Elisabeth Gabau

Anna Ruiz 12 collaborations

Miriam Guitart 6 collaborations

Cinthia Aguilera 4 collaborations

Neus Baena 4 collaborations

Nino Spataro 4 collaborations

Núria Capdevila 3 collaborations

None None 3 collaborations

Boris Keren 3 collaborations

Blanca Gener 2 collaborations

Hanka Venselaar 2 collaborations

Aurélien Trimouille 2 collaborations

Eulalie Lasseaux 2 collaborations

Didier Lacombe 2 collaborations

Catherine Vincent-Delorme 2 collaborations

Christiane Zweier 2 collaborations

André Reis 2 collaborations

Rolph Pfundt 2 collaborations

Arjan P M de Brouwer 2 collaborations

Susanna Esteba-Castillo 2 collaborations

Olga Giménez-Palop 2 collaborations

Jesus Pujol 2 collaborations

Joan Deus 2 collaborations

Steve Laurie 2 collaborations

Sophia Derdak 2 collaborations

Veronica Delgadillo 2 collaborations

Carme Brun 2 collaborations

Arthur Sorlin 2 collaborations

Zoe Powis 2 collaborations

Nicole Revencu 2 collaborations

Alexandra Afenjar 2 collaborations

Raquel Corripio 2 collaborations

Nuria Capdevila 2 collaborations

Fadi F Hamdan 2 collaborations

Jacques L Michaud 2 collaborations

Frederic Tran Mau-Them 2 collaborations

Kirsty McWalter 2 collaborations

Nekane Ibarluzea 1 collaboration

Ana Belén de la Hoz 1 collaboration

Olatz Villate 1 collaboration

Isabel Llano 1 collaboration

Intzane Ocio 1 collaboration

Itxaso Martí 1 collaboration

Fernando Andrade 1 collaboration

María-Isabel Tejada 1 collaboration

Maria J Nabais Sá 1 collaboration

Laurens Wiel 1 collaboration

Sophie Naudion 1 collaboration

Amélie Piton 1 collaboration

Regina Trollmann 1 collaboration

Annalisa Vetro 1 collaboration

Renzo Guerrini 1 collaboration

Somayeh Bakhtiari 1 collaboration

Michael C Kruer 1 collaboration

David J Amor 1 collaboration

Monica S Cooper 1 collaboration

Emilia K Bijlsma 1 collaboration

Tahsin Stefan Barakat 1 collaboration

Marieke F van Dooren 1 collaboration

Marjon van Slegtenhorst 1 collaboration

Christian Gilissen 1 collaboration

Michèl A Willemsen 1 collaboration

Bert B A de Vries 1 collaboration

David A Koolen 1 collaboration

Anna Marcé-Grau 1 collaboration

Xabier Elorza-Vidal 1 collaboration

Carla Pérez-Rius 1 collaboration

Anna Ruiz-Nel Lo 1 collaboration

Júlia Sala-Coromina 1 collaboration

Elisabet Gabau 1 collaboration

Raúl Estévez 1 collaboration

Alfons Macaya 1 collaboration

Daniel J Parente 1 collaboration

Stephanie M Morris 1 collaboration

Robert C McKinstry 1 collaboration

Tracy Brandt 1 collaboration

Marwan Shinawi 1 collaboration

Ramon Novell-Alsina 1 collaboration

Asumpta Caixàs 1 collaboration

David Torrents-Rodas 1 collaboration

Lisa Lenaerts 1 collaboration

Sara Reynhout 1 collaboration

Iris Verbinnen 1 collaboration

Frédéric Laumonnier 1 collaboration

Annick Toutain 1 collaboration

Frédérique Bonnet-Brilhault 1 collaboration

Yana Hoorne 1 collaboration

Shelagh Joss 1 collaboration

Anna K Chassevent 1 collaboration

Constance Smith-Hicks 1 collaboration

Bart Loeys 1 collaboration

Pascal Joset 1 collaboration

Katharina Steindl 1 collaboration

Anita Rauch 1 collaboration

Sarju G Mehta 1 collaboration

Wendy K Chung 1 collaboration

Koenraad Devriendt 1 collaboration

Susan E Holder 1 collaboration

Tamison Jewett 1 collaboration

Lauren M Baldwin 1 collaboration

William G Wilson 1 collaboration

Shelley Towner 1 collaboration

Siddharth Srivastava 1 collaboration

Hannah F Johnson 1 collaboration

Cornelia Daumer-Haas 1 collaboration

Martina Baethmann 1 collaboration

Vani Jain 1 collaboration

Vinod Varghese 1 collaboration

Ali Al-Beshri 1 collaboration

Stephen Fulton 1 collaboration

Oded Wechsberg 1 collaboration

Naama Orenstein 1 collaboration

Katrina Prescott 1 collaboration

Anne-Marie Childs 1 collaboration

Laurence Faivre 1 collaboration

Sébastien Moutton 1 collaboration

Jennifer A Sullivan 1 collaboration

