학술논문
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'학술논문'
에서 검색결과 1,698건 | 목록
1~20
Academic Journal
Quinodoz, Mathieu; Rodenburg, Kim; Cvackova, Zuzana; Kaminska, Karolina; de Bruijn, Suzanne E.; Iglesias-Romero, Ana Belén; Boonen, Erica G. M.; Ullah, Mukhtar; Zomer, Nick; Folcher, Marc; Bijon, Jacques; Holtes, Lara K.; Tsang, Stephen H.; Corradi, Zelia; Freund, K. Bailey; Shliaga, Stefanida; Panneman, Daan M.; Hitti-Malin, Rebekkah J.; Ali, Manir; AlTalbishi, Ala’a; Andréasson, Sten; Ansari, Georg; Arno, Gavin; Astuti, Galuh D. N.; Ayuso, Carmen; Ayyagari, Radha; Banfi, Sandro; Banin, Eyal; Barakat, Tahsin Stefan; Barboni, Mirella T. S.; Bauwens, Miriam; Ben-Yosef, Tamar; Bernard, Virginie; Birch, David G.; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J. F.; Branham, Kari; Bremond-Gignac, Dominique; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M.; Burin des Roziers, Cyril; Cadena, Elizabeth L.; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Chadderton, Naomi; Charbel Issa, Peter; Coutinho-Santos, Luísa; Daiger, Stephen P.; De Baere, Elfride; De Bruyne, Marieke; de la Cerda, Berta; De Roach, John N.; De Zaeytijd, Julie; Derks, Ronny; Dhaenens, Claire-Marie; Dudakova, Lubica; Duncan, Jacque L.; Farrar, G. Jane; Feltgen, Nicolas; Fenner, Beau J.; Fernández-Caballero, Lidia; Ferraz Sallum, Juliana M.; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C.; Gilissen, Christian; Gonzàlez-Duarte, Roser; Goto, Kensuke; Griffiths-Jones, Sam; Haack, Tobias B.; Haer-Wigman, Lonneke; Hardcastle, Alison J.; Hayashi, Takaaki; Héon, Elise; Hoefsloot, Lies H.; Hoischen, Alexander; Holtan, Josephine P.; Hoyng, Carel B.; Ibanez, IV, Manuel Benjamin B.; Inglehearn, Chris F.; Iwata, Takeshi; Jensson, Brynjar O.; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C. W.; Knézy, Krisztina; Koenekoop, Robert K.; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M.; Leibu, Rina; Leroy, Bart P.; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R. de J.; Mahieu, Quinten; Mahroo, Omar A.; Manes, Gaël; Mansard, Luke; Martín-Gutiérrez, M. Pilar; Martins, Nelson; Mauring, Laura; McKibbin, Martin; McLaren, Terri L.; Meunier, Isabelle; Michaelides, Michel; Millán, José M.; Mizobuchi, Kei; Mukherjee, Rajarshi; Nagy, Zoltán Zsolt; Neveling, Kornelia; Ołdak, Monika; Oorsprong, Michiel; Pan, Yang; Papachristou, Anastasia; Percesepe, Antonio; Pfau, Maximilian; Pierce, Eric A.; Place, Emily; Ramesar, Raj; Ramond, Francis; Rasquin, Florence Andrée; Rice, Gillian I.; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Sabir, Ataf H.; Sajiki, Ai Fujita; Sánchez-Barbero, Ana Isabel; Sarma, Asodu Sandeep; Sangermano, Riccardo; Santos, Cristina M.; Scarpato, Margherita; Scholl, Hendrik P. N.; Sharon, Dror; Signorini, Sabrina G.; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stefansson, Kari; Stingl, Katarina; Suga, Akiko; Sulem, Patrick; Sullivan, Lori S.; Szabó, Viktória; Szaflik, Jacek P.; Taurina, Gita; Thiadens, Alberta A. H. J.; Toomes, Carmel; Tran, Viet H.; Tsilimbaris, Miltiadis K.; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; Valleix, Sophie; van Aerschot, Joseph; van den Born, L. Ingeborgh; Van Heetvelde, Mattias; Verhoeven, Virginie J. M.; Vincent, Andrea L.; Webster, Andrew R.; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G.; Yoshitake, Kazutoshi; Zenteno, Juan C.; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I.; Lin, Siying; Cremers, Frans P. M.; Lee, Winston; Ellingford, Jamie M.; Stanek, David; Roosing, Susanne; Rivolta, Carlo
Nature Genetics. 58(1):169-179
Academic Journal
Buchberger, Anne; Riedel, Evamaria; Hackenberg, Marie; Mensch, Alexander; Beck‐Woedl, Stefanie; Park, Joohyun; Haack, Tobias B.; Haslinger, Bernhard; Kirschke, Jan; Prokisch, Holger; Hermann, Andreas; Mawrin, Christian; Danek, Adrian; Schoser, Benedikt; Peikert, Kevin; Deschauer, Marcus; Cordts, Isabell
Annals of Clinical and Translational Neurology. January 10, 2026, Vol. 13 Issue 1, p157, 13 p.
