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Elena Maestrini
department of pharmacy and biotechnology
48H指数
94论文数
1.9W被引数
收录论文 39
发表时间
- 发表时间
- IF
- 被引数
Investigating the role of rare missense variants in RAB11B in autism spectrum disorder探究RAB11B罕见错义变异在自闭症谱系障碍中的作用
2026-09-08
0
OAAI
Marta Viggiano; Laura Sandoni; Fabiola Ceroni; Paola Visconti; Annio Posar; Maria Cristina Scaduto; Joana Rosmaninho Salgado; Alessandro Vaisfeld; Elena Maestrini; Elena Bacchelli
Further characterization of the BRSK2-associated neurodevelopmental disorderBRSK2相关的神经发育障碍的进一步表征
2026-07-27
0
OAAI
Palak Singhal; Tzung-Chien Hsieh; Nadja Ehmke; Elena Bacchelli; Marta Viggiano; Elena Maestrini; Paola Visconti; Annio Posar; Maria Cristina Scaduto; Alessandro Vaisfeld; Carey Ronspies; Sarah Burke; Joana Rosmaninho Salgado; Joaquim Sá; Sara Ribeiro; Amelle Shillington; Anjali Aggarwal; Christina Dailey; Carol Saunders; Florencia Del Viso; Chaya N. Murali; Melissa MacPherson; Oana Caluseriu; Alain Verloes; Jonathan Levy; Yline Capri; Hannah S. Kemmer; Manuel Holtgrewe; Philip M. Boone; Lance Rodan; Georgia Vasileiou; Melissa Pauly; André Reis; Isabella Herman; Ivy Johnson; Himanshu Goel; Ana Maria Rodriguez Barreto; Flavio Faletra; Catia Mio; Mona L. Essawi; Heba A. Hassan; Wessam E. Sharaf-Eldin; Nirmeen Kishk; Giuseppe Donato Mangano; Renata Mangano; Andrea K. Shields; Judith D. Ranells; Trine Bjørg Hammer; Clara Velmans; Christian Netzer; Nora Winnerling; Konstantinos Kolokotronis; Benjamin Seidl; Anita Rauch; Alberto Fernandez-Jaen; Aboulfazl Rad; Gabriela Oprea; Paskal Cullufi; Sonila Tomori; Claire Beneteau; Marine Legendre; Caroline Rooryck; Hannah Klinkhammer; Tobias B. Haack; Amjad Khan; Johanna Kick; Deborah Bartholdi; Dominique Braun; Erin E. Baldwin; David H. Viskochil; Lorenzo D. Botto; Anna LaGroon; Emily Black; Kameryn M. Butler; Emmanuelle Ranza; Manon Macherel; Vincent Desportes; Mathilde Pujalte; Louis Januel; Boris Keren; Cyril Mignot; Madeleine Harion; Maartje L. E. Voors; Charlotte W. Ockeloen; Javier Porta-Pelayo; Bernt Popp; Peter Krawitz; Heinrich Sticht; Anne Gregor; Christiane Zweier
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromesKMT2C的致病变异导致与Kleefstra和Kabuki综合征不同的神经发育障碍
2024-08-01
4
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
PREAI
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
ANNALS OF NEUROLOGY
2023-08-07
21
OAAI
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
IF7.7
Contribution of CACNA1H Variants in Autism Spectrum Disorder SusceptibilityCACNA1H变异体在孤独症谱系障碍易感性中的作用
2022-03-08
5
OAAI
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
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
2020-06-22
0
OAAI
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
An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray
SCIENTIFIC REPORTS
2020-02-21
48
OAAI