Vandana Shashi 1 collaboration

Suzanne M Koudijs 1 collaboration

Malou Heijligers 1 collaboration

Emma Kivuva 1 collaboration

Amy McTague 1 collaboration

Alison Male 1 collaboration

Yvette van Ierland 1 collaboration

Barbara Plecko 1 collaboration

Isabelle Maystadt 1 collaboration

Rizwan Hamid 1 collaboration

Vickie L Hannig 1 collaboration

Gunnar Houge 1 collaboration

Veerle Janssens 1 collaboration

Ariadna Ramirez 1 collaboration

Maria Jesus García-Catalan 1 collaboration

Julián Nevado 1 collaboration

Sixto García-Miñaúr 1 collaboration

María Palomares-Bralo 1 collaboration

Elena Vallespín 1 collaboration

Encarna Guillén-Navarro 1 collaboration

Jordi Rosell 1 collaboration

Cristina Bel-Fenellós 1 collaboration

María Ángeles Mori 1 collaboration

Montserrat Milá 1 collaboration

Miguel Del Campo 1 collaboration

Pilar Barrúz 1 collaboration

Fernando Santos-Simarro 1 collaboration

Gabriela Obregón 1 collaboration

Carmen Orellana 1 collaboration

Harry Pachajoa 1 collaboration

Jair Antonio Tenorio 1 collaboration

Enrique Galán 1 collaboration

Juan C Cigudosa 1 collaboration

Angélica Moresco 1 collaboration

César Saleme 1 collaboration

Silvia Castillo 1 collaboration

Luis Pérez-Jurado 1 collaboration

Ana Barcia 1 collaboration

Maria Soledad Martín 1 collaboration

Elena Mansilla 1 collaboration

Isabel Vallcorba 1 collaboration

Pedro García-Murillo 1 collaboration

Franco Cammarata-Scalisi 1 collaboration

Natálya Gonçalves Pereira 1 collaboration

Raquel Blanco-Lago 1 collaboration

Mercedes Serrano 1 collaboration

Juan Dario Ortigoza-Escobar 1 collaboration

Verónica Adriana Seidel 1 collaboration

Pilar Tirado 1 collaboration

Pablo Lapunzina 1 collaboration

Federico Tessadori 1 collaboration

Karen Duran 1 collaboration

Karen Knapp 1 collaboration

Matthias Fellner 1 collaboration

Sarah Smithson 1 collaboration

Ana Beleza Meireles 1 collaboration

Mariet W Elting 1 collaboration

Quinten Waisfisz 1 collaboration

Anne O'Donnell-Luria 1 collaboration

Catherine Nowak 1 collaboration

Jessica Douglas 1 collaboration

Anne Ronan 1 collaboration

Theresa Brunet 1 collaboration

Urania Kotzaeridou 1 collaboration

Shayna Svihovec 1 collaboration

Margarita S Saenz 1 collaboration

Isabelle Thiffault 1 collaboration

Florencia Del Viso 1 collaboration

Patrick Devine 1 collaboration

Shannon Rego 1 collaboration

Jessica Tenney 1 collaboration

Arie van Haeringen 1 collaboration

Claudia A L Ruivenkamp 1 collaboration

Saskia Koene 1 collaboration

Stephen P Robertson 1 collaboration

Charulata Deshpande 1 collaboration

Nienke Verbeek 1 collaboration

Jiddeke M van de Kamp 1 collaboration

Janneke M M Weiss 1 collaboration

Ehud Banne 1 collaboration

Alexander Pepler 1 collaboration

Armand Bottani 1 collaboration

Sacha Laurent 1 collaboration

Michel Guipponi 1 collaboration

Emilia Bijlsma 1 collaboration

Ange-Line Bruel 1 collaboration

Mary Willis 1 collaboration

Thomas Smol 1 collaboration

Diana Baralle 1 collaboration

Estelle Colin 1 collaboration

Eduardo Calpena 1 collaboration

Andrew O M Wilkie 1 collaboration

Maya Chopra 1 collaboration

Valerie Cormier-Daire 1 collaboration

Marcello Niceta 1 collaboration

Alessandra Terracciano 1 collaboration

Nicola Specchio 1 collaboration

Marco Tartaglia 1 collaboration

Marlene Rio 1 collaboration

Giulia Barcia 1 collaboration

Sophie Rondeau 1 collaboration

Cindy Colson 1 collaboration

Jeroen Bakkers 1 collaboration

Peter D Mace 1 collaboration

Louise S Bicknell 1 collaboration

Gijs van Haaften 1 collaboration

David Monk 1 collaboration

Mario F Fraga 1 collaboration

Agustín F Fernández 1 collaboration

Juan Pablo Trujillo 1 collaboration

Laura Blanco-Hinojo 1 collaboration

Gerard Martínez-Vilavella 1 collaboration

Laia Casamitjana 1 collaboration

Ramón Novell 1 collaboration

Assumpta Caixàs 1 collaboration

