부산대학교 도서관

Efthymiou, Stephanie; Leo, Cailyn P.; Deng, Chenghong; Lin, Sheng-Jia; Maroofian, Reza; Lin, Renee; Karagoz, Irem; Zhang, Kejia; Kaiyrzhanov, Rauan; Scardamaglia, Annarita; Owrang, Daniel; Turchetti, Valentina; Jahnke, Friederike; Huang, Kevin; Petree, Cassidy; V. Derrick, Anna; Rees, Mark I.; Alvi, Javeria Raza; Sultan, Tipu; Li, Chumei; Jacquemont, Marie-Line; Tran-Mau-Them, Frederic; Valenzuela-Palafoll, Maria; Sidlow, Rich; Yoon, Grace; Morrow, Michelle M.; Carere, Deanna Alexis; O'Connor, Mary; Fleischer, Julie; Gerkes, Erica H.; Phornphutkul, Chanika; Isidor, Bertrand; Rivier-Ringenbach, Clotilde; Philippe, Christophe; Kurul, Semra Hiz; Soydemir, Didem; Kara, Bulent; Sunnetci-Akkoyunlu, Deniz; Bothe, Viktoria; Platzer, Konrad; Wieczorek, Dagmar; Koch-Hogrebe, Margarete; Rahner, Nils; Thuresson, Ann-Charlotte; Matsson, Hans, PhD, 1973; Frykholm, Carina; Bozdogan, Sevcan Tug; Bisgin, Atil; Chatron, Nicolas; Lesca, Gaetan; Cabet, Sara; Tumer, Zeynep; Hjortshoj, Tina D.; Ronde, Gitte; Marquardt, Thorsten; Reunert, Janine; Afzal, Erum; Zamani, Mina; Azizimalamiri, Reza; Galehdari, Hamid; Nourbakhsh, Pardis; Chamanrou, Niloofar; Chung, Seo-Kyung; Suri, Mohnish; Benke, Paul J.; Zaki, Maha S.; Gleeson, Joseph G.; Calame, Daniel G.; Pehlivan, Davut; Yilmaz, Halil I.; Gezdirici, Alper; Rad, Aboulfazl; Abumansour, Iman Sabri; Oprea, Gabriela; Bereketoglu, Muhammed Burak; Banneau, Guillaume; Julia, Sophie; Zeighami, Jawaher; Ashoori, Saeed; Shariati, Gholamreza; Sedaghat, Alireza; Sabri, Alihossein; Hamid, Mohammad; Parvas, Sahere; Tajudin, Tajul Arifin; Abdullah, Uzma; Baig, Shahid Mahmood; Chung, Wendy K.; Glazunova, Olga O.; Sabine, Sigaudy; Cheema, Huma Arshad; Zifarelli, Giovanni; Bauer, Peter; Sidpra, Jai; Mankad, Kshitij; Vona, Barbara; Fry, Andrew E.; Varshney, Gaurav K.; Houlden, Henry; Fu, Dragony

American Journal of Human Genetics. 112(5)

Hashimoto, Akiko Soneda ; Yu, Jianshi ; Williams, Christina ; Gaudenz, Karin ; Varshosaz, Parisa ; Zhao, Ruonan ; Pilli, Nageswara ; Liu, Tian ; Russell, Jonathon ; Tooze, Rebecca S. ; Twigg, Stephen R.F. ; Banka, Siddharth ; Sweeney, Elizabeth ; McGowan, Simon J. ; Knight, Samantha J.L. ; Taylor, Jenny C. ; Froukh, Tawfiq Jamal ; Palafoll, M. Irene Valenzuela ; Martínez-Gil, Núria ; Costa-Roger, Mar ; Villarreal-Molina, Maria Teresa ; Lieberman Hernandez, Esther ; Abou Jamra, Rami ; Gattermann, Felix ; Koch-Hogrebe, Margarete ; Wieczorek, Dagmar ; Trainor, Paul A. ; Moise, Alexander R. ; Wilkie, Andrew O.M. ; Kane, Maureen A.

