Cheryl Shoubridge

Jozef Gecz 3 collaborations

Alison Gardner 2 collaborations

Tessa Mattiske 2 collaborations

Marie Shaw 2 collaborations

Rolph Pfundt 2 collaborations

Julie McGaughran 2 collaborations

Luis A Pérez-Jurado 2 collaborations

Matilda R Jackson 2 collaborations

Karagh E Loring 2 collaborations

Tracy Dudding-Byth 2 collaborations

Matilda Jackson 1 collaboration

Bronwyn Grinton 1 collaboration

Samuel F Berkovic 1 collaboration

Ingrid E Scheffer 1 collaboration

Shannon Huskins 1 collaboration

Alison Thomas 1 collaboration

Tyson Ware 1 collaboration

Loredana Poeta 1 collaboration

Agnese Padula 1 collaboration

Benedetta Attianese 1 collaboration

Mariaelena Valentino 1 collaboration

Lucia Verrillo 1 collaboration

Stefania Filosa 1 collaboration

Adriano Barra 1 collaboration

Charles E Schwartz 1 collaboration

Jesper Christensen 1 collaboration

Hans van Bokhoven 1 collaboration

Kristian Helin 1 collaboration

Maria Brigida Lioi 1 collaboration

Patrick Collombat 1 collaboration

Lucia Altucci 1 collaboration

Elia Di Schiavi 1 collaboration

Maria Giuseppina Miano 1 collaboration

Monica H N Thai 1 collaboration

Laura Redpath 1 collaboration

Oliver Dearsley 1 collaboration

Anneke T Vulto-van Silfhout 1 collaboration

Joanne Dixon 1 collaboration

Jozef Gécz 1 collaboration

Jonathan Rodgers 1 collaboration

Sophie Calvert 1 collaboration

Macarena B Gonzalez 1 collaboration

Carl A Campugan 1 collaboration

Haley S Connaughton 1 collaboration

Eryk Andreas 1 collaboration

Yasmyn E Winstanley 1 collaboration

Elisha J Williams 1 collaboration

Camilla L Dorian 1 collaboration

Sarah A Robertson 1 collaboration

Rebecca L Robker 1 collaboration

Claire C Homan 1 collaboration

Monica Hn Thai 1 collaboration

Laura Määttänen 1 collaboration

Maria Arvio 1 collaboration

Irma Jarvela 1 collaboration

Elizabeth Emma Palmer 1 collaboration

Rani Sachdev 1 collaboration

Rebecca Macintosh 1 collaboration

Uirá Souto Melo 1 collaboration

Stefan Mundlos 1 collaboration

Sarah Righetti 1 collaboration

Tejaswi Kandula 1 collaboration

Andre E Minoche 1 collaboration

Clare Puttick 1 collaboration

Velimir Gayevskiy 1 collaboration

Luke Hesson 1 collaboration

Senel Idrisoglu 1 collaboration

Monica Hong Ngoc Thai 1 collaboration

Ryan L Davis 1 collaboration

Alexander P Drew 1 collaboration

Hugo Sampaio 1 collaboration

Peter Ian Andrews 1 collaboration

John Lawson 1 collaboration

Michael Cardamone 1 collaboration

David Mowat 1 collaboration

Alison Colley 1 collaboration

Sarah Kummerfeld 1 collaboration

Marcel E Dinger 1 collaboration

Mark J Cowley 1 collaboration

Tony Roscioli 1 collaboration

Ann Bye 1 collaboration

Edwin Kirk 1 collaboration

Kristie Lee 1 collaboration

Aneta Zysk 1 collaboration

Jeffrey L Noebels 1 collaboration

Robert J Harvey 1 collaboration

Laurent Pasquier 1 collaboration

Himanshu Goel 1 collaboration

Patrick Yap 1 collaboration

Vivienne McConnell 1 collaboration

Dong Li 1 collaboration

Qin Wang 1 collaboration

Allan Bayat 1 collaboration

Mark R Battig 1 collaboration

Yijing Zhou 1 collaboration

Daniëlle Gm Bosch 1 collaboration

Gijs van Haaften 1 collaboration

Leslie Granger 1 collaboration

Andrea K Petersen 1 collaboration

Gemma Aznar-Laín 1 collaboration

Anushree Aneja 1 collaboration

Miroslava Hancarova 1 collaboration

Sarka Bendova 1 collaboration

Martin Schwarz 1 collaboration

Radka Kremlíková Pourová 1 collaboration

Zdenek Sedlacek 1 collaboration

Beth A Keena 1 collaboration

Michael E March 1 collaboration

Cuiping Hou 1 collaboration

Nora O'Connor 1 collaboration

Elizabeth J Bhoj 1 collaboration

Margaret H Harr 1 collaboration

Gabrielle Lemire 1 collaboration

Kym M Boycott 1 collaboration

Meghan C Towne 1 collaboration

Megan Li 1 collaboration

Mark Tarnopolsky 1 collaboration

Lauren Brady 1 collaboration

Michael J Parker 1 collaboration

Hanna Faghfoury 1 collaboration

Lea Kristin Parsley 1 collaboration

Emanuele Agolini 1 collaboration

Maria Lisa Dentici 1 collaboration

Antonio Novelli 1 collaboration

Meredith S Wright 1 collaboration

Rachel Palmquist 1 collaboration

Khanh Lai 1 collaboration

Marcello Scala 1 collaboration

Pasquale Striano 1 collaboration

Michele Iacomino 1 collaboration

Federico Zara 1 collaboration

Annina Cooper 1 collaboration

Timothy J Maarup 1 collaboration

Melissa Byler 1 collaboration

Robert Roger Lebel 1 collaboration

