Ornella Galesi

Affiliations

Oasi Research Institute-IRCCS, Troina, Italy.

ORCID: 0000-0002-7877-938X

Publications (13)

Disruptive variants of

Science advances

Avec: Hui Guo , Ying Li , Lu Shen , Tianyun Wang , Xiangbin Jia , Lijuan Liu , Tao Xu , Mengzhu Ou , Kendra Hoekzema , Huidan Wu , Madelyn A Gillentine , Cenying Liu , Hailun Ni , Pengwei Peng , Rongjuan Zhao , Yu Zhang , Chanika Phornphutkul , Alexander P A Stegmann , Carlos E Prada , Robert J Hopkin , Joseph T Shieh , Kirsty McWalter , Kristin G Monaghan , Peter M van Hasselt , Koen van Gassen , Ting Bai , Min Long , Lin Han , Yingting Quan , Meilin Chen , Yaowen Zhang , Kuokuo Li , Qiumeng Zhang , Jieqiong Tan , Tengfei Zhu , Yaning Liu , Nan Pang , Jing Peng , Daryl A Scott , Seema R Lalani , Mahshid Azamian , Grazia M S Mancini , Darius J Adams , Malin Kvarnung , Anna Lindstrand , Ann Nordgren , Jonathan Pevsner , Ikeoluwa A Osei-Owusu , Corrado Romano , Giuseppe Calabrese , Ornella Galesi , Jozef Gecz , Eric Haan , Judith Ranells , Melissa Racobaldo , Magnus Nordenskjold , Suneeta Madan-Khetarpal , Jessica Sebastian , Susie Ball , Xiaobing Zou , Jingping Zhao , Zhengmao Hu , Fan Xia , Pengfei Liu , Jill A Rosenfeld , Bert B A de Vries , Raphael A Bernier , Zhi-Qing David Xu , Honghui Li , Wei Xie , Robert B Hufnagel , Evan E Eichler , Kun Xia

Trait - driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes.

Genes & genomics

Avec: Martina Miceli , Pinella Failla , Lucia Saccuzzo , Ornella Galesi , Silvestra Amata , Corrado Romano , Maria Clara Bonaglia , Marco Fichera

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Lucilla Pizzo , Matthew Jensen , Andrew Polyak , Jill A Rosenfeld , Katrin Mannik , Arjun Krishnan , Elizabeth McCready , Olivier Pichon , Cedric Le Caignec , Anke Van Dijck , Kate Pope , Els Voorhoeve , Jieun Yoon , Paweł Stankiewicz , Sau Wai Cheung , Damian Pazuchanics , Emily Huber , Vijay Kumar , Rachel L Kember , Francesca Mari , Aurora Curró , Lucia Castiglia , Ornella Galesi , Emanuela Avola , Teresa Mattina , Marco Fichera , Luana Mandarà , Marie Vincent , Mathilde Nizon , Sandra Mercier , Claire Bénéteau , Sophie Blesson , Dominique Martin-Coignard , Anne-Laure Mosca-Boidron , Jean-Hubert Caberg , Maja Bucan , Susan Zeesman , Małgorzata J M Nowaczyk , Mathilde Lefebvre , Laurence Faivre , Patrick Callier , Cindy Skinner , Boris Keren , Charles Perrine , Paolo Prontera , Nathalie Marle , Alessandra Renieri , Alexandre Reymond , R Frank Kooy , Bertrand Isidor , Charles Schwartz , Corrado Romano , Erik Sistermans , David J Amor , Joris Andrieux , Santhosh Girirajan