In Genetics in Medicine Open March 2025

Stephanie Efthymiou; Cailyn P Leo; Chenghong Deng; Kejia Zhang; Sheng-Jia Lin; Reza Maroofian; Rauan Kaiyrzhanov; Renee Lin; Irem Karagoz; Annarita Scardamaglia; Daniel Owrang; Valentina Turchetti; Friederike Jahnke; Cassidy Petree; Anna V Derrick; Mark I Rees; Javeria Raza Alvi; Tipu Sultan; Chumei Li; Marie-Line Jacquemont; Frederic Tran-Mau-Them; Maria Valenzuela-Palafoll; Rich Sidlow; Grace Yoon; Michelle Morrow; Alexis Carere; Mary O’Connor; Julie Fleischer; Erica H Gerkes; Chanika Phornphutkul; Bertrand Isidor; Clotilde Rivier-Ringenbach; Christophe Philippe; Semra H Kurul; Didem Soydemir; Bulent Kara; Deniz Sunnetci-Akkoyunlu; Viktoria Bothe; Konrad Platzer; Dagmar Wieczorek; Margarete Koch-Hogrebe; Nils Rahner; Ann-Charlotte Thuresson; Hans Matsson; Carina Frykholm; Sevcan Tuğ Bozdoğan; Atıl Bişgin; Nicolas Chatron; Gaetan Lesca; Sara Cabet; Zeynep Tümer; Tina D Hjortshøj; Gitte Rønde; Thorsten Marquardt; Janine Reunert; Erum Afzal; Mina Zamani; Reza Azizimalamiri; Hamid Galehdari; Pardis Nourbakhshd; Niloofar Chamanrou; Seo-Kyung Chung; Mohnish Suri; Paul J Benke; Maha S Zaki; Joseph G Gleeson; Daniel G Calame; Davut Pehlivan; Halil I Yilmaz; Alper Gezdirici; Aboulfazl Rad; Iman Sabri Abumansour; Gabriela Oprea; Jai Sidpra; Kshitij Mankad; Barbara Vona; Andrew E Fry; Gaurav K Varshney; Henry Houlden; Dragony Fu

Johannesen, Katrine M; Liu, Yuanyuan; Koko, Mahmoud; Gjerulfsen, Cathrine E; Sonnenberg, Lukas; Schubert, Julian; Fenger, Christina D; Eltokhi, Ahmed; Rannap, Maert; Koch, Nils A; Lauxmann, Stephan; Krüger, Johanna; Kegele, Josua; Canafoglia, Laura; Franceschetti, Silvana; Mayer, Thomas; Rebstock, Johannes; Zacher, Pia; Ruf, Susanne; Alber, Michael; Sterbova, Katalin; Lassuthová, Petra; Vlckova, Marketa; Lemke, Johannes R; Platzer, Konrad; Krey, Ilona; Heine, Constanze; Wieczorek, Dagmar; Kroell-Seger, Judith; Lund, Caroline; Klein, Karl Martin; Au, P Y Billie; Rho, Jong M; Ho, Alice W; Masnada, Silvia; Veggiotti, Pierangelo; Giordano, Lucio; Accorsi, Patrizia; Hoei-Hansen, Christina E; Striano, Pasquale; Zara, Federico; Verhelst, Helene; Verhoeven, Judith S; Braakman, Hilde M H; van der Zwaag, Bert; Harder, Aster V E; Brilstra, Eva; Pendziwiat, Manuela; Lebon, Sebastian; Vaccarezza, Maria; Le, Ngoc Minh; Christensen, Jakob; Grønborg, Sabine; Scherer, Stephen W; Howe, Jennifer; Fazeli, Walid; Howell, Katherine B; Leventer, Richard; Stutterd, Chloe; Walsh, Sonja; Gerard, Marion; Gerard, Bénédicte; Matricardi, Sara; Bonardi, Claudia M; Sartori, Stefano; Berger, Andrea; Hoffman-Zacharska, Dorota; Mastrangelo, Massimo; Darra, Francesca; Vøllo, Arve; Motazacker, M Mahdi; Lakeman, Phillis; Nizon, Mathilde; Betzler, Cornelia; Altuzarra, Cecilia; Caume, Roseline; Roubertie, Agathe; Gélisse, Philippe; Marini, Carla; Guerrini, Renzo; Bilan, Frederic; Tibussek, Daniel; Koch-Hogrebe, Margarete; Perry, M Scott; Ichikawa, Shoji; Dadali, Elena; Sharkov, Artem; Mishina, Irina; Abramov, Mikhail; Kanivets, Ilya; Korostelev, Sergey; Kutsev, Sergey; Wain, Karen E; Eisenhauer, Nancy; Wagner, Monisa; Savatt, Juliann M; Müller-Schlüter, Karen; Bassan, Haim; Borovikov, Artem; Nassogne, Marie Cecile; Destrée, Anne; Schoonjans, An Sofie; Meuwissen, Marije; Buzatu, Marga; Jansen, Anna; Scalais, Emmanuel; Srivastava, Siddharth; Tan, Wen Hann; Olson, Heather E; Loddenkemper, Tobias; Poduri, Annapurna; Helbig, Katherine L; Helbig, Ingo; Fitzgerald, Mark P; Goldberg, Ethan M; Roser, Timo; Borggraefe, Ingo; Brünger, Tobias; May, Patrick; Lal, Dennis; Lederer, Damien; Rubboli, Guido; Heyne, Henrike O; Lesca, Gaetan; Hedrich, Ulrike B S; Benda, Jan; Gardella, Elena; Lerche, Holger; Møller, Rikke S

Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B N, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, 'Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications', Brain, vol. 145, no. 9, pp. 2991-3009. https://doi.org/10.1093/brain/awab321
Brain, Vol. 145, no.9, p. 2991-3009 (2022)
Brain
Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, ' Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications ', Brain, vol. 145, no. 9, pp. 2991-3009 . https://doi.org/10.1093/brain/awab321
Johannesen, K M, Liu, Y, Gjerulfsen, C E, Koko, M, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N, Lauxmann, S, Krueger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthova, P, Vlckova, M, Lemke, J, Krey, I, Heine, C, Wieczorek, D, Kroell, J, Lund, C, Klein, K M, Au, P B, Rho, J, Ho, A, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoi-Hansen, C, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, van der Zwaag, B, Harder, A, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Schmidt-Petersen, M, Gronborg, S, Scherer, S, Howe, J, Fazeli, W, Howell, K, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vollo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caumes, R, Roubertie, A, Gelisse, P, Marini, C, Guerrini, R, Bilan, F, Koch-Hogrebe, M, Perry, S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J, Mueller-Schlueter, K, Bassan, H, Borovikov, A, Nassogne, M-C, Destree, A, Schoonjans, A-S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W-H, Olson, H, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M, Goldberg, E M, Roser, T, Borggrafe, I, Brunger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Lesca, G, Hedrich, U, Benda, J, Gardella, E, Lerche, H & Moeller, R S 2021, ' Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications ', Epilepsia, vol. 62, no. Suppl. 3, 80, pp. 34-36 . https://doi.org/10.1111/epi.17079
Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, 'Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications', Brain, vol. 145, no. 9, pp. 2991-3009. https://doi.org/10.1093/brain/awab321

