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Ghosh, Shereen G.; Becker, Kerstin; Huang, He; Dixon-Salazar, Tracy; Chai, Guoliang; Salpietro, Vincenzo; Al-Gazali, Lihadh; Waisfisz, Quinten; Wang, Haicui; Vaux, Keith K.; Stanley, Valentina; Manole, Andreea; Akpulat, Ugur; Weiss, Marjan M.; Efthymiou, Stephanie; Hanna, Michael G.; Minetti, Carlo; Striano, Pasquale; Pisciotta, Livia; De Grandis, Elisa; Altmüller, Janine; Nürnberg, Peter; Thiele, Holger; Yis, Uluc; [...]Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia SyndromeView onlineSchließen
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Published in: The American Journal of Human Genetics
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Bottomley, Andrew; Pe, Madeline; Sloan, Jeff; Basch, Ethan; Bonnetain, Franck; Calvert, Melanie; Campbell, Alicyn; Cleeland, Charles; Cocks, Kim; Collette, Laurence; Dueck, Amylou C; Devlin, Nancy; Flechtner, Hans-Henning; Gotay, Carolyn; Greimel, Eva; Griebsch, Ingolf; Groenvold, Mogens; Hamel, Jean-Francois; King, Madeleine; Kluetz, Paul G; Koller, Michael; Malone, Daniel C; Martinelli, Francesca; Mitchell, Sandra A; [...]Moving forward toward standardizing analysis of quality of life data in randomized cancer clinical trialsView onlineSchließen
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Published in: Clinical Trials
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Madeo, Marianna; Stewart, Michelle; Sun, Yuyang; Sahir, Nadia; Wiethoff, Sarah; Chandrasekar, Indra; Yarrow, Anna; Rosenfeld, Jill A.; Yang, Yaping; Cordeiro, Dawn; McCormick, Elizabeth M.; Muraresku, Colleen C.; Jepperson, Tyler N.; McBeth, Lauren J.; Seidahmed, Mohammed Zain; El Khashab, Heba Y.; Hamad, Muddathir; Azzedine, Hamid; Clark, Karl; Corrochano, Silvia; Wells, Sara; Elting, Mariet W.; Weiss, Marjan M.; Burn, Sabrina; [...]Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic EncephalopathyView onlineSchließen
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Published in: The American Journal of Human Genetics
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Gräf, Stefan; Haimel, Matthias; Bleda, Marta; Hadinnapola, Charaka; Southgate, Laura; Li, Wei; Hodgson, Joshua; Liu, Bin; Salmon, Richard M.; Southwood, Mark; Machado, Rajiv D.; Martin, Jennifer M.; Treacy, Carmen M.; Yates, Katherine; Daugherty, Louise C.; Shamardina, Olga; Whitehorn, Deborah; Holden, Simon; Aldred, Micheala; Bogaard, Harm J.; Church, Colin; Coghlan, Gerry; Condliffe, Robin; Corris, Paul A.; [...]Identification of rare sequence variation underlying heritable pulmonary arterial hypertensionView onlineSchließen
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Published in: Nature Communications
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Hiatt, Susan M.; Trajkova, Slavica; Sebastiano, Matteo Rossi; Partridge, E. Christopher; Abidi, Fatima E.; Anderson, Ashlyn; Ansar, Muhammad; Antonarakis, Stylianos E.; Azadi, Azadeh; Bachmann-Gagescu, Ruxandra; Bartuli, Andrea; Benech, Caroline; Berkowitz, Jennifer L.; Betti, Michael J.; Brusco, Alfredo; Cannon, Ashley; Caron, Giulia; Chen, Yanmin; Cochran, Meagan E.; Coleman, Tanner F.; Crenshaw, Molly M.; Cuisset, Laurence; Curry, Cynthia J.; Darvish, Hossein; [...]Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotypeView onlineSchließen
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Published in: The American Journal of Human Genetics
