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A

Antoniou, Antonis C. and Sinilnikova, Olga M. and McGuffog, Lesley and Healey, Sue and Nevanlinna, Heli and Heikkinen, Tuomas and Simard, Jacques and Spurdle, Amanda B. and Beesley, Jonathan and Chen, Xiaoqing and Neuhausen, Susan L. and Ding, Yuan C. and Couch, Fergus J. and Wang, Xianshu and Fredericksen, Zachary and Peterlongo, Paolo and Peissel, Bernard and Bonanni, Bernardo and Viel, Alessandra and Bernard, Loris and Radice, Paolo and Szabo, Csilla I. and Foretova, Lenka and Zikan, Michal and Claes, Kathleen and Greene, Mark H. and Mai, Phuong L. and Rennert, Gad and Lejbkowicz, Flavio and Andrulis, Irene L. and Ozcelik, Hilmi and Glendon, Gord and Gerdes, Anne-Marie and Thomassen, Mads and Sunde, Lone and Caligo, Maria A. and Laitman, Yael and Kontorovich, Tair and Cohen, Shimrit and Kaufman, Bella and Dagan, Efrat and Baruch, Ruth Gershoni and Friedman, Eitan and Harbst, Katja and Barbany-Bustinza, Gisela and Rantala, Johanna and Ehrencrona, Hans and Karlsson, Per and Domchek, Susan M. and Nathanson, Katherine L. and Osorio, Ana and Blanco, Ignacio and Lasa, Adriana and Benitez, Javier and Hamann, Ute and Hogervorst, Frans B. L. and Rookus, Matti A. and Collee, J. Margriet and Devilee, Peter and Ligtenberg, Marjolijn J. and van der Luijt, Rob B. and Aalfs, Cora M. and Waisfisz, Quinten and Wijnen, Juul and van Roozendaal, Cornelis E. P. and Peock, Susan and Cook, Margaret and Frost, Debra and Oliver, Clare and Platte, Radka and Evans, D. Gareth and Lalloo, Fiona and Eeles, Rosalind and Izatt, Louise and Davidson, Rosemarie and Chu, Carol and Eccles, Diana and Cole, Trevor and Hodgson, Shirley and Godwin, Andrew K. and Stoppa-Lyonnet, Dominique and Buecher, Bruno and Leone, Melanie and Bressac-de Paillerets, Brigitte and Remenieras, Audrey and Caron, Olivier and Lenoir, Gilbert M. and Sevenet, Nicolas and Longy, Michel and Ferrer, Sandra Fert and Prieur, Fabienne and Goldgar, David and Miron, Alexander and John, Esther M. and Buys, Saundra S. and Daly, Mary B. and Hopper, John L. and Terry, Mary Beth and Yassin, Yosuf and Singer, Christian and Gschwantler-Kaulich, Daphne and Staudigl, Christine and Hansen, Thomas V. O. and Barkardottir, Rosa Bjork and Kirchhoff, Tomas and Pal, Prodipto and Kosarin, Kristi and Offit, Kenneth and Piedmonte, Marion and Rodriguez, Gustavo C. and Wakeley, Katie and Boggess, John F. and Basil, Jack and Schwartz, Peter E. and Blank, Stephanie V. and Toland, Amanda E. and Montagna, Marco and Casella, Cinzia and Imyanitov, Evgeny N. and Allavena, Anna and Schmutzler, Rita K. and Versmold, Beatrix and Engel, Christoph and Meindl, Alfons and Ditsch, Nina and Arnold, Norbert and Niederacher, Dieter and Deissler, Helmut and Fiebig, Britta and Suttner, Christian and Schoenbuchner, Ines and Gadzicki, Dorothea and Caldes, Trinidad and de la Hoya, Miguel and Pooley, Karen A. and Easton, Douglas F. and Chenevix-Trench, Georgia (2009) Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. HUMAN MOLECULAR GENETICS, 18 (22). pp. 4442-4456. ISSN 0964-6906, 1460-2083

