Items where Division is "Medicine > Lehrstuhl für Humangenetik" and Year is 2025

A

Antonicka, Hana and Weraarpachai, Woranontee and Szigety, Katherine M. and Kopajtich, Robert and Gibson, James B. and Hove, Johan L. K. Van and Friederich, Marisa W. and Lopriore, Piervito and Neuhofer, Christiane and Hove, Roxanne A. Van and Cole, Michel A. and Reisdorph, Richard and Peterson, James T. and Dempsey, Katherine J. and Ganetzky, Rebecca D. and Mancuso, Michelangelo and Prokisch, Holger and Shoubridge, Eric A. (2025) Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early-to late-onset Leigh syndrome. AMERICAN JOURNAL OF HUMAN GENETICS, 112 (7). pp. 1699-1710. ISSN 0002-9297, 1537-6605

L

Leitinger, Markus and Broggi, Serena and Spendel, Mathias and Kalss, Gudrun and Petrovic, Ivan and Krainz, Herbert and Rossini, Fabio and Hoefler, Julia and Toma, Andreea and Kuchukhidze, Giorgi and Mauritz, Matthias and Poppert, Kai-Nicolas and Crespo-Pimentel, Bernardo and Bosque-Varela, Pilar and Pleyers, Anna and Ganger, Patricia and Kotzot, Dieter and Lessel, Davor and Griessenauer, Christoph J. and Trinka, Eugen (2025) Multiple intracerebral hematomas during SEEG recording and intradural hemorrhage after spinal tap: A case report prompting more research on collagen IV gene mutation and oral nicotine consumption as risk factors. EPILEPSIA OPEN, 10 (1). pp. 329-335. ISSN , 2470-9239

Lessel, Ivana and Baresic, Anja and Chinn, Ivan K. and May, Jonathan and Goenka, Anu and Chandler, Kate E. and Posey, Jennifer E. and Afenjar, Alexandra and Averdunk, Luisa and Bedeschi, Maria Francesca and Besnard, Thomas and Brager, Rae and Brick, Lauren and Brugger, Melanie and Brunet, Theresa and Byrne, Susan and de la Calle-Martin, Oscar and Capra, Valeria and Cardenas, Paul and Chappe, Celine and Chong, Hey J. and Cogne, Benjamin and Conboy, Erin and Cope, Heidi and Courtin, Thomas and Deb, Wallid and Dilena, Robertino and Dubourg, Christele and Elgizouli, Magdeldin and Fernandes, Erica and Fitzgerald, Kristi K. and Gangi, Silvana and George-Abraham, Jaya K. and Gucsavas-Calikoglu, Muge and Haack, Tobias B. and Hadonou, Medard and Hanker, Britta and Huning, Irina and Iascone, Maria and Isidor, Bertrand and Jarvela, Irma and Jin, Jay J. and Jorge, Alexander A. L. and Josifova, Dragana and Kalinauskiene, Ruta and Kamsteeg, Erik-Jan and Keren, Boris and Kessler, Elena and Koelbel, Heike and Kozenko, Mariya and Kubisch, Christian and Kuechler, Alma and Leal, Suzanne M. and Leppala, Juha and Luu, Sharon M. and Lyon, Gholson J. and Madan-Khetarpal, Suneeta and Mancardi, Margherita and Marchi, Elaine and Mehta, Lakshmi and Menendez, Beatriz and Morel, Chantal F. and Harasink, Sue Moyer and Nevay, Dayna-Lynn and Nigro, Vincenzo and Odent, Sylvie and Oegema, Renske and Pappas, John and Pastore, Matthew T. and Perilla-Young, Yezmin and Platzer, Konrad and Powell-Hamilton, Nina and Rabin, Rachel and Rekab, Aisha and Rezende, Raissa C. and Robert, Leema and Romano, Ferruccio and Scala, Marcello and Poths, Karin and Schrauwen, Isabelle and Sebastian, Jessica and Short, John and Sidlow, Richard and Sullivan, Jennifer and Szakszon, Katalin and Tan, Queenie K. G. and Wagner, Matias and Wieczorek, Dagmar and Yuan, Bo and Maeding, Nicole and Strunk, Dirk and Begtrup, Amber and Banka, Siddharth and Lupski, James R. and Tolosa, Eva and Lessel, Davor (2025) DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders. AMERICAN JOURNAL OF HUMAN GENETICS, 112 (2). pp. 394-413. ISSN 0002-9297, 1537-6605

Li, Shuai and Madanat-Harjuoja, Laura and Leslie, Goska and Barnes, Daniel R. and Bolla, Manjeet K. and Dennis, Joe and Parsons, Michael T. and Apostolou, Paraskevi and Arnold, Norbert and Bosse, Kristin and Ahmed, Munaza and Barwell, Julian and Brady, Angela and Brennan, Paul and Conti, Hector and Cook, Jackie and Engel, Christoph and Evans, D. Gareth and Fostira, Florentia and Frone, Megan N. and Gehrig, Andrea and Greene, Mark H. and Hackmann, Karl and Hahnen, Eric and Harbeck, Nadia and Hauke, Jan and Hentschel, Julia and Horvath, Judit and Izatt, Louise and Kiechle, Marion and Konstantopoulou, Irene and Lalloo, Fiona and Ngeow, Joanne and Niederacher, Dieter and Ritter, Julia and Santamarina, Marta and Schmutzler, Rita K. and Searle, Claire and Sutter, Christian and Tischkowitz, Marc and Tripathi, Vishakha and Vega, Ana and Wallaschek, Hannah and Wang-Gohrke, Shan and Wappenschmidt, Barbara and Weber, Bernhard H. F. and Yannoukakos, Drakoulis and Zhao, Emily and Easton, Douglas F. and Antoniou, Antonis C. and Chenevix-Trench, Georgia and Rebbeck, Timothy R. and Diller, Lisa R. (2025) Childhood, adolescent, and young adulthood cancer risk in BRCA1 or BRCA2 pathogenic variant carriers. JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE, 117 (4). pp. 728-736. ISSN 0027-8874, 1460-2105