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

Genome medicine

Avec: Madelyn A Gillentine , Tianyun Wang , Kendra Hoekzema , Jill Rosenfeld , Pengfei Liu , Hui Guo , Chang N Kim , Bert B A De Vries , Lisenka E L M Vissers , Magnus Nordenskjold , Malin Kvarnung , Anna Lindstrand , Ann Nordgren , Jozef Gecz , Maria Iascone , Anna Cereda , Agnese Scatigno , Silvia Maitz , Ginevra Zanni , Enrico Bertini , Christiane Zweier , Sarah Schuhmann , Antje Wiesener , Micah Pepper , Heena Panjwani , Erin Torti , Farida Abid , Irina Anselm , Siddharth Srivastava , Paldeep Atwal , Carlos A Bacino , Gifty Bhat , Katherine Cobian , Lynne M Bird , Jennifer Friedman , Meredith S Wright , Bert Callewaert , Florence Petit , Sophie Mathieu , Alexandra Afenjar , Celenie K Christensen , Kerry M White , Orly Elpeleg , Itai Berger , Edward J Espineli , Christina Fagerberg , Charlotte Brasch-Andersen , Lars Kjærsgaard Hansen , Timothy Feyma , Susan Hughes , Isabelle Thiffault , Bonnie Sullivan , Shuang Yan , Kory Keller , Boris Keren , Cyril Mignot , Frank Kooy , Marije Meuwissen , Alice Basinger , Mary Kukolich , Meredith Philips , Lucia Ortega , Margaret Drummond-Borg , Mathilde Lauridsen , Kristina Sorensen , Anna Lehman , Auteur inconnu , Elena Lopez-Rangel , Paul Levy , Davor Lessel , Timothy Lotze , Suneeta Madan-Khetarpal , Jessica Sebastian , Jodie Vento , Divya Vats , L Manace Benman , Shane Mckee , Ghayda M Mirzaa , Candace Muss , John Pappas , Hilde Peeters , Corrado Romano , Maurizio Elia , Ornella Galesi , Marleen E H Simon , Koen L I van Gassen , Kara Simpson , Robert Stratton , Sabeen Syed , Julien Thevenon , Irene Valenzuela Palafoll , Antonio Vitobello , Marie Bournez , Laurence Faivre , Kun Xia , Auteur inconnu , Rachel K Earl , Tomasz Nowakowski , Raphael A Bernier , Evan E Eichler

Heterozygous Deletion of Long Noncoding RNA AK127244 Is a Susceptibility Factor for Neurodevelopmental Delay.

Cytogenetic and genome research

Avec: Emanuele G Coci , Ornella Galesi , Thomas Morgan , Sabrina Giglio , Elsebet Ostergaard , Maurizio Elia

Phenotypic Spectrum of

Genes

Avec: Veronica Bertini , Francesca Cambi , Alessandro Orsini , Alice Bonuccelli , Aureliano Fiorini , Andrea Santangelo , Massimo Scacciati , Maurizio Elia , Ornella Galesi , Diego Peroni , Angelo Valetto

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

medRxiv : the preprint server for health sciences

Avec: Matthew Jensen , Corrine Smolen , Anastasia Tyryshkina , Lucilla Pizzo , Deepro Banerjee , Matthew Oetjens , Hermela Shimelis , Cora M Taylor , Vijay Kumar Pounraja , Hyebin Song , Laura Rohan , Emily Huber , Laila El Khattabi , Ingrid van de Laar , Rafik Tadros , Connie Bezzina , Marjon van Slegtenhorst , Janneke Kammeraad , Paolo Prontera , Jean-Hubert Caberg , Harry Fraser , Siddhartha Banka , Anke Van Dijck , Charles Schwartz , Els Voorhoeve , Patrick Callier , Anne-Laure Mosca-Boidron , Nathalie Marle , Mathilde Lefebvre , Kate Pope , Penny Snell , Amber Boys , Paul J Lockhart , Myla Ashfaq , Elizabeth McCready , Margaret Nowacyzk , Lucia Castiglia , Ornella Galesi , Emanuela Avola , Teresa Mattina , Marco Fichera , Maria Grazia Bruccheri , Giuseppa Maria Luana Mandarà , Francesca Mari , Flavia Privitera , Ilaria Longo , Aurora Curró , Alessandra Renieri , Boris Keren , Perrine Charles , Silvestre Cuinat , Mathilde Nizon , Olivier Pichon , Claire Bénéteau , Radka Stoeva , Dominique Martin-Coignard , Sophia Blesson , Cedric Le Caignec , Sandra Mercier , Marie Vincent , Christa Martin , Katrin Mannik , Alexandre Reymond , Laurence Faivre , Erik Sistermans , R Frank Kooy , David J Amor , Corrado Romano , Joris Andrieux , Santhosh Girirajan

Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy.

