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Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes KMT2C的致病变异导致与Kleefstra和Kabuki综合征不同的神经发育障碍 Rots, Dmitrijs; Choufani, Sanaa; Faundes, Victor; Dingemans, Alexander J. M.; Joss, Shelagh; Foulds, Nicola; Jones, Elizabeth A.; Stewart, Sarah; Vasudevan, Pradeep; Dabir, Tabib; Park, Soo-Mi; Jewell, Rosalyn; Brown, Natasha; Pais, Lynn; Jacquemont, Sebastien; Jizi, Khadije; van Ravenswaaij-Arts, Conny M. A.; Kroes, Hester Y.; Stumpel, Constance T. R. M.; Ockeloen, Charlotte W.; Diets, Illja J.; Nizon, Mathilde; Vincent, Marie; Cogne, Benjamin; Besnard, Thomas; Kambouris, Marios; Anderson, Emily; Zackai, Elaine H.; McDougall, Carey; Donoghue, Sarah; O'Donnell-Luria, Anne; Valivullah, Zaheer; O'Leary, Melanie; Srivastava, Siddharth; Byers, Heather; Leslie, Nancy; Mazzola, Sarah; Tiller, George E.; Vera, Moin; Shen, Joseph J.; Boles, Richard; Jain, Vani; Brischoux-Boucher, Elise; Kinning, Esther; Simpson, Brittany N.; Giltay, Jacques C.; Harris, Jacqueline; Keren, Boris; Guimier, Anne; Marijon, Pierre; de Vries, Bert B. A.; Motter, Constance S.; Mendelsohn, Bryce A.; Coffino, Samantha; Gerkes, Erica H.; Afenjar, Alexandra; Visconti, Paola; Bacchelli, Elena; Maestrini, Elena; Delahaye-Duriez, Andree; Gooch, Catherine; Hendriks, Yvonne; Adams, Hieab; Thauvin-Robinet, Christel; Josephi-Taylor, Sarah; Bertoli, Marta; Parker, Michael J.; Rutten, Julie W.; Caluseriu, Oana; Vernon, Hilary J.; Kaziyev, Jonah; Zhu, Jia; Kremen, Jessica; Frazier, Zoe; Osika, Hailey; Breault, David; Nair, Sreelata; Lewis, Suzanne M. E.; Ceroni, Fabiola; Viggiano, Marta; Posar, Annio; Brittain, Helen; Giovanna, Traficante; Giulia, Gori; Quteineh, Lina; Leuchter, Russia Ha-Vinh; Zonneveld-Huijssoon, Evelien; Mellado, Cecilia; Marey, Isabelle; Coudert, Alicia; Alvarez, Mariana Ines Aracena; Kennis, Milou G. P.; Bouman, Arianne; Roifman, Maian; Rodriguez, Maria Inmaculada Amoros; Ortigoza-Escobar, Juan Dario; Vernimmen, Vivian; Sinnema, Margje; Pfundt, Rolph; Brunner, Han G.; Vissers, Lisenka E. L. M.; Kleefstra, Tjitske; Weksberg, Rosanna; Banka, Siddharth 分享 收藏
Cluster Headache Genomewide Association Study and Meta-Analysis Identifies Eight Loci and Implicates Smoking as Causal Risk Factor 丛集性头痛全基因组关联研究和荟萃分析确定了八个基因座，并暗示吸烟是因果危险因素 Winsvold, Bendik; Harder, Aster V. E. A.; Ran, Caroline; Chalmer, Mona; Dalmasso, Maria Carolina; Ferkingstad, Egil; Tripathi, Kumar Parijat; Bacchelli, Elena; Borte, Sigrid; Fourier, Carmen S.; Petersen, Anja H.; Vijfhuizen, Lisanne; Magnusson, Sigurdur; O'Connor, Emer; Bjornsdottir, Gyda; Happola, Paavo; Wang, Yen-Feng; Callesen, Ida; Kelderman, Tim; Gallardo, Victor J.; de Boer, Irene; Olofsgard, Felicia Jennysdotter; Heinze, Katja; Lund, Nunu; Thomas, Laurent F.; Hsu, Chia-Lin; Pirinen, Matti; Hautakangas, Heidi; Ribases, Marta; Guerzoni, Simona; Sivakumar, Prasanth; Yip, Janice; Heinze, Axel; Kucukali, Fahri B.; Ostrowski, Sisse S.; Pedersen, Ole E.; Kristoffersen, Espen S.; Martinsen, Amy E.; Artigas, Maria S.; Lagrata, Susie; Cainazzo, Maria Michela; Adebimpe, Joycee; Quinn, Olivia; Goebel, Carl E.; Cirkel, Anna; Volk, Alexander; Heilmann-Heimbach, Stefanie E.; Skogholt, Anne Heidi; Gabrielsen, Maiken E.; Wilbrink, Leopoldine A.; Danno, Daisuke; Mehta, Dwij R.; Guobjartsson, Daniel