Bernhard H F Weber

Bernhard H F Weber

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Bernhard H F Weber

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On the differences between mega- and meta-imputation and analysis exemplified on the genetics of age-related macular degeneration.

Genet Epidemiol 2019 Jul 23;43(5):559-576. Epub 2019 Apr 23.

Department of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.

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http://dx.doi.org/10.1002/gepi.22204DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6619271PMC
July 2019

The Y227N mutation affects bestrophin-1 protein stability and impairs sperm function in a mouse model of Best vitelliform macular dystrophy.

Biol Open 2019 Jul 2;8(7). Epub 2019 Jul 2.

Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany

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http://dx.doi.org/10.1242/bio.041335DOI Listing
July 2019

Pleiotropic Effects of Risk Factors in Age-Related Macular Degeneration and Seemingly Unrelated Complex Diseases.

Adv Exp Med Biol 2018 ;1074:247-255

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

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http://dx.doi.org/10.1007/978-3-319-75402-4_30DOI Listing
May 2019

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Authors:
Michael T Parsons Emma Tudini Hongyan Li Eric Hahnen Barbara Wappenschmidt Lidia Feliubadaló Cora M Aalfs Simona Agata Kristiina Aittomäki Elisa Alducci María Concepción Alonso-Cerezo Norbert Arnold Bernd Auber Rachel Austin Jacopo Azzollini Judith Balmaña Elena Barbieri Claus R Bartram Ana Blanco Britta Blümcke Sandra Bonache Bernardo Bonanni Åke Borg Beatrice Bortesi Joan Brunet Carla Bruzzone Karolin Bucksch Giulia Cagnoli Trinidad Caldés Almuth Caliebe Maria A Caligo Mariarosaria Calvello Gabriele L Capone Sandrine M Caputo Ileana Carnevali Estela Carrasco Virginie Caux-Moncoutier Pietro Cavalli Giulia Cini Edward M Clarke Paola Concolino Elisa J Cops Laura Cortesi Fergus J Couch Esther Darder Miguel de la Hoya Michael Dean Irmgard Debatin Jesús Del Valle Capucine Delnatte Nicolas Derive Orland Diez Nina Ditsch Susan M Domchek Véronique Dutrannoy Diana M Eccles Hans Ehrencrona Ute Enders D Gareth Evans Ulrike Faust Ute Felbor Irene Feroce Miriam Fine Henrique C R Galvao Gaetana Gambino Andrea Gehrig Francesca Gensini Anne-Marie Gerdes Aldo Germani Jutta Giesecke Viviana Gismondi Carolina Gómez Encarna B Gómez Garcia Sara González Elia Grau Sabine Grill Eva Gross Aliana Guerrieri-Gonzaga Marine Guillaud-Bataille Sara Gutiérrez-Enríquez Thomas Haaf Karl Hackmann Thomas V O Hansen Marion Harris Jan Hauke Tilman Heinrich Heide Hellebrand Karen N Herold Ellen Honisch Judit Horvath Claude Houdayer Verena Hübbel Silvia Iglesias Angel Izquierdo Paul A James Linda A M Janssen Udo Jeschke Silke Kaulfuß Katharina Keupp Marion Kiechle Alexandra Kölbl Sophie Krieger Torben A Kruse Anders Kvist Fiona Lalloo Mirjam Larsen Vanessa L Lattimore Charlotte Lautrup Susanne Ledig Elena Leinert Alexandra L Lewis Joanna Lim Markus Loeffler Adrià López-Fernández Emanuela Lucci-Cordisco Nicolai Maass Siranoush Manoukian Monica Marabelli Laura Matricardi Alfons Meindl Rodrigo D Michelli Setareh Moghadasi Alejandro Moles-Fernández Marco Montagna Gemma Montalban Alvaro N Monteiro Eva Montes Luigi Mori Lidia Moserle Clemens R Müller Christoph Mundhenke Nadia Naldi Katherine L Nathanson Matilde Navarro Heli Nevanlinna Cassandra B Nichols Dieter Niederacher Henriette R Nielsen Kai-Ren Ong Nicholas Pachter Edenir I Palmero Laura Papi Inge Sokilde Pedersen Bernard Peissel Pedro Pérez-Segura Katharina Pfeifer Marta Pineda Esther Pohl-Rescigno Nicola K Poplawski Berardino Porfirio Anne S Quante Juliane Ramser Rui M Reis Françoise Revillion Kerstin Rhiem Barbara Riboli Julia Ritter Daniela Rivera Paula Rofes Andreas Rump Monica Salinas Ana María Sánchez de Abajo Gunnar Schmidt Ulrike Schoenwiese Jochen Seggewiß Ares Solanes Doris Steinemann Mathias Stiller Dominique Stoppa-Lyonnet Kelly J Sullivan Rachel Susman Christian Sutter Sean V Tavtigian Soo H Teo Alex Teulé Mads Thomassen Maria Grazia Tibiletti Silvia Tognazzo Amanda E Toland Eva Tornero Therese Törngren Sara Torres-Esquius Angela Toss Alison H Trainer Christi J van Asperen Marion T van Mackelenbergh Liliana Varesco Gardenia Vargas-Parra Raymonda Varon Ana Vega Ángela Velasco Anne-Sophie Vesper Alessandra Viel Maaike P G Vreeswijk Sebastian A Wagner Anke Waha Logan C Walker Rhiannon J Walters Shan Wang-Gohrke Bernhard H F Weber Wilko Weichert Kerstin Wieland Lisa Wiesmüller Isabell Witzel Achim Wöckel Emma R Woodward Silke Zachariae Valentina Zampiga Christine Zeder-Göß Conxi Lázaro Arcangela De Nicolo Paolo Radice Christoph Engel Rita K Schmutzler David E Goldgar Amanda B Spurdle

Hum Mutat 2019 May 27. Epub 2019 May 27.

