Elena Bacchelli

Affiliations

Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy. elena.bacchelli@unibo.it.

ORCID: http://orcid.org/0000-0001-8800-9568

Publications (13)

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

Scientific reports

Avec: Elena Bacchelli , Cinzia Cameli , Marta Viggiano , Roberta Igliozzi , Alice Mancini , Raffaella Tancredi , Agatino Battaglia , Elena Maestrini

Whole genome analysis of rare deleterious variants adds further evidence to BRSK2 and other risk genes in Autism Spectrum Disorder.

Research square

Avec: Elena Bacchelli , Marta Viggiano , Fabiola Ceroni , Paola Visconti , Annio Posar , Maria Scaduto , Laura Sandoni , Irene Baravelli , Cinzia Cameli , Magali Rochat , Alessandra Maresca , Alessandro Vaisfeld , Davide Gentilini , Luciano Calzari , Valerio Carelli , Michael Zody , Elena Maestrini

Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies.

Annals of clinical and translational neurology

Avec: Tommaso Pippucci , Laura Licchetta , Sara Baldassari , Caterina Marconi , Monica De Luise , Candace Myers , Elena Nardi , Federica Provini , Cinzia Cameli , Raffaella Minardi , Elena Bacchelli , Lucio Giordano , Giovanni Crichiutti , Giuseppe d'Orsi , Marco Seri , Giuseppe Gasparre , Heather C Mefford , Paolo Tinuper , Francesca Bisulli , Auteur inconnu

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

American journal of human genetics

Avec: Dmitrijs Rots , Sanaa Choufani , Victor Faundes , Alexander J M Dingemans , Shelagh Joss , Nicola Foulds , Elizabeth A Jones , Sarah Stewart , Pradeep Vasudevan , Tabib Dabir , Soo-Mi Park , Rosalyn Jewell , Natasha Brown , Lynn Pais , Sébastien Jacquemont , Khadijé Jizi , Conny M A van Ravenswaaij-Arts , Hester Y Kroes , Constance T R M Stumpel , Charlotte W Ockeloen , Illja J Diets , Mathilde Nizon , Marie Vincent , Benjamin Cogné , Thomas Besnard , Marios Kambouris , Emily Anderson , Elaine H Zackai , Carey McDougall , Sarah Donoghue , Anne O'Donnell-Luria , Zaheer Valivullah , Melanie O'Leary , Siddharth Srivastava , Heather Byers , Nancy Leslie , Sarah Mazzola , George E Tiller , Moin Vera , Joseph J Shen , Richard Boles , Vani Jain , Elise Brischoux-Boucher , Esther Kinning , Brittany N Simpson , Jacques C Giltay , Jacqueline Harris , Boris Keren , Anne Guimier , Pierre Marijon , Bert B A de Vries , Constance S Motter , Bryce A Mendelsohn , Samantha Coffino , Erica H Gerkes , Alexandra Afenjar , Paola Visconti , Elena Bacchelli , Elena Maestrini , Andree Delahaye-Duriez , Catherine Gooch , Yvonne Hendriks , Hieab Adams , Christel Thauvin-Robinet , Sarah Josephi-Taylor , Marta Bertoli , Michael J Parker , Julie W Rutten , Oana Caluseriu , Hilary J Vernon , Jonah Kaziyev , Jia Zhu , Jessica Kremen , Zoe Frazier , Hailey Osika , David Breault , Sreelata Nair , Suzanne M E Lewis , Fabiola Ceroni , Marta Viggiano , Annio Posar , Helen Brittain , Traficante Giovanna , Gori Giulia , Lina Quteineh , Russia Ha-Vinh Leuchter , Evelien Zonneveld-Huijssoon , Cecilia Mellado , Isabelle Marey , Alicia Coudert , Mariana Inés Aracena Alvarez , Milou G P Kennis , Arianne Bouman , Maian Roifman , María Inmaculada Amorós Rodríguez , Juan Dario Ortigoza-Escobar , Vivian Vernimmen , Margje Sinnema , Rolph Pfundt , Han G Brunner , Lisenka E L M Vissers , Tjitske Kleefstra , Rosanna Weksberg , Siddharth Banka

An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder.

Journal of cellular and molecular medicine

Avec: Cinzia Cameli , Marta Viggiano , Magali J Rochat , Alessandra Maresca , Leonardo Caporali , Claudio Fiorini , Flavia Palombo , Pamela Magini , Renée C Duardo , Fabiola Ceroni , Maria C Scaduto , Annio Posar , Marco Seri , Valerio Carelli , Paola Visconti , Elena Bacchelli , Elena Maestrini

Cluster Headache Genomewide Association Study and Meta-Analysis Identifies Eight Loci and Implicates Smoking as Causal Risk Factor.

