Genomics, The University of Manchester, Manchester M13 9PT, UK [2] NIHR Manchester Musculoskeletal Biomedical Research Unit, Central Manchester Foundation Trust and University of Manchester, Manchester Academy of Health Sciences, Manchester M13 9WU, UK.

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http://dx.doi.org/10.1038/ncomms7046DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4327416PMC
February 2015

Altered GPM6A/M6 dosage impairs cognition and causes phenotypes responsive to cholesterol in human and Drosophila.

Hum Mutat 2014 Dec;35(12):1495-505

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.

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http://dx.doi.org/10.1002/humu.22697DOI Listing
December 2014

HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders.

Am J Med Genet A 2014 Dec 23;164A(12):3162-9. Epub 2014 Sep 23.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.36766DOI Listing
December 2014

NDST1 missense mutations in autosomal recessive intellectual disability.

Am J Med Genet A 2014 Nov 14;164A(11):2753-63. Epub 2014 Aug 14.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.36723DOI Listing
November 2014

Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin.

Kidney Int 2014 Sep 26;86(3):589-99. Epub 2014 Mar 26.

1] Department of Nephrology and Hypertension, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany [2] Nikolaus-Fiebiger-Center of Molecular Medicine, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.

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https://linkinghub.elsevier.com/retrieve/pii/S00852538153032
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http://dx.doi.org/10.1038/ki.2014.72DOI Listing
September 2014

Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation.

Eur J Med Genet 2013 Nov 28;56(11):599-602. Epub 2013 Sep 28.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Schwabachanlage 10, 91054 Erlangen, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2013.09.010DOI Listing
November 2013

Biallelic SEMA3A defects cause a novel type of syndromic short stature.

Am J Med Genet A 2013 Nov 3;161A(11):2880-9. Epub 2013 Oct 3.

Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.36250DOI Listing
November 2013

Rare copy number variants are a common cause of short stature.

PLoS Genet 2013 14;9(3):e1003365. Epub 2013 Mar 14.

Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany.

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http://dx.doi.org/10.1371/journal.pgen.1003365DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3597495PMC
June 2013

Identification of low-frequency TRAF3IP2 coding variants in psoriatic arthritis patients and functional characterization.

Arthritis Res Ther 2012 Apr 18;14(2):R84. Epub 2012 Apr 18.

Divisions of Rheumatology, Department of Internal Medicine II, Johann Wolfgang Goethe University, Theodor-Stern-Kai 7, 60590 Frankfurt am Main, Germany.

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http://dx.doi.org/10.1186/ar3807DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3446458PMC
April 2012

GPFrontend and GPGraphics: graphical analysis tools for genetic association studies.

BMC Bioinformatics 2010 Sep 21;11:472. Epub 2010 Sep 21.

Institute of Human Genetics, University of Erlangen-Nuremberg, Schwabachanlage 10, 91054 Erlangen, Germany.

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http://dx.doi.org/10.1186/1471-2105-11-472DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2949897PMC
September 2010

Lack of genetic association of neutral endopeptidase (NEP) with complex regional pain syndrome (CRPS).

Neurosci Lett 2010 Mar 25;472(1):19-23. Epub 2010 Jan 25.

Institute of Human Genetics, University Hospital Erlangen-Nuremberg, Schwabachanlage 10, 91054 Erlangen, Germany.

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http://dx.doi.org/10.1016/j.neulet.2010.01.044DOI Listing
March 2010

Identification of a novel mutation in WFS1 in a family affected by low-frequency hearing impairment.

Mutat Res 2003 Apr;525(1-2):121-4

Center for Human Genetics, Philipps-University Marburg, Bahnhofstr 7, Marburg D-35033, Germany.

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http://dx.doi.org/10.1016/s0027-5107(02)00265-8DOI Listing
April 2003