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1002/humu.23818DOI Listing
May 2019

Insights into the loss of the Y chromosome with age in control individuals and in patients with age-related macular degeneration using genotyping microarray data.

Hum Genet 2019 May 27. Epub 2019 May 27.

Institut Jacques Monod, Université Paris Diderot, 15 rue Hélène Brion, 75013, Paris, France.

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http://dx.doi.org/10.1007/s00439-019-02029-1DOI Listing
May 2019

Retinal Layer Thicknesses in Early Age-Related Macular Degeneration: Results From the German AugUR Study.

Invest Ophthalmol Vis Sci 2019 Apr;60(5):1581-1594

Department of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.

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http://dx.doi.org/10.1167/iovs.18-25332DOI Listing
April 2019

The agonistic TSPO ligand XBD173 attenuates the glial response thereby protecting inner retinal neurons in a murine model of retinal ischemia.

J Neuroinflammation 2019 Feb 18;16(1):43. Epub 2019 Feb 18.

Institute of Human Genetics, University of Regensburg, Franz-Josef-Strauß-Allee 11, 93053, Regensburg, Germany.

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http://dx.doi.org/10.1186/s12974-019-1424-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6378755PMC
February 2019

Pathomechanism of mutated and secreted retinoschisin in X-linked juvenile retinoschisis.

Exp Eye Res 2018 12 21;177:23-34. Epub 2018 Jul 21.

Institute of Human Genetics, University of Regensburg, Franz-Josef-Strauss-Allee 11, 93053 Regensburg, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00144835183016
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http://dx.doi.org/10.1016/j.exer.2018.07.021DOI Listing
December 2018

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Authors:
Timothy R Rebbeck Tara M Friebel Eitan Friedman Ute Hamann Dezheng Huo Ava Kwong Edith Olah Olufunmilayo I Olopade Angela R Solano Soo-Hwang Teo Mads Thomassen Jeffrey N Weitzel T L Chan Fergus J Couch David E Goldgar Torben A Kruse Edenir Inêz Palmero Sue Kyung Park Diana Torres Elizabeth J van Rensburg Lesley McGuffog Michael T Parsons Goska Leslie Cora M Aalfs Julio Abugattas Julian Adlard Simona Agata Kristiina Aittomäki Lesley Andrews Irene L Andrulis Adalgeir Arason Norbert Arnold Banu K Arun Ella Asseryanis Leo Auerbach Jacopo Azzollini Judith Balmaña Monica Barile Rosa B Barkardottir Daniel Barrowdale Javier Benitez Andreas Berger Raanan Berger Amie M Blanco Kathleen R Blazer Marinus J Blok Valérie Bonadona Bernardo Bonanni Angela R Bradbury Carole Brewer Bruno Buecher Saundra S Buys Trinidad Caldes Almuth Caliebe Maria A Caligo Ian Campbell Sandrine M Caputo Jocelyne Chiquette Wendy K Chung Kathleen B M Claes J Margriet Collée Jackie Cook Rosemarie Davidson Miguel de la Hoya Kim De Leeneer Antoine de Pauw Capucine Delnatte Orland Diez Yuan Chun Ding Nina Ditsch Susan M Domchek Cecilia M Dorfling Carolina Velazquez Bernd Dworniczak Jacqueline Eason Douglas F Easton Ros Eeles Hans Ehrencrona Bent Ejlertsen Christoph Engel Stefanie Engert D Gareth Evans Laurence Faivre Lidia Feliubadaló Sandra Fert Ferrer Lenka Foretova Jeffrey Fowler Debra Frost Henrique C R Galvão Patricia A Ganz Judy Garber Marion Gauthier-Villars Andrea Gehrig Anne-Marie Gerdes Paul Gesta Giuseppe Giannini Sophie Giraud Gord Glendon Andrew K Godwin Mark H Greene Jacek Gronwald Angelica Gutierrez-Barrera Eric Hahnen Jan Hauke Alex Henderson Julia Hentschel Frans B L Hogervorst Ellen Honisch Evgeny N Imyanitov Claudine Isaacs Louise Izatt Angel Izquierdo Anna Jakubowska Paul James Ramunas Janavicius Uffe Birk Jensen Esther M John Joseph Vijai Katarzyna Kaczmarek Beth Y Karlan Karin Kast KConFab Investigators Sung-Won Kim Irene Konstantopoulou Jacob Korach Yael Laitman Adriana Lasa Christine Lasset Conxi Lázaro Annette Lee Min Hyuk Lee Jenny Lester Fabienne Lesueur Annelie Liljegren Noralane M Lindor Michel Longy Jennifer T Loud Karen H Lu Jan Lubinski Eva Machackova Siranoush Manoukian Véronique Mari Cristina Martínez-Bouzas Zoltan Matrai Noura Mebirouk Hanne E J Meijers-Heijboer Alfons Meindl Arjen R Mensenkamp Ugnius Mickys Austin Miller Marco Montagna Kirsten B Moysich Anna Marie Mulligan Jacob Musinsky Susan L Neuhausen Heli Nevanlinna Joanne Ngeow Huu Phuc Nguyen Dieter Niederacher Henriette Roed Nielsen Finn Cilius Nielsen Robert L Nussbaum Kenneth Offit Anna Öfverholm Kai-Ren Ong Ana Osorio Laura Papi Janos Papp Barbara Pasini Inge Sokilde Pedersen Ana Peixoto Nina Peruga Paolo Peterlongo Esther Pohl Nisha Pradhan Karolina Prajzendanc Fabienne Prieur Pascal Pujol Paolo Radice Susan J Ramus Johanna Rantala Muhammad Usman Rashid Kerstin Rhiem Mark Robson Gustavo C Rodriguez Mark T Rogers Vilius Rudaitis Ane Y Schmidt Rita Katharina Schmutzler Leigha Senter Payal D Shah Priyanka Sharma Lucy E Side Jacques Simard Christian F Singer Anne-Bine Skytte Thomas P Slavin Katie Snape Hagay Sobol Melissa Southey Linda Steele Doris Steinemann Grzegorz Sukiennicki Christian Sutter Csilla I Szabo Yen Y Tan Manuel R Teixeira Mary Beth Terry Alex Teulé Abigail Thomas Darcy L Thull Marc Tischkowitz Silvia Tognazzo Amanda Ewart Toland Sabine Topka Alison H Trainer Nadine Tung Christi J van Asperen Annemieke H van der Hout Lizet E van der Kolk Rob B van der Luijt Mattias Van Heetvelde Liliana Varesco Raymonda Varon-Mateeva Ana Vega Cynthia Villarreal-Garza Anna von Wachenfeldt Lisa Walker Shan Wang-Gohrke Barbara Wappenschmidt Bernhard H F Weber Drakoulis Yannoukakos Sook-Yee Yoon Cristina Zanzottera Jamal Zidan Kristin K Zorn Christina G Hutten Selkirk Peter J Hulick Georgia Chenevix-Trench Amanda B Spurdle Antonis C Antoniou Katherine L Nathanson