F.; Rosendaal, Frits R.; van Dijk, Ko Willems; Fronczek, Rolf A.; Wagner, Michael; Scherer, Martin; Goebel, Hartmut A.; Sleegers, Kristel; Sveinsson, Olafur; Pani, Luca; Zoli, Michele; Ramos-Quiroga, Josep A.; Dardiotis, Efthimios; Steinberg, Anna; Riedel-Heller, Steffi; Sjostrand, Christina; Thorgeirsson, Thorgeir E.; Stefansson, Hreinn; Southgate, Laura; Trembath, Richard C.; Vandrovcova, Jana; Noordam, Raymond; Paemeleire, Koen H.; Stefansson, Kari; Fann, Cathy Shen-Jang; Waldenlind, Elisabet; Tronvik, Erling; Jensen, Rigmor H.; Chen, Shih-Pin; Houlden, Henry; Terwindt, Gisela C.; Kubisch, Christian; Maestrini, Elena; Vikelis, Michail; Pozo-Rosich, Patricia; Belin, Andrea C.; Matharu, Manjit; van den Maagdenberg, Arn M. J. M.; Hansen, Thomas F.; Ramirez, Alfredo; Zwart, John-Anker 分享 收藏
Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility CACNA1H变异体在孤独症谱系障碍易感性中的作用 Viggiano, Marta; D'Andrea, Tiziano; Cameli, Cinzia; Posar, Annio; Visconti, Paola; Scaduto, Maria Cristina; Colucci, Roberta; Rochat, Magali J.; Ceroni, Fabiola; Milazzo, Giorgio; Fucile, Sergio; Maestrini, Elena; Bacchelli, Elena 分享 收藏
The role of rare compound heterozygous events in autism spectrum disorder 罕见复合杂合事件在孤独症谱系障碍中的作用 Lin, Bochao Danae; Colas, Fabrice; Nijman, Isaac J.; Medic, Jelena; Brands, William; Parr, Jeremy R.; van Eijk, Kristel R.; Klauck, Sabine M.; Chiocchetti, Andreas G.; Freitag, Christine M.; Maestrini, Elena; Bacchelli, Elena; Coon, Hilary; Vicente, Astrid; Oliveira, Guiomar; Pagnamenta, Alistair T.; Gallagher, Louise; Ennis, Sean; Anney, Richard; Bourgeron, Thomas; Luykx, Jurjen J.; Vorstman, Jacob 分享 收藏
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Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies Pippucci, Tommaso; Licchetta, Laura; Baldassari, Sara; Marconi, Caterina; De Luise, Monica; Myers, Candace; Nardi, Elena; Provini, Federica; Cameli, Cinzia; Minardi, Raffaella; Bacchelli, Elena; Giordano, Lucio; Crichiutti, Giovanni; d'Orsi, Giuseppe; Seri, Marco; Gasparre, Giuseppe; Mefford, Heather C.; Tinuper, Paolo; Bisulli, Francesca; Bianchi, Amedeo; Striano, Pasquale; Gaslini, G.; Gambardella, Antonio; Meletti, Stefano; Dilena, Roberto; Santucci, Margherita; Marini, Carla; Vignoli, Aglaia; Gobbi, Giuseppe; Briatore, Eleonora; Mastrangelo, Massimo 分享 收藏
Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene Bacchelli, Elena; Loi, Eleonora; Cameli, Cinzia; Moi, Loredana; Vega Benedetti, Ana Florencia; Blois, Sylvain; Fadda, Antonio; Bonora, Elena; Mattu, Sandra; Fadda, Roberta; Chessa, Rita; Maestrini, Elena; Doneddu, Giuseppe; Zavattari, Patrizia 分享 收藏
Genetic variation in CHRNA7 and CHRFAM7A is associated with nicotine dependence and response to varenicline treatment Cameli, Cinzia; Bacchelli, Elena; De Paola, Maria; Giucastro, Giuliano; Cifiello, Stefano; Collo, Ginetta; Cainazzo, Maria Michela; Pini, Luigi Alberto; Maestrini, Elena; Zoli, Michele 分享 收藏
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Lack of replication of previous autism spectrum disorder GWAS hits in European populations Torrico, Barbara; Chiocchetti, Andreas G.; Bacchelli, Elena; Trabetti, Elisabetta; Hervas, Amaia; Franke, Barbara; Buitelaar, Jan K.; Rommelse, Nanda; Yousaf, Afsheen; Duketis, Eftichia; Freitag, Christine M.; Caballero-Andaluz, Rafaela; Martinez-Mir, Amalia; Scholl, Francisco G.; Ribases, Marta; Battaglia, Agatino; Malerba, Giovanni; Delorme, Richard; Benabou, Marion; Maestrini, Elena; Bourgeron, Thomas; Cormand, Bru; Toma, Claudio 分享 收藏