Bacchelli, Elena; Cameli, Cinzia; Viggiano, Marta; Igliozzi, Roberta; Mancini, Alice; Tancredi, Raffaella; Battaglia, Agatino; Maestrini, Elena
IF3.9
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
2019-02-07
17
OAAI
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
Genetic variation in CHRNA7 and CHRFAM7A is associated with nicotine dependence and response to varenicline treatment
2018-08-08
14
OAAI
Cameli, Cinzia; Bacchelli, Elena; De Paola, Maria; Giucastro, Giuliano; Cifiello, Stefano; Collo, Ginetta; Cainazzo, Maria Michela; Pini, Luigi Alberto; Maestrini, Elena; Zoli, Michele
A genome-wide analysis in cluster headache points to neprilysin and PACAP receptor gene variants
2016-12-13
40
OAAI
Bacchelli, Elena; Cainazzo, Maria Michela; Cameli, Cinzia; Guerzoni, Simona; Martinelli, Angela; Zoli, Michele; Maestrini, Elena; Pini, Luigi Alberto
Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability
2015-03-18
32
OAAI
Torrico, Barbara; Fernandez-Castillo, Noelia; Hervas, Amaia; Mila, Montserrat; Salgado, Marta; Rueda, Isabel; Buitelaar, Jan K.; Rommelse, Nanda; Oerlemans, Anoek M.; Bralten, Janita; Freitag, Christine M.; Reif, Andreas; Battaglia, Agatino; Mazzone, Luigi; Maestrini, Elena; Cormand, Bru; Toma, Claudio
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments自闭症谱系障碍中小腿突变的荟萃分析: 认知障碍严重程度的梯度
PLOS GENETICS
2014-09-04
497
OAAI
Leblond, Claire S.; Nava, Caroline; Polge, Anne; Gauthier, Julie; Huguet, Guillaume; Lumbroso, Serge; Giuliano, Fabienne; Stordeur, Coline; Depienne, Christel; Mouzaf, Kevin; Pinto, Dalila; Howe, Jennifer; Lemiere, Nathalie; Durand, Christelle M.; Guibert, Jessica; Ey, Elodie; Toro, Roberto; Peyre, Hugo; Mathieu, Alexandre; Amsellem, Frederique; Rastam, Maria; Gillberg, I. Carina; Rappold, Gudrun A.; Holt, Richard; Monaco, Anthony P.; Maestrini, Elena; Galan, Pilar; Heron, Delphine; Jacquette, Aurelia; Afenjar, Alexandra; Rastetter, Agnes; Brice, Alexis; Devillard, Francoise; Assouline, Brigitte; Laffargue, Fanny; Lespinasse, James; Chiesa, Jean; Rivier, Francois; Bonneau, Dominique; Regnault, Beatrice; Zelenika, Diana; Delepine, Marc; Lathrop, Mark; Sanlaville, Damien; Schluth-Bolard, Caroline; Edery, Patrick; Perrin, Laurence; Tabet, Anne Claude; Schmeisser, Michael J.; Boeckers, Tobias M.; Coleman, Mary; Sato, Daisuke; Szatmari, Peter; Scherer, Stephen W.; Rouleau, Guy A.; Betancur, Catalina; Leboyer, Marion; Gillberg, Christopher; Delorme, Richard; Bourgeron, Thomas
IF3.7
A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder
2014-07-10
39
OAAI
Bacchelli, Elena; Ceroni, Fabiola; Pinto, Dalila; Lomartire, Silvia; Giannandrea, Maila; D'Adamo, Patrizia; Bonora, Elena; Parchi, Piero; Tancredi, Raffaella; Battaglia, Agatino; Maestrini, Elena
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
2014-05-01
785
OAAI
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.