Ariadna Ramirez-Mallafré 1 collaboration

Carme Brun-Gasca 1 collaboration

Jana Dominguez-Carral 1 collaboration

Natàlia Padilla 1 collaboration

Xavier de la Cruz 1 collaboration

Audrey Schalk 1 collaboration

Margot A Cousin 1 collaboration

Nikita R Dsouza 1 collaboration

Thomas D Challman 1 collaboration

Karen E Wain 1 collaboration

Kelly Minks 1 collaboration

Chloé Angelini 1 collaboration

Vincent Michaud 1 collaboration

Julien Van-Gils 1 collaboration

Elizabeth Gabau 1 collaboration

Elliot Stolerman 1 collaboration

Camerun Washington 1 collaboration

Ray Louie 1 collaboration

Brendan C Lanpher 1 collaboration

Jennifer L Kemppainen 1 collaboration

Micheil Innes 1 collaboration

Frank Kooy 1 collaboration

Marije Meuwissen 1 collaboration

Alice Goldenberg 1 collaboration

Francois Lecoquierre 1 collaboration

Gabriella Vera 1 collaboration

Karin E M Diderich 1 collaboration

Beth Sheidley 1 collaboration

Christelle Moufawad El Achkar 1 collaboration

Meredith Park 1 collaboration

Ann J Lewis 1 collaboration

Matias Wagner 1 collaboration

Heike Weigand 1 collaboration

Hubert Journel 1 collaboration

Sandrine Passemard 1 collaboration

Cyril Mignot 1 collaboration

Koen van Gassen 1 collaboration

Eva H Brilstra 1 collaboration

Gina Itzikowitz 1 collaboration

Emily O'Heir 1 collaboration

Jake Allen 1 collaboration

Kirsten A Donald 1 collaboration

Bruce Richard Korf 1 collaboration

Tammi Skelton 1 collaboration

Michelle Thompson 1 collaboration

Nathaniel H Robin 1 collaboration

Natasha L Rudy 1 collaboration

William B Dobyns 1 collaboration

Kimberly Foss 1 collaboration

Yuri Alexander Zarate 1 collaboration

Katherine A Bosanko 1 collaboration

Yves Alembik 1 collaboration

Benjamin Durand 1 collaboration

Emmanuelle Ranza 1 collaboration

Xavier Blanc 1 collaboration

Stylianos E Antonarakis 1 collaboration

Erin Torti 1 collaboration

Francisca Millan 1 collaboration

Amy Dameron 1 collaboration

Mari Tokita 1 collaboration

Michael T Zimmermann 1 collaboration

Eric W Klee 1 collaboration

Amelie Piton 1 collaboration

Benedicte Gerard 1 collaboration

Anne Schänzer 1 collaboration

Melanie T Achleitner 1 collaboration

Dietrich Trümbach 1 collaboration

Laurence Hubert 1 collaboration

Arnold Munnich 1 collaboration

Barbara Ahlemeyer 1 collaboration

Maha M AlAbdulrahim 1 collaboration

Philipp A Greif 1 collaboration

Sebastian Vosberg 1 collaboration

Blake Hummer 1 collaboration

René G Feichtinger 1 collaboration

Johannes A Mayr 1 collaboration

Saskia B Wortmann 1 collaboration

Heidi Aichner 1 collaboration

Sabine Rudnik-Schöneborn 1 collaboration

Jacobo Pérez Sánchez 1 collaboration

Sian Ellard 1 collaboration

Tessa Homfray 1 collaboration

Karen L Stals 1 collaboration

Wolfgang Wurst 1 collaboration

Bernd A Neubauer 1 collaboration

Till Acker 1 collaboration

Stefan K Bohlander 1 collaboration

Cédric Asensio 1 collaboration

Claude Besmond 1 collaboration

Fowzan S Alkuraya 1 collaboration

Moenaldeen D AlSayed 1 collaboration

Andreas Hahn 1 collaboration

Axel Weber 1 collaboration

Amy L Schneider 1 collaboration

Candace T Myers 1 collaboration

Alison M Muir 1 collaboration

Sophie Calvert 1 collaboration

Alice Basinger 1 collaboration

M Scott Perry 1 collaboration

Lance Rodan 1 collaboration

Katherine L Helbig 1 collaboration

Chelsea Chambers 1 collaboration

Kathleen M Gorman 1 collaboration

Mary D King 1 collaboration

Sandra Donkervoort 1 collaboration

Ariane Soldatos 1 collaboration

Carsten G Bönnemann 1 collaboration

Montserrat Arellano 1 collaboration

Gerarda Cappuccio 1 collaboration

Nicola Brunetti-Pierri 1 collaboration

Elsa Rossignol 1 collaboration

Christopher Balak 1 collaboration

Heather C Mefford 1 collaboration

Ingrid E Scheffer 1 collaboration

Carla Tubau 1 collaboration

Laura Calvo 1 collaboration

Helena Larramona 1 collaboration