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Common and rare variants of microRNA genes in autism spectrum disorders Toma, Claudio; Torrico, Barbara; Hervas, Amaia; Salgado, Marta; Rueda, Isabel; Valdes-Mas, Rafael; Buitelaar, Jan K.; Rommelse, Nanda; Franke, Barbara; Freitag, Christine; Reif, Andreas; Alberto Perez-Jurado, Luis; Battaglia, Agatino; Mazzone, Luigi; Bacchelli, Elena; Puente, Xose S.; Cormand, Bru 分享 收藏
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients (vol 6, pg 795, 2014) Bonora, Elena; Graziano, Claudio; Minopoli, Fiorella; Bacchelli, Elena; Magini, Pamela; Diquigiovanni, Chiara; Lomartire, Silvia; Bianco, Francesca; Vargiolu, Manuela; Parchi, Piero; Marasco, Elena; Mantovani, Vilma; Rampoldi, Luca; Trudu, Matteo; Parmeggiani, Antonia; Battaglia, Agatino; Mazzone, Luigi; Tortora, Giada; Maestrini, Elena; Seri, Marco; Romeo, Giovanni 分享 收藏
A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder Bacchelli, Elena; Ceroni, Fabiola; Pinto, Dalila; Lomartire, Silvia; Giannandrea, Maila; D'Adamo, Patrizia; Bonora, Elena; Parchi, Piero; Tancredi, Raffaella; Battaglia, Agatino; Maestrini, Elena 分享 收藏
Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders 自闭症谱系障碍中基因的收敛和细胞通路失调 Pinto, Dalila; Delaby, Elsa; Merico, Daniele; Barbosa, Mafalda; Merikangas, Alison; Klei, Lambertus; Thiruvahindrapuram, Bhooma; Xu, Xiao; Ziman, Robert; Wang, Zhuozhi; Vorstman, Jacob A. S.; Thompson, Ann; Regan, Regina; Pilorge, Marion; Pellecchia, Giovanna; Pagnamenta, Alistair T.; Oliveira, Barbara; Marshall, Christian R.; Magalhaes, Tiago R.; Lowe, Jennifer K.; Howe, Jennifer L.; Griswold, Anthony J.; Gilbert, John; Duketis, Eftichia; Dombroski, Beth A.; De Jonge, Maretha V.; Cuccaro, Michael; Crawford, Emily L.; Correia, Catarina T.; Conroy, Judith; Conceicao, Ines C.; Chiocchetti, Andreas G.; Casey, Jillian P.; Cai, Guiqing; Cabrol, Christelle; Bolshakova, Nadia; Bacchelli, Elena; Anney, Richard; Gallinger, Steven; Cotterchio, Michelle; Casey, Graham; Zwaigenbaum, Lonnie; Wittemeyer, Kerstin; Wing, Kirsty; Wallace, Simon; van Engeland, Herman; Tryfon, Ana; Thomson, Susanne; Soorya, Latha; Roge, Bernadette; Roberts, Wendy; Poustka, Fritz; Mouga, Susana; Minshew, Nancy; McInnes, L. Alison; McGrew, Susan G.; Lord, Catherine; Leboyer, Marion; Le Couteur, Ann S.; Kolevzon, Alexander; Gonzalez, Patricia Jimenez; Jacob, Suma; Holt, Richard; Guter, Stephen; Green, Jonathan; Green, Andrew; Gillberg, Christopher; Fernandez, Bridget A.; Duque, Frederico; Delorme, Richard; Dawson, Geraldine; Chaste, Pauline; Cafe, Catia; Brennan, Sean; Bourgeron, Thomas; Bolton, Patrick F.; Boelte, Sven; Bernier, Raphael; Baird, Gillian; Bailey, Anthony J.; Anagnostou, Evdokia; Almeida, Joana; Wijsman, Ellen M.; Vieland, Veronica J.; Vicente, Astrid M.; Schellenberg, Gerard D.; Pericak-Vance, Margaret; Paterson, Andrew D.; Parr, Jeremy R.; Oliveira, Guiomar; Nurnberger, John I.; Monaco, Anthony P.; Maestrini, Elena; Klauck, Sabine M.; Hakonarson, Hakon; Haines, Jonathan L.; Geschwind, Daniel H.; Freitag, Christine M.; Folstein, Susan E.; Ennis, Sean; Coon, Hilary; Battaglia, Agatino; Szatmari, Peter; Sutcliffe, James S.; Hallmayer, Joachim; Gill, Michael; Cook, Edwin H.; Buxbaum, Joseph D.; Devlin, Bernie; Gallagher, Louise; Betancur, Catalina; Scherer, Stephen W. 分享 收藏