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Vianello, Eleonora; Gonzalez-Dias, Patricia; van Veen, Suzanne; Engele, Carmen G; Quinten, Edwin; Monath, Thomas P; Medaglini, Donata; Santoro, Francesco; Huttner, Angela; Dubey, Sheri; Eichberg, Michael; Ndungu, Francis M; Kremsner, Peter G; Essone, Paulin N; Agnandji, Selidji Todagbe; Siegrist, Claire-Anne; Nakaya, Helder I; Ottenhoff, Tom H M; Haks, Mariëlle C; Agnandij, Selidij T; Ahmed, Rafi; Anderson, Jenna; Auderset, Floriane; Bejon, Philip; [...]Transcriptomic signatures induced by the Ebola virus vaccine rVSVΔG-ZEBOV-GP in adult cohorts in Europe, Africa, and North America: a molecular biomarker studyView onlineSchließen
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Published in: The Lancet Microbe
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Dumont, Martine; Weber-Lassalle, Nana; Joly-Beauparlant, Charles; Ernst, Corinna; Droit, Arnaud; Feng, Bing-Jian; Dubois, Stéphane; Collin-Deschesnes, Annie-Claude; Soucy, Penny; Vallée, Maxime; Fournier, Frédéric; Lemaçon, Audrey; Adank, Muriel A.; Allen, Jamie; Altmüller, Janine; Arnold, Norbert; Ausems, Margreet G. E. M.; Berutti, Riccardo; Bolla, Manjeet K.; Bull, Shelley; Carvalho, Sara; Cornelissen, Sten; Dufault, Michael R.; Dunning, Alison M.; [...]Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European AncestryView onlineSchließen
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Published in: Cancers
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Guo, Hui; Bettella, Elisa; Marcogliese, Paul C.; Zhao, Rongjuan; Andrews, Jonathan C.; Nowakowski, Tomasz J.; Gillentine, Madelyn A.; Hoekzema, Kendra; Wang, Tianyun; Wu, Huidan; Jangam, Sharayu; Liu, Cenying; Ni, Hailun; Willemsen, Marjolein H.; van Bon, Bregje W.; Rinne, Tuula; Stevens, Servi J. C.; Kleefstra, Tjitske; Brunner, Han G.; Yntema, Helger G.; Long, Min; Zhao, Wenjing; Hu, Zhengmao; Colson, Cindy; [...]Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disordersView onlineSchließen
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Published in: Nature Communications
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Schmidt, Marjanka K.; Hogervorst, Frans; van Hien, Richard; Cornelissen, Sten; Broeks, Annegien; Adank, Muriel A.; Meijers, Hanne; Waisfisz, Quinten; Hollestelle, Antoinette; Schutte, Mieke; van den Ouweland, Ans; Hooning, Maartje; Andrulis, Irene L.; Anton-Culver, Hoda; Antonenkova, Natalia N.; Antoniou, Antonis C.; Arndt, Volker; Bermisheva, Marina; Bogdanova, Natalia V.; Bolla, Manjeet K.; Brauch, Hiltrud; Brenner, Hermann; Brüning, Thomas; Burwinkel, Barbara; [...]Age- and Tumor Subtype–Specific Breast Cancer Risk Estimates for CHEK2*1100delC CarriersView onlineSchließen
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Published in: Journal of Clinical Oncology
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Pechmann, Astrid; Behrens, Max; Dörnbrack, Katharina; Tassoni, Adrian; Stein, Sabine; Vogt, Sibylle; Zöller, Daniela; Bernert, Günther; Hagenacker, Tim; Schara-Schmidt, Ulrike; Schwersenz, Inge; Walter, Maggie C; Baumann, Matthias; Baumgartner, Manuela; Deschauer, Marcus; Eisenkölbl, Astrid; Flotats-Bastardas, Marina; Hahn, Andreas; Horber, Veronka; Husain, Ralf A; Illsinger, Sabine; Johannsen, Jessika; Köhler, Cornelia; Kölbel, Heike; [...]Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophyView onlineSchließen