Human genetics

Avec: Marco Fichera , Pinella Failla , Lucia Saccuzzo , Martina Miceli , Eliana Salvo , Lucia Castiglia , Ornella Galesi , Lucia Grillo , Francesco Calì , Donatella Greco , Carmelo Amato , Corrado Romano , Maurizio Elia

Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder.

European journal of human genetics : EJHG

Avec: Carmela Scuderi , Lucia Saccuzzo , Mirella Vinci , Lucia Castiglia , Ornella Galesi , Michele Salemi , Teresa Mattina , Eugenia Borgione , Santina Città , Corrado Romano , Marco Fichera

8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature.

Genes

Avec: Ilaria Catusi , Maria Garzo , Anna Paola Capra , Silvana Briuglia , Chiara Baldo , Maria Paola Canevini , Rachele Cantone , Flaviana Elia , Francesca Forzano , Ornella Galesi , Enrico Grosso , Michela Malacarne , Angela Peron , Corrado Romano , Monica Saccani , Lidia Larizza , Maria Paola Recalcati

Dyslexia and Attention Deficit Hyperactivity Disorder Associated to a De Novo 1p34.3 Microdeletion.

Genes

Avec: Ornella Galesi , Francesco Domenico Di Blasi , Lucia Grillo , Flaviana Elia , Maria Concetta Giambirtone , Maria Grazia Figura , Biagio Rizzo , Serafino Buono , Corrado Romano

Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.

medRxiv : the preprint server for health sciences

Avec: Corrine Smolen , Matthew Jensen , Lisa Dyer , Lucilla Pizzo , Anastasia Tyryshkina , Deepro Banerjee , Laura Rohan , Emily Huber , Laila El Khattabi , Paolo Prontera , Jean-Hubert Caberg , Anke Van Dijck , Charles Schwartz , Laurence Faivre , Patrick Callier , Anne-Laure Mosca-Boidron , Mathilde Lefebvre , Kate Pope , Penny Snell , Paul J Lockhart , Lucia Castiglia , Ornella Galesi , Emanuela Avola , Teresa Mattina , Marco Fichera , Giuseppa Maria Luana Mandarà , Maria Grazia Bruccheri , Olivier Pichon , Cedric Le Caignec , Radka Stoeva , Silvestre Cuinat , Sandra Mercier , Claire Bénéteau , Sophie Blesson , Ashley Nordsletten , Dominique Martin-Coignard , Erik Sistermans , R Frank Kooy , David J Amor , Corrado Romano , Bertrand Isidor , Jane Juusola , Santhosh Girirajan

Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.

American journal of human genetics

Avec: Corrine Smolen , Matthew Jensen , Lisa Dyer , Lucilla Pizzo , Anastasia Tyryshkina , Deepro Banerjee , Laura Rohan , Emily Huber , Laila El Khattabi , Paolo Prontera , Jean-Hubert Caberg , Anke Van Dijck , Charles Schwartz , Laurence Faivre , Patrick Callier , Anne-Laure Mosca-Boidron , Mathilde Lefebvre , Kate Pope , Penny Snell , Paul J Lockhart , Lucia Castiglia , Ornella Galesi , Emanuela Avola , Teresa Mattina , Marco Fichera , Giuseppa Maria Luana Mandarà , Maria Grazia Bruccheri , Olivier Pichon , Cedric Le Caignec , Radka Stoeva , Silvestre Cuinat , Sandra Mercier , Claire Bénéteau , Sophie Blesson , Ashley Nordsletten , Dominique Martin-Coignard , Erik Sistermans , R Frank Kooy , David J Amor , Corrado Romano , Bertrand Isidor , Jane Juusola , Santhosh Girirajan

