Eduardo Calpena

Andrew O M Wilkie 16 collaborations

Stephen R F Twigg 11 collaborations

None None 8 collaborations

Simon J McGowan 7 collaborations

Sigrid M A Swagemakers 5 collaborations

Irene M J Mathijssen 5 collaborations

Rebecca S Tooze 5 collaborations

Astrid Weber 5 collaborations

Louise C Wilson 5 collaborations

Jenny E V Morton 5 collaborations

David Johnson 5 collaborations

Nils Koelling 4 collaborations

Steven A Wall 4 collaborations

Alistair T Pagnamenta 3 collaborations

Tracy Lester 3 collaborations

Jenny C Taylor 3 collaborations

Kerry A Miller 3 collaborations

Andrew T Timberlake 3 collaborations

Julie M Phipps 3 collaborations

Michael L Cunningham 3 collaborations

Freya Boardman-Pretty 3 collaborations

Boris Keren 2 collaborations

Nicola Foulds 2 collaborations

Olivier Pichon 2 collaborations

Bertrand Isidor 2 collaborations

Jacqueline A C Goos 2 collaborations

Hana Mlcochova 2 collaborations

Peter J van der Spek 2 collaborations

Carme Camps 2 collaborations

Mona Hashim 2 collaborations

Jing Yu 2 collaborations

Ron Schwessinger 2 collaborations

Siddharth Banka 2 collaborations

Deirdre Cilliers 2 collaborations

Reza Maroofian 2 collaborations

Holm H Uhlig 2 collaborations

Nicolas Chatron 2 collaborations

Kristin G Monaghan 2 collaborations

Aida Telegrafi 2 collaborations

Helen Brittain 2 collaborations

Araceli Cuellar 2 collaborations

Krithi Bala 2 collaborations

Meena Balasubramanian 2 collaborations

Sofia Douzgou 2 collaborations

Wanda Lattanzi 2 collaborations

Deborah Shears 2 collaborations

Helen Lord 2 collaborations

Simeon A Boyadjiev 2 collaborations

Ruth McGowan 2 collaborations

Sarah Smithson 2 collaborations

Rolph Pfundt 2 collaborations

Ange-Line Bruel 2 collaborations

Arthur Sorlin 2 collaborations

Diana Baralle 2 collaborations

Helen Stewart 2 collaborations

Dara Tolchin 1 collaboration

Jessica P Yeager 1 collaboration

Priya Prasad 1 collaboration

Naghmeh Dorrani 1 collaboration

Alvaro Serrano Russi 1 collaboration

Julian A Martinez-Agosto 1 collaboration

Abdul Haseeb 1 collaboration

Marco Angelozzi 1 collaboration

G W E Santen 1 collaboration

Claudia Ruivenkamp 1 collaboration

Saadet Mercimek-Andrews 1 collaboration

Christel Depienne 1 collaboration

Alma Kuechler 1 collaboration

Barbara Mikat 1 collaboration

Hermann-Josef Ludecke 1 collaboration

Frederic Bilan 1 collaboration

Gwenael Le Guyader 1 collaboration

Brigitte Gilbert-Dussardier 1 collaboration

Solveig Heide 1 collaboration

Damien Haye 1 collaboration

Hilde Van Esch 1 collaboration

Liesbeth Keldermans 1 collaboration

Damara Ortiz 1 collaboration

Emily Lancaster 1 collaboration

Ian D Krantz 1 collaboration

Bryan L Krock 1 collaboration

Kieran B Pechter 1 collaboration

Alexandre Arkader 1 collaboration

Livija Medne 1 collaboration

Elizabeth T DeChene 1 collaboration

Giada Melistaccio 1 collaboration

Mohnish Suri 1 collaboration

Amber Begtrup 1 collaboration

Lindsay B Henderson 1 collaboration

Cara Forster 1 collaboration

Patrick Reed 1 collaboration

Marie T McDonald 1 collaboration

Allyn McConkie-Rosell 1 collaboration

Julien Thevenon 1 collaboration

Pauline Le Tanno 1 collaboration

Charles Coutton 1 collaboration

Anne C H Tsai 1 collaboration

Sarah Stewart 1 collaboration

Ales Maver 1 collaboration

Rudolf Gorazd 1 collaboration

Mathilde Nizon 1 collaboration

Benjamin Cogné 1 collaboration

Dominique Martin-Coignard 1 collaboration

Radka Stoeva 1 collaboration

Véronique Lefebvre 1 collaboration

Cédric Le Caignec 1 collaboration

Walter K Vogel 1 collaboration

Christopher J Millard 1 collaboration

Elahe Esfandiari 1 collaboration

Wisam H Selman 1 collaboration

Evan L Carpenter 1 collaboration

Theresa M Filtz 1 collaboration

John W R Schwabe 1 collaboration