Academic Journal
Clinical Neuroradiology: Official Journal of the German, Austrian, and Swiss Societies of Neuroradiology. :1-4
Report
Acharyya, Atreya; Adams, Colin B.; Bangale, Priyadarshini; Bartkoske, J. T.; Benbow, Wystan; Buckley, James H.; Chen, Yu; Christiansen, Jodi; Chromey, Alisha; Duerr, Anne; Errando, Manel; Godoy, Miguel E.; Falcone, Abe; Feng, Qi; Foote, Juniper; Fortson, Lucy; Furniss, Amy; Hanlon, William; Hanna, David; Hervet, Olivier; Hinrichs, Claire E.; Holder, Jamie; Humensky, Thomas B.; Jin, Weidong; Johnson, Madalyn N.; Kaaret, Philip; Kertzman, Mary P.; Kherlakian, Maria; Kieda, David; Kleiner, Tobias K.; Korzoun, Mx. Nikolas; Krennrich, Frank; Kumar, Sajan; Lang, Mark J.; Lundy, Matthew; McGrath, Conor; Meyer, Eileen T.; Millard, Matthew J.; Millis, John; Mooney, Connor; Moriarty, Patrick; Mukherjee, Reshmi; Ning, Wenmeng; O'Brien, Stephan; Ong, Rene A.; Pohl, Martin; Pueschel, Elisa; Quinn, John; Rabinowitz, Pazit L.; Ragan, Ken; Reynolds, Paul; Ribeiro, Deivid; Roache, Emmet Thomas; Ryan, Jamie L.; Sadeh, Iftach; Sadun, Alberto; Saha, Lab; Santander, Marcos; Sembroski, Glenn H.; Shang, Ruo-Yu; Splettstoesser, Megan; Tak, Donggeun; Talluri, Anjana K.; Tucci, James V.; Valverde, Janeth; Williams, David A.; Wong, Sam L.; Woo, Jooyun; Abbasi, R.; Ackermann, M.; Adams, J.; Agarwalla, S. K.; Aguilar, J. A.; Ahlers, M.; Alameddine, J. M.; Amin, N. M.; Andeen, K.; Argüelles, C.; Ashida, Y.; Athanasiadou, S.; Axani, S. N.; Babu, R.; Bai, X.; V., A. Balagopal; Baricevic, M.; Barwick, S. W.; Bash, S.; Basu, V.; Bay, R.; Beatty, J. J.; Tjus, J. Becker; Beise, J.; Bellenghi, C.; BenZvi, S.; Berley, D.; Bernardini, E.; Besson, D. Z.; Blaufuss, E.; Bloom, L.; Blot, S.; Bontempo, F.; Motzkin, J. Y. Book; Meneguolo, C. Boscolo; Böser, S.; Botner, O.; Böttcher, J.; Braun, J.; Brinson, B.; Brisson-Tsavoussis, Z.; Brostean-Kaiser, J.; Brusa, L.; Burley, R. T.; Butterfield, D.; Campana, M. A.; Caracas, I.; Carloni, K.; Carpio, J.; Chattopadhyay, S.; Chau, N.; Chen, Z.; Chirkin, D.; Choi, S.; Clark, B. A.; Coleman, A.; Coleman, P.; Collin, G. H.; Connolly, A.; Conrad, J. M.; Corley, R.; Cowen, D. F.; De Clercq, C.; DeLaunay, J. J.; Delgado, D.; Deng, S.; Desai, A.; Desiati, P.; de Vries, K. D.; de Wasseige, G.; DeYoung, T.; Diaz, A.; Díaz-Vélez, J. C.; Dierichs, P.; Dittmer, M.; Domi, A.; Draper, L.; Dujmovic, H.; Durnford, D.; Dutta, K.; DuVernois, M. A.; Ehrhardt, T.; Eidenschink, L.; Eimer, A.; Eller, P.; Ellinger, E.; Mentawi, S. El; Elsässer, D.; Engel, R.; Erpenbeck, H.; Esmail, W.; Evans, J.; Evenson, P. A.; Fan, K. L.; Fang, K.; Farrag, K.; Fazely, A. R.; Fedynitch, A.; Feigl, N.; Fiedlschuster, S.; Finley, C.; Fischer, L.; Fox, D.; Franckowiak, A.; Fukami, S.; Fürst, P.; Gallagher, J.; Ganster, E.; Garcia, A.; Garcia, M.; Garg, G.; Genton, E.; Gerhardt, L.; Ghadimi, A.; Girard-Carillo, C.; Glaser, C.; Glüsenkamp, T.; Gonzalez, J. G.; Goswami, S.; Granados, A.; Grant, D.; Gray, S. J.; Griffin, S.; Griswold, S.; Groth, K. M.; Guevel, D.; Günther, C.; Gutjahr, P.; Ha, C.; Haack, C.; Hallgren, A.; Halve, L.; Halzen, F.; Hamacher, L.; Hamdaoui, H.; Minh, M. Ha; Handt, M.; Hanson, K.; Hardin, J.; Harnisch, A. A.; Hatch, P.; Haungs, A.; Häußler, J.; Helbing, K.; Hellrung, J.; Hermannsgabner, J.; Heuermann, L.; Heyer, N.; Hickford, S.; Hidvegi, A.; Hill, C.; Hill, G. C.; Hmaid, R.; Hoffman, K. D.; Hori, S.; Hoshina, K.; Hostert, M.; Hou, W.; Huber, T.; Hultqvist, K.; Hünnefeld, M.; Hussain, R.; Hymon, K.; Ishihara, A.; Iwakiri, W.; Jacquart, M.; Jain, S.; Janik, O.; Jansson, M.; Jeong, M.; Jin, M.; Jones, B. J. P.; Kamp, N.; Kang, D.; Kang, W.; Kang, X.; Kappes, A.; Kappesser, D.; Kardum, L.; Karg, T.; Karl, M.; Karle, A.; Katil, A.; Katz, U.; Kauer, M.; Kelley, J. L.; Khanal, M.; Zathul, A. Khatee; Kheirandish, A.; Kiryluk, J.; Klein, S. R.; Kobayashi, Y.; Kochocki, A.; Koirala, R.; Kolanoski, H.; Kontrimas, T.; Köpke, L.; Kopper, C.; Koskinen, D. J.; Koundal, P.; Kowalski, M.; Kozynets, T.; Krieger, N.; Krishnamoorthi, J.; Krishnan, T.; Kruiswijk, K.; Krupczak, E.; Kumar, A.; Kun, E.; Kurahashi, N.; Lad, N.; Gualda, C. Lagunas; Lamoureux, M.; Larson, M. J.; Lauber, F.; Lazar, J. P.; DeHolton, K. Leonard; Leszczyńska, A.; Liao, J.; Lincetto, M.; Liu, Y. T.; Liubarska, M.; Love, C.; Lu, L.; Lucarelli, F.; Luszczak, W.; Lyu, Y.; Madsen, J.; Magnus, E.; Mahn, K. B. M.; Makino, Y.; Manao, E.; Mancina, S.; Mand, A.; Sainte, W. Marie; Mariş, I. C.; Marka, S.; Marka, Z.; Marsee, M.; Martinez-Soler, I.; Maruyama, R.; Mayhew, F.; McNally, F.; Mead, J. V.; Meagher, K.; Mechbal, S.; Medina, A.; Meier, M.; Merckx, Y.; Merten, L.; Mitchell, J.; Montaruli, T.; Moore, R. W.; Morii, Y.; Morse, R.; Moulai, M.; Mukherjee, T.; Naab, R.; Nakos, M.; Naumann, U.; Necker, J.; Negi, A.; Neste, L.; Neumann, M.; Niederhausen, H.; Nisa, M. U.; Noda, K.; Noell, A.; Novikov, A.; Pollmann, A. Obertacke; O'Dell, V.; Olivas, A.; Orsoe, R.; Osborn, J.; O'Sullivan, E.; Palusova, V.; Pandya, H.; Park, N.; Parker, G. K.; Parrish, V.; Paudel, E. N.; Paul, L.; Heros, C. Pérez de