Emma Wakeling

None None 8 collaborations

Sally Ann Lynch 3 collaborations

Boris Keren 3 collaborations

Erin Wakeling 3 collaborations

Angela Barnicoat 2 collaborations

Allan Bayat 2 collaborations

Anna de Burca 2 collaborations

Melissa Lees 2 collaborations

Juliette Piard 2 collaborations

Anne De Paepe 2 collaborations

Bert Callewaert 2 collaborations

Cyril Mignot 2 collaborations

Christiane Zweier 2 collaborations

Gaetan Lesca 2 collaborations

Soo-Mi Park 2 collaborations

Ange-Line Bruel 2 collaborations

Laurence Faivre 2 collaborations

Christel Thauvin-Robinet 2 collaborations

Karen Stals 2 collaborations

Süreyya Savaşan 2 collaborations

Steven Buck 2 collaborations

Sian Ellard 2 collaborations

Dana Marafi 2 collaborations

Isabelle Thiffault 2 collaborations

Jennifer E Posey 2 collaborations

James R Lupski 2 collaborations

Ilse Meerschaut 1 collaboration

Shana De Coninck 1 collaboration

Wouter Steyaert 1 collaboration

Francesco Benedicenti 1 collaboration

Siren Berland 1 collaboration

Edward M Blair 1 collaboration

Jeroen Breckpot 1 collaboration

Anne Destrée 1 collaboration

Sixto García-Miñaúr 1 collaboration

Andrew J Green 1 collaboration

Bernadette C Hanna 1 collaboration

Kathelijn Keymolen 1 collaboration

Marije Koopmans 1 collaboration

Damien Lederer 1 collaboration

Cheryl Longman 1 collaboration

Alison M Male 1 collaboration

Fiona McKenzie 1 collaboration

Isabelle Migeotte 1 collaboration

Ercan Mihci 1 collaboration

Banu Nur 1 collaboration

Florence Petit 1 collaboration

Frank S Plasschaert 1 collaboration

Anita Rauch 1 collaboration

Pascale Ribaï 1 collaboration

Iratxe Salcedo Pacheco 1 collaboration

Franco Stanzial 1 collaboration

Irene Stolte-Dijkstra 1 collaboration

Irene Valenzuela 1 collaboration

Vinod Varghese 1 collaboration

Pradeep C Vasudevan 1 collaboration

Carina Wallgren-Pettersson 1 collaboration

Paul Coucke 1 collaboration

Daniël De Wolf 1 collaboration

Sofie Symoens 1 collaboration

Berardo Rinaldi 1 collaboration

Linda G Zachariassen 1 collaboration

Jia-Hui Sun 1 collaboration

Yu-Han Ge 1 collaboration

Dan Zhao 1 collaboration

Kristine Bonde 1 collaboration

Laura H Madsen 1 collaboration

Ilham Abdimunim Ali Awad 1 collaboration

Duygu Bagiran 1 collaboration

Amal Sbeih 1 collaboration

Syeda Maidah Shah 1 collaboration

Shaymaa El-Sayed 1 collaboration

Signe M Lyngby 1 collaboration

Miriam G Pedersen 1 collaboration

Charlotte Stenum-Berg 1 collaboration

Louise Claudia Walker 1 collaboration

Ilona Krey 1 collaboration

Andrée Delahaye-Duriez 1 collaboration

Lisa T Emrick 1 collaboration

Krystal Sully 1 collaboration

Chaya N Murali 1 collaboration

Lindsay C Burrage 1 collaboration

Julie Ana Plaud Gonzalez 1 collaboration

Mered Parnes 1 collaboration

Jennifer Friedman 1 collaboration

Bertrand Isidor 1 collaboration

Jérémie Lefranc 1 collaboration

Sylvia Redon 1 collaboration

Delphine Heron 1 collaboration

Mélanie Fradin 1 collaboration

Christele Dubourg 1 collaboration

Sandra Mercier 1 collaboration

Thomas Besnard 1 collaboration

Benjamin Cogne 1 collaboration

Wallid Deb 1 collaboration

Clotilde Rivier 1 collaboration

Donatella Milani 1 collaboration

Maria Francesca Bedeschi 1 collaboration

Claudia Di Napoli 1 collaboration

Federico Grilli 1 collaboration

Paola Marchisio 1 collaboration

Suzanna Koudijs 1 collaboration

Danielle Veenma 1 collaboration

Emanuela Argilli 1 collaboration

Ping Yee Billie Au 1 collaboration

Fernando Eduardo Ayala Valenzuela 1 collaboration

Carolyn Brown 1 collaboration

Diane Masser-Frye 1 collaboration

Marilyn Jones 1 collaboration

Leslie Patron Romero 1 collaboration

Wenhui Laura Li 1 collaboration

Erin Thorpe 1 collaboration

Laura Hecher 1 collaboration

Jessika Johannsen 1 collaboration

Jonas Denecke 1 collaboration

Vanda McNiven 1 collaboration

Anna Szuto 1 collaboration

Vincent Cruz 1 collaboration

Valerie Sency 1 collaboration

Heng Wang 1 collaboration

Fanny Kortüm 1 collaboration

Theresia Herget 1 collaboration

Tatjana Bierhals 1 collaboration

Angelo Condell 1 collaboration

Bruria Ben Zeev 1 collaboration

Simranpreet Kaur 1 collaboration

John Christodoulou 1 collaboration

Amelie Piton 1 collaboration

Cornelia Kraus 1 collaboration

Alessia Micalizzi 1 collaboration

Marina Trivisano 1 collaboration

Nicola Specchio 1 collaboration

Rikke S Møller 1 collaboration

Zeynep Tümer 1 collaboration

Maria Musgaard 1 collaboration

Benedicte Gerard 1 collaboration

Johannes R Lemke 1 collaboration

Yun Stone Shi 1 collaboration

Anders S Kristensen 1 collaboration

Gabrielle Olley 1 collaboration

Morad Ansari 1 collaboration

Hemant Bengani 1 collaboration

Graeme R Grimes 1 collaboration

James Rhodes 1 collaboration

Alex von Kriegsheim 1 collaboