Agatino Battaglia

irccs bambino gesu

H指数:55

被引数:1.7万

个人简介

暂无内容

教育背景

暂无内容

工作经历

暂无内容

荣誉奖项

暂无内容

Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2020-09-0134

OAAI

Breen, Michael S.; Garg, Paras; Tang, Lara; Mendonca, Danielle; Levy, Tess; Barbosa, Mafalda; Arnett, Anne B.; Kurtz-Nelson, Evangeline; Agolini, Emanuele; Battaglia, Agatino; Chiocchetti, Andreas G.; Freitag, Christine M.; Garcia-Alcon, Alicia; Grammatico, Paola; Hertz-Picciotto, Irva; Ludena-Rodriguez, Yunin; Moreno, Carmen; Novelli, Antonio; Parellada, Mara; Pascolini, Giulia; Tassone, Flora; Grice, Dorothy E.; Di Marino, Daniele; Bernier, Raphael A.; Kolevzon, Alexander; Sharp, Andrew J.; Buxbaum, Joseph D.; Siper, Paige M.; De Rubeis, Silvia

An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray

SCIENTIFIC REPORTS

IF3.9

2020-02-2148

OAAI

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2018-08-0134

OAAI

Gregor, Anne; Sadleir, Lynette G.; Asadollahi, Reza; Azzarello-Burri, Silvia; Battaglia, Agatino; Ousager, Lilian Bomme; Boonsawat, Paranchai; Bruel, Ange-Line; Buchert, Rebecca; Calpena, Eduardo; Cogne, Benjamin; Dallapiccola, Bruno; Distelmaier, Felix; Elmslie, Frances; Faivre, Laurence; Haack, Tobias B.; Harrison, Victoria; Henderson, Alex; Hunt, David; Isidor, Bertrand; Joset, Pascal; Kumada, Satoko; Lachmeijer, Augusta M. A.; Lees, Melissa; Lynch, Sally Ann; Martinez, Francisco; Matsumoto, Naomichi; McDougall, Carey; Mefford, Heather C.; Miyake, Noriko; Myers, Candace T.; Moutton, Sebastien; Nesbitt, Addie; Novelli, Antonio; Orellana, Carmen; Rauch, Anita; Rosello, Monica; Saida, Ken; Santani, Avni B.; Sarkar, Ajoy; Scheffer, Ingrid E.; Shinawi, Marwan; Steindl, Katharina; Symonds, Joseph D.; Zackai, Elaine H.; Univ, Washington Ctr Mendelian Genomics D. D. D.; Reis, Andre; Sticht, Heinrich; Zweier, Christiane

Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia

对16,000多名自闭症谱系障碍患者的gis进行的荟萃分析突出了10 q24.32的新位点，并且与精神分裂症有显着重叠

MOLECULAR AUTISM

IF5.5

2017-05-22376

OAAI

Anney, Richard J. L.; Ripke, Stephan; Anttila, Verneri; Grove, Jakob; Holmans, Peter; Huang, Hailiang; Klei, Lambertus; Lee, Phil H.; Medland, Sarah E.; Neale, Benjamin; Robinson, Elise; Weiss, Lauren A.; Zwaigenbaum, Lonnie; Yu, Timothy W.; Wittemeyer, Kerstin; Willsey, A. Jeremy; Wijsman, Ellen M.; Werge, Thomas; Wassink, Thomas H.; Waltes, Regina; Walsh, Christopher A.; Wallace, Simon; Vorstman, Jacob A. S.; Vieland, Veronica J.; Vicente, Astrid M.; vanEngeland, Herman; Tsang, Kathryn; Thompson, Ann P.; Szatmari, Peter; Svantesson, Oscar; Steinberg, Stacy; Stefansson, Kari; Stefansson, Hreinn; State, Matthew W.; Soorya, Latha; Silagadze, Teimuraz; Scherer, Stephen W.; Schellenberg, Gerard D.; Sandin, Sven; Sanders, Stephan J.; Saemundsen, Evald; Rouleau, Guy A.; Roge, Bernadette; Roeder, Kathryn; Roberts, Wendy; Reichert, Jennifer; Reichenberg, Abraham; Rehnstrom, Karola; Regan, Regina; Poustka, Fritz; Poultney, Christopher S.; Piven, Joseph; Pinto, Dalila; Pericak-Vance, Margaret A.; Pejovic-Milovancevic, Milica; Pedersen, Marianne Giortz; Pedersen, Carsten Bocker; Paterson, Andrew D.; Parr, Jeremy R.; Pagnamenta, Alistair T.; Oliveira, Guiomar; Nurnberger, John I.; Nordentoft, Merete; Murtha, Michael T.; Mouga, Susana; Mortensen, Preben Bo; Mors, Ole; Morrow, Eric M.; Moreno-De-Luca, Daniel; Monaco, Anthony P.; Minshew, Nancy; Merikangas, Alison; McMahon, William M.; McGrew, Susan G.; Mattheisen, Manuel; Martsenkovsky, Igor; Martin, Donna M.; Mane, Shrikant M.; Magnusson, Pall; Magalhaes, Tiago; Maestrini, Elena; Lowe, Jennifer K.; Lord, Catherine; Levitt, Pat; LeseMartin, Christa; Ledbetter, David H.; Leboyer, Marion; LeCouteur, Ann S.; Ladd-Acosta, Christine; Kolevzon, Alexander; Klauck, Sabine M.; Jacob, Suma; Iliadou, Bozenna; Hultman, Christina M.; Hougaard, David M.; Hertz-Picciotto, Irva; Hendren, Robert; Hansen, Christine Soholm; Haines, Jonathan L.; Guter, Stephen J.; Grice, Dorothy E.; Green, Jonathan M.; Green, Andrew; Goldberg, Arthur P.; Gillberg, Christopher; Gilbert, John; Gallagher, Louise; Freitag, Christine M.; Fombonne, Eric; Folstein, Susan E.; Fernandez, Bridget; Fallin, M. Daniele; Ercan-Sencicek, A. Gulhan; Ennis, Sean; Duque, Frederico; Duketis, Eftichia; Delorme, Richard; DeRubeis, Silvia; DeJonge, Maretha V.; Dawson, Geraldine; Cuccaro, Michael L.; Correia, Catarina T.; Conroy, Judith; Conceicao, Ines C.; Chiocchetti, Andreas G.; Celestino-Soper, Patrcia B. S.; Casey, Jillian; Cantor, Rita M.; Cafe, Catia; Bybjerg-Grauholm, Jonas; Brennan, Sean; Bourgeron, Thomas; Bolton, Patrick F.; Boelte, Sven; Bolshakova, Nadia; Betancur, Catalina; Bernier, Raphael; Beaudet, Arthur L.; Battaglia, Agatino; Bal, Vanessa H.; Baird, Gillian; Bailey, Anthony J.; Baekvad-Hansen, Marie; Bader, Joel S.; Bacchelli, Elena; Anagnostou, Evdokia; Amaral, David; Almeida, Joana; Borglum, Anders D.; Buxbaum, Joseph D.; Chakravarti, Aravinda; Cook, Edwin H.; Coon, Hilary; Geschwind, Daniel H.; Gill, Michael; Hakonarson, Hakon; Hallmayer, Joachim; Palotie, Aarno; Santangelo, Susan; Sutcliffe, James S.; Arking, Dan E.; Devlin, Bernie; Daly, Mark J.