C

Cox, David G. and Simard, Jacques and Sinnett, Daniel and Hamdi, Yosr and Soucy, Penny and Ouimet, Manon and Barjhoux, Laure and Verny-Pierre, Carole and McGuffog, Lesley and Healey, Sue and Szabo, Csilla and Greene, Mark H. and Mai, Phuong L. and Andrulis, Irene L. and Thomassen, Mads and Gerdes, Anne-Marie and Caligo, Maria A. and Friedman, Eitan and Laitman, Yael and Kaufman, Bella and Paluch, Shani S. and Borg, Ake and Karlsson, Per and Askmalm, Marie Stenmark and Bustinza, Gisela Barbany and Nathanson, Katherine L. and Domchek, Susan M. and Rebbeck, Timothy R. and Benitez, Javier and Hamann, Ute and Rookus, Matti A. and van den Ouweland, Ans M. W. and Ausems, Margreet G. E. M. and Aalfs, Cora M. and van Asperen, Christi J. and Devilee, Peter and Gille, Hans J. J. P. and Peock, Susan and Frost, Debra and Evans, D. Gareth and Eeles, Ros and Izatt, Louise and Adlard, Julian and Paterson, Joan and Eason, Jacqueline and Godwin, Andrew K. and Remon, Marie-Alice and Moncoutier, Virginie and Gauthier-Villars, Marion and Lasset, Christine and Giraud, Sophie and Hardouin, Agnes and Berthet, Pascaline and Sobol, Hagay and Eisinger, Francois and de Paillerets, Brigitte Bressac and Caron, Olivier and Delnatte, Capucine and Goldgar, David and Miron, Alex and Ozcelik, Hilmi and Buys, Saundra and Southey, Melissa C. and Terry, Mary Beth and Singer, Christian F. and Dressler, Anne-Catharina and Tea, Muy-Kheng and Hansen, Thomas V. O. and Johannsson, Oskar and Piedmonte, Marion and Rodriguez, Gustavo C. and Basil, Jack B. and Blank, Stephanie and Toland, Amanda E. and Montagna, Marco and Isaacs, Claudine and Blanco, Ignacio and Gayther, Simon A. and Moysich, Kirsten B. and Schmutzler, Rita K. and Wappenschmidt, Barbara and Engel, Christoph and Meindl, Alfons and Ditsch, Nina and Arnold, Norbert and Niederacher, Dieter and Sutter, Christian and Gadzicki, Dorothea and Fiebig, Britta and Caldes, Trinidad and Laframboise, Rachel and Nevanlinna, Heli and Chen, Xiaoqing and Beesley, Jonathan and Spurdle, Amanda B. and Neuhausen, Susan L. and Ding, Yuan C. and Couch, Fergus J. and Wang, Xianshu and Peterlongo, Paolo and Manoukian, Siranoush and Bernard, Loris and Radice, Paolo and Easton, Douglas F. and Chenevix-Trench, Georgia and Antoniou, Antonis C. and Stoppa-Lyonnet, Dominique and Mazoyer, Sylvie and Sinilnikova, Olga M. (2011) Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers. HUMAN MOLECULAR GENETICS, 20 (23). pp. 4732-4747. ISSN 0964-6906

Cushion, Thomas D. and Dobyns, William B. and Mullins, Jonathan G. L. and Stoodley, Neil and Chung, Seo-Kyung and Fry, Andrew E. and Hehr, Ute and Gunny, Roxana and Aylsworth, Arthur S. and Prabhakar, Prab and Uyanik, Goekhan and Rankin, Julia and Rees, Mark I. and Pilz, Daniela T. (2013) Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. BRAIN, 136. pp. 536-548. ISSN 0006-8950, 1460-2156

F

Fisher, Sheila A. and Abecasis, G. R. and Yashar, B. M. and Zareparsi, S. and Swaroop, A. and Iyengar, S.K. and Klein, B. E. K. and Klein, R. and Lee, K. E. and Majewski, J. and Schultz, D. W. and Klein, M. L. and Seddon, J. M. and Santangelo, S. L. and Weeks, D. E. and Conley, Y. P. and Mah, T. S. and Schmidt, S. and Haines, J. L. and Pericak-Vance, M. A. and Gorin, M. B. and Schulz, H. L. and Pardi, F. and Lewis, C. M. and Weber, Bernhard H. F. (2005) Meta-analysis of genome scans of age-related macular degeneration. HUMAN MOLECULAR GENETICS, 14 (15). pp. 2257-2264. ISSN 0964-6906