Matthew N Bainbridge; Aloran Mazumder; Daisuke Ogasawara; Rami Abou Jamra; Geneviève Bernard; Enrico Bertini; Lydie Burglen; Heidi Cope; Ali Crawford; Alexa Derksen; Leon Dure; Emily Gantz; Margarete Koch-Hogrebe; Anna C E Hurst; Sonal Mahida; Paige Marshall; Alessia Micalizzi; Antonio Novelli; Hongfan Peng; Diana Rodriguez; Shira L Robbins; S Lane Rutledge; Roberta Scalise; Sophia Schließke; Vandana Shashi; Siddharth Srivastava; Isabella Thiffault; Sarah Topol; Maria T Acosta; Margaret Adam; David R Adams; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A Ashley; Mahshid S Azamian; Carlos A Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H Beggs; Edward Behrens; Gill Bejerano; Jimmy Bennet; Beverly Berg-Rood; Jonathan A Bernstein; Gerard T Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A Burke; Lindsay C Burrage; Manish J Butte; Peter Byers; William E Byrd; John Carey; Olveen Carrasquillo; Thomas Cassini; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao-Tuan Chao; Gary D Clark; Terra R Coakley; Laurel A Cobban; Joy D Cogan; Matthew Coggins; F Sessions Cole; Heather A Colley; Cynthia M Cooper; William J Craigen; Andrew B Crouse; Michael Cunningham; Precilla D’Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G Dayal; Matthew Deardorff; Esteban C Dell’Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L Doss; Emilie D Douine; Laura Duncan; Dawn Earl; David J Eckstein; Lisa T Emrick; Christine M Eng; Cecilia Esteves; Marni Falk; Liliana Fernandez; Elizabeth L Fieg; Paul G Fisher; Brent L Fogel; Irman Forghani; William A Gahl; Ian Glass; Bernadette Gochuico; Rena A Godfrey; Katie Golden-Grant; Madison P Goldrich; Alana Grajewski; Irma Gutierrez; Don Hadley; Sihoun Hahn; Rizwan Hamid; Kelly Hassey; Nichole Hayes; Frances High; Anne Hing; Fuki M Hisama; Ingrid A Holm; Jason Hom; Martha Horike-Pyne; Alden Huang; Yong Huang; Wendy Introne; Rosario Isasi; Kosuke Izumi; Fariha Jamal; Gail P Jarvik; Jeffrey Jarvik; Suman Jayadev; Orpa Jean-Marie; Vaidehi Jobanputra; Lefkothea Karaviti; Jennifer Kennedy; Shamika Ketkar; Dana Kiley; Gonench Kilich; Shilpa N Kobren; Isaac S Kohane; Jennefer N Kohler; Deborah Krakow; Donna M Krasnewich; Elijah Kravets; Susan Korrick; Mary Koziura; Seema R Lalani; Byron Lam; Christina Lam; Grace L LaMoure; Brendan C Lanpher; Ian R Lanza; Kimberly LeBlanc; Brendan H Lee; Roy Levitt; Richard A Lewis; Pengfei Liu; Xue Zhong Liu; Nicola Longo; Sandra K Loo; Joseph Loscalzo; Richard L Maas; Ellen F Macnamara; Calum A MacRae; Valerie V Maduro; Bryan C Mak; May Christine V Malicdan; Laura A Mamounas; Teri A Manolio; Rong Mao; Kenneth Maravilla; Ronit Marom; Gabor Marth; Beth A Martin; Martin G Martin; Julian A Martínez-Agosto; Shruti Marwaha; Jacob McCauley; Allyn McConkie-Rosell; Alexa T McCray; Elisabeth McGee; Heather Mefford; J Lawrence Merritt; Matthew Might; Ghayda Mirzaa; Eva Morava; Paolo M Moretti; Mariko Nakano-Okuno; Stan F Nelson; John H Newman; Sarah K Nicholas; Deborah Nickerson; Shirley Nieves-Rodriguez; Donna Novacic; Devin Oglesbee; James P Orengo; Laura Pace; Stephen Pak; J Carl Pallais; Christina G S Palmer; Jeanette C Papp; Neil H Parker; John A Phillips III; Jennifer E Posey; Lorraine Potocki; Barbara N Pusey; Aaron Quinlan; Wendy Raskind; Archana N Raja; Deepak A Rao; Anna Raper; Genecee Renteria; Chloe M Reuter; Lynette Rives; Amy K Robertson; Lance H Rodan; Jill A Rosenfeld; Natalie Rosenwasser; Francis Rossignol; Maura Ruzhnikov; Ralph Sacco; Jacinda B Sampson; Mario Saporta; C Ron Scott; Judy Schaechter; Timothy Schedl; Kelly Schoch; Daryl A Scott; Jimann Shin; Edwin K Silverman; Janet S Sinsheimer; Kathy Sisco; Edward C Smith; Kevin S Smith; Emily Solem; Lilianna Solnica-Krezel; Ben Solomon; Rebecca C Spillmann; Joan M Stoler; Jennifer A Sullivan; Kathleen Sullivan; Angela Sun; Shirley Sutton; David A Sweetser; Virginia Sybert; Holly K Tabor; Amelia L M Tan; Queenie K-G Tan; Mustafa Tekin; Fred Telischi; Willa Thorson; Cynthia J Tifft; Camilo Toro; Alyssa A Tran; Brianna M Tucker; Tiina K Urv; Adeline Vanderver; Matt Velinder; Dave Viskochil; Tiphanie P Vogel; Colleen E Wahl; Stephanie Wallace; Nicole M Walley; Melissa Walker; Jennifer Wambach; Jijun Wan; Lee-kai Wang; Michael F Wangler; Patricia A Ward; Daniel Wegner; Monika Weisz-Hubshman; Mark Wener; Tara Wenger; Katherine Wesseling Perry; Monte Westerfield; Matthew T Wheeler; Jordan Whitlock; Lynne A Wolfe; Kim Worley; Changrui Xiao; Shinya Yamamoto; John Yang; Diane B Zastrow; Zhe Zhang; Chunli Zhao; Stephan Zuchner; Hugo Bellen; Rachel Mahoney; Leila Qebibo; Dagmar Wieczorek; Benjamin Cravatt; Svasti Haricharan; Ali Torkamani; Jennifer Friedman