Annals of neurology

Avec: Bendik S Winsvold , Aster V E Harder , Caroline Ran , Mona A Chalmer , Maria Carolina Dalmasso , Egil Ferkingstad , Kumar Parijat Tripathi , Elena Bacchelli , Sigrid Børte , Carmen Fourier , Anja S Petersen , Lisanne S Vijfhuizen , Sigurdur H Magnusson , Emer O'Connor , Gyda Bjornsdottir , Paavo Häppölä , Yen-Feng Wang , Ida Callesen , Tim Kelderman , Victor J Gallardo , Irene de Boer , Felicia Jennysdotter Olofsgård , Katja Heinze , Nunu Lund , Laurent F Thomas , Chia-Lin Hsu , Matti Pirinen , Heidi Hautakangas , Marta Ribasés , Simona Guerzoni , Prasanth Sivakumar , Janice Yip , Axel Heinze , Fahri Küçükali , Sisse R Ostrowski , Ole B Pedersen , Espen S Kristoffersen , Amy E Martinsen , María S Artigas , Susie Lagrata , Maria Michela Cainazzo , Joycee Adebimpe , Olivia Quinn , Carl Göbel , Anna Cirkel , Alexander E Volk , Stefanie Heilmann-Heimbach , Anne Heidi Skogholt , Maiken E Gabrielsen , Leopoldine A Wilbrink , Daisuke Danno , Dwij Mehta , Daníel F Guðbjartsson , Auteur inconnu , Frits R Rosendaal , Ko Willems van Dijk , Rolf Fronczek , Michael Wagner , Martin Scherer , Hartmut Göbel , Kristel Sleegers , Olafur A Sveinsson , Luca Pani , Michele Zoli , Josep A Ramos-Quiroga , Efthimios Dardiotis , Anna Steinberg , Steffi Riedel-Heller , Christina Sjöstrand , Thorgeir E Thorgeirsson , Hreinn Stefansson , Laura Southgate , Richard C Trembath , Jana Vandrovcova , Raymond Noordam , Koen Paemeleire , Kari Stefansson , Cathy Shen-Jang Fann , Elisabet Waldenlind , Erling Tronvik , Rigmor H Jensen , Shih-Pin Chen , Henry Houlden , Gisela M Terwindt , Christian Kubisch , Elena Maestrini , Michail Vikelis , Patricia Pozo-Rosich , Andrea C Belin , Manjit Matharu , Arn M J M van den Maagdenberg , Thomas F Hansen , Alfredo Ramirez , John-Anker Zwart , Auteur inconnu

The role of rare compound heterozygous events in autism spectrum disorder.

Translational psychiatry

Avec: Bochao Danae Lin , Fabrice Colas , Isaac J Nijman , Jelena Medic , William Brands , Jeremy R Parr , Kristel R van Eijk , Sabine M Klauck , Andreas G Chiocchetti , Christine M Freitag , Elena Maestrini , Elena Bacchelli , Hilary Coon , Astrid Vicente , Guiomar Oliveira , Alistair T Pagnamenta , Louise Gallagher , Sean Ennis , Richard Anney , Thomas Bourgeron , Jurjen J Luykx , Jacob Vorstman

Brain Magnetic Resonance Findings in 117 Children with Autism Spectrum Disorder under 5 Years Old.

Brain sciences

Avec: Magali Jane Rochat , Giacomo Distefano , Monica Maffei , Francesco Toni , Annio Posar , Maria Cristina Scaduto , Federica Resca , Cinzia Cameli , Elena Bacchelli , Elena Maestrini , Paola Visconti

Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies

Journal of clinical medicine

Avec: Elena Bacchelli , Eleonora Loi , Cinzia Cameli , Loredana Moi , Ana Florencia Vega-Benedetti , Sylvain Blois , Antonio Fadda , Elena Bonora , Sandra Mattu , Roberta Fadda , Rita Chessa , Elena Maestrini , Giuseppe Doneddu , Patrizia Zavattari

ELMOD3-SH2D6 gene fusion as a possible co-star actor in autism spectrum disorder scenario.