A Deletion Involving CD38 and BST1 Results in a Fusion Transcript in a Patient With Autism and Asthma
AUTISM RESEARCH
2014-03-13
35
OAAI
Ceroni, Fabiola; Sagar, Angela; Simpson, Nuala H.; Gawthrope, Alex J. T.; Newbury, Dianne F.; Pinto, Dalila; Francis, Sunday M.; Tessman, Dorothy C.; Cook, Edwin H.; Monaco, Anthony P.; Maestrini, Elena; Pagnamenta, Alistair T.; Jacob, Suma
IF5.6
Individual common variants exert weak effects on the risk for autism spectrum disorderspi
2012-07-26
321
OAAI
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
Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders
PLOS GENETICS
2012-02-09
371
OAAI
Leblond, Claire S.; Heinrich, Jutta; Delorme, Richard; Proepper, Christian; Betancur, Catalina; Huguet, Guillaume; Konyukh, Marina; Chaste, Pauline; Ey, Elodie; Rastam, Maria; Anckarsater, Henrik; Nygren, Gudrun; Gillberg, I. Carina; Melke, Jonas; Toro, Roberto; Regnault, Beatrice; Fauchereau, Fabien; Mercati, Oriane; Lemiere, Nathalie; Skuse, David; Poot, Martin; Holt, Richard; Monaco, Anthony P.; Jarvela, Irma; Kantojarvi, Katri; Vanhala, Raija; Curran, Sarah; Collier, David A.; Bolton, Patrick; Chiocchetti, Andreas; Klauck, Sabine M.; Poustka, Fritz; Freitag, Christine M.; Waltes, Regina; Kopp, Marnie; Duketis, Eftichia; Bacchelli, Elena; Minopoli, Fiorella; Ruta, Liliana; Battaglia, Agatino; Mazzone, Luigi; Maestrini, Elena; Sequeira, Ana F.; Oliveira, Barbara; Vicente, Astrid; Oliveira, Guiomar; Pinto, Dalila; Scherer, Stephen W.; Zelenika, Diana; Delepine, Marc; Lathrop, Mark; Bonneau, Dominique; Guinchat, Vincent; Devillard, Francoise; Assouline, Brigitte; Mouren, Marie-Christine; Leboyer, Marion; Gillberg, Christopher; Boeckers, Tobias M.; Bourgeron, Thomas
IF3.7
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder
HUMAN GENETICS
2011-10-14
160
OAAI
Casey, Jillian P.; Magalhaes, Tiago; Conroy, Judith M.; Regan, Regina; Shah, Naisha; Anney, Richard; Shields, Denis C.; Abrahams, Brett S.; Almeida, Joana; Bacchelli, Elena; Bailey, Anthony J.; Baird, Gillian; Battaglia, Agatino; Berney, Tom; Bolshakova, Nadia; Bolton, Patrick F.; Bourgeron, Thomas; Brennan, Sean; Cali, Phil; Correia, Catarina; Corsello, Christina; Coutanche, Marc; Dawson, Geraldine; de Jonge, Maretha; Delorme, Richard; Duketis, Eftichia; Duque, Frederico; Estes, Annette; Farrar, Penny; Fernandez, Bridget A.; Folstein, Susan E.; Foley, Suzanne; Fombonne, Eric; Freitag, Christine M.; Gilbert, John; Gillberg, Christopher; Glessner, Joseph T.; Green, Jonathan; Guter, Stephen J.; Hakonarson, Hakon; Holt, Richard; Hughes, Gillian; Hus, Vanessa; Igliozzi, Roberta; Kim, Cecilia; Klauck, Sabine M.; Kolevzon, Alexander; Lamb, Janine A.; Leboyer, Marion; Le Couteur, Ann; Leventhal, Bennett L.; Lord, Catherine; Lund, Sabata C.; Maestrini, Elena; Mantoulan, Carine; Marshall, Christian R.; McConachie, Helen; McDougle, Christopher J.; McGrath, Jane; McMahon, William M.; Merikangas, Alison; Miller, Judith; Minopoli, Fiorella; Mirza, Ghazala