Réseau de co-auteurs

Corrado Romano 11 collaborations

Marco Fichera 7 collaborations

Lucia Castiglia 6 collaborations

Teresa Mattina 5 collaborations

Laurence Faivre 5 collaborations

Lucilla Pizzo 4 collaborations

Matthew Jensen 4 collaborations

Olivier Pichon 4 collaborations

Cedric Le Caignec 4 collaborations

Anke Van Dijck 4 collaborations

Kate Pope 4 collaborations

Emily Huber 4 collaborations

Emanuela Avola 4 collaborations

Sandra Mercier 4 collaborations

Claire Bénéteau 4 collaborations

Dominique Martin-Coignard 4 collaborations

Anne-Laure Mosca-Boidron 4 collaborations

Jean-Hubert Caberg 4 collaborations

Mathilde Lefebvre 4 collaborations

Patrick Callier 4 collaborations

Paolo Prontera 4 collaborations

R Frank Kooy 4 collaborations

Charles Schwartz 4 collaborations

Erik Sistermans 4 collaborations

David J Amor 4 collaborations

Santhosh Girirajan 4 collaborations

Maurizio Elia 4 collaborations

Lucia Saccuzzo 3 collaborations

Sophie Blesson 3 collaborations

Boris Keren 3 collaborations

Bertrand Isidor 3 collaborations

Corrine Smolen 3 collaborations

Anastasia Tyryshkina 3 collaborations

Deepro Banerjee 3 collaborations

Laura Rohan 3 collaborations

Laila El Khattabi 3 collaborations

Penny Snell 3 collaborations

Paul J Lockhart 3 collaborations

Maria Grazia Bruccheri 3 collaborations

Giuseppa Maria Luana Mandarà 3 collaborations

Silvestre Cuinat 3 collaborations

Radka Stoeva 3 collaborations

Hui Guo 2 collaborations

Tianyun Wang 2 collaborations

Kendra Hoekzema 2 collaborations

Madelyn A Gillentine 2 collaborations

Malin Kvarnung 2 collaborations

Anna Lindstrand 2 collaborations

Ann Nordgren 2 collaborations

Jozef Gecz 2 collaborations

Magnus Nordenskjold 2 collaborations

Suneeta Madan-Khetarpal 2 collaborations

Jessica Sebastian 2 collaborations

Pengfei Liu 2 collaborations

Jill A Rosenfeld 2 collaborations

Raphael A Bernier 2 collaborations

Evan E Eichler 2 collaborations

Kun Xia 2 collaborations

Martina Miceli 2 collaborations

Pinella Failla 2 collaborations

Katrin Mannik 2 collaborations

Elizabeth McCready 2 collaborations

Els Voorhoeve 2 collaborations

Francesca Mari 2 collaborations

Aurora Curró 2 collaborations

Marie Vincent 2 collaborations

Mathilde Nizon 2 collaborations

Nathalie Marle 2 collaborations

Alessandra Renieri 2 collaborations

Alexandre Reymond 2 collaborations

Joris Andrieux 2 collaborations

None None 2 collaborations

Lucia Grillo 2 collaborations

Flaviana Elia 2 collaborations

Lisa Dyer 2 collaborations

Ashley Nordsletten 2 collaborations

Jane Juusola 2 collaborations

Ying Li 1 collaboration

Lu Shen 1 collaboration

Xiangbin Jia 1 collaboration

Lijuan Liu 1 collaboration

Tao Xu 1 collaboration

Mengzhu Ou 1 collaboration

Huidan Wu 1 collaboration

Cenying Liu 1 collaboration

Hailun Ni 1 collaboration

Pengwei Peng 1 collaboration

Rongjuan Zhao 1 collaboration

Yu Zhang 1 collaboration

Chanika Phornphutkul 1 collaboration

Alexander P A Stegmann 1 collaboration

Carlos E Prada 1 collaboration

Robert J Hopkin 1 collaboration

Joseph T Shieh 1 collaboration