Journal of cellular and molecular medicine

Avec: Eleonora Loi , Loredana Moi , Sylvain Blois , Elena Bacchelli , Ana Florencia Vega Benedetti , Cinzia Cameli , Roberta Fadda , Elena Maestrini , Marinella Carta , Giuseppe Doneddu , Patrizia Zavattari

Contribution of

Frontiers in psychiatry

Avec: Marta Viggiano , Tiziano D'Andrea , Cinzia Cameli , Annio Posar , Paola Visconti , Maria Cristina Scaduto , Roberta Colucci , Magali J Rochat , Fabiola Ceroni , Giorgio Milazzo , Sergio Fucile , Elena Maestrini , Elena Bacchelli

Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder.

Frontiers in genetics

Avec: Leonardo Caporali , Claudio Fiorini , Flavia Palombo , Martina Romagnoli , Flavia Baccari , Corrado Zenesini , Paola Visconti , Annio Posar , Maria Cristina Scaduto , Danara Ormanbekova , Agatino Battaglia , Raffaella Tancredi , Cinzia Cameli , Marta Viggiano , Anna Olivieri , Antonio Torroni , Elena Maestrini , Magali Jane Rochat , Elena Bacchelli , Valerio Carelli , Alessandra Maresca

Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates.

NPJ genomic medicine

Avec: Marta Viggiano , Fabiola Ceroni , Paola Visconti , Annio Posar , Maria Cristina Scaduto , Laura Sandoni , Irene Baravelli , Cinzia Cameli , Magali J Rochat , Alessandra Maresca , Alessandro Vaisfeld , Davide Gentilini , Luciano Calzari , Valerio Carelli , Michael C Zody , Elena Maestrini , Elena Bacchelli