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients Bonora, Elena; Graziano, Claudio; Minopoli, Fiorella; Bacchelli, Elena; Magini, Pamela; Diquigiovanni, Chiara; Lomartire, Silvia; Bianco, Francesca; Vargiolu, Manuela; Parchi, Piero; Marasco, Elena; Mantovani, Vilma; Rampoldi, Luca; Trudu, Matteo; Parmeggiani, Antonia; Battaglia, Agatino; Mazzone, Luigi; Tortora, Giada; Maestrini, Elena; Seri, Marco; Romeo, Giovanni 分享 收藏
Individual common variants exert weak effects on the risk for autism spectrum disorderspi Anney, Richard; Klei, Lambertus; Pinto, Dalila; Almeida, Joana; Bacchelli, Elena; Baird, Gillian; Bolshakova, Nadia; Boelte, Sven; Bolton, Patrick F.; Bourgeron, Thomas; Brennan, Sean; Brian, Jessica; Casey, Jillian; Conroy, Judith; Correia, Catarina; Corsello, Christina; Crawford, Emily L.; de Jonge, Maretha; Delorme, Richard; Duketis, Eftichia; Duque, Frederico; Estes, Annette; Farrar, Penny; Fernandez, Bridget A.; Folstein, Susan E.; Fombonne, Eric; Gilbert, John; Gillberg, Christopher; Glessner, Joseph T.; Green, Andrew; Green, Jonathan; Guter, Stephen J.; Heron, Elizabeth A.; Holt, Richard; Howe, Jennifer L.; Hughes, Gillian; Hus, Vanessa; Igliozzi, Roberta; Jacob, Suma; Kenny, Graham P.; Kim, Cecilia; Kolevzon, Alexander; Kustanovich, Vlad; Lajonchere, Clara M.; Lamb, Janine A.; Law-Smith, Miriam; Leboyer, Marion; Le Couteur, Ann; Leventhal, Bennett L.; Liu, Xiao-Qing; Lombard, Frances; Lord, Catherine; Lotspeich, Linda; Lund, Sabata C.; Magalhaes, Tiago R.; Mantoulan, Carine; McDougle, Christopher J.; Melhem, Nadine M.; Merikangas, Alison; Minshew, Nancy J.; Mirza, Ghazala K.; Munson, Jeff; Noakes, Carolyn; Nygren, Gudrun; Papanikolaou, Katerina; Pagnamenta, Alistair T.; Parrini, Barbara; Paton, Tara; Pickles, Andrew; Posey, David J.; Poustka, Fritz; Ragoussis, Jiannis; Regan, Regina; Roberts, Wendy; Roeder, Kathryn; Roge, Bernadette; Rutter, Michael L.; Schlitt, Sabine; Shah, Naisha; Sheffield, Val C.; Soorya, Latha; Sousa, Ines; Stoppioni, Vera; Sykes, Nuala; Tancredi, Raffaella; Thompson, Ann P.; Thomson, Susanne; Tryfon, Ana; Tsiantis, John; Van Engeland, Herman; Vincent, John B.; Volkmar, Fred; Vorstman, J. A. S.; Wallace, Simon; Wing, Kirsty; Wittemeyer, Kerstin; Wood, Shawn; Zurawiecki, Danielle; Zwaigenbaum, Lonnie; Bailey, Anthony J.; Battaglia, Agatino; Cantor, Rita M.; Coon, Hilary; Cuccaro, Michael L.; Dawson, Geraldine; Ennis, Sean; Freitag, Christine M.; Geschwind, Daniel H.; Haines, Jonathan L.; Klauck, Sabine M.; McMahon, William M.; Maestrini, Elena; Miller, Judith; Monaco, Anthony P.; Nelson, Stanley F.; Nurnberger, John I., Jr.; Oliveira, Guiomar; Parr, Jeremy R.; Pericak-Vance, Margaret A.; Piven, Joseph; Schellenberg, Gerard D.; Scherer, StephenW.; Vicente, Astrid M.; Wassink, Thomas H.; Wijsman, Ellen M.; Betancur, Catalina; Buxbaum, Joseph D.; Cook, Edwin H.; Gallagher, Louise; Gill, Michael; Hallmayer, Joachim; Paterson, Andrew D.; Sutcliffe, James S.; Szatmari, Peter; Vieland, Veronica J.; Hakonarson, Hakon; Devlin, Bernie 分享 收藏
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