Urszula T Iwaniec 1 collaboration

Mark Leid 1 collaboration

Edoardo Giacopuzzi 1 collaboration

John M Taylor 1 collaboration

Pamela J Kaisaki 1 collaboration

Akiko Hashimoto 1 collaboration

Edward Sanders 1 collaboration

Jim R Hughes 1 collaboration

Gerton Lunter 1 collaboration

Helene Dreau 1 collaboration

Matteo Ferla 1 collaboration

Lukas Lange 1 collaboration

Yesim Kesim 1 collaboration

Vassilis Ragoussis 1 collaboration

Dimitrios V Vavoulis 1 collaboration

Holger Allroggen 1 collaboration

Olaf Ansorge 1 collaboration

Christian Babbs 1 collaboration

Benito Baños-Piñero 1 collaboration

David Beeson 1 collaboration

Tal Ben-Ami 1 collaboration

David L Bennett 1 collaboration

Celeste Bento 1 collaboration

Edward Blair 1 collaboration

Charlotte Brasch-Andersen 1 collaboration

Katherine R Bull 1 collaboration

Holger Cario 1 collaboration

Valerio Conti 1 collaboration

E Graham Davies 1 collaboration

Fatima Dhalla 1 collaboration

Beatriz Diez Dacal 1 collaboration

Yin Dong 1 collaboration

James E Dunford 1 collaboration

Renzo Guerrini 1 collaboration

Adrian L Harris 1 collaboration

Jane Hartley 1 collaboration

Georg Hollander 1 collaboration

Kassim Javaid 1 collaboration

Maureen Kane 1 collaboration

Deirdre Kelly 1 collaboration

Dominic Kelly 1 collaboration

Samantha J L Knight 1 collaboration

Alexandra Y Kreins 1 collaboration

Erika M Kvikstad 1 collaboration

Craig B Langman 1 collaboration

Kate E Lines 1 collaboration

Simon R Lord 1 collaboration

Xin Lu 1 collaboration

Sahar Mansour 1 collaboration

Adnan Manzur 1 collaboration

Brian Marsden 1 collaboration

Joanne Mason 1 collaboration

Davide Mei 1 collaboration

Yoshiko Murakami 1 collaboration

Andrea H Németh 1 collaboration

Steven Okoli 1 collaboration

Elizabeth Ormondroyd 1 collaboration

Lilian Bomme Ousager 1 collaboration

Jacqueline Palace 1 collaboration

Smita Y Patel 1 collaboration

Melissa M Pentony 1 collaboration

Chris Pugh 1 collaboration

Aboulfazl Rad 1 collaboration

Archana Ramesh 1 collaboration

Simone G Riva 1 collaboration

Irene Roberts 1 collaboration

Noémi Roy 1 collaboration

Outi Salminen 1 collaboration

Kyleen D Schilling 1 collaboration

Caroline Scott 1 collaboration

Arjune Sen 1 collaboration

Conrad Smith 1 collaboration

Mark Stevenson 1 collaboration

Rajesh V Thakker 1 collaboration

Richard van Wijk 1 collaboration

Barbara Vona 1 collaboration

Steven Wall 1 collaboration

Jing Wang 1 collaboration

Hugh Watkins 1 collaboration

Jaroslav Zak 1 collaboration

Anna H Schuh 1 collaboration

Usha Kini 1 collaboration

Niko Popitsch 1 collaboration

Alireza Navabazam 1 collaboration

Hannah E Roberts 1 collaboration

Maria Lopopolo 1 collaboration

Mohammadreza Dehghani 1 collaboration

Mohammad Yahya Vahidi Mehrjardi 1 collaboration

Alireza Haerian 1 collaboration

Mojtaba Soltanianzadeh 1 collaboration

Mohammad Hadi Noori Kooshki 1 collaboration

Samantha Jl Knight 1 collaboration

Uirá Souto Melo 1 collaboration

Stefan Mundlos 1 collaboration

David Buck 1 collaboration

Stephen Rf Twigg 1 collaboration

Andrew Om Wilkie 1 collaboration

Alexia Hervieu 1 collaboration

Teresa Kaserer 1 collaboration

Olajumoke Popoola 1 collaboration

Maria Jesus Ortiz-Ruiz 1 collaboration

Tina Barbaro-Dieber 1 collaboration

Lucy Bownass 1 collaboration

Eva H Brilstra 1 collaboration

Elise Brimble 1 collaboration

Theresa A Grebe 1 collaboration

Aster V E Harder 1 collaboration

Melissa M Lees 1 collaboration

Ruth A Newbury-Ecob 1 collaboration

Kai-Ren Ong 1 collaboration

Deborah Osio 1 collaboration

Francis Jeshira Reynoso Santos 1 collaboration

Maura R Z Ruzhnikov 1 collaboration

Ellen van Binsbergen 1 collaboration

Marieke F van Dooren 1 collaboration

Julian Blagg 1 collaboration