Tugce B Balci 1 collaboration

Raymond J Louie 1 collaboration

Michael J Lyons 1 collaboration

Jessica Douglas 1 collaboration

Catherine B Nowak 1 collaboration

Alexandra Afenjar 1 collaboration

Juliane Hoyer 1 collaboration

Boris Keren 1 collaboration

Saskia M Maas 1 collaboration

Mahdi M Motazacker 1 collaboration

Julian A Martinez-Agosto 1 collaboration

Ahna M Rabani 1 collaboration

Elizabeth M McCormick 1 collaboration

Marni Falk 1 collaboration

Sarah M Ruggiero 1 collaboration

Ingo Helbig 1 collaboration

Rikke S Møller 1 collaboration

Lino Tessarollo 1 collaboration

Francesco Tomassoni-Ardori 1 collaboration

Mary Ellen Palko 1 collaboration

Tzung-Chien Hsieh 1 collaboration

Peter M Krawitz 1 collaboration

Mythily Ganapathi 1 collaboration

Bruce D Gelb 1 collaboration

Vaidehi Jobanputra 1 collaboration

Ashley Wilson 1 collaboration

John Greally 1 collaboration

Sébastien Jacquemont 1 collaboration

Khadijé Jizi 1 collaboration

Bruel Ange-Line 1 collaboration

Chloé Quelin 1 collaboration

Vinod K Misra 1 collaboration

Erika Chick 1 collaboration

Corrado Romano 1 collaboration

Donatella Greco 1 collaboration

Alessia Arena 1 collaboration

Manuela Morleo 1 collaboration

Vincenzo Nigro 1 collaboration

Rie Seyama 1 collaboration

Yuri Uchiyama 1 collaboration

Naomichi Matsumoto 1 collaboration

Ryoji Taira 1 collaboration

Katsuya Tashiro 1 collaboration

Yasunari Sakai 1 collaboration

Gökhan Yigit 1 collaboration

Bernd Wollnik 1 collaboration

Michael Wagner 1 collaboration

Barbara Kutsche 1 collaboration

Anna Ce Hurst 1 collaboration

Michelle L Thompson 1 collaboration

Ryan J Schmidt 1 collaboration

Linda M Randolph 1 collaboration

Rebecca C Spillmann 1 collaboration

Vandana Shashi 1 collaboration

Edward J Higginbotham 1 collaboration

Dawn Cordeiro 1 collaboration

Amanda Carnevale 1 collaboration

Gregory Costain 1 collaboration

Tayyaba Khan 1 collaboration

Benoît Funalot 1 collaboration

Frederic Tran Mau-Them 1 collaboration

Luis Fernandez Garcia Moya 1 collaboration

Sixto García-Miñaúr 1 collaboration

Matthew Osmond 1 collaboration

Lauren Chad 1 collaboration

Nada Quercia 1 collaboration

Diana Carrasco 1 collaboration

Chumei Li 1 collaboration

Amarilis Sanchez-Valle 1 collaboration

Meghan Kelley 1 collaboration

Mathilde Nizon 1 collaboration

Brynjar O Jensson 1 collaboration

Patrick Sulem 1 collaboration

Kari Stefansson 1 collaboration

Svetlana Gorokhova 1 collaboration

Tiffany Busa 1 collaboration

Marlène Rio 1 collaboration

Hamza Hadj Abdallah 1 collaboration

Marion Lesieur-Sebellin 1 collaboration

Jeanne Amiel 1 collaboration

Véronique Pingault 1 collaboration

Sandra Mercier 1 collaboration

Marie Vincent 1 collaboration

Christophe Philippe 1 collaboration

Clemence Fatus-Fauconnier 1 collaboration

Kathryn Friend 1 collaboration

Rebecca K Halligan 1 collaboration

Sunita Biswas 1 collaboration

Jane Mr Rosser 1 collaboration

Mark A Corbett 1 collaboration

Christopher Barnett 1 collaboration

Kathleen A Leppig 1 collaboration

Anne Slavotinek 1 collaboration

Carlo Marcelis 1 collaboration

Bert Ba de Vries 1 collaboration

Marjon A van Slegtenhorst 1 collaboration

Alice S Brooks 1 collaboration

Benjamin Cogne 1 collaboration

Thomas Rambaud 1 collaboration

Zeynep Tümer 1 collaboration

Elaine H Zackai 1 collaboration

Naiara Akizu 1 collaboration

Yuanquan Song 1 collaboration

Hakon Hakonarson 1 collaboration

Affiliations

Publications (11)

Splice variant in ARX leading to loss of C-terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy.

Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders.

Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance.

A novel ARX loss of function variant in female monozygotic twins is associated with chorea.

REPRODUCTIVE AGEING: BGP-15 mitigates adverse impacts of aging on sperm quality, fertility, and offspring health in male mice.

Heterozygous loss of function of

Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies.

Early 17β-estradiol treatment reduces seizures but not abnormal behaviour in mice with expanded polyalanine tracts in the Aristaless related homeobox gene (ARX).

IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy.

IQSEC2-related encephalopathy in males due to missense variants in the pleckstrin homology domain.

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.

Réseau de co-auteurs