Lisenka E L M Vissers 1 collaboration

Sreehari Kalvakuri 1 collaboration

Elke de Boer 1 collaboration

Sinje Geuer 1 collaboration

Machteld Oud 1 collaboration

Inge van Outersterp 1 collaboration

Michael Kwint 1 collaboration

Melde Witmond 1 collaboration

Simone Kersten 1 collaboration

Daniel L Polla 1 collaboration

Dilys Weijers 1 collaboration

Amber Begtrup 1 collaboration

Jenny E V Morton 1 collaboration

Christopher Griffith 1 collaboration

Karin Weiss 1 collaboration

Candace Gamble 1 collaboration

James Bartley 1 collaboration

Hilary J Vernon 1 collaboration

Kendra Brunet 1 collaboration

Claudia Ruivenkamp 1 collaboration

Sarina G Kant 1 collaboration

Paul Kruszka 1 collaboration

Austin Larson 1 collaboration

Thierry Billette de Villemeur 1 collaboration

Kimberly Nugent 1 collaboration

F Lucy Raymond 1 collaboration

Florence Demurger 1 collaboration

Claudia Soler-Alfonso 1 collaboration

Dong Li 1 collaboration

Elizabeth Bhoj 1 collaboration

Ian Hayes 1 collaboration

Nina Powell Hamilton 1 collaboration

Ayesha Ahmad 1 collaboration

Rachel Fisher 1 collaboration

Myrthe van den Born 1 collaboration

Marjolaine Willems 1 collaboration

Julian Delanne 1 collaboration

Sebastien Moutton 1 collaboration

Philippe Christophe 1 collaboration

Antonio Vitobello 1 collaboration

Himanshu Goel 1 collaboration

Lauren Massingham 1 collaboration

Chanika Phornphutkul 1 collaboration

Jennifer Schwab 1 collaboration

Perrine Charles 1 collaboration

Maaike Vreeburg 1 collaboration

Lenika De Simone 1 collaboration

George Hoganson 1 collaboration

Maria Iascone 1 collaboration

Donatella Milani 1 collaboration

Lucie Evenepoel 1 collaboration

D Isum Ward 1 collaboration

Kaitlyn Burns 1 collaboration

Ian Krantz 1 collaboration

Sarah E Raible 1 collaboration

Jill R Murrell 1 collaboration

Kathleen Wood 1 collaboration

Megan T Cho 1 collaboration

Hans van Bokhoven 1 collaboration

Maximilian Muenke 1 collaboration

Tjitske Kleefstra 1 collaboration

Rolf Bodmer 1 collaboration

Stefan Hümmer 1 collaboration

Marc Masanas 1 collaboration

A Arockia Jeyaprakash 1 collaboration

Miguel F Segura 1 collaboration

Anna Santamaria 1 collaboration

Juan Pablo Trujillo-Quintero 1 collaboration

Carmen Manso 1 collaboration

Victor Martinez-Glez 1 collaboration

Antoni Berenguer-Llergo 1 collaboration

Sara Reyes 1 collaboration

Anna Brunet 1 collaboration

Affiliations

Publications (19)

Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability.

De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy.

Muscarinic acetylcholine receptor M1 mutations causing neurodevelopmental disorder and epilepsy.

Sorting nexin 27 (SNX27) variants associated with seizures, developmental delay, behavioral disturbance, and subcortical brain abnormalities.

Compulsions in Prader-Willi syndrome: occurrence and severity as a function of genetic subtype.

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.

Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndrome.

Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.

Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome.

Lack of response to disgusting food in the hypothalamus and related structures in Prader Willi syndrome.

New genes involved in Angelman syndrome-like: Expanding the genetic spectrum.

Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.

FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.

Safety and effectiveness of growth hormone therapy in infants with Prader-Willi syndrome younger than 2 years: a prospective study.

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

The Novel KIF1A Missense Variant (R169T) Strongly Reduces Microtubule Stimulated ATPase Activity and Is Associated With NESCAV Syndrome.

High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.

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