Hum Mutat 2018 05 12;39(5):593-620. Epub 2018 Mar 12.

Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA.

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http://dx.doi.org/10.1002/humu.23406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5903938PMC
May 2018

[Personalized Ophthalmology - Induced Pluripotent Stem Cells for In Vitro Modelling of Retinal Degenerative Diseases].

Klin Monbl Augenheilkd 2018 Mar 16;235(3):301-308. Epub 2018 Feb 16.

Institut für Humangenetik, Universität Regensburg.

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http://dx.doi.org/10.1055/s-0043-125081DOI Listing
March 2018

Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations.

Ophthalmic Genet 2017 Jul-Aug;38(4):340-344. Epub 2017 Jan 17.

c Institut für Humangenetik , Universität Regensburg , Regensburg , Germany.

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https://www.tandfonline.com/doi/full/10.1080/13816810.2016.1
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http://dx.doi.org/10.1080/13816810.2016.1227459DOI Listing
December 2017

Retinoschisin is linked to retinal Na/K-ATPase signaling and localization.

Mol Biol Cell 2017 Aug 14;28(16):2178-2189. Epub 2017 Jun 14.

Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany

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http://dx.doi.org/10.1091/mbc.E17-01-0064DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5531734PMC
August 2017

The X-linked juvenile retinoschisis protein retinoschisin is a novel regulator of mitogen-activated protein kinase signalling and apoptosis in the retina.

J Cell Mol Med 2017 04 20;21(4):768-780. Epub 2016 Dec 20.

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

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http://dx.doi.org/10.1111/jcmm.13019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5345684PMC
April 2017

Twenty-year follow-up of a familial case of PTH1R-associated primary failure of tooth eruption.

Am J Orthod Dentofacial Orthop 2017 Mar;151(3):598-606

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

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http://dx.doi.org/10.1016/j.ajodo.2016.09.012DOI Listing
March 2017

Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits.

Genome Med 2017 03 27;9(1):29. Epub 2017 Mar 27.

Institute of Human Genetics, University of Regensburg, Franz-Josef-Strauss-Allee 11, 93053, Regensburg, Germany.

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http://dx.doi.org/10.1186/s13073-017-0418-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5368911PMC
March 2017

An Eye on Age-Related Macular Degeneration: The Role of MicroRNAs in Disease Pathology.

Mol Diagn Ther 2017 02;21(1):31-43

Institute of Human Genetics, University of Regensburg, Franz-Josef-Strauss-Allee 11, 93053, Regensburg, Germany.