los; Pernice, T.; Peterson, J.; Pizzuto, A.; Plum, M.; Pontén, A.; Popovych, Y.; Rodriguez, M. Prado; Pries, B.; Procter-Murphy, R.; Przybylski, G. T.; Pyras, L.; Raab, C.; Rack-Helleis, J.; Rad, N.; Ravn, M.; Rawlins, K.; Rechav, Z.; Rehman, A.; Resconi, E.; Reusch, S.; Rhode, W.; Riedel, B.; Rifaie, A.; Roberts, E. J.; Robertson, S.; Rodan, S.; Rongen, M.; Rosted, A.; Rott, C.; Ruhe, T.; Ruohan, L.; Safa, I.; Saffer, J.; Salazar-Gallegos, D.; Sampathkumar, P.; Sandrock, A.; Santander, M.; Sarkar, S.; Savelberg, J.; Savina, P.; Schaile, P.; Schaufel, M.; Schieler, H.; Schindler, S.; Schlickmann, L.; Schlüter, B.; Schlüter, F.; Schmeisser, N.; Schmidt, T.; Schneider, J.; Schröder, F. G.; Schumacher, L.; Schwirn, S.; Sclafani, S.; Seckel, D.; Seen, L.; Seikh, M.; Seo, M.; Seunarine, S.; Myhr, P. A. Sevle; Shah, R.; Shefali, S.; Shimizu, N.; Silva, M.; Skrzypek, B.; Smithers, B.; Snihur, R.; Soedingrekso, J.; Søgaard, A.; Soldin, D.; Soldin, P.; Sommani, G.; Spannfellner, C.; Spiczak, G. M.; Spiering, C.; Stachurska, J.; Stamatikos, M.; Stanev, T.; Stezelberger, T.; Stürwald, T.; Stuttard, T.; Sullivan, G. W.; Taboada, I.; Ter-Antonyan, S.; Terliuk, A.; Thiesmeyer, M.; Thompson, W. G.; Thwaites, J.; Tilav, S.; Tollefson, K.; Tönnis, C.; Toscano, S.; Tosi, D.; Trettin, A.; Elorrieta, M. A. Unland; Upadhyay, A. K.; Upshaw, K.; Vaidyanathan, A.; Valtonen-Mattila, N.; Vandenbroucke, J.; van Eijndhoven, N.; Vannerom, D.; van Santen, J.; Vara, J.; Varsi, F.; Veitch-Michaelis, J.; Venugopal, M.; Vereecken, M.; Carrasco, S. Vergara; Verpoest, S.; Veske, D.; Vijai, A.; Walck, C.; Wang, A.; Weaver, C.; Weigel, P.; Weindl, A.; Weldert, J.; Wen, A. Y.; Wendt, C.; Werthebach, J.; Weyrauch, M.; Whitehorn, N.; Wiebusch, C. H.; Williams, D. R.; Witthaus, L.; Wolf, M.; Wrede, G.; Xu, X. W.; Yanez, J. P.; Yildizci, E.; Yoshida, S.; Young, R.; Yu, F.; Yu, S.; Yuan, T.; Zegarelli, A.; Zhang, S.; Zhang, Z.; Zhelnin, P.; Zilberman, P.; Zimmerman, M.; Drake, Pablo; Spira-Savett, Elizabeth; Lusen, Piatra; Mori, Kaya
Academic Journal
Till, Andreas; Siddiqui, Roman A.; Altbürger, Christian; Schwarz, Ronald; Huebner, Tatjana; Wolf, Jürgen; Andres, Dorothee; Anker, Anika; Aretz, Stefan; Haack, Tobias B.; Berlage, Thomas; Beule, Dieter; Boerries, Melanie; Buchhalter, Ivo; Bussmann, Jens; Engel, Christoph; Friedrichs, Juliane; Fröhling, Stefan; Haenisch, Britta; Hahne, Andrea; Hübschmann, Daniel; von Kessel, Friedrich; Klatt, Rudolf; Kreutzfeldt, Simon; Kron, Anna; Krude, Heiko; Lübbe, Anna; Lührig, Uwe; Malek, Nisar; Mertes, Christian; Möller, Yvonne; Mundlos, Christine; Nöthen, Markus M.; Ossowski, Stephan; Pötschke, Luca; Rasokat, Anna; Riess, Olaf; Schade, Sophia; Schirmacher, Peter; Schmutzler, Rita; Scholl, Catharina; Semler, Sebastian C.; Spielmann, Malte; Stegle, Oliver; Stenzinger, Albrecht; Straßburger, Jana; Schröck, Evelin; Krawczak, Michael; Kohlbacher, Oliver
Nature Medicine. :1-4
Academic Journal
Johannes Hilberath; Ilias Tsiflikas; Anna Sanders; Justus Lieber; Tobias Luithle; Tobias B. Haack; Ekkehard Sturm; Jörg Fuchs; Steven Warmann; Christoph Slavetinsky
Orphanet Journal of Rare Diseases, Vol 21, Iss 1, Pp 1-10 (2025)
Academic Journal
Verbinnen, Iris; Douzgou Houge, Sofia; Hsieh, Tzung-Chien; Lesmann, Hellen; Kirchhoff, Aron; Geneviève, David; Brimble, Elise; Lenaerts, Lisa; Haesen, Dorien; Levy, Rebecca J; Thevenon, Julien; Faivre, Laurence; Marco, Elysa; Chong, Jessica X; Bamshad, Mike; Patterson, Karynne; Mirzaa, Ghayda M; Foss, Kimberly; Dobyns, William; White, Susan M; Pais, Lynn; O'Heir, Emily; Itzikowitz, Raphaela; Donald, Kirsten A; Van der Merwe, Celia; Mussa, Alessandro; Cervini, Raffaela; Giorgio, Elisa; Roscioli, Tony; Dias, Kerith-Rae; Evans, Carey-Anne; Brown, Natasha J; Ruiz, Anna; Trujillo Quintero, Juan Pablo; Rabin, Rachel; Pappas, John; Yuan, Hai; Lachlan, Katherine; Thomas, Simon; Devlin, Anita; Wright, Michael; Martin, Richard; Karwowska, Joanna; Posmyk, Renata; Chatron, Nicolas; Stark, Zornitza; Heath, Oliver; Delatycki, Martin; Buchert, Rebecca; Korenke, Georg-Christoph; Ramsey, Keri; Narayanan, Vinodh; Grange, Dorothy K; Weisenberg, Judith L; Haack, Tobias B; Karch, Stephanie; Kipkemoi, Patricia; Mangi, Moses; Bindels de Heus, Karen G C B; de Wit, Marie-Claire Y; Barakat, Tahsin Stefan; Lim, Derek; Van Winckel, Géraldine; Spillmann, Rebecca C; Shashi, Vandana; Jacob, Maureen; Stehr, Antonia M; Krawitz, Peter; Douzgos Houge, Gunnar; Janssens, Veerle
Am J Hum Genet
Academic Journal
Laugwitz, Lucia; Buchert, Rebecca; Olguín, Patricio; Estiar, Mehrdad A.; Atanasova, Mihaela; Jr., Wilson Marques; Enssle, Jörg; Marsden, Brian; Avilés, Javiera; González-Gutiérrez, Andrés; Candia, Noemi; Fabiano, Marietta; Morlot, Susanne; Peralta, Susana; Groh, Alisa; Schillinger, Carmen; Kuehn, Carolin; Sofan, Linda; Sturm, Marc; Bender, Benjamin; Tomaselli, Pedro J.; Diebold, Uta; Mueller, Amelie J.; Spranger, Stephanie; Fuchs, Maren; Freua, Fernando; Melo, Uirá Souto; Mattas, Lauren; Ashtiani, Setareh; Suchowersky, Oksana; Groeschel, Samuel; Rouleau, Guy A.; Yosovich, Keren; Michelson, Marina; Leibovitz, Zvi; Bilal, Muhammad; Uctepe, Eyyup; Yesilyurt, Ahmet; Ozdogan, Orhan; Celik, Tamer; Krägeloh-Mann, Ingeborg; Riess, Olaf; Rosewich, Hendrik; Umair, Muhammad; Lev, Dorit; Zuchner, Stephan; Schweizer, Ulrich; Lynch, David S.; Gan-Or, Ziv; Haack, Tobias B.