K.; Munson, Jeff; Nelson, Stanley F.; Nygren, Gudrun; Oliveira, Guiomar; Pagnamenta, Alistair T.; Papanikolaou, Katerina; Parr, Jeremy R.; Parrini, Barbara; Pickles, Andrew; Pinto, Dalila; Piven, Joseph; Posey, David J.; Poustka, Annemarie; Poustka, Fritz; Ragoussis, Jiannis; Roge, Bernadette; Rutter, Michael L.; Sequeira, Ana F.; Soorya, Latha; Sousa, Ines; Sykes, Nuala; Stoppioni, Vera; Tancredi, Raffaella; Tauber, Maite; Thompson, Ann P.; Thomson, Susanne; Tsiantis, John; Van Engeland, Herman; Vincent, John B.; Volkmar, Fred; Vorstman, Jacob A. S.; Wallace, Simon; Wang, Kai; Wassink, Thomas H.; White, Kathy; Wing, Kirsty; Wittemeyer, Kerstin; Yaspan, Brian L.; Zwaigenbaum, Lonnie; Betancur, Catalina; Buxbaum, Joseph D.; Cantor, Rita M.; Cook, Edwin H.; Coon, Hilary; Cuccaro, Michael L.; Geschwind, Daniel H.; Haines, Jonathan L.; Hallmayer, Joachim; Monaco, Anthony P.; Nurnberger, John I., Jr.; Pericak-Vance, Margaret A.; Schellenberg, Gerard D.; Scherer, Stephen W.; Sutcliffe, James S.; Szatmari, Peter; Vieland, Veronica J.; Wijsman, Ellen M.; Green, Andrew; Gill, Michael; Gallagher, Louise; Vicente, Astrid; Ennis, Sean
IF3.6
Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability
2010-09-15
188
OAAI
Noor, Abdul; Whibley, Annabel; Marshall, Christian R.; Gianakopoulos, Peter J.; Piton, Amelie; Carson, Andrew R.; Orlic-Milacic, Marija; Lionel, Anath C.; Sato, Daisuke; Pinto, Dalila; Drmic, Irene; Noakes, Carolyn; Senman, Lili; Zhang, Xiaoyun; Mo, Rong; Gauthier, Julie; Crosbie, Jennifer; Pagnamenta, Alistair T.; Munson, Jeffrey; Estes, Annette M.; Fiebig, Andreas; Franke, Andre; Schreiber, Stefan; Stewart, Alexandre F. R.; Roberts, Robert; McPherson, Ruth; Guter, Stephen J.; Cook, Edwin H., Jr.; Dawson, Geraldine; Schellenberg, Gerard D.; Battaglia, Agatino; Maestrini, Elena; Jeng, Linda; Hutchison, Terry; Rajcan-Separovic, Evica; Chudley, Albert E.; Lewis, Suzanne M. E.; Liu, Xudong; Holden, Jeanette J.; Fernandez, Bridget; Zwaigenbaum, Lonnie; Bryson, Susan E.; Roberts, Wendy; Szatmari, Peter; Gallagher, Louise; Stratton, Michael R.; Gecz, Jozef; Brady, Angela F.; Schwartz, Charles E.; Schachar, Russell J.; Monaco, Anthony P.; Rouleau, Guy A.; Hui, Chi-chung; Raymond, F. Lucy; Scherer, Stephen W.; Vincent, John B.
Characterization of a Family with Rare Deletions in CNTNAP5 and DOCK4 Suggests Novel Risk Loci for Autism and Dyslexia
2010-08-01
125
OAAI
Pagnamenta, Alistair T.; Bacchelli, Elena; de Jonge, Maretha V.; Mirza, Ghazala; Scerri, Thomas S.; Minopoli, Fiorella; Chiocchetti, Andreas; Ludwig, Kerstin U.; Hoffmann, Per; Paracchini, Silvia; Lowy, Ernesto; Harold, Denise H.; Chapman, Jade A.; Klauck, Sabine M.; Poustka, Fritz; Houben, Renske H.; Staal, Wouter G.; Ophoff, Roel A.; O'Donovan, Michael C.; Williams, Julie; Noethen, Markus M.; Schulte-Koerne, Gerd; Deloukas, Panos; Ragoussis, Jiannis; Bailey, Anthony J.; Maestrini, Elena; Monaco, Anthony P.