Réseau de co-auteurs

Elena Maestrini 12 collaborations

Cinzia Cameli 10 collaborations

Marta Viggiano 7 collaborations

Paola Visconti 7 collaborations

Annio Posar 7 collaborations

Fabiola Ceroni 5 collaborations

Alessandra Maresca 4 collaborations

Valerio Carelli 4 collaborations

Maria Cristina Scaduto 4 collaborations

None None 3 collaborations

Magali J Rochat 3 collaborations

Raffaella Tancredi 2 collaborations

Agatino Battaglia 2 collaborations

Laura Sandoni 2 collaborations

Irene Baravelli 2 collaborations

Alessandro Vaisfeld 2 collaborations

Davide Gentilini 2 collaborations

Luciano Calzari 2 collaborations

Marco Seri 2 collaborations

Leonardo Caporali 2 collaborations

Claudio Fiorini 2 collaborations

Flavia Palombo 2 collaborations

Magali Jane Rochat 2 collaborations

Eleonora Loi 2 collaborations

Loredana Moi 2 collaborations

Sylvain Blois 2 collaborations

Roberta Fadda 2 collaborations

Giuseppe Doneddu 2 collaborations

Patrizia Zavattari 2 collaborations

Roberta Igliozzi 1 collaboration

Alice Mancini 1 collaboration

Maria Scaduto 1 collaboration

Magali Rochat 1 collaboration

Michael Zody 1 collaboration

Tommaso Pippucci 1 collaboration

Laura Licchetta 1 collaboration

Sara Baldassari 1 collaboration

Caterina Marconi 1 collaboration

Monica De Luise 1 collaboration

Candace Myers 1 collaboration

Elena Nardi 1 collaboration

Federica Provini 1 collaboration

Raffaella Minardi 1 collaboration

Lucio Giordano 1 collaboration

Giovanni Crichiutti 1 collaboration

Giuseppe d'Orsi 1 collaboration

Giuseppe Gasparre 1 collaboration

Heather C Mefford 1 collaboration

Paolo Tinuper 1 collaboration

Francesca Bisulli 1 collaboration

Dmitrijs Rots 1 collaboration

Sanaa Choufani 1 collaboration

Victor Faundes 1 collaboration

Alexander J M Dingemans 1 collaboration

Shelagh Joss 1 collaboration

Nicola Foulds 1 collaboration

Elizabeth A Jones 1 collaboration

Sarah Stewart 1 collaboration

Pradeep Vasudevan 1 collaboration

Tabib Dabir 1 collaboration

Soo-Mi Park 1 collaboration

Rosalyn Jewell 1 collaboration

Natasha Brown 1 collaboration

Lynn Pais 1 collaboration

Sébastien Jacquemont 1 collaboration

Khadijé Jizi 1 collaboration

Conny M A van Ravenswaaij-Arts 1 collaboration

Hester Y Kroes 1 collaboration

Constance T R M Stumpel 1 collaboration

Charlotte W Ockeloen 1 collaboration

Illja J Diets 1 collaboration

Mathilde Nizon 1 collaboration

Marie Vincent 1 collaboration

Benjamin Cogné 1 collaboration

Thomas Besnard 1 collaboration

Marios Kambouris 1 collaboration

Emily Anderson 1 collaboration

Elaine H Zackai 1 collaboration

Carey McDougall 1 collaboration

Sarah Donoghue 1 collaboration

Anne O'Donnell-Luria 1 collaboration

Zaheer Valivullah 1 collaboration

Melanie O'Leary 1 collaboration

Siddharth Srivastava 1 collaboration

Heather Byers 1 collaboration

Nancy Leslie 1 collaboration

Sarah Mazzola 1 collaboration

George E Tiller 1 collaboration

Moin Vera 1 collaboration

Joseph J Shen 1 collaboration

Richard Boles 1 collaboration

Vani Jain 1 collaboration

Elise Brischoux-Boucher 1 collaboration

Esther Kinning 1 collaboration

Brittany N Simpson 1 collaboration

Jacques C Giltay 1 collaboration

Jacqueline Harris 1 collaboration

Boris Keren 1 collaboration

Anne Guimier 1 collaboration

Pierre Marijon 1 collaboration

Bert B A de Vries 1 collaboration

Constance S Motter 1 collaboration

Bryce A Mendelsohn 1 collaboration

Samantha Coffino 1 collaboration

Erica H Gerkes 1 collaboration

Alexandra Afenjar 1 collaboration

Andree Delahaye-Duriez 1 collaboration

Catherine Gooch 1 collaboration

Yvonne Hendriks 1 collaboration

Hieab Adams 1 collaboration

Christel Thauvin-Robinet 1 collaboration

Sarah Josephi-Taylor 1 collaboration

Marta Bertoli 1 collaboration

Michael J Parker 1 collaboration

Julie W Rutten 1 collaboration

Oana Caluseriu 1 collaboration

Hilary J Vernon 1 collaboration

Jonah Kaziyev 1 collaboration

Jia Zhu 1 collaboration

Jessica Kremen 1 collaboration

Zoe Frazier 1 collaboration

Hailey Osika 1 collaboration

David Breault 1 collaboration

Sreelata Nair 1 collaboration

Suzanne M E Lewis 1 collaboration

Helen Brittain 1 collaboration

Traficante Giovanna 1 collaboration

Gori Giulia 1 collaboration

Lina Quteineh 1 collaboration

Russia Ha-Vinh Leuchter 1 collaboration

Evelien Zonneveld-Huijssoon 1 collaboration

Cecilia Mellado 1 collaboration

Isabelle Marey 1 collaboration

Alicia Coudert 1 collaboration

Mariana Inés Aracena Alvarez 1 collaboration

Milou G P Kennis 1 collaboration

Arianne Bouman 1 collaboration

Maian Roifman 1 collaboration

María Inmaculada Amorós Rodríguez 1 collaboration

Juan Dario Ortigoza-Escobar 1 collaboration

Vivian Vernimmen 1 collaboration

Margje Sinnema 1 collaboration