Am J Hum Genet
The American Journal of Human Genetics
The American Journal of Human Genetics
Academic Journal
Kaminska, Karolina; Cancellieri, Francesca; Quinodoz, Mathieu; Moye, Abigail R.; Bauwens, Miriam; Lin, Siying; Janeschitz-Kriegl, Lucas; Hayman, Tamar; Barberan-Martinez, Pilar; Schlaeger, Regina; van den Broeck, Filip; Fernandez, Almudena Avila; Fernandez-Caballero, Lidia; Perea-Romero, Irene; Garcia-Garcia, Gema; Salom, David; Mazzola, Pascale; Zuleger, Theresia; Poths, Karin; Haack, Tobias B.; Jacob, Julie; Vermeer, Sascha; Terbeek, Frederique; Feltgen, Nicolas; Moulin, Alexandre P.; Koutroumanou, Louisa; Papadakis, George; Browning, Andrew C.; Madhusudhan, Savita; Granse, Lotta; Banin, Eyal; Sousa, Ana Berta; Santos, Luisa Coutinho; Kuehlewein, Laura; De Angeli, Pietro; Leroy, Bart P.; Mahroo, Omar A.; Sedgwick, Fay; Eden, James; Pfau, Maximilian; Andreasson, Sten; Scholl, Hendrik P.N.; Ayuso, Carmen; Millan, Jose M.; Sharon, Dror; Tsilimbaris, Miltiadis K.; Vaclavik, Veronika; Tran, Hoai; Ben-Yosef, Tamar; De Baere, Elfride; Webster, Andrew R.; Arno, Gavin; Sergouniotis, Panagiotis I.; Kohl, Susanne; Santos, Cristina; Rivolta, Carlo
Am J Hum Genet
AMERICAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
American journal of human genetics, vol. 112, no. 4, pp. 808-828
Kaminska, K, Cancellieri, F, Quinodoz, M, Moye, A R, Bauwens, M, Lin, S, Janeschitz-Kriegl, L, Hayman, T, Barberán-Martínez, P, Schlaeger, R, Van den Broeck, F, Ávila Fernández, A, Fernández-Caballero, L, Perea-Romero, I, García-García, G, Salom, D, Mazzola, P, Zuleger, T, Poths, K,Haack , T B , Jacob, J, Vermeer, S, Terbeek, F, Feltgen, N, Moulin, A P, Koutroumanou, L, Papadakis, G, Browning, A C, Madhusudhan, S, Gränse, L, Banin, E, Sousa, A B , Coutinho Santos, L, Kuehlewein, L, De Angeli, P, Leroy, B P, Mahroo, O A, Sedgwick, F, Eden, J, Pfau, M, Andréasson, S, Scholl, H P N, Ayuso, C, Millán, J M, Sharon, D, Tsilimbaris, M K, Vaclavik, V, Tran, H V, Ben-Yosef, T, De Baere, E, Webster, A R, Arno, G, Sergouniotis, P I, Kohl, S, Santos, C & Rivolta, C 2025, 'Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy', American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2025.02.015
AMERICAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
American journal of human genetics, vol. 112, no. 4, pp. 808-828
Kaminska, K, Cancellieri, F, Quinodoz, M, Moye, A R, Bauwens, M, Lin, S, Janeschitz-Kriegl, L, Hayman, T, Barberán-Martínez, P, Schlaeger, R, Van den Broeck, F, Ávila Fernández, A, Fernández-Caballero, L, Perea-Romero, I, García-García, G, Salom, D, Mazzola, P, Zuleger, T, Poths, K,
Academic Journal
Benita Menden; Rana D. Incebacak Eltemur; German Demidov; Marc Sturm; Joohyun Park; Chrisovalantou Huridou; Florian Fath; Astrid Nümann; Alexander Baumann; Illja J. Diets; Claudia Dufke; Martin Regensburger; Maria Rönnefarth; Vera Wilke; Nienke van Os; Stefan Vielhaber; Tim W. Rattay; Zacharias Kohl; Susana Peralta; Priscila Pereira Sena; Melanie Kellner; Nadine Weissert; Andreas Traschütz; Lena Zeltner; Kai Boelmans; Natalie Deininger; Leon Schütz; Caspar Gross; Ana Beatriz Hinojosa Amaya; Katrin Raupach; Holger Hengel; Florian Harmuth; Jakob Admard; Ingrid Bader; Sarah Baumann; Friedemann Bender; Andrea Bevot; Almut Bischoff; Felix Boschann; Rebecca Buchert; Daniel Buchzik; Nicolas Casadei; Claudia B. Catarino; Isabell Cordts; Kirsten Cremer; Marion Doebler-Neumann; Nadja Ehmke; Miriam Elbracht; Ruth J. Falb; Thomas Feindt; Zofia Fleszar; Lea Gerstner; Dieter Gläser; Ute Grasshoff; Sarah Grosch; Kathrin Grundmann; Alexander Gutschalk; Manja Haaga; Stefanie Hayer; Ute Hehr; Yorck Hellenbroich; Wolfram Henn; Barbara Herr; Rebecca Herzog; Veronka Horber; Jonas Deppe; Nadja Kaiser; Christiane Kehrer; Martin Kehrer; Jan Kern; Christoph Keßler; Katharina Khuller; Hannah Klinkhammer; Urania Kotzaeridou; Peter Krawitz; Martina Kreiss; Hanna Küpper; Alice Kuster; Lucia Laugwitz; Anne Lesemann; Nadine Lichey; Tobias Linden; Boris Macek; Janine Magg; Elisabeth Mangold; Eva Manka; Iris Marquardt; Karl Mehnert; David Mengel; Susanne Morlot; Barbara Oehl-Jaschkowitz; Martje G. Pauly; Melanie Philipp; Florentine Radelfahr; Maren Rautenberg; Angelika Riess; Carsten Saft; Beate Schlotter-Weigel; Axel Schmidt; Eva M. C. Schwaibold; Veronika Spahlinger; Stephanie Spranger; Katharina Marie