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http://dx.doi.org/10.1007/s40291-016-0234-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5250647PMC
February 2017

Recombinant Haplotypes Narrow the ARMS2/HTRA1 Association Signal for Age-Related Macular Degeneration.

Genetics 2017 02 22;205(2):919-924. Epub 2016 Nov 22.

Institute for Human Genetics, University of Regensburg, D-93053 Regensburg, Germany

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http://dx.doi.org/10.1534/genetics.116.195966DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5289859PMC
February 2017

Progression of Late-Onset Stargardt Disease.

Invest Ophthalmol Vis Sci 2016 Oct;57(13):5186-5191

Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1167/iovs.16-19833DOI Listing
October 2016

Long-Term Macular Changes in the First Proband of Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Due to a Newly Identified Mutation in BEST1.

Ophthalmic Genet 2016 5;37(1):102-8. Epub 2016 Feb 5.

a Wilmer Eye Institute, Johns Hopkins Hospital , Baltimore , MD , USA .

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http://dx.doi.org/10.3109/13816810.2015.1039893DOI Listing
September 2016

In-Depth Functional Diagnostics of Mouse Models by Single-Flash and Flicker Electroretinograms without Adapting Background Illumination.

Adv Exp Med Biol 2016 ;854:619-25

Division of Ocular Neurodegeneration, Institute for Ophthalmic Research, Centre for Ophthalmology, Eberhard Karls University, Tübingen, Germany.

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http://link.springer.com/10.1007/978-3-319-17121-0_82
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http://dx.doi.org/10.1007/978-3-319-17121-0_82DOI Listing
April 2016

Differentiation of murine models of "negative ERG" by single and repetitive light stimuli.

Doc Ophthalmol 2016 Apr 21;132(2):101-9. Epub 2016 Mar 21.

Division of Ocular Neurodegeneration, Institute for Ophthalmic Research, Centre for Ophthalmology, Eberhard Karls University, Schleichstr. 4/3, 72076, Tübingen, Germany.

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http://dx.doi.org/10.1007/s10633-016-9534-1DOI Listing
April 2016

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

Authors:
Lars G Fritsche Wilmar Igl Jessica N Cooke Bailey Felix Grassmann Sebanti Sengupta Jennifer L Bragg-Gresham Kathryn P Burdon Scott J Hebbring Cindy Wen Mathias Gorski Ivana K Kim David Cho Donald Zack Eric Souied Hendrik P N Scholl Elisa Bala Kristine E Lee David J Hunter Rebecca J Sardell Paul Mitchell Joanna E Merriam Valentina Cipriani Joshua D Hoffman Tina Schick Yara T E Lechanteur Robyn H Guymer Matthew P Johnson Yingda Jiang Chloe M Stanton Gabriëlle H S Buitendijk Xiaowei Zhan Alan M Kwong Alexis Boleda Matthew Brooks Linn Gieser Rinki Ratnapriya Kari E Branham Johanna R Foerster John R Heckenlively Mohammad I Othman Brendan J Vote Helena Hai Liang Emmanuelle Souzeau Ian L McAllister Timothy Isaacs Janette Hall Stewart Lake David A Mackey Ian J Constable Jamie E Craig Terrie E Kitchner Zhenglin Yang Zhiguang Su Hongrong Luo Daniel Chen Hong Ouyang Ken Flagg Danni Lin Guanping Mao Henry Ferreyra Klaus Stark Claudia N von Strachwitz Armin Wolf Caroline Brandl Guenther Rudolph Matthias Olden Margaux A Morrison Denise J Morgan Matthew Schu Jeeyun Ahn Giuliana Silvestri Evangelia E Tsironi Kyu Hyung Park Lindsay A Farrer Anton Orlin Alexander Brucker Mingyao Li Christine A Curcio Saddek Mohand-Saïd José-Alain Sahel Isabelle Audo Mustapha Benchaboune Angela J Cree Christina A Rennie Srinivas V Goverdhan Michelle Grunin Shira Hagbi-Levi Peter Campochiaro Nicholas Katsanis Frank G Holz Frédéric Blond Hélène Blanché Jean-François Deleuze Robert P Igo Barbara Truitt Neal S Peachey Stacy M Meuer Chelsea E Myers Emily L Moore Ronald Klein Michael A Hauser Eric A Postel Monique D Courtenay Stephen G Schwartz Jaclyn L Kovach William K Scott Gerald Liew Ava G Tan Bamini Gopinath John C Merriam R Theodore Smith Jane C Khan Humma Shahid Anthony T Moore J Allie McGrath Reneé Laux Milam A Brantley Anita Agarwal Lebriz Ersoy Albert Caramoy Thomas Langmann Nicole T M Saksens Eiko K de Jong Carel B Hoyng Melinda S Cain Andrea J Richardson Tammy M Martin John Blangero Daniel E Weeks Bal Dhillon Cornelia M van Duijn Kimberly F Doheny Jane Romm Caroline C W Klaver Caroline Hayward Michael B Gorin Michael L Klein Paul N Baird Anneke I den Hollander Sascha Fauser John R W Yates Rando Allikmets Jie Jin Wang Debra A Schaumberg Barbara E K Klein Stephanie A Hagstrom Itay Chowers Andrew J Lotery Thierry Léveillard Kang Zhang Murray H Brilliant Alex W Hewitt Anand Swaroop Emily Y Chew Margaret A Pericak-Vance Margaret DeAngelis Dwight Stambolian Jonathan L Haines Sudha K Iyengar Bernhard H F Weber Gonçalo R Abecasis Iris M Heid

Nat Genet 2016 Feb 21;48(2):134-43. Epub 2015 Dec 21.