Friedrich, Ulrike and Datta, Shyamtanu and Schubert, Thomas and Ploessl, Karolina and Schneider, Magdalena and Grassmann, Felix and Fuchshofer, Rudolf and Tiefenbach, Klaus-Juergen and Laengst, Gernot and Weber, Bernhard H. F. (2015) Synonymous variants in HTRA1 implicated in AMD susceptibility impair its capacity to regulate TGF-beta signaling. HUMAN MOLECULAR GENETICS, 24 (22). pp. 6361-6373. ISSN 0964-6906, 1460-2083

Friedrich, Ulrike and Myers, Connie A. and Fritsche, Lars G. and Milenkovich, Andrea and Wolf, Armin and Corbo, Joseph C. and Weber, Bernhard H. F. (2011) Risk- and non-risk-associated variants at the 10q26 AMD locus influence ARMS2 mRNA expression but exclude pathogenic effects due to protein deficiency. HUMAN MOLECULAR GENETICS, 20 (7). pp. 1387-1399. ISSN 0964-6906, 1460-2083

Friedrich, Ulrike and Stoehr, Heidi and Hilfinger, Daniela and Loenhardt, Thomas and Schachner, Melitta and Langmann, Thomas and Weber, Bernhard H. F. (2011) The Na/K-ATPase is obligatory for membrane anchorage of retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis. HUMAN MOLECULAR GENETICS, 20 (6). pp. 1132-1142. ISSN 0964-6906, 1460-2083

Fritsche, Lars G. and Lauer, Nadine and Hartmann, Andrea and Stippa, Selina and Keilhauer, Claudia N. and Oppermann, Martin and Pandey, Manoj K. and Koehl, Joerg and Zipfel, Peter F. and Weber, Bernhard H. F. and Skerka, Christine (2010) An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD). HUMAN MOLECULAR GENETICS, 19 (23). pp. 4694-4704. ISSN 0964-6906

G

Grassl, M. and Stark, K. and Fenk, S. and Hoecherl, R. and Hubauer, U. and Reinhard, W. and Zollbrecht, C. and Ebert, S. and Langmann, T. and Hengstenberg, C. (2010) Difference in gene expression of macrophages stimulated with atherogenic substances regarding the chromosome 9p21. EUROPEAN HEART JOURNAL, 31 (suppl1). p. 538. ISSN 0195-668X

Groh, Janos and Kuehl, Thomas G. and Ip, Chi Wang and Nelvagal, Hemanth R. and Sri, Sarmi and Duckett, Steven and Mirza, Myriam and Langmann, Thomas and Cooper, Jonathan D. and Martini, Rudolf (2013) Immune cells perturb axons and impair neuronal survival in a mouse model of infantile neuronal ceroid lipofuscinosis. BRAIN, 136. pp. 1083-1101. ISSN 0006-8950, 1460-2156

H

Havlicek, Steven and Kohl, Zacharias and Mishra, Himanshu K. and Prots, Iryna and Eberhardt, Esther and Denguir, Naime and Wend, Holger and Ploetz, Sonja and Boyer, Leah and Marchetto, Maria C. N. and Aigner, Stefan and Sticht, Heinrich and Groemer, Teja W. and Hehr, Ute and Lampert, Angelika and Schloetzer-Schrehardt, Ursula and Winkler, Juergen and Gage, Fred H. and Winner, Beate (2014) Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients neurons. HUMAN MOLECULAR GENETICS, 23 (10). pp. 2527-2541. ISSN 0964-6906, 1460-2083

Hehr, A. and Gassner, C. and Paulmann, B. and Kowalzyk, Z. and Klatt, M. and Krauss, S. and Seifert, D. and Seifert, B. and Hehr, U. (2013) PGD for monogenic disorders on polar bodies (PBD) - impact of clinical parameters on PBD outcome. OXFORD UNIV PRESS, OXFORD.