Steiner; Claudia Stendel; Andreas Thieme; Andreas Tzschach; Ana Velic; Sarah Wiethoff; Carlo Wilke; Stephan Züchner; Simone Zittel; Solve-RD consortium; Ralf A. Husain; Marcus Deschauer; Felix Distelmaier; Andreas Dufke; Holm Graessner; Bernhard Hemmer; Heike Jacobi; Thomas Klockgether; Thomas Klopstock; Xenia Kobeleva; Georg-Christoph Korenke; Alma Kuechler; Gregor Kuhlenbäumer; Ingo Kurth; Huu Phuc Nguyen; Gilbert Wunderlich; Kirsten E. Zeuner; Stephan Klebe; Michaela Auer-Grumbach; Michaela Butryn; Jürgen Winkler; Dagmar Timmann; Matthis Synofzik; Bart van de Warrenburg; Rebecca Schüle; Ludger Schöls; Stephan Ossowski; Olaf Riess; Jonasz J. Weber; Tobias B. Haack
Nature Communications, Vol 17, Iss 1 (2026)
Academic Journal
Kubisch, Christian; Cogne, Benjamin; Rabin, Rachel; Kessler, Elena; Chappé, Céline; Brugger, Melanie; Jorge, Alexander A.L.; Short, John; Posey, Jennifer E.; Szakszon, Katalin; Bedeschi, Maria Francesca; Yuan, Bo; Brunet, Theresa; Chong, Hey J.; Poths, Karin; Josifova, Dragana; Maeding, Nicole; Sidlow, Richard; Nevay, Dayna-Lynn; Mehta, Lakshmi; Gangi, Silvana; Pappas, John; Cope, Heidi; Schrauwen, Isabelle; Hüning, Irina; Banka, Siddharth; Powell-Hamilton, Nina; Lyon, Gholson J.; Wieczorek, Dagmar; Leal, Suzanne M.; Courtin, Thomas; Fernandes, Erica; Harasink, Sue Moyer; Kamsteeg, Erik-Jan; Afenjar, Alexandra; Tan, Queenie K.G.; Marchi, Elaine; Brick, Lauren; Cardenas, Paul; Deb, Wallid; Wagner, Matias; Sullivan, Jennifer; Begtrup, Amber; Platzer, Konrad; Lessel, Davor; Oegema, Renske; Mancardi, Margherita; Kölbel, Heike; Haack, Tobias B.; Kuechler, Alma; Capra, Valeria; Fitzgerald, Kristi K.; Baresic, Anja; Chinn, Ivan K.; Rezende, Raissa C.; Odent, Sylvie; Kozenko, Mariya; Morel, Chantal F.; Network, Undiagnosed Diseases; Tolosa, Eva; Dubourg, Christèle; Sebastian, Jessica; Keren, Boris; Robert, Leema; Goenka, Anu; Lessel, Ivana; Jin, Jay J.; Gucsavas-Calikoglu, Muge; Chandler, Kate E.; Scala, Marcello; Rekab, Aisha; Madan-Khetarpal, Suneeta; Perilla-Young, Yezmin; Leppälä, Juha; de la Calle-Martín, Oscar; Conboy, Erin; Isidor, Bertrand; George-Abraham, Jaya K.; Järvelä, Irma; May, Jonathan; Dilena, Robertino; Averdunk, Luisa; Luu, Sharon M.; Hanker, Britta; Pastore, Matthew T.; Strunk, Dirk; Nigro, Vincenzo; Elgizouli, Magdeldin; Iascone, Maria; Menendez, Beatriz; Kalinauskiene, Ruta; Besnard, Thomas; Byrne, Susan; Romano, Ferruccio; Lupski, James R.; Brager, Rae; Hadonou, Medard
Am J Hum Genet
American Journal of Human Genetics, 112, 2, pp. 394-413
Undiagnosed Diseases Network, Lessel, I, Baresic, A, Chinn, I K, May, J, Goenka, A, Chandler, K E, Posey, J E, Afenjar, A, Averdunk, L, Bedeschi, M F, Besnard, T, Brager, R, Brick, L, Brugger, M, Brunet, T, Byrne, S, Calle-Martín, O D L, Capra, V, Cardenas, P, Chappé, C, Chong, H J, Cogne,B , Conboy, E, Cope, H, Courtin, T, Deb, W, Dilena, R, Dubourg, C, Elgizouli, M, Fernandes, E, Fitzgerald, K K, Gangi, S, George-Abraham, J K, Gucsavas-Calikoglu, M, Haack , T B , Hadonou, M, Hanker, B , Hüning, I, Iascone, M, Isidor, B , Järvelä, I, Jin, J J, Jorge, A A L, Josifova, D, Kalinauskiene, R, Kamsteeg, E-J, Keren, B , Kessler, E, Kölbel, H & Banka, S 2025, 'DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders', American Journal of Human Genetics, vol. 112, no. 2, pp. 394-413. https://doi.org/10.1016/j.ajhg.2024.12.012
The American Journal of Human Genetics
American Journal of Human Genetics, 112, 2, pp. 394-413
Undiagnosed Diseases Network, Lessel, I, Baresic, A, Chinn, I K, May, J, Goenka, A, Chandler, K E, Posey, J E, Afenjar, A, Averdunk, L, Bedeschi, M F, Besnard, T, Brager, R, Brick, L, Brugger, M, Brunet, T, Byrne, S, Calle-Martín, O D L, Capra, V, Cardenas, P, Chappé, C, Chong, H J, Cogne,
The American Journal of Human Genetics
Academic Journal
Gruenebach, Frank; Haack, Tobias B.; Doering, Michaela; Merz, Britta; Petz, Antje; Bauer, Christine; Storz, Martina; Lang, Peter; Klein, Reinhild
Academic Journal