Brain

Ruault, Valentin; Burger, Pauline; Gradels-Hauguel, Johanna; Ruiz, Nathalie; Jamra, Rami Abou; Afenjar, Alexandra; Alembik, Yves; Alessandri, Jean‐luc; Arpin, Stéphanie; Barcia, Giulia; Bendová, Šárka; Bruel, Ange‐line; Charles, Perrine; Chatron, Nicolas; Chopra, Maya; Conrad, Solène; Daire, Valérie Cormier; Cospain, Auriane; Coubes, Christine; Coursimault, Juliette; Delahaye-Duriez, Andrée; Doco, Martine; Dufour, William; Durand, Benjamin; Engel, Camille; Faivre, Laurence; Ferroul, Fanny; Fradin, Mélanie; Frenkiel, Hélène; Fusco, Carlo; Garavelli, Livia; Garde, Aurore; Gerard, Bénédicte; Germanaud, David; Goujon, Louise; Gouronc, Aurélie; Ginglinger, Emmanuelle; Goldenberg, Alice; Hancarova, Miroslava; Havlovicová, Markéta; Heron, Delphine; Isidor, Bertrand; Marçais, Nolwenn Jean; Keren, Boris; Koch-Hogrebe, Margarete; Kuentz, Paul; Lamure, Victoria; Lebre, Anne‐sophie; Lecoquierre, François; Lehman, Natacha; Lesca, Gaetan; Lyonnet, Stanislas; Martin, Delphine; Mignot, Cyril; Neuhann, Teresa, M; Nicolas, Gaël; Nizon, Mathilde; Petit, Florence; Philippe, Christophe; Piton, Amélie; Pollazzon, Marzia; Prchalová, Darina; Putoux, Audrey; Rio, Marlène; Rondeau, Sophie; Rossi, Massimiliano; Sabbagh, Quentin; Saugier-Veber, Pascale; Schmetz, Ariane; Steffann, Julie; Thauvin-Robinet, Christel; Toutain, Annick; Them, Frederic Tran Mau; Trimarchi, Gabriele; Vincent, Marie; Vlčková, Markéta; Wieczorek, Dagmar; Willems, Marjolaine; Yauy, Kevin; Zelinová, Michaela; Ziegler, Alban; Chaumette, Boris; Sadikovic, Bekim; Mandel, Jean‐louis; Geneviève, David; Ithaca, ERN

Mol Genet Genomic Med

Luisa Averdunk; Heinrich Sticht; Harald Surowy; Hermann-Josef Lüdecke; Margarete Koch-Hogrebe; Hessa S. Alsaif; Kimia Kahrizi; Hamad Alzaidan; Bashayer S. Alawam; Mohamed Tohary; Cornelia Kraus; Sabine Endele; Erin Wadman; Julie D. Kaplan; Stephanie Efthymiou; Hossein Najmabadi; André Reis; Fowzan S. Alkuraya; Dagmar Wieczorek

J Mol Med (Berl)

Duncan, Anna R; Polovitskaya, Maya M; Gaitán-Peñas, Héctor; Bertelli, Sara; VanNoy, Grace E; Grant, Patricia E; O’Donnell-Luria, Anne; Valivullah, Zaheer; Lovgren, Alysia Kern; England, Elaina M; Agolini, Emanuele; Madden, Jill A; Schmitz-Abe, Klaus; Kritzer, Amy; Hawley, Pamela; Novelli, Antonio; Alfieri, Paolo; Colafati, Giovanna Stefania; Wieczorek, Dagmar; Platzer, Konrad; Luppe, Johannes; Koch-Hogrebe, Margarete; Jamra, Rami Abou; Neira-Fresneda, Juanita; Lehman, Anna; Boerkoel, Cornelius F; Seath, Kimberly; Clarke, Lorne; Study, CAUSES; van Ierland, Yvette; Argilli, Emanuela; Sherr, Elliott H; Maiorana, Andrea; Diel, Thilo; Hempel, Maja; Bierhals, Tatjana; Estévez, Raúl; Jentsch, Thomas J; Pusch, Michael; Agrawal, Pankaj B

American Journal of Human Genetics, vol 108, iss 8

Susan M. White; Elizabeth Bhoj; Christoffer Nellåker; Augusta M.A. Lachmeijer; Aren E. Marshall; Kym M. Boycott; Dong Li; Wendy Smith; Taila Hartley; Arran McBride; Michelle E. Ernst; Alison S. May; Dagmar Wieczorek; Rami Abou Jamra; Margarete Koch-Hogrebe; Katrin Õunap; Sander Pajusalu; K.L.I. van Gassen; Simon Sadedin; Sara Ellingwood; Tiong Yang Tan; John Christodoulou; Jaime Barea; Paul J. Lockhart; Marjan M. Nezarati; Kristin D. Kernohan