K

Karlstetter, Marcus and Sorusch, Nasrin and Caramoy, Albert and Dannhausen, Katharina and Aslanidis, Alexander and Fauser, Sascha and Boesl, Michael R. and Nagel-Wolfrum, Kerstin and Tamm, Ernst R. and Jaegle, Herbert and Stoehr, Heidi and Wolfrum, Uwe and Langmann, Thomas (2014) Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration. HUMAN MOLECULAR GENETICS, 23 (19). pp. 5197-5210. ISSN 0964-6906, 1460-2083

L

Langmann, Thomas and Lai, Christine C. L. and Weigelt, Karin and Tam, Beatrice M. and Warneke-Wittstock, Regina and Moritz, Orson L. and Weber, Bernhard H. F. (2008) CRX controls retinal expression of the X-linked juvenile retinoschisis (RS1) gene. NUCLEIC ACIDS RESEARCH, 36 (20). pp. 6523-6534. ISSN 0305-1048, 1362-4962

M

Milenkovic, Andrea and Milenkovic, Vladimir M. and Wetzel, Christian H. and Weber, Bernhard H. F. (2018) BEST1 protein stability and degradation pathways differ between autosomal dominant Best disease and autosomal recessive bestrophinopathy accounting for the distinct retinal phenotypes. HUMAN MOLECULAR GENETICS, 27 (9). pp. 1630-1641. ISSN 0964-6906, 1460-2083

R

Ratnapriya, Rinki and Zhan, Xiaowei and Fariss, Robert N. and Branham, Kari E. and Zipprer, David and Chakarova, Christina F. and Sergeev, Yuri V. and Campos, Maria M. and Othman, Mohammad and Friedman, James S. and Maminishkis, Arvydas and Waseem, Naushin H. and Brooks, Matthew and Rajasimha, Harsha K. and Edwards, Albert O. and Lotery, Andrew and Klein, Barbara E. and Truitt, Barbara J. and Li, Bingshan and Schaumberg, Debra A. and Morgan, Denise J. and Morrison, Margaux A. and Souied, Eric and Tsironi, Evangelia E. and Grassmann, Felix and Fishman, Gerald A. and Silvestri, Giuliana and Scholl, Hendrik P. N. and Kim, Ivana K. and Ramke, Jacqueline and Tuo, Jingsheng and Merriam, Joanna E. and Merriam, John C. and Park, Kyu Hyung and Olson, Lana M. and Farrer, Lindsay A. and Johnson, Matthew P. and Peachey, Neal S. and Lathrop, Mark and Baron, Robert V. and Igo, Robert P. and Klein, Ronald and Hagstrom, Stephanie A. and Kamatani, Yoichiro and Martin, Tammy M. and Jiang, Yingda and Conley, Yvette and Sahel, Jose-Alan and Zack, Donald J. and Chan, Chi-Chao and Pericak-Vance, Margaret A. and Jacobson, Samuel G. and Gorin, Michael B. and Klein, Michael L. and Allikmets, Rando and Iyengar, Sudha K. and Weber, Bernhard H. and Haines, Jonathan L. and Leveillard, Thierry and Deangelis, Margaret M. and Stambolian, Dwight and Weeks, Daniel E. and Bhattacharya, Shomi S. and Chew, Emily Y. and Heckenlively, John R. and Abecasis, Goncalo R. and Swaroop, Anand (2014) Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration. HUMAN MOLECULAR GENETICS, 23 (21). pp. 5827-5837. ISSN 0964-6906, 1460-2083

Rivera, Andrea and Fisher, S. A. and Fritsche, L. G. and Keilhauer, C. N. and Lichtner, P. and Meitinger, T. and Weber, Bernhard H. F. (2005) Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk. HUMAN MOLECULAR GENETICS, 14 (21). pp. 3227-3236. ISSN 0964-6906, 1460-2083

S

Sofat, Reecha and Casas, Juan P. and Webster, Andrew R. and Bird, Alan C. and Mann, Samantha S. and Yates, John R. W. and Moore, Anthony T. and Sepp, Tiina and Cipriani, Valentina and Bunce, Catey and Khan, Jane C. and Shahid, Humma and Swaroop, Anand and Abecasis, Goncalo and Branham, Kari E. H. and Zareparsi, Sepideh and Bergen, Arthur A. and Klaver, Caroline C. W. and Baas, Dominique C. and Zhang, Kang and Chen, Yuhong and Gibbs, Daniel and Weber, Bernhard H. F. and Keilhauer, Claudia N. and Fritsche, Lars G. and Lotery, Andrew and Cree, Angela J. and Griffiths, Helen L. and Bhattacharya, Shomi S. and Chen, Li L. and Jenkins, Sharon A. and Peto, Tunde and Lathrop, Mark and Leveillard, Thierry and Gorin, Michael B. and Weeks, Daniel E. and Ortube, Maria Carolina and Ferrell, Robert E. and Jakobsdottir, Johanna and Conley, Yvette P. and Rahu, Mati and Seland, Johan H. and Soubrane, Gisele and Topouzis, Fotis and Vioque, Jesus and Tomazzoli, Laura and Young, Ian and Whittaker, John and Chakravarthy, Usha and de Jong, Paulus T. V. M. and Smeeth, Liam and Fletcher, Astrid and Hingorani, Aroon D. (2012) Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype. INTERNATIONAL JOURNAL OF EPIDEMIOLOGY, 41 (1). pp. 250-262. ISSN 0300-5771