Nava, Caroline; Cogne, Benjamin; Santini, Amandine; Leitão, Elsa; Lecoquierre, François; Chen, Yuyang; Stenton, Sarah L.; Besnard, Thomas; Heide, Solveig; Baer, Sarah; Jakhar, Abhilasha; Neuser, Sonja; Keren, Boris; Faudet, Anne; Forlani, Sylvie; Faoucher, Marie; Uguen, Kevin; Platzer, Konrad; Afenjar, Alexandra; Alessandri, Jean-Luc; Andres, Stephanie; Angelini, Chloé; Aral, Bernard; Arveiler, Benoit; Attie-Bitach, Tania; Aubert Mucca, Marion; Banneau, Guillaume; Barakat, Tahsin Stefan; Barcia, Giulia; Baulac, Stéphanie; Beneteau, Claire; Benkerdou, Fouzia; Bernard, Virginie; Bézieau, Stéphane; Bonneau, Dominique; Bonnet-Dupeyron, Marie-Noelle; Boussion, Simon; Boute, Odile; Brischoux-Boucher, Elise; Bryen, Samantha J.; Buratti, Julien; Busa, Tiffany; Caliebe, Almuth; Capri, Yline; Cassinari, Kévin; Caumes, Roseline; Cenni, Camille; Chambon, Pascal; Charles, Perrine; Christodoulou, John; Colson, Cindy; Conrad, Solène; Cospain, Auriane; Coursimault, Juliette; Courtin, Thomas; Couse, Madeline; Coutton, Charles; Creveaux, Isabelle; D’Gama, Alissa M.; Dauriat, Benjamin; de Sainte Agathe, Jean-Madeleine; Del Gobbo, Giulia; Delahaye-Duriez, Andrée; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Dieux-Coeslier, Anne; Do Souto Ferreira, Laura; Doco-Fenzy, Martine; Drukewitz, Stephan; Duboc, Véronique; Dubourg, Christèle; Duffourd, Yannis; Dyment, David; El Chehadeh, Salima; Elmaleh, Monique; Faivre, Laurence; Fennelly, Samuel; Fischer, Hanna; Fradin, Mélanie; Galludec Vaillant, Camille; Ganne, Benjamin; Ghoumid, Jamal; Goel, Himanshu; Gokce-Samar, Zeynep; Goldenberg, Alice; Gonfreville Robert, Romain; Gorokhova, Svetlana; Goujon, Louise; Granier, Victoria; Gras, Mathilde; Greally, John M.; Greiten, Bianca; Gueguen, Paul; Guerrot, Anne-Marie; Guha, Saurav; Guimier, Anne; Haack, Tobias B.; Hadj Abdallah, Hamza; Halleb, Yosra; Harbuz, Radu; Harris, Madeleine; Hentschel, Julia; Héron, Bénédicte; Hitz, Marc-Phillip; Innes, A. Micheil; Jadas, Vincent; Januel, Louis; Jean-Marçais, Nolwenn; Jobanputra, Vaidehi; Jobic, Florence; Jornea, Ludmila; Jost, Céline; Julia, Sophie; Kaiser, Frank J.; Kaschta, Daniel; Kaya, Sabine; Ketteler, Petra; Khadija, Bochra; Kilpert, Fabian; Knopp, Cordula; Kraft, Florian; Krey, Ilona; Lackmy, Marilyn; Laffargue, Fanny; Lambert, Laetitia; Lamont, Ryan; Laugel, Vincent; Laurie, Steven; Lauzon, Julie L.; Lebreton, Louis; Lebrun, Marine; Legendre, Marine; Leguern, Eric; Lehalle, Daphné; Lejeune, Elodie; Lesca, Gaetan; Lesieur-Sebellin, Marion; Levy, Jonathan; Linglart, Agnès; Lyonnet, Stanislas; Lüthy, Kevin; Ma, Alan S.; Mach, Corinne; Mandel, Jean-Louis; Mansour-Hendili, Lamisse; Marcadier, Julien; Marin, Victor; Margot, Henri; Marquet, Valentine; May, Angèle; Mayr, Johannes A.; Meridda, Catherine; Michaud, Vincent; Michot, Caroline; Nadeau, Gwenael; Naudion, Sophie; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; Odent, Sylvie; Olin, Valerie; Osei-Owusu, Ikeoluwa A.; Osmond, Matthew; Õunap, Katrin; Pasquier, Laurent; Passemard, Sandrine; Pauly, Melissa; Patat, Olivier; Pensec, Marine; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Planes, Marc; Poduri, Annapurna; Poirsier, Céline; Pouzet, Antoine; Prince, Bradley; Prouteau, Clément; Pujol, Aurora; Racine, Caroline; Rama, Mélanie; Ramond, Francis; Ranguin, Kara; Raway, Margaux; Reis, André; Renaud, Mathilde; Revencu, Nicole; Richard, Anne-Claire; Riera-Navarro, Lucile; Rius, Rocio; Rodriguez, Diana; Rodriguez-Palmero, Agustí; Rondeau, Sophie; Roser-Unruh, Annika; Rougeot Jung, Christelle; Safraou, Hana; Satre, Véronique; Saugier-Veber, Pascale; Sauvestre, Clément; Schaefer, Elise; Shao, Wanqing; Schanze, Ina; Schlump, Jan-Ulrich; Schlüter Martin, Agatha; Schluth-Bolard, Caroline; Schuhmann, Sarah; Schröder, Christopher; Sebastin, Monisha; Sigaudy, Sabine; Spielmann, Malte; Spodenkiewicz, Marta; St Clair, Laura; Steffann, Julie; Stoeva, Radka; Surowy, Harald; Tarnopolsky, Mark A.; Todosi, Calina; Toutain, Annick; Tran Mau-Them, Frédéric; Unterlauft, Astrid; Van-Gils, Julien; Vanlerberghe, Clémence; Vasileiou, Georgia; Vera, Gabriella; Verdel, André; Verloes, Alain; Vial, Yoann; Vignal, Cédric; Vincent, Marie; Vincent-Delorme, Catherine; Vincent-Devulder, Aline; Vitobello, Antonio; Weber, Sacha; Willems, Marjolaine; Zaafrane-Khachnaoui, Khaoula; Zacher, Pia; Zeltner, Lena; Ziegler, Alban; Galej, Wojciech P.; Dollfus, Hélène; Thauvin, Christel; Boycott, Kym M.; Marijon, Pierre; Lermine, Alban; Malan, Valérie; Rio, Marlène; Kuechler, Alma; Isidor, Bertrand; Drunat, Séverine; Smol, Thomas; Chatron, Nicolas; Piton, Amélie; Nicolas, Gael; Wagner, Matias; Abou Jamra, Rami; Héron, Delphine; Mignot, Cyril; Blanc, Pierre; O’Donnell-Luria, Anne; Whiffin, Nicola; Charbonnier, Camille; Charenton, Clément; Thevenon, Julien; Depienne, Christel