Department of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.

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http://dx.doi.org/10.1038/ng.3448DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4745342PMC
February 2016

Migraine and Vasospasm in Glaucoma: Age-Related Evaluation of 2027 Patients With Glaucoma or Ocular Hypertension.

Invest Ophthalmol Vis Sci 2015 Dec;56(13):7999-8007

University Eye Hospital, University of Wuerzburg, Wuerzburg, Germany.

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http://dx.doi.org/10.1167/iovs.15-17274DOI Listing
December 2015

Monoallelic ABCA4 Mutations Appear Insufficient to Cause Retinopathy: A Quantitative Autofluorescence Study.

Invest Ophthalmol Vis Sci 2015 Dec;56(13):8179-86

Department of Ophthalmology, University of Bonn, Bonn, Germany 2Center for Rare Diseases Bonn (ZSEB), University Hospital of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1167/iovs.15-17629DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110240PMC
December 2015

What Does Genetics Tell Us About Age-Related Macular Degeneration?

Annu Rev Vis Sci 2015 Nov 14;1:73-96. Epub 2015 Oct 14.

Institute of Human Genetics and.

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http://dx.doi.org/10.1146/annurev-vision-082114-035609DOI Listing
November 2015

The genetics of age-related macular degeneration (AMD)--Novel targets for designing treatment options?

Eur J Pharm Biopharm 2015 Sep 16;95(Pt B):194-202. Epub 2015 May 16.

Institute of Human Genetics, University of Regensburg, Regensburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejpb.2015.04.039DOI Listing
September 2015

Reticular Pseudodrusen in Sorsby Fundus Dystrophy.

Ophthalmology 2015 Aug 12;122(8):1555-62. Epub 2015 Jun 12.

Department of Ophthalmology, University Hospital of Bonn, Bonn, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2015.04.035DOI Listing
August 2015

Common synonymous variants in ABCA4 are protective for chloroquine induced maculopathy (toxic maculopathy).

BMC Ophthalmol 2015 Mar 6;15:18. Epub 2015 Mar 6.

Institute of Human Genetics, University of Regensburg, Franz-Josef-Strauss-Allee 11, 93053, Regensburg, Germany.

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http://bmcophthalmol.biomedcentral.com/articles/10.1186/s128
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http://dx.doi.org/10.1186/s12886-015-0008-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352241PMC
March 2015

Atypical sorsby fundus dystrophy with a novel tyr159cys timp-3 mutation.

Retin Cases Brief Rep 2013 ;7(1):71-4

*The LuEsther T. Mertz Retinal Research Center of Manhattan Eye, Ear & Throat Institute and Vitreous-Retina-Macula Consultants of New York, New York †Institute of Human Genetics, University of Regensburg, Regensburg, Germany ‡Department of Ophthalmology, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1097/ICB.0b013e318267101eDOI Listing
January 2015

Tapping Stem Cells to Target AMD: Challenges and Prospects.

J Clin Med 2015 Jan 29;4(2):282-303. Epub 2015 Jan 29.

Institute of Human Genetics, University of Regensburg, Franz-Josef-Strauss-Allee 11, 93053 Regensburg, Germany.

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http://dx.doi.org/10.3390/jcm4020282DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4470125PMC
January 2015

X-linked juvenile retinoschisis in a consanguineous family: phenotypic variability and report of a homozygous female patient.

Retina 2014 Dec;34(12):2472-8

*Department of Ophthalmology, University of Bonn, Bonn, Germany; and †Institute of Human Genetics, University of Regensburg, Regensburg, Germany.

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http://dx.doi.org/10.1097/IAE.0000000000000243DOI Listing
December 2014

Genetic risk models in age-related macular degeneration.

Adv Exp Med Biol 2014 ;801:291-300

Institute of Human Genetics Institute of Human Genetics, University of Regensburg, Franz-Josef-Strauss-Allee 11, 93053, Regensburg, Germany,

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http://dx.doi.org/10.1007/978-1-4614-3209-8_37DOI Listing
July 2014

Harmonization of study and reference data by PhaseLift: saving time when imputing study data.

Genet Epidemiol 2014 Jul;38(5):381-8

Department of Genetic Epidemiology, Institute of Epidemiology and Preventive Medicine, University of Regensburg, Regensburg, Germany; Department of Nephrology, University Hospital Regensburg, Regensburg, Germany.

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http://doi.wiley.com/10.1002/gepi.21812
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http://dx.doi.org/10.1002/gepi.21812DOI Listing
July 2014

The role of the complement system in age-related macular degeneration.

Dtsch Arztebl Int 2014 Feb;111(8):133-8

Institute of Human Genetics, University of Regensburg, Department of Ophthalmology, University of Bonn, UCL Institute of Ophthalmology, London.