Paul A Clarke 1 collaboration

Margaret F Lippincott 1 collaboration

Wanxue Xu 1 collaboration

Abigail A Smith 1 collaboration

Xinyu Miao 1 collaboration

Agathe Lafont 1 collaboration

Omar Shennib 1 collaboration

Gordon J Farley 1 collaboration

Riwa Sabbagh 1 collaboration

Angela Delaney 1 collaboration

Maria Stamou 1 collaboration

Lacey Plummer 1 collaboration

Kathryn Salnikov 1 collaboration

Neoklis A Georgopoulos 1 collaboration

Veronica Mericq 1 collaboration

Richard Quinton 1 collaboration

Frederic Tran Mau-Them 1 collaboration

Sophie Nambot 1 collaboration

Asma Hamad 1 collaboration

Marjolaine Willems 1 collaboration

William F Crowley 1 collaboration

Ravikumar Balasubramanian 1 collaboration

Nathalie Lamarche-Vane 1 collaboration

Erica E Davis 1 collaboration

Stephanie B Seminara 1 collaboration

Kevin Cassinari 1 collaboration

Olivier Quenez 1 collaboration

Stéphanie Baert-Desurmont 1 collaboration

Claire Bardel 1 collaboration

Marie-Pierre Buisine 1 collaboration

Yline Capri 1 collaboration

Jordi Corominas Galbany 1 collaboration

Flavie Diguet 1 collaboration

Patrick Edery 1 collaboration

Audrey Labalme 1 collaboration

Cedric Le Caignec 1 collaboration

Jonathan Lévy 1 collaboration

François Lecoquierre 1 collaboration

Pierre Lindenbaum 1 collaboration

Pierre-Antoine Rollat-Farnier 1 collaboration

Thomas Simonet 1 collaboration

Pascale Saugier-Veber 1 collaboration

Anne-Claude Tabet 1 collaboration

Annick Toutain 1 collaboration

Gaetan Lesca 1 collaboration

Damien Sanlaville 1 collaboration

Gaël Nicolas 1 collaboration

Caroline Schluth-Bolard 1 collaboration

Zerin Hyder 1 collaboration

Yang Pei 1 collaboration

Emma McCann 1 collaboration

Andrew G L Douglas 1 collaboration

Anna Need 1 collaboration

Andrew Bond 1 collaboration

Ana Lisa Taylor Tavares 1 collaboration

Ellen R A Thomas 1 collaboration

Susan L Hill 1 collaboration

Zandra C Deans 1 collaboration

Mark Caulfield 1 collaboration

Richard H Scott 1 collaboration

Federico Tessadori 1 collaboration

Karen Duran 1 collaboration

Karen Knapp 1 collaboration

Matthias Fellner 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

Anna Ruiz 1 collaboration

Elisabeth Gabau 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

Mary Willis 1 collaboration

Zoe Powis 1 collaboration

Thomas Smol 1 collaboration

Catherine Vincent-Delorme 1 collaboration

Estelle Colin 1 collaboration

Nicole Revencu 1 collaboration

Maya Chopra 1 collaboration

Valerie Cormier-Daire 1 collaboration

Alexandra Afenjar 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

Marie Bernkopf 1 collaboration

Geoffrey J Maher 1 collaboration

Hannah K Ralph 1 collaboration

Anne Goriely 1 collaboration

Maud Wurmser 1 collaboration

Rodrigo Atique 1 collaboration

Débora R Bertola 1 collaboration

Jonas A Gustafson 1 collaboration

Maria Rita Passos-Bueno 1 collaboration

Richard P Lifton 1 collaboration

Pascal Maire 1 collaboration

Geeske M van Woerden 1 collaboration

Melanie Bos 1 collaboration

Charlotte de Konink 1 collaboration

Ben Distel 1 collaboration

Rossella Avagliano Trezza 1 collaboration

Natasha E Shur 1 collaboration

Kristin Barañano 1 collaboration

Sonal Mahida 1 collaboration

Anna Chassevent 1 collaboration

Allison Schreiber 1 collaboration

Angelika L Erwin 1 collaboration

Karen W Gripp 1 collaboration

Fatima Rehman 1 collaboration

Saskia Brulleman 1 collaboration

Róisín McCormack 1 collaboration

Gwynna de Geus 1 collaboration

Louisa Kalsner 1 collaboration

David A Koolen 1 collaboration

Melissa K Gabriel 1 collaboration

Mari Rossi 1 collaboration

David R Fitzpatrick 1 collaboration

Alice Brooks 1 collaboration

Marjon van Slegtenhorst 1 collaboration

Julie Fleischer 1 collaboration

Daniel Groepper 1 collaboration