Lopriore, Piervito and Legati, Andrea and Neuhofer, Christiane Michaela and Lo Gerfo, Annalisa and Kopajtich, Robert and Barresi, Marco and Cecchi, Giulia and Pavlov, Martin and Izzo, Rossella and Montano, Vincenzo and Caligo, Maria Adelaide and Berutti, Riccardo and Mancuso, Michelangelo and Prokisch, Holger and Ghezzi, Daniele (2025) An inherited mtDNA rearrangement, mimicking a single large-scale deletion, associated with MIDD and a primary cardiological phenotype. MITOCHONDRION, 83: 102037. ISSN 1567-7249, 1872-8278

R

Rive Le Gouard, Nicolas and G. Bah, Maissa and Coarelli, Giulia and Heinzmann, Anna and Fauret, Anne-Laure and de Sainte-Agathe, Jean-Madeleine and Cazeneuve, Cecile and Gerasimenko, Anna and Gras, Domitille and Capri, Yline and Renaud, Mathilde and Brais, Bernard and Grenenko, Cecile and Masurel, Alice and Berquin, Patrick and Jobic, Florence and Metreau, Julia and Deiva, Kumaran and Afenjar, Alexandra and Gravrand, Victor and Lannuzel, Annie and Anheim, Mathieu and Geis, Tobias and Hehr, Ute and Madan Cohen, Jennifer and Desnous, Beatrice and J. A. Kievit, Anneke and Bahi-buisson, Nadia and Rodriguez, Diana and Renaldo, Florence and Cances, Claude and Devos, David and Angelini, Chloe and Goizet, Cyril and Ewenczyk, Claire and Durr, Alexandra and Mignot, Cyril (2025) The Two Faces of Pediatric SCA2. EUROPEAN JOURNAL OF NEUROLOGY, 32 (8): e70314. ISSN 1351-5101, 1468-1331

S

Stoehr, Heidi and Weber, Bernhard H. F. (2025) Focus on degenerative retinal disorders. [["eprint_typename_editorial" not defined]]

Stoehr, Heidi and Weber, Bernhard H. F. (2025) Genetics and diagnostics of inherited retinal diseases in the era of whole genome sequencing. MEDIZINISCHE GENETIK, 37 (1). pp. 3-10. ISSN 0936-5931, 1863-5490

U

Ugalde-Morales, Emilio and Wilf, Rona and Pluta, John and Ploner, Alexander and Fan, Mengyao and Damra, Mohammad and Aben, Katja K. and Anson-Cartwright, Lynn and Chen, Chu and Cortessis, Victoria K. and Daneshmand, Siamak and Ferlin, Alberto and Gamulin, Marija and Gietema, Jourik A. and Gonzalez-Niera, Anna and Grotmol, Tom and Hamilton, Robert J. and Harland, Mark and Haugen, Trine B. and Hauser, Russ and Hildebrandt, Michelle A. T. and Karlsson, Robert and Kiemeney, Lambertus A. and Kim, Jung and Lessel, Davor and Lothe, Ragnhild A. and Loveday, Chey and Chanock, Stephen J. and Mcglynn, Katherine A. and Meijer, Coby and Nead, Kevin T. and Nsengimana, Jeremie and Popovic, Maja and Rafnar, Thorunn and Richiardi, Lorenzo and Rocca, Maria S. and Schwartz, Stephen M. and Skotheim, Rolf I. and Stefansson, Kari and Stewart, Douglas R. and Turnbull, Clare and Vaughn, David J. and Winge, Sofia B. and Zheng, Tongzhang and Monteiro, Alvaro N. and Almstrup, Kristian and Kanetsky, Peter A. and Nathanson, Katherine L. and Wiklund, Fredrik (2025) Identification of genes associated with testicular germ cell tumor susceptibility through a transcriptome-wide association study. AMERICAN JOURNAL OF HUMAN GENETICS, 112 (3). pp. 630-643. ISSN 0002-9297, 1537-6605

Z

Zachariae, Silke and Quante, Anne S. and Kiechle, Marion and Rhiem, Kerstin and Fehm, Tanja N. and Schroeder, Joerg-Gunther and Horvath, Judit and Leinert, Elena and Dikow, Nicola and Ronez, Joelle and Schoenfeld, Mirjam and van Mackelenbergh, Marion T. and Schatz, Ulrich A. and Meisel, Cornelia and Aktas, Bahriye and Witt, Dennis and Mehraein, Yasmin and Weber, Bernhard H. F. and Solbach, Christine and Speiser, Dorothee and Hoyer, Juliane and Faigle-Krehl, Gesine and Much, Christiane D. and Mueller-Rausch, Alma-Verena and Villavicencio-Lorini, Pablo and Banys-Paluchowski, Maggie and Pieh, Daniel and Schmutzler, Rita K. and Fischer, Christine and Engel, Christoph (2025) Calculating Future 10-Year Breast Cancer Risks in Risk-Adapted Surveillance: A Method Comparison and Application in Clinical Practice. CANCER PREVENTION RESEARCH, 18 (2). pp. 85-92. ISSN 1940-6207, 1940-6215