Lack of replication of previous autism spectrum disorder GWAS hits in European populations

AUTISM RESEARCH

IF5.6

2016-07-1536

PREAI

Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome

JOURNAL OF MEDICAL GENETICS

IF3.7

2016-01-0843

OAAI

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome

JOURNAL OF MEDICAL GENETICS

IF3.7

2015-11-0571

OAAI

Common and rare variants of microRNA genes in autism spectrum disorders

WORLD JOURNAL OF BIOLOGICAL PSYCHIATRY

IF3.8

2015-04-2329

OAAI

Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2015-03-1832

OAAI

Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients (vol 6, pg 795, 2014)

EMBO MOLECULAR MEDICINE

IF8.3

2014-12-031

OAAI

Mutations in CKAP2L, the Human Homo log of the Mouse Radmis Gene, Cause Filippi Syndrome

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2014-11-0142

OAAI

Hussain, Muhammad Sajid; Battaglia, Agatino; Szczepanski, Sandra; Kaygusuz, Emrah; Toliat, Mohammad Reza; Sakakibara, Shin-ichi; Altmueller, Janine; Thiele, Holger; Nuernberg, Gudrun; Moosa, Shahida; Yigit, Goekhan; Beleggia, Filippo; Tinschert, Sigrid; Clayton-Smith, Jill; Vasudevan, Pradeep; Urquhart, Jill E.; Donnai, Dian; Fryer, Alan; Percin, Ferda; Brancati, Francesco; Dobbie, Angus; Smigiel, Robert; Gillessen-Kaesbach, Gabriele; Wollnik, Bernd; Noegel, Angelika Anna; Newman, William G.; Nuernberg, Peter

Five children with deletions of 1p34.3 encompassing AGO1 and AGO3

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2014-10-0124

OAAI

A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder

JOURNAL OF NEURODEVELOPMENTAL DISORDERS

IF4

2014-07-1039

OAAI

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

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2014-05-01785

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.

Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients

EMBO MOLECULAR MEDICINE

IF8.3

2014-04-1442

OAAI

Individual common variants exert weak effects on the risk for autism spectrum disorderspi

HUMAN MOLECULAR GENETICS

IF3.2

2012-07-26321

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

B-Raf, C-Kit and MGMT Molecular Evaluation on 316 Consecutive Patients (pts) Affected by Metastatic Melanoma (MM) and Receiving Different Treatment Combinations - Do Mutations Influence Outcome?

EUROPEAN JOURNAL OF CANCER

IF7.1

2012-07-011

PREAI

Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

PLOS GENETICS

IF3.7

2012-02-09371

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

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

一种新的纯合单倍型共享方法来识别自闭症谱系障碍中的候选基因

HUMAN GENETICS

IF3.6

2011-10-14160

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

Clinical utility gene card for: Wolf-Hirschhorn (4p-) syndrome

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2010-12-0812

OAAI

Agatino Battaglia

个人简介

教育背景

工作经历

荣誉奖项

研究方向