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https://www.aerzteblatt.de/10.3238/arztebl.2014.0133
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http://dx.doi.org/10.3238/arztebl.2014.0133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959224PMC
February 2014

Results of a patient-directed survey on frequency of family history of glaucoma in 2170 patients.

Invest Ophthalmol Vis Sci 2014 Jan 13;55(1):259-64. Epub 2014 Jan 13.

Centre for Paediatric and Adolescent Medicine, Division for Metabolic Disorders, University of Heidelberg, Germany.

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http://dx.doi.org/10.1167/iovs.13-13020DOI Listing
January 2014

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.

Authors:
Fergus J Couch Xianshu Wang Lesley McGuffog Andrew Lee Curtis Olswold Karoline B Kuchenbaecker Penny Soucy Zachary Fredericksen Daniel Barrowdale Joe Dennis Mia M Gaudet Ed Dicks Matthew Kosel Sue Healey Olga M Sinilnikova Adam Lee François Bacot Daniel Vincent Frans B L Hogervorst Susan Peock Dominique Stoppa-Lyonnet Anna Jakubowska Paolo Radice Rita Katharina Schmutzler Susan M Domchek Marion Piedmonte Christian F Singer Eitan Friedman Mads Thomassen Thomas V O Hansen Susan L Neuhausen Csilla I Szabo Ignacio Blanco Mark H Greene Beth Y Karlan Judy Garber Catherine M Phelan Jeffrey N Weitzel Marco Montagna Edith Olah Irene L Andrulis Andrew K Godwin Drakoulis Yannoukakos David E Goldgar Trinidad Caldes Heli Nevanlinna Ana Osorio Mary Beth Terry Mary B Daly Elizabeth J van Rensburg Ute Hamann Susan J Ramus Amanda Ewart Toland Maria A Caligo Olufunmilayo I Olopade Nadine Tung Kathleen Claes Mary S Beattie Melissa C Southey Evgeny N Imyanitov Marc Tischkowitz Ramunas Janavicius Esther M John Ava Kwong Orland Diez Judith Balmaña Rosa B Barkardottir Banu K Arun Gad Rennert Soo-Hwang Teo Patricia A Ganz Ian Campbell Annemarie H van der Hout Carolien H M van Deurzen Caroline Seynaeve Encarna B Gómez Garcia Flora E van Leeuwen Hanne E J Meijers-Heijboer Johannes J P Gille Margreet G E M Ausems Marinus J Blok Marjolijn J L Ligtenberg Matti A Rookus Peter Devilee Senno Verhoef Theo A M van Os Juul T Wijnen Debra Frost Steve Ellis Elena Fineberg Radka Platte D Gareth Evans Louise Izatt Rosalind A Eeles Julian Adlard Diana M Eccles Jackie Cook Carole Brewer Fiona Douglas Shirley Hodgson Patrick J Morrison Lucy E Side Alan Donaldson Catherine Houghton Mark T Rogers Huw Dorkins Jacqueline Eason Helen Gregory Emma McCann Alex Murray Alain Calender Agnès Hardouin Pascaline Berthet Capucine Delnatte Catherine Nogues Christine Lasset Claude Houdayer Dominique Leroux Etienne Rouleau Fabienne Prieur Francesca Damiola Hagay Sobol Isabelle Coupier Laurence Venat-Bouvet Laurent Castera Marion Gauthier-Villars Mélanie Léoné Pascal Pujol Sylvie Mazoyer Yves-Jean Bignon Elżbieta Złowocka-Perłowska Jacek Gronwald Jan Lubinski Katarzyna Durda Katarzyna Jaworska Tomasz Huzarski Amanda B Spurdle Alessandra Viel Bernard Peissel Bernardo Bonanni Giulia Melloni Laura Ottini Laura Papi Liliana Varesco Maria Grazia Tibiletti Paolo Peterlongo Sara Volorio Siranoush Manoukian Valeria Pensotti Norbert Arnold Christoph Engel Helmut Deissler Dorothea Gadzicki Andrea Gehrig Karin Kast Kerstin Rhiem Alfons Meindl Dieter Niederacher Nina Ditsch Hansjoerg Plendl Sabine Preisler-Adams Stefanie Engert Christian Sutter Raymonda Varon-Mateeva Barbara Wappenschmidt Bernhard H F Weber Brita Arver Marie Stenmark-Askmalm Niklas Loman Richard Rosenquist Zakaria Einbeigi Katherine L Nathanson Timothy R Rebbeck Stephanie V Blank David E Cohn Gustavo C Rodriguez Laurie Small Michael Friedlander Victoria L Bae-Jump Anneliese Fink-Retter Christine Rappaport Daphne Gschwantler-Kaulich Georg Pfeiler Muy-Kheng Tea Noralane M Lindor Bella Kaufman Shani Shimon Paluch Yael Laitman Anne-Bine Skytte Anne-Marie Gerdes Inge Sokilde Pedersen Sanne Traasdahl Moeller Torben A Kruse Uffe Birk Jensen Joseph Vijai Kara Sarrel Mark Robson Noah Kauff Anna Marie Mulligan Gord Glendon Hilmi Ozcelik Bent Ejlertsen Finn C Nielsen Lars Jønson Mette K Andersen Yuan Chun Ding Linda Steele Lenka Foretova Alex Teulé Conxi Lazaro Joan Brunet Miquel Angel Pujana Phuong L Mai Jennifer T Loud Christine Walsh Jenny Lester Sandra Orsulic Steven A Narod Josef Herzog Sharon R Sand Silvia Tognazzo Simona Agata Tibor Vaszko Joellen Weaver Alexandra V Stavropoulou Saundra S Buys Atocha Romero Miguel de la Hoya Kristiina Aittomäki Taru A Muranen Mercedes Duran Wendy K Chung Adriana Lasa Cecilia M Dorfling Alexander Miron Javier Benitez Leigha Senter Dezheng Huo Salina B Chan Anna P Sokolenko Jocelyne Chiquette Laima Tihomirova Tara M Friebel Bjarni A Agnarsson Karen H Lu Flavio Lejbkowicz Paul A James Per Hall Alison M Dunning Daniel Tessier Julie Cunningham Susan L Slager Chen Wang Steven Hart Kristen Stevens Jacques Simard Tomi Pastinen Vernon S Pankratz Kenneth Offit Douglas F Easton Georgia Chenevix-Trench Antonis C Antoniou