Rolph Pfundt 1 collaboration

Han G Brunner 1 collaboration

Lisenka E L M Vissers 1 collaboration

Tjitske Kleefstra 1 collaboration

Rosanna Weksberg 1 collaboration

Siddharth Banka 1 collaboration

Pamela Magini 1 collaboration

Renée C Duardo 1 collaboration

Maria C Scaduto 1 collaboration

Bendik S Winsvold 1 collaboration

Aster V E Harder 1 collaboration

Caroline Ran 1 collaboration

Mona A Chalmer 1 collaboration

Maria Carolina Dalmasso 1 collaboration

Egil Ferkingstad 1 collaboration

Kumar Parijat Tripathi 1 collaboration

Sigrid Børte 1 collaboration

Carmen Fourier 1 collaboration

Anja S Petersen 1 collaboration

Lisanne S Vijfhuizen 1 collaboration

Sigurdur H Magnusson 1 collaboration

Emer O'Connor 1 collaboration

Gyda Bjornsdottir 1 collaboration

Paavo Häppölä 1 collaboration

Yen-Feng Wang 1 collaboration

Ida Callesen 1 collaboration

Tim Kelderman 1 collaboration

Victor J Gallardo 1 collaboration

Irene de Boer 1 collaboration

Felicia Jennysdotter Olofsgård 1 collaboration

Katja Heinze 1 collaboration

Nunu Lund 1 collaboration

Laurent F Thomas 1 collaboration

Chia-Lin Hsu 1 collaboration

Matti Pirinen 1 collaboration

Heidi Hautakangas 1 collaboration

Marta Ribasés 1 collaboration

Simona Guerzoni 1 collaboration

Prasanth Sivakumar 1 collaboration

Janice Yip 1 collaboration

Axel Heinze 1 collaboration

Fahri Küçükali 1 collaboration

Sisse R Ostrowski 1 collaboration

Ole B Pedersen 1 collaboration

Espen S Kristoffersen 1 collaboration

Amy E Martinsen 1 collaboration

María S Artigas 1 collaboration

Susie Lagrata 1 collaboration

Maria Michela Cainazzo 1 collaboration

Joycee Adebimpe 1 collaboration

Olivia Quinn 1 collaboration

Carl Göbel 1 collaboration

Anna Cirkel 1 collaboration

Alexander E Volk 1 collaboration

Stefanie Heilmann-Heimbach 1 collaboration

Anne Heidi Skogholt 1 collaboration

Maiken E Gabrielsen 1 collaboration

Leopoldine A Wilbrink 1 collaboration

Daisuke Danno 1 collaboration

Dwij Mehta 1 collaboration

Daníel F Guðbjartsson 1 collaboration

Frits R Rosendaal 1 collaboration

Ko Willems van Dijk 1 collaboration

Rolf Fronczek 1 collaboration

Michael Wagner 1 collaboration

Martin Scherer 1 collaboration

Hartmut Göbel 1 collaboration

Kristel Sleegers 1 collaboration

Olafur A Sveinsson 1 collaboration

Luca Pani 1 collaboration

Michele Zoli 1 collaboration

Josep A Ramos-Quiroga 1 collaboration

Efthimios Dardiotis 1 collaboration

Anna Steinberg 1 collaboration

Steffi Riedel-Heller 1 collaboration

Christina Sjöstrand 1 collaboration

Thorgeir E Thorgeirsson 1 collaboration

Hreinn Stefansson 1 collaboration

Laura Southgate 1 collaboration

Richard C Trembath 1 collaboration

Jana Vandrovcova 1 collaboration

Raymond Noordam 1 collaboration

Koen Paemeleire 1 collaboration

Kari Stefansson 1 collaboration

Cathy Shen-Jang Fann 1 collaboration

Elisabet Waldenlind 1 collaboration

Erling Tronvik 1 collaboration

Rigmor H Jensen 1 collaboration

Shih-Pin Chen 1 collaboration

Henry Houlden 1 collaboration

Gisela M Terwindt 1 collaboration

Christian Kubisch 1 collaboration

Michail Vikelis 1 collaboration

Patricia Pozo-Rosich 1 collaboration

Andrea C Belin 1 collaboration

Manjit Matharu 1 collaboration

Arn M J M van den Maagdenberg 1 collaboration

Thomas F Hansen 1 collaboration

Alfredo Ramirez 1 collaboration

John-Anker Zwart 1 collaboration

Bochao Danae Lin 1 collaboration

Fabrice Colas 1 collaboration

Isaac J Nijman 1 collaboration

Jelena Medic 1 collaboration

William Brands 1 collaboration

Jeremy R Parr 1 collaboration

Kristel R van Eijk 1 collaboration

Sabine M Klauck 1 collaboration

Andreas G Chiocchetti 1 collaboration

Christine M Freitag 1 collaboration

Hilary Coon 1 collaboration

Astrid Vicente 1 collaboration

Guiomar Oliveira 1 collaboration

Alistair T Pagnamenta 1 collaboration

Louise Gallagher 1 collaboration

Sean Ennis 1 collaboration

Richard Anney 1 collaboration

Thomas Bourgeron 1 collaboration

Jurjen J Luykx 1 collaboration

Jacob Vorstman 1 collaboration

Giacomo Distefano 1 collaboration

Monica Maffei 1 collaboration

Francesco Toni 1 collaboration

Federica Resca 1 collaboration

Ana Florencia Vega-Benedetti 1 collaboration

Antonio Fadda 1 collaboration

Elena Bonora 1 collaboration

Sandra Mattu 1 collaboration

Rita Chessa 1 collaboration

Ana Florencia Vega Benedetti 1 collaboration

Marinella Carta 1 collaboration

Tiziano D'Andrea 1 collaboration

Roberta Colucci 1 collaboration

Giorgio Milazzo 1 collaboration

Sergio Fucile 1 collaboration

Martina Romagnoli 1 collaboration

Flavia Baccari 1 collaboration

Corrado Zenesini 1 collaboration

Danara Ormanbekova 1 collaboration

Anna Olivieri 1 collaboration

Antonio Torroni 1 collaboration

Michael C Zody 1 collaboration