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Published in: Brain
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Stephenson, Sarah E.M.; Costain, Gregory; Blok, Laura E.R.; Silk, Michael A.; Nguyen, Thanh Binh; Dong, Xiaomin; Alhuzaimi, Dana E.; Dowling, James J.; Walker, Susan; Amburgey, Kimberly; Hayeems, Robin Z.; Rodan, Lance H.; Schwartz, Marc A.; Picker, Jonathan; Lynch, Sally A.; Gupta, Aditi; Rasmussen, Kristen J.; Schimmenti, Lisa A.; Klee, Eric W.; Niu, Zhiyv; Agre, Katherine E.; Chilton, Ilana; Chung, Wendy K.; Revah-Politi, Anya; [...]Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndromeView onlineSchließen
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Published in: The American Journal of Human Genetics
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Ghoussaini, Maya; Fletcher, Olivia; Michailidou, Kyriaki; Turnbull, Clare; Schmidt, Marjanka K; Dicks, Ed; Dennis, Joe; Wang, Qin; Humphreys, Manjeet K; Luccarini, Craig; Baynes, Caroline; Conroy, Don; Maranian, Melanie; Ahmed, Shahana; Driver, Kristy; Johnson, Nichola; Orr, Nicholas; dos Santos Silva, Isabel; Waisfisz, Quinten; Meijers-Heijboer, Hanne; Uitterlinden, Andre G; Rivadeneira, Fernando; Hall, Per; Czene, Kamila; [...]Genome-wide association analysis identifies three new breast cancer susceptibility lociView onlineSchließen
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Published in: Nature Genetics
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Khan, Sofia; Greco, Dario; Michailidou, Kyriaki; Milne, Roger L.; Muranen, Taru A.; Heikkinen, Tuomas; Aaltonen, Kirsimari; Dennis, Joe; Bolla, Manjeet K.; Liu, Jianjun; Hall, Per; Irwanto, Astrid; Humphreys, Keith; Li, Jingmei; Czene, Kamila; Chang-Claude, Jenny; Hein, Rebecca; Rudolph, Anja; Seibold, Petra; Flesch-Janys, Dieter; Fletcher, Olivia; Peto, Julian; dos Santos Silva, Isabel; Johnson, Nichola; [...]MicroRNA Related Polymorphisms and Breast Cancer RiskView onlineSchließen
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Published in: PLoS ONE
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Siddiq, Afshan; Couch, Fergus J.; Chen, Gary K.; Lindström, Sara; Eccles, Diana; Millikan, Robert C.; Michailidou, Kyriaki; Stram, Daniel O.; Beckmann, Lars; Rhie, Suhn Kyong; Ambrosone, Christine B.; Aittomäki, Kristiina; Amiano, Pilar; Apicella, Carmel; Baglietto, Laura; Bandera, Elisa V.; Beckmann, Matthias W.; Berg, Christine D.; Bernstein, Leslie; Blomqvist, Carl; Brauch, Hiltrud; Brinton, Louise; Bui, Quang M.; Buring, Julie E.; [...]A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11View onlineSchließen
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Published in: Human Molecular Genetics
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Pechmann, Astrid; Behrens, Max; Dörnbrack, Katharina; Tassoni, Adrian; Wenzel, Franziska; Stein, Sabine; Vogt, Sibylle; Zöller, Daniela; Bernert, Günther; Hagenacker, Tim; Schara-Schmidt, Ulrike; Walter, Maggie C.; Bertsche, Astrid; Vill, Katharina; Baumann, Matthias; Baumgartner, Manuela; Cordts, Isabell; Eisenkölbl, Astrid; Flotats-Bastardas, Marina; Friese, Johannes; Günther, René; Hahn, Andreas; Horber, Veronka; Husain, Ralf A.; [...]Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry studyView onlineSchließen