Kirsty McWalter 1 collaboration

Kristin G Monaghan 1 collaboration

Peter M van Hasselt 1 collaboration

Koen van Gassen 1 collaboration

Ting Bai 1 collaboration

Min Long 1 collaboration

Lin Han 1 collaboration

Yingting Quan 1 collaboration

Meilin Chen 1 collaboration

Yaowen Zhang 1 collaboration

Kuokuo Li 1 collaboration

Qiumeng Zhang 1 collaboration

Jieqiong Tan 1 collaboration

Tengfei Zhu 1 collaboration

Yaning Liu 1 collaboration

Nan Pang 1 collaboration

Jing Peng 1 collaboration

Daryl A Scott 1 collaboration

Seema R Lalani 1 collaboration

Mahshid Azamian 1 collaboration

Grazia M S Mancini 1 collaboration

Darius J Adams 1 collaboration

Jonathan Pevsner 1 collaboration

Ikeoluwa A Osei-Owusu 1 collaboration

Giuseppe Calabrese 1 collaboration

Eric Haan 1 collaboration

Judith Ranells 1 collaboration

Melissa Racobaldo 1 collaboration

Susie Ball 1 collaboration

Xiaobing Zou 1 collaboration

Jingping Zhao 1 collaboration

Zhengmao Hu 1 collaboration

Fan Xia 1 collaboration

Bert B A de Vries 1 collaboration

Zhi-Qing David Xu 1 collaboration

Honghui Li 1 collaboration

Wei Xie 1 collaboration

Robert B Hufnagel 1 collaboration

Silvestra Amata 1 collaboration

Maria Clara Bonaglia 1 collaboration

Andrew Polyak 1 collaboration

Arjun Krishnan 1 collaboration

Jieun Yoon 1 collaboration

Paweł Stankiewicz 1 collaboration

Sau Wai Cheung 1 collaboration

Damian Pazuchanics 1 collaboration

Vijay Kumar 1 collaboration

Rachel L Kember 1 collaboration

Luana Mandarà 1 collaboration

Maja Bucan 1 collaboration

Susan Zeesman 1 collaboration

Małgorzata J M Nowaczyk 1 collaboration

Cindy Skinner 1 collaboration

Charles Perrine 1 collaboration

Jill Rosenfeld 1 collaboration

Chang N Kim 1 collaboration

Bert B A De Vries 1 collaboration

Lisenka E L M Vissers 1 collaboration

Maria Iascone 1 collaboration

Anna Cereda 1 collaboration

Agnese Scatigno 1 collaboration

Silvia Maitz 1 collaboration

Ginevra Zanni 1 collaboration

Enrico Bertini 1 collaboration

Christiane Zweier 1 collaboration

Sarah Schuhmann 1 collaboration

Antje Wiesener 1 collaboration

Micah Pepper 1 collaboration

Heena Panjwani 1 collaboration

Erin Torti 1 collaboration

Farida Abid 1 collaboration

Irina Anselm 1 collaboration

Siddharth Srivastava 1 collaboration

Paldeep Atwal 1 collaboration

Carlos A Bacino 1 collaboration

Gifty Bhat 1 collaboration

Katherine Cobian 1 collaboration

Lynne M Bird 1 collaboration

Jennifer Friedman 1 collaboration

Meredith S Wright 1 collaboration

Bert Callewaert 1 collaboration

Florence Petit 1 collaboration

Sophie Mathieu 1 collaboration

Alexandra Afenjar 1 collaboration

Celenie K Christensen 1 collaboration

Kerry M White 1 collaboration

Orly Elpeleg 1 collaboration

Itai Berger 1 collaboration

Edward J Espineli 1 collaboration

Christina Fagerberg 1 collaboration

Charlotte Brasch-Andersen 1 collaboration

Lars Kjærsgaard Hansen 1 collaboration

Timothy Feyma 1 collaboration

Susan Hughes 1 collaboration

Isabelle Thiffault 1 collaboration

Bonnie Sullivan 1 collaboration

Shuang Yan 1 collaboration

Kory Keller 1 collaboration