Kristin Lindstrom 1 collaboration

A Micheil Innes 1 collaboration

Allison Goodwin 1 collaboration

Jennifer Humberson 1 collaboration

Amanda Noyes 1 collaboration

Katherine G Langley 1 collaboration

Amy Blevins 1 collaboration

Jessica Hoffman 1 collaboration

Maria J Guillen Sacoto 1 collaboration

Jane Juusola 1 collaboration

Sumit Punj 1 collaboration

Marleen Simon 1 collaboration

Ype Elgersma 1 collaboration

Tjitske Kleefstra 1 collaboration

Felice D'Arco 1 collaboration

Emma L Wakeling 1 collaboration

Fiona Blanco Kelly 1 collaboration

Elise Boudry-Labis 1 collaboration

Anne Dieux-Coeslier 1 collaboration

Rachel Harrison 1 collaboration

Diana Johnson 1 collaboration

Katherine Lachlan 1 collaboration

Pradeep Vasudevan 1 collaboration

Susan Walker 1 collaboration

Alexandra J Noble 1 collaboration

Jenny Lord 1 collaboration

Prasun Dutta 1 collaboration

Hannah Green 1 collaboration

Smrithi Devaiah 1 collaboration

Lina Nashef 1 collaboration

Jason Parr 1 collaboration

Carl Fratter 1 collaboration

Rana Ibnouf Hussein 1 collaboration

Sarah J Lindsay 1 collaboration

Fiona Lalloo 1 collaboration

Benito Banos-Pinero 1 collaboration

David Evans 1 collaboration

Lucy Mallin 1 collaboration

Adrian Waite 1 collaboration

Julie Evans 1 collaboration

Andrew Newman 1 collaboration

Zoe Allen 1 collaboration

Cristina Perez-Becerril 1 collaboration

Gavin Ryan 1 collaboration

Rachel Hart 1 collaboration

John Taylor 1 collaboration

Tina Bedenham 1 collaboration

Emma Clement 1 collaboration

Ed Blair 1 collaboration

Eleanor Hay 1 collaboration

Francesca Forzano 1 collaboration

Jenny Higgs 1 collaboration

Natalie Canham 1 collaboration

Anirban Majumdar 1 collaboration

Meriel McEntagart 1 collaboration

Nayana Lahiri 1 collaboration

Adam Jackson 1 collaboration

Hannah Titheradge 1 collaboration

Julia Rankin 1 collaboration

Charles Shaw-Smith 1 collaboration

D Gareth Evans 1 collaboration

George J Burghel 1 collaboration

Miriam J Smith 1 collaboration

Emily Anderson 1 collaboration

Rajesh Madhu 1 collaboration

Helen Firth 1 collaboration

Sian Ellard 1 collaboration

Paul Brennan 1 collaboration

Claire Anderson 1 collaboration

Doug Taupin 1 collaboration

Mark T Rogers 1 collaboration

Jackie A Cook 1 collaboration

Miranda Durkie 1 collaboration

James E East 1 collaboration

Darren Fowler 1 collaboration

Louise Wilson 1 collaboration

Rebecca Igbokwe 1 collaboration

Alice Gardham 1 collaboration

Ian Tomlinson 1 collaboration

Odile Boute 1 collaboration

Corinne Collet 1 collaboration

Fanny Laffargue 1 collaboration

Nicole de Leeuw 1 collaboration

Jenny V Morton 1 collaboration

Peter Noons 1 collaboration

Charlotte W Ockeloen 1 collaboration

Tiong Yang Tan 1 collaboration

Clemence Vanlerberghe 1 collaboration

Elaine H Zackai 1 collaboration

Affiliations

Publications (19)

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis.

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.

Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels.

Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus.

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.

The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay.

Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis.

Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.

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

amplimap: a versatile tool to process and analyze targeted NGS data.

Unexpected role of

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.

Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of

Dissection of contiguous gene effects for deletions around ERF on chromosome 19.

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.

Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.

Réseau de co-auteurs