The American Journal of Human Genetics. 108:749-756

Uggenti, Carolina; Lepelley, Alice; Depp, Marine; Badrock, Andrew; Rodero, Mathieu P; El-Daher, Marie-Thérèse; Rice, Gillian; Dhir, Somdutta; Wheeler, Ann; Dhir, Ashish; Albawardi, Waad; Frémond, Marie-Louise; Seabra, Luis; Doig, Jennifer; Blair, Natalie; Martin-Niclos, Maria José; Della Mina, Erika; Rubio-Roldán, Alejandro; García-Pérez, Jose; Sproul, Duncan; Rehwinkel, Jan; Hertzog, Jonny; Boland-Auge, Anne; Olaso, Robert; Deleuze, Jean-François; Baruteau, Julien; Brochard, Karine; Buckley, Jonathan; Cavallera, Vanessa; Cereda, Cristina; de Waele, Liesbeth; Dobbie, Angus; Doummar, Diane; Elmslie, Frances; Koch-Hogrebe, Margarete; Kumar, Ram; Lamb, Kate; Livingston, John; Majumdar, Anirban; Lorenço, Charles Marques; Orcesi, Simona; Peudenier, Sylviane; Rostasy, Kevin; Salmon, Caroline; Scott, Christiaan; Tonduti, Davide; Touati, Guy; Valente, Marialuisa; van Der Linden, Hélio; van Esch, Hilde; Vermelle, Marie; Webb, Kate; Jackson, Andrew; Reijns, Martin; Gilbert, Nick; Crow, Yanick

RISalud-ANDALUCIA. Repositorio Institucional de Salud de Andalucía
instname
Uggenti, C, Lepelley, A, Depp, M, Badrock, A P, Rodero, M P, El-Daher, M-T, Rice, G I, Dhir, S, Wheeler, A P, Dhir, A, Albawardi, W, Frémond, M-L, Seabra, L, Doig, J, Blair, N, Martin-Niclos, M J, Della Mina, E, Rubio-Roldán, A, García-Pérez, J L, Sproul, D, Rehwinkel, J, Hertzog, J, Boland-Auge, A, Olaso, R, Deleuze, J, Baruteau, J, Brochard, K, Buckley, J, Cavallera, V, Cereda, C, De Waele, L M H, Dobbie, A, Doummar, D, Elmslie, F, Koch-Hogrebe, M, Kumar, R, Lamb, K, Livingston, J H, Majumdar, A, Lorenço, C M, Orcesi, S, Peudenier, S, Rostasy, K, Salmon, C A, Scott, C, Tonduti, D, Touati, G, Valente, M, Van Der Linden Jr, H, Van Esch, H, Vermelle, M, Webb, K, Jackson, A P, Reijns, M A M, Gilbert, N & Crow, Y J 2020, ' cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing ', Nature Genetics, vol. 52, no. 12, pp. 1364-1372 . https://doi.org/10.1038/s41588-020-00737-3
Uggenti, C, Lepelley, A, Depp, M, Badrock, A P, Rodero, M P, El-Daher, M-T, Rice, G I, Dhir, S, Wheeler, A P, Dhir, A, Albawardi, W, Fremond, M-L, Seabra, L, Doig, J, Blair, N, Martin-Niclos, M J, Della Mina, E, Rubio-Roldan, A, Garcia-Perez, J L, Sproul, D, Rehwinkel, J, Hertzog, J, Boland-Auge, A, Olaso, R, Deleuze, J-F, Baruteau, J, Brochard, K, Buckley, J, Cavallera, V, Cereda, C, De Waele, L M H, Dobbie, A, Doummar, D, Elmslie, F, Koch-Hogrebe, M, Kumar, R, Lamb, K, Livingston, J H, Majumdar, A, Lorenco, C M, Orcesi, S, Peudenier, S, Rostasy, K, Salmon, C A, Scott, C, Tonduti, D, Touati, G, Valente, M, van der Linden, H J, Van Esch, H, Vermelle, M, Webb, K, Jackson, A P, Reijns, M A M, Gilbert, N & Crow, Y J 2020, 'cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing', Nature Genetics, vol. 52, no. 12, pp. 1364-1372. https://doi.org/10.1038/s41588-020-00737-3
Nature Genetics

Bart Appelhof; Matias Wagner; Julia Hoefele; Anja Heinze; Timo Roser; Margarete Koch-Hogrebe; Stefan D. Roosendaal; Mohammadreza Dehghani; Mohammad Yahya Vahidi Mehrjardi; Erin Torti; Henry Houlden; Reza Maroofian; Farrah Rajabi; Heinrich Sticht; Frank Baas; Dagmar Wieczorek; Rami Abou Jamra

Eur J Hum Genet
Eur. J. Hum. Genet. 29, 411–421 (2020)