Cyril Mignot 1 collaboration

Frank Kooy 1 collaboration

Marije Meuwissen 1 collaboration

Alice Basinger 1 collaboration

Mary Kukolich 1 collaboration

Meredith Philips 1 collaboration

Lucia Ortega 1 collaboration

Margaret Drummond-Borg 1 collaboration

Mathilde Lauridsen 1 collaboration

Kristina Sorensen 1 collaboration

Anna Lehman 1 collaboration

Elena Lopez-Rangel 1 collaboration

Paul Levy 1 collaboration

Davor Lessel 1 collaboration

Timothy Lotze 1 collaboration

Jodie Vento 1 collaboration

Divya Vats 1 collaboration

L Manace Benman 1 collaboration

Shane Mckee 1 collaboration

Ghayda M Mirzaa 1 collaboration

Candace Muss 1 collaboration

John Pappas 1 collaboration

Hilde Peeters 1 collaboration

Marleen E H Simon 1 collaboration

Koen L I van Gassen 1 collaboration

Kara Simpson 1 collaboration

Robert Stratton 1 collaboration

Sabeen Syed 1 collaboration

Julien Thevenon 1 collaboration

Irene Valenzuela Palafoll 1 collaboration

Antonio Vitobello 1 collaboration

Marie Bournez 1 collaboration

Rachel K Earl 1 collaboration

Tomasz Nowakowski 1 collaboration

Emanuele G Coci 1 collaboration

Thomas Morgan 1 collaboration

Sabrina Giglio 1 collaboration

Elsebet Ostergaard 1 collaboration

Veronica Bertini 1 collaboration

Francesca Cambi 1 collaboration

Alessandro Orsini 1 collaboration

Alice Bonuccelli 1 collaboration

Aureliano Fiorini 1 collaboration

Andrea Santangelo 1 collaboration

Massimo Scacciati 1 collaboration

Diego Peroni 1 collaboration

Angelo Valetto 1 collaboration

Matthew Oetjens 1 collaboration

Hermela Shimelis 1 collaboration

Cora M Taylor 1 collaboration

Vijay Kumar Pounraja 1 collaboration

Hyebin Song 1 collaboration

Ingrid van de Laar 1 collaboration

Rafik Tadros 1 collaboration

Connie Bezzina 1 collaboration

Marjon van Slegtenhorst 1 collaboration

Janneke Kammeraad 1 collaboration

Harry Fraser 1 collaboration

Siddhartha Banka 1 collaboration

Amber Boys 1 collaboration

Myla Ashfaq 1 collaboration

Margaret Nowacyzk 1 collaboration

Flavia Privitera 1 collaboration

Ilaria Longo 1 collaboration

Perrine Charles 1 collaboration

Sophia Blesson 1 collaboration

Christa Martin 1 collaboration

Eliana Salvo 1 collaboration

Francesco Calì 1 collaboration

Donatella Greco 1 collaboration

Carmelo Amato 1 collaboration

Carmela Scuderi 1 collaboration

Mirella Vinci 1 collaboration

Michele Salemi 1 collaboration

Eugenia Borgione 1 collaboration

Santina Città 1 collaboration

Ilaria Catusi 1 collaboration

Maria Garzo 1 collaboration

Anna Paola Capra 1 collaboration

Silvana Briuglia 1 collaboration

Chiara Baldo 1 collaboration

Maria Paola Canevini 1 collaboration

Rachele Cantone 1 collaboration

Francesca Forzano 1 collaboration

Enrico Grosso 1 collaboration

Michela Malacarne 1 collaboration

Angela Peron 1 collaboration

Monica Saccani 1 collaboration

Lidia Larizza 1 collaboration

Maria Paola Recalcati 1 collaboration

Francesco Domenico Di Blasi 1 collaboration

Maria Concetta Giambirtone 1 collaboration

Maria Grazia Figura 1 collaboration

Biagio Rizzo 1 collaboration

Serafino Buono 1 collaboration