T

Tchatchou, Sandrine and Jung, Anke and Hemminki, Kari and Sutter, Christian and Wappenschmidt, Barbara and Bugert, Peter and Weber, Bernhard H. F. and Niederacher, Dieter and Arnold, Norbert and Varon-Mateeva, Raymonda and Ditsch, Nina and Meindl, Alfons and Schmutzler, Rita K. and Bartram, Claus R. and Burwinkel, Barbara (2009) A variant affecting a putative miRNA target site in estrogen receptor (ESR) 1 is associated with breast cancer risk in premenopausal women. CARCINOGENESIS, 30 (1). pp. 59-64. ISSN 0143-3334, 1460-2180

W

Wirtenberger, Michael and Frank, Bernd and Hemminki, Kari and Klaes, Ruediger and Schmutzler, Rita K. and Wappenschmidt, Barbara and Meindl, Alfons and Kiechle, Marion and Arnold, Norbert and Weber, Bernhard H. F. and Niederacher, Dieter and Bartram, Claus R. and Burwinkel, Barbara (2006) Interaction of Werner and Bloom syndrome genes with p53 in familial breast cancer. CARCINOGENESIS, 27 (8). pp. 1655-1660. ISSN 0143-3334

Wirtenberger, Michael and Schmutzhard, Julia and Hemminki, Kari and Meindl, Alfons and Sutter, Christian and Schmutzler, Rita K. and Wappenschmidt, Barbara and Kiechle, Marion and Arnold, Norbert and Weber, Bernhard H. F. and Niederacher, Dieter and Bartram, Claus R. and Burwinkel, Barbara (2007) The functional genetic variant Ile646Val located in the kinase binding domain of the A-kinase anchoring protein 10 is associated with familial breast cancer. CARCINOGENESIS, 28 (2). pp. 423-426. ISSN 0143-3334

Wirtenberger, Michael and Tchatchou, Sandrine and Hemminki, Kari and Schmutzhard, Julia and Sutter, Christian and Schmutzler, Rita K. and Meindl, Alfons and Wappenschmidt, Barbara and Kiechle, Marion and Arnold, Norbert and Weber, Bernhard H. F. and Niederacher, Dieter and Bartram, Claus R. and Burwinkel, Barbara (2006) Associations of genetic variants in the estrogen receptor coactivators PPARGC1A, PPARGC1B and EP300 with familial breast cancer. CARCINOGENESIS, 27 (11). pp. 2201-2208. ISSN 0143-3334

Y

Yang, Rongxi and Frank, Bernd and Hemminki, Kari and Bartram, Claus R. and Wappenschmidt, Barbara and Sutter, Christian and Kiechle, Marion and Bugert, Peter and Schmutzler, Rita K. and Arnold, Norbert and Weber, Bernhard H. F. and Niederacher, Dieter and Meindl, Alfons and Burwinkel, Barbara (2008) SNPs in ultraconserved elements and familial breast cancer risk. CARCINOGENESIS, 29 (2). pp. 351-355. ISSN 0143-3334

Z

Zach, Frank and Grassmann, Felix and Langmann, Thomas and Sorusch, Nasrin and Wolfrum, Uwe and Stoehr, Heidi (2012) The retinitis pigmentosa 28 protein FAM161A is a novel ciliary protein involved in intermolecular protein interaction and microtubule association. HUMAN MOLECULAR GENETICS, 21 (21). pp. 4573-4586. ISSN 0964-6906, 1460-2083