Nature Genetics. :1-15
Academic Journal
Berger, Eva ; Jauss, Robin-Tobias ; Ranells, Judith D. ; Zonic, Emir ; von Wintzingerode, Lydia ; Wilson, Ashley ; Wagner, Johannes ; Tuttle, Annabelle ; Thomas-Wilson, Amanda ; Schulte, Björn ; Rabin, Rachel ; Pappas, John ; Odgis, Jacqueline A. ; Muthaffar, Osama ; Mendez-Fadol, Alejandra ; Lynch, Matthew ; Levy, Jonathan ; Lehalle, Daphné ; Lake, Nicole J. ; Krey, Ilona ; Kozenko, Mariya ; Knierim, Ellen ; Jouret, Guillaume ; Jobanputra, Vaidehi ; Isidor, Bertrand ; Hunt, David ; Hsieh, Tzung-Chien ; Holtz, Alexander M. ; Haack, Tobias B. ; Gold, Nina B. ; Dunstheimer, Désirée ; Donge, Mylène ; Deb, Wallid ; De La Rosa Poueriet, Katlin A. ; Danyel, Magdalena ; Christodoulou, John ; Chopra, Saurabh ; Callewaert, Bert ; Busche, Andreas ; Brick, Lauren ; Bigay, Bary G. ; Arlt, Marie ; Anikar, Swathi S. ; Almohammal, Mohammad N. ; Almanza, Deanna ; Alhashem, Amal ; Bertoli-Avella, Aida ; Sticht, Heinrich ; Abou Jamra, Rami
In Genetics in Medicine May 2025 27(5)
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Deng, Ruizhi ; Perenthaler, Elena ; Nikoncuk, Anita ; Yousefi, Soheil ; Lanko, Kristina ; Schot, Rachel ; Maresca, Michela ; Medico-Salsench, Eva ; Sanderson, Leslie E. ; Parker, Michael J. ; van Ijcken, Wilfred F.J. ; Park, Joohyun ; Sturm, Marc ; Haack, Tobias B. ; Roshchupkin, Gennady V. ; Mulugeta, Eskeatnaf ; Barakat, Tahsin Stefan
In Cell 22 January 2026 189(2):676-695
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Laurie, Steven; Steyaert, Wouter; de Boer, Elke; Polavarapu, Kiran; Schuermans, Nika; Sommer, Anna K.; Demidov, German; Ellwanger, Kornelia; Paramonov, Ida; Thomas, Coline; Aretz, Stefan; Baets, Jonathan; Benetti, Elisa; Bullich, Gemma; Chinnery, Patrick F.; Clayton-Smith, Jill; Cohen, Enzo; Danis, Daniel; de Sainte Agathe, Jean-Madeleine; Denommé-Pichon, Anne-Sophie; Diaz-Manera, Jordi; Efthymiou, Stephanie; Faivre, Laurence; Fernandez-Callejo, Marcos; Freeberg, Mallory; Garcia-Pelaez, José; Guillot-Noel, Lena; Haack, Tobias B.; Hanna, Mike; Hengel, Holger; Horvath, Rita; Houlden, Henry; Jackson, Adam; Johansson, Lennart; Johari, Mridul; Kamsteeg, Erik-Jan; Kellner, Melanie; Kleefstra, Tjitske; Lacombe, Didier; Lochmüller, Hanns; López-Martín, Estrella; Macaya, Alfons; Marcé-Grau, Anna; Maver, Aleš; Morsy, Heba; Muntoni, Francesco; Musacchia, Francesco; Nelson, Isabelle; Nigro, Vincenzo; Olimpio, Catarina; Oliveira, Carla; Paulasová Schwabová, Jaroslava; Pauly, Martje G.; Peterlin, Borut; Peters, Sophia; Pfundt, Rolph; Piluso, Giulio; Piscia, Davide; Posada, Manuel; Reich, Selina; Renieri, Alessandra; Ryba, Lukas; Šablauskas, Karolis; Savarese, Marco; Schöls, Ludger; Schütz, Leon; Steinke-Lange, Verena; Stevanin, Giovanni; Straub, Volker; Sturm, Marc; Swertz, Morris A.; Tartaglia, Marco; te Paske, Iris B. A. W.; Thompson, Rachel; Torella, Annalaura; Trainor, Christina; Udd, Bjarne; Van de Vondel, Liedewei; van de Warrenburg, Bart; van Reeuwijk, Jeroen; Vandrovcova, Jana; Vitobello, Antonio; Vos, Janet; Vyhnálková, Emílie; Wijngaard, Robin; Wilke, Carlo; William, Doreen; Xu, Jishu; Yaldiz, Burcu; Zalatnai, Luca; Zurek, Birte; Brookes, Anthony J.; Evangelista, Teresinha; Gilissen, Christian; Graessner, Holm; Hoogerbrugge, Nicoline; Ossowski, Stephan; Riess, Olaf; Schüle, Rebecca; Synofzik, Matthis; Verloes, Alain; Matalonga, Leslie; Brunner, Han G.; Lohmann, Katja; de Voer, Richarda M.; Töpf, Ana; Vissers, Lisenka E.L.M.; Beltran, Sergi; Hoischen, Alexander
Nature Medicine. 31(2):478-489
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Schmid, Cosima M.; Gregor, Anne; Ruiz, Anna; Manso Bazús, Carmen; Herman, Isabella; Ammouri, Farah; Kotzaeridou, Urania; McNiven, Vanda; Dupuis, Lucie; Steindl, Katharina; Begemann, Anaïs; Rauch, Anita; Suter, Aude-Annick; Isidor, Bertrand; Mercier, Sandra; Nizon, Mathilde; Cogné, Benjamin; Deb, Wallid; Besnard, Thomas; Haack, Tobias B.; Falb, Ruth J.; Müller, Amelie J.; Linden, Tobias; Haldeman-Englert, Chad R.; Ockeloen, Charlotte W.; Mattioli, Francesca; Reymond, Alexandre; Ibrahim, Nazia; Naz, Shagufta; Lacaze, Elodie; Bassetti, Jennifer A.; Hoefele, Julia; Brunet, Theresa; Riedhammer, Korbinian M.; Elloumi, Houda Z.; Person, Richard; Zou, Fanggeng; Kahle, Juliette J.; Cremer, Kirsten; Schmidt, Axel; Delrue, Marie-Ange; Almeida, Pedro M.; Ramos, Fabiana; Srivastava, Siddharth; Quinlan, Aisling; Robertson, Stephen; Manka, Eva; Kuechler, Alma; Spranger, Stephanie; Nowaczyk, Malgorzata J. M.; Elshafie, Reem M.; Alsharhan, Hind; Hillman, Paul R.; Dunnington, Leslie A.; Braakman, Hilde M. H.; McKee, Shane; Moresco, Angelica; Ignat, Andrea-Diana; Newbury-Ecob, Ruth; Banneau, Guillaume; Patat, Olivier; Kuerbitz, Jeffrey; Rzucidlo, Susan; Sell, Susan S.; Gordon, Patricia; Schuhmann, Sarah; Reis, André; Halleb, Yosra; Stoeva, Radka; Keren, Boris; Al Masseri, Zainab; Tümer, Zeynep; Hammer-Hansen, Sophia; Krüger Sølyst, Sofus; Steigerwald, Connolly G.; Abreu, Nicolas J.; Faust, Helene; Müller-Nedebock, Amica; Tran Mau-Them, Frédéric; Sticht, Heinrich; Zweier, Christiane
European Journal of Human Genetics. :1-7
Academic Journal
Laurie, Steven; Steyaert, Wouter; de Boer, Elke; Polavarapu, Kiran; Schuermans, Nika; Sommer, Anna K.; Demidov, German; Ellwanger, Kornelia; Paramonov, Ida; Thomas, Coline; Aretz, Stefan; Baets, Jonathan; Benetti, Elisa; Bullich, Gemma; Chinnery, Patrick F.; Clayton-Smith, Jill; Cohen, Enzo; Danis, Daniel; de Sainte Agathe, Jean-Madeleine; Denommé-Pichon, Anne-Sophie; Diaz-Manera, Jordi; Efthymiou, Stephanie; Faivre, Laurence; Fernandez-Callejo, Marcos; Freeberg, Mallory; Garcia-Pelaez, José; Guillot-Noel, Lena; Haack, Tobias B.; Hanna, Mike; Hengel, Holger; Horvath, Rita; Houlden, Henry; Jackson, Adam; Johansson, Lennart; Johari, Mridul; Kamsteeg, Erik-Jan; Kellner, Melanie; Kleefstra, Tjitske; Lacombe, Didier; Lochmüller, Hanns; López-Martín, Estrella; Macaya, Alfons; Marcé-Grau, Anna; Maver, Aleš; Morsy, Heba; Muntoni, Francesco; Musacchia, Francesco; Nelson, Isabelle; Nigro, Vincenzo; Olimpio, Catarina; Oliveira, Carla; Paulasová Schwabová, Jaroslava; Pauly, Martje G.; Peterlin, Borut; Peters, Sophia; Pfundt, Rolph; Piluso, Giulio; Piscia, Davide; Posada, Manuel; Reich, Selina; Renieri, Alessandra; Ryba, Lukas; Šablauskas, Karolis; Savarese, Marco; Schöls, Ludger; Schütz, Leon; Steinke-Lange, Verena; Stevanin, Giovanni; Straub, Volker; Sturm, Marc; Swertz, Morris A.; Tartaglia, Marco; te Paske, Iris B. A. W.; Thompson, Rachel; Torella, Annalaura; Trainor, Christina; Udd, Bjarne; Van de Vondel, Liedewei; van de Warrenburg, Bart; van Reeuwijk, Jeroen; Vandrovcova, Jana; Vitobello, Antonio; Vos, Janet; Vyhnálková, Emílie; Wijngaard, Robin; Wilke, Carlo; William, Doreen; Xu, Jishu; Yaldiz, Burcu; Zalatnai, Luca; Zurek, Birte; Brookes, Anthony J.; Evangelista, Teresinha; Gilissen, Christian; Graessner, Holm; Hoogerbrugge, Nicoline; Ossowski, Stephan; Riess, Olaf; Schüle, Rebecca; Synofzik, Matthis; Verloes, Alain; Matalonga, Leslie; Brunner, Han G.; Lohmann, Katja; de Voer, Richarda M.; Töpf, Ana; Vissers, Lisenka E.L.M.; Beltran, Sergi; Hoischen, Alexander
Nature Medicine. :1-2
Academic Journal
Witt, Dennis ; Sturm, Marc ; Stäbler, Antje ; Menden, Benita ; Ruisinger, Lisa ; Bosse, Kristin ; Gruber, Ines ; Hartkopf, Andreas ; Gauß, Silja ; Demidov, German ; Casadei, Nicolas ; Atienza, Elena Buena ; Mehnert, Kira ; Witt, Janna ; Gross, Caspar ; Schütz, Leon ; Schroeder, Christopher ; Ossowski, Stephan ; Dufke, Andreas ; Haack, Tobias B. ; Riess, Olaf ; Faust, Ulrike
In The Breast August 2025 82
Academic Journal
Bou-Rouphael, Johnny ; Cospain, Auriane ; Courtin, Thomas ; Keren, Boris ; Marie, Corentine ; Lesieur-Sebellin, Marion ; Heron, Delphine ; de Sainte Agathe, Jean-Madeleine ; Heide, Solveig ; Lejeune, Elodie ; Quelin, Chloe ; Lecoquierre, François ; Nizon, Mathilde ; Isidor, Bertrand ; Besnard, Thomas ; Cogne, Benjamin ; Latypova, Xenia ; Levy, Jonathan ; Joset, Pascal ; Steindl, Katharina ; Palomares-Bralo, Maria ; Santos-Simarro, Fernando ; Thomas, Mary Ann ; Abubakar, Amina ; Lynch, Sally Ann ; Müller, Amelie J. ; Haack, Tobias B. ; Zenker, Martin ; Parker, Michael ; Clossick, Emma ; Spiller, Michael ; Crookes, Renarta ; Holder-Espinasse, Muriel ; Bayat, Allan ; Møller, Rikke S. ; Mieszczanek, Tomasz Stanislaw ; de la Grange, Pierre ; Buratti, Julien ; Marijon, Pierre ; Ataf, Sabir ; Gavin, Ryan ; Parras, Carlos ; Hassan, Bassem A. ; Mignot, Cyril ; El Khattabi, Laïla
In The American Journal of Human Genetics 6 November 2025 112(11):2605-2624
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