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Published in: Orphanet Journal of Rare Diseases
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Maxwell, Christopher A.; Benítez, Javier; Gómez-Baldó, Laia; Osorio, Ana; Bonifaci, Núria; Fernández-Ramires, Ricardo; Costes, Sylvain V.; Guinó, Elisabet; Chen, Helen; Evans, Gareth J. R.; Mohan, Pooja; Català, Isabel; Petit, Anna; Aguilar, Helena; Villanueva, Alberto; Aytes, Alvaro; Serra-Musach, Jordi; Rennert, Gad; Lejbkowicz, Flavio; Peterlongo, Paolo; Manoukian, Siranoush; Peissel, Bernard; Ripamonti, Carla B.; Bonanni, Bernardo; [...]Interplay between BRCA1 and RHAMM Regulates Epithelial Apicobasal Polarization and May Influence Risk of Breast CancerView onlineSchließen
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Published in: PLoS Biology
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Wu, Lang; Shi, Wei; Long, Jirong; Guo, Xingyi; Michailidou, Kyriaki; Beesley, Jonathan; Bolla, Manjeet K.; Shu, Xiao-Ou; Lu, Yingchang; Cai, Qiuyin; Al-Ejeh, Fares; Rozali, Esdy; Wang, Qin; Dennis, Joe; Li, Bingshan; Zeng, Chenjie; Feng, Helian; Gusev, Alexander; Barfield, Richard T.; Andrulis, Irene L.; Anton-Culver, Hoda; Arndt, Volker; Aronson, Kristan J.; Auer, Paul L.; [...]A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancerView onlineSchließen
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Published in: Nature Genetics
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Schwartz, Oliver; Vill, Katharina; Pfaffenlehner, Michelle; Behrens, Max; Weiß, Claudia; Johannsen, Jessika; Friese, Johannes; Hahn, Andreas; Ziegler, Andreas; Illsinger, Sabine; Smitka, Martin; von Moers, Arpad; Kölbel, Heike; Schreiber, Gudrun; Kaiser, Nadja; Wilichowski, Ekkehard; Flotats-Bastardas, Marina; Husain, Ralf A.; Baumann, Matthias; Köhler, Cornelia; Trollmann, Regina; Schwerin-Nagel, Annette; Eisenkölbl, Astrid; Schimmel, Mareike; [...]Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy : A Nonrandomized Controlled Trial : A Nonrandomized Controlled TrialView onlineSchließen
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Published in: JAMA Pediatrics
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Shu, Xiang; Wu, Lang; Khankari, Nikhil K; Shu, Xiao-Ou; Wang, Thomas J; Michailidou, Kyriaki; Bolla, Manjeet K; Wang, Qin; Dennis, Joe; Milne, Roger L; Schmidt, Marjanka K; Pharoah, Paul D P; Andrulis, Irene L; Hunter, David J; Simard, Jacques; Easton, Douglas F; Zheng, Wei; Alicia, Beeghly-Fadiel J; Anton-Culver, Hoda; Antonenkova, Natalia N; Arndt, Volker; Aronson, Kristan J; Auer, Paul L; Barrdahl, Myrto; [...]Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysisView onlineSchließen
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Published in: International Journal of Epidemiology
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Michailidou, Kyriaki; Beesley, Jonathan; Lindstrom, Sara; Canisius, Sander; Dennis, Joe; Lush, Michael J; Maranian, Mel J; Bolla, Manjeet K; Wang, Qin; Shah, Mitul; Perkins, Barbara J; Czene, Kamila; Eriksson, Mikael; Darabi, Hatef; Brand, Judith S; Bojesen, Stig E; Nordestgaard, Børge G; Flyger, Henrik; Nielsen, Sune F; Rahman, Nazneen; Turnbull, Clare; Fletcher, Olivia; Peto, Julian; Gibson, Lorna; [...]Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancerView onlineSchließen
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Published in: Nature Genetics