PLoS Genet 2013 27;9(3):e1003212. Epub 2013 Mar 27.

Department of Laboratory Medicine and Pathology, and Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.

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http://dx.doi.org/10.1371/journal.pgen.1003212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3609646PMC
June 2013

Seven new loci associated with age-related macular degeneration.

Authors:
Lars G Fritsche Wei Chen Matthew Schu Brian L Yaspan Yi Yu Gudmar Thorleifsson Donald J Zack Satoshi Arakawa Valentina Cipriani Stephan Ripke Robert P Igo Gabriëlle H S Buitendijk Xueling Sim Daniel E Weeks Robyn H Guymer Joanna E Merriam Peter J Francis Gregory Hannum Anita Agarwal Ana Maria Armbrecht Isabelle Audo Tin Aung Gaetano R Barile Mustapha Benchaboune Alan C Bird Paul N Bishop Kari E Branham Matthew Brooks Alexander J Brucker William H Cade Melinda S Cain Peter A Campochiaro Chi-Chao Chan Ching-Yu Cheng Emily Y Chew Kimberly A Chin Itay Chowers David G Clayton Radu Cojocaru Yvette P Conley Belinda K Cornes Mark J Daly Baljean Dhillon Albert O Edwards Evangelos Evangelou Jesen Fagerness Henry A Ferreyra James S Friedman Asbjorg Geirsdottir Ronnie J George Christian Gieger Neel Gupta Stephanie A Hagstrom Simon P Harding Christos Haritoglou John R Heckenlively Frank G Holz Guy Hughes John P A Ioannidis Tatsuro Ishibashi Peronne Joseph Gyungah Jun Yoichiro Kamatani Nicholas Katsanis Claudia N Keilhauer Jane C Khan Ivana K Kim Yutaka Kiyohara Barbara E K Klein Ronald Klein Jaclyn L Kovach Igor Kozak Clara J Lee Kristine E Lee Peter Lichtner Andrew J Lotery Thomas Meitinger Paul Mitchell Saddek Mohand-Saïd Anthony T Moore Denise J Morgan Margaux A Morrison Chelsea E Myers Adam C Naj Yusuke Nakamura Yukinori Okada Anton Orlin M Carolina Ortube Mohammad I Othman Chris Pappas Kyu Hyung Park Gayle J T Pauer Neal S Peachey Olivier Poch Rinki Ratna Priya Robyn Reynolds Andrea J Richardson Raymond Ripp Guenther Rudolph Euijung Ryu José-Alain Sahel Debra A Schaumberg Hendrik P N Scholl Stephen G Schwartz William K Scott Humma Shahid Haraldur Sigurdsson Giuliana Silvestri Theru A Sivakumaran R Theodore Smith Lucia Sobrin Eric H Souied Dwight E Stambolian Hreinn Stefansson Gwen M Sturgill-Short Atsushi Takahashi Nirubol Tosakulwong Barbara J Truitt Evangelia E Tsironi André G Uitterlinden Cornelia M van Duijn Lingam Vijaya Johannes R Vingerling Eranga N Vithana Andrew R Webster H-Erich Wichmann Thomas W Winkler Tien Y Wong Alan F Wright Diana Zelenika Ming Zhang Ling Zhao Kang Zhang Michael L Klein Gregory S Hageman G Mark Lathrop Kari Stefansson Rando Allikmets Paul N Baird Michael B Gorin Jie Jin Wang Caroline C W Klaver Johanna M Seddon Margaret A Pericak-Vance Sudha K Iyengar John R W Yates Anand Swaroop Bernhard H F Weber Michiaki Kubo Margaret M Deangelis Thierry Léveillard Unnur Thorsteinsdottir Jonathan L Haines Lindsay A Farrer Iris M Heid Gonçalo R Abecasis

Nat Genet 2013 Apr 3;45(4):433-9, 439e1-2. Epub 2013 Mar 3.