David Geneviève; Valentin Ruault; Pauline Burger; Johanna Gradels-Hauguel; Nathalie Ruiz-Pallares; Xtraordinaire Association; Rami Abou Jamra; Alexandra Afenjar; Yves Alembik; Jean-Luc Alessandri; Arpin Stéphanie; Giulia Barcia; Šárka Bendová; Ange-Line Bruel; Perrine Charles; Nicolas Chatron; Maya Chopra; Solène Conrad; Valérie Cormier-Daire; Auriane Cospain; Christine Coubes; Juliette Coursimault; Andrée Delahaye-Duriez; Martine Doco-Fenzy; William Dufour; Benjamin Durand; Camille ENGEL; Laurence Faivre; Fanny Ferroul; Mélanie FRADIN; Hélène Frenkiel; Carlo Fusco; Livia Garavelli; Aurore Garde; Bénédicte Gérard; David Germanaud; Louise Goujon; Aurélie Gouronc; Emmanuelle Ginglinger; Alice Goldenberg; Miroslava Hancarova; Delphine Héron; Bertrand Isidor; Nolwenn Jean Marçais; Boris Keren; Margarete Koch-Hogrebe; Paul Kuentz; Victoria Lamure; Anne-Sophie Lebre; François Lecoquierre; Natacha Lehman; Gaetan Lesca; Stanislas Lyonnet; Delphine Martin; Cyril Mignot; Teresa Neuhann; Gaël Nicolas; Mathilde Nizon; Florence Petit; Christophe Philippe; Amélie Piton; Marzia Pollazzon; Darina Prchalova; Audrey Putoux; Marlène RIO; Sophie Rondeau; Massimiliano Rossi; Quentin Sabbagh; Pascale Saugier-Veber; Ariane Schmetz; Julie Steffann; Christel Thauvin-Robinet; Annick Toutain; Frédéric Tran-Mau-Them; Gabriele Trimarchi; Marie Vincent; Marketa Vlckova; Dagmar Wieczorek; Marjolaine Willems; kevin yauy; Michaela Zelinová; Alban Ziegler; Boris Chaumette; Bekim Sadikovic; Jean-Louis Mandel

Antje Kampmeier; Elsa Leitão; Ilaria Parenti; Jasmin Beygo; Christel Depienne; Nuria C Bramswig; Tzung-Chien Hsieh; Alexandra Afenjar; Stefanie Beck-Wödl; Ute Grasshoff; Tobias B Haack; Emilia K Bijlsma; Claudia Ruivenkamp; Eva Lausberg; Miriam Elbracht; Maria K Haanpää; Hannele Koillinen; Uwe Heinrich; Imma Rost; Rami Abou Jamra; Denny Popp; Margarete Koch-Hogrebe; Kevin Rostasy; Vanesa López-González; María José Sanchez-Soler; Catarina Macedo; Ariane Schmetz; Carmen Steinborn; Sabine Weidensee; Hellen Lesmann; Felix Marbach; Pilar Caro; Christian P. Schaaf; Peter Krawitz; Dagmar Wieczorek; Frank J Kaiser; Alma Kuechler

Frontiers in Cell and Developmental Biology, Vol 10 (2023)

Sina Renner; Helke Schüler; Malik Alawi; Verena Kolbe; Meike Rybczynski; Rixa Woitschach; Sara Sheikhzadeh; Veronika C. Stark; Jakob Olfe; Elke Roser; Friederike Sophia Seggewies; Adrian Mahlmann; Maja Hempel; Melanie J. Hartmann; Mathias Hillebrand; Dagmar Wieczorek; Alexander Erich Volk; Katja Kloth; Margarete Koch-Hogrebe; Rami Abou Jamra; Diana Mitter; Janine Altmüller; Alexandra Wey-Fabrizius; Christine Petersen; Isabella Rau; Guntram Borck; Christian Kubisch; Thomas S. Mir; Yskert von Kodolitsch; Kerstin Kutsche; Georg Rosenberger

Genetics in Medicine. 21:1832-1841

White, Susan M.; Bhoj, Elizabeth; Nellåker, Christoffer; Lachmeijer, Augusta M.A.; Marshall, Aren E.; Boycott, Kym M.; Li, Dong; Smith, Wendy; Hartley, Taila; McBride, Arran; Ernst, Michelle E.; May, Alison S.; Wieczorek, Dagmar; Abou Jamra, Rami; Koch-Hogrebe, Margarete; Õunap, Katrin; Pajusalu, Sander; van Gassen, K. L.I.; Sadedin, Simon; Ellingwood, Sara; Tan, Tiong Yang; Christodoulou, John; Barea, Jaime; Lockhart, Paul J.; Nezarati, Marjan M.; Kernohan, Kristin D.; Care4Rare Canada Consortium

Song, Fei; Sivalingam, Sugirthan; Horny, Kai; Alanay, Yasemin; Boussard, Philipp; Chirita-Emandi, Adela; Distelmaier, Felix; Gocht, Melanie; Hanker, Britta; Hoff, Norman-Philipp; Kayserili, Hulya; Koch-Hogrebe, Margarete; Karakaya, Mert; Koehrer, Karl; Legius, Eric; Lisfeld, Jasmin; Mangold, Elisabeth; Marschall, Tobias; Racz, Lara; Reifenberger, Julia; Scherens-Chlich, Nadine; Surowy, Harald; Palafoll, Irene; Wieczorek, Dagmar; Redler, Silke

EUROPEAN JOURNAL OF HUMAN GENETICS; NOV 2025, 33 p753-p754, 2p. Supplement: 1

Averdunk, Luisa; Sticht, Heinrich; Surowy, Harald; Lüdecke, Hermann‑Josef; Koch‑Hogrebe, Margarete; Alsaif, Hessa S.; Kahrizi, Kimia; Alzaidan, Hamad; Alawam, Bashayer S.; Tohary, Mohamed; Kraus, Cornelia; Endele, Sabine; Wadman, Erin; Kaplan, Julie D.; Efthymiou, Stephanie; Najmabadi, Hossein; Reis, André; Alkuraya, Fowzan S.; Wieczorek, Dagmar

Journal of Molecular Medicine. 99(12):1769-1770

Katrine M Johannesen; Yuanyuan Liu; Cathrine E Gjerulfsen; Mahmoud Koko; Lukas Sonnenberg; Julian Schubert; Christina D Fenger; Ahmed Eltokhi; Maert Rannap; Nils A. Koch; Stephan Lauxmann; Johanna Krüger; Josua Kegele; Laura Canafoglia; Silvana Franceschetti; Thomas Mayer; Johannes Rebstock; Pia Zacher; Susanne Ruf; Michael Alber; Katalin Sterbova; Petra Lassuthová; Marketa Vlckova; Johannes R Lemke; Ilona Krey; Constanze Heine; Dagmar Wieczorek; Judith Kroell-Seger; Caroline Lund; Karl Martin Klein; PY Billie Au; Jong M Rho; Alice W Ho; Silvia Masnada; Pierangelo Veggiotti; Lucio Giordano; Patrizia Accorsi; Christina E Hoei-Hansen; Pasquale Striano; Federico Zara; Helene Verhelst; Judith S.Verhoeven; Bert van der Zwaag; Aster V. E. Harder; Eva Brilstra; Manuela Pendziwiat; Sebastian Lebon; Maria Vaccarezza; Ngoc Minh Le; Jakob Christensen; Mette U Schmidt-Petersen; Sabine Grønborg; Stephen W Scherer; Jennifer Howe; Walid Fazeli; Katherine B Howell; Richard Leventer; Chloe Stutterd; Sonja Walsh; Marion Gerard; Bénédicte Gerard; Sara Matricardi; Claudia M Bonardi; Stefano Sartori; Andrea Berger; Dorota Hoffman-Zacharska; Massimo Mastrangelo; Francesca Darra; Arve Vøllo; M Mahdi Motazacker; Phillis Lakeman; Mathilde Nizon; Cornelia Betzler; Cecilia Altuzarra; Roseline Caume; Agathe Roubertie; Philippe Gélisse; Carla Marini; Renzo Guerrini; Frederic Bilan; Daniel Tibussek; Margarete Koch-Hogrebe; M Scott Perry; Shoji Ichikawa; Elena Dadali; Artem Sharkov; Irina Mishina; Mikhail Abramov; Ilya Kanivets; Sergey Korostelev; Sergey Kutsev; Karen E Wain; Nancy Eisenhauer; Monisa Wagner; Juliann M Savatt; Karen Müller-Schlüter; Haim Bassan; Artem Borovikov; Marie-Cecile Nassogne; Anne Destrée; An-Sofie Schoonjans; Marije Meuwissen; Marga Buzatu; Anna Jansen; Emmanuel Scalais; Siddharth Srivastava; Wen-Hann Tan; Heather E Olson; Tobias Loddenkemper; Annapurna Poduri; Katherine L Helbig; Ingo Helbig; Mark P Fitzgerald; Ethan M Goldberg; Timo Roser; Ingo Borggraefe; Tobias Brünger; Patrick May; Dennis Lal; Damien Lederer; Guido Rubboli; Gaetan Lesca; Ulrike BS Hedrich; Jan Benda; Elena Gardella; Holger Lerche; Rikke S Møller

Larissa Alice Dreier; Tugba Kapanci; Katharina Lonnemann; Margarete Koch-Hogrebe; Lucia Wiethoff-Ubrig; Markus Rauchenzauner; Markus Blankenburg; Boris Zernikow; Julia Wager; Kevin Rostasy

Children, Vol 8, Iss 9, p 772 (2021)

Nikoletta Nikolaou; Margarete Koch-Hogrebe; Dagmar Wieczorek; Claudia Roll; Johannes Lemke; Kevin Rostasy

Neuropediatrics.