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

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http://dx.doi.org/10.1038/ng.2578DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3739472PMC
April 2013

Modelling the genetic risk in age-related macular degeneration.

PLoS One 2012 30;7(5):e37979. Epub 2012 May 30.

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

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0037979PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3364197PMC
October 2012

In vivo imaging reveals novel aspects of retinal disease progression in Rs1h(-/Y) mice but no therapeutic effect of carbonic anhydrase inhibition.

Vet Ophthalmol 2012 Sep 4;15 Suppl 2:123-33. Epub 2012 Jun 4.

Centre for Ophthalmology, University of Tübingen, Schleichstr, 12-16, 72076 Tübingen, Germany.

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http://dx.doi.org/10.1111/j.1463-5224.2012.01039.xDOI Listing
September 2012

X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms.

Prog Retin Eye Res 2012 May 3;31(3):195-212. Epub 2012 Jan 3.

Department of Biochemistry and Molecular Biology, Centre of Macular Research, University of British Columbia, 2350 Health Sciences Mall, Vancouver, B.C. V6T 1Z3, Canada.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3334421PMC
http://dx.doi.org/10.1016/j.preteyeres.2011.12.002DOI Listing
May 2012

Dextran and protamine-based solid lipid nanoparticles as potential vectors for the treatment of X-linked juvenile retinoschisis.

Hum Gene Ther 2012 Apr 29;23(4):345-55. Epub 2012 Mar 29.

Pharmacokinetics, Nanotechnology and Gene Therapy Group Laboratory of Pharmacy and Pharmaceutical Technology, University of the Basque Country UPV/EHU, 01006 Vitoria-Gasteiz, Spain.

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http://dx.doi.org/10.1089/hum.2011.115DOI Listing
April 2012

Age-related macular degeneration with discordant late stage phenotypes in monozygotic twins.

Ophthalmic Genet 2011 Nov 8;32(4):237-44. Epub 2011 Jul 8.

Department of Ophthalmology, University of Wuerzburg, Germany.

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http://dx.doi.org/10.3109/13816810.2011.592177DOI Listing
November 2011

Disease-associated missense mutations in bestrophin-1 affect cellular trafficking and anion conductance.

J Cell Sci 2011 Sep;124(Pt 17):2988-96

Experimental Ophthalmology, Eye Hospital, University Medical Center Regensburg, 93054 Regensburg, Germany.

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http://jcs.biologists.org/lookup/doi/10.1242/jcs.085878
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http://dx.doi.org/10.1242/jcs.085878DOI Listing
September 2011

Risk- and non-risk-associated variants at the 10q26 AMD locus influence ARMS2 mRNA expression but exclude pathogenic effects due to protein deficiency.

Hum Mol Genet 2011 Apr 20;20(7):1387-99. Epub 2011 Jan 20.

Institute of Human Genetics, University of Regensburg, Franz-Josef-Strauss-Allee 11, 93053 Regensburg, Germany.

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http://dx.doi.org/10.1093/hmg/ddr020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3049360PMC
April 2011

The Na/K-ATPase is obligatory for membrane anchorage of retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis.

Hum Mol Genet 2011 Mar 31;20(6):1132-42. Epub 2010 Dec 31.

Institute of Human Genetics, University of Regensburg, Franz-Josef-Strauss-Allee 11, 93053 Regensburg, Germany.

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http://dx.doi.org/10.1093/hmg/ddq557DOI Listing
March 2011

An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD).

Hum Mol Genet 2010 Dec 15;19(23):4694-704. Epub 2010 Sep 15.

Institute of Human Genetics, University of Regensburg, Franz-Josef-Strauss-Allee 11, Regensburg, Germany.

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http://dx.doi.org/10.1093/hmg/ddq399DOI Listing
December 2010

CRX ChIP-seq reveals the cis-regulatory architecture of mouse photoreceptors.

Genome Res 2010 Nov 6;20(11):1512-25. Epub 2010 Aug 6.

Department of Pathology and Immunology, Washington University School of Medicine, St Louis, Missouri 63110-1024, USA.

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http://dx.doi.org/10.1101/gr.109405.110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2963815PMC
November 2010

High-throughput resequencing in the diagnosis of BRCA1/2 mutations using oligonucleotide resequencing microarrays.

Breast Cancer Res Treat 2010 Jul 26;122(1):287-97. Epub 2009 Nov 26.

Department of Medical Genetics, University of Tübingen, Calwer Str 7, 72076 Tubingen, Germany.

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http://dx.doi.org/10.1007/s10549-009-0639-zDOI Listing
July 2010

A genetic variant in the pre-miR-27a oncogene is associated with a reduced familial breast cancer risk.

Breast Cancer Res Treat 2010 Jun 18;121(3):693-702. Epub 2009 Nov 18.

Helmholtz-University Group Molecular Epidemiology, German Cancer Research Center, DKFZ, Im Neuenheimer Feld 581, 69120 Heidelberg, Germany.

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http://link.springer.com/10.1007/s10549-009-0633-5
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http://dx.doi.org/10.1007/s10549-009-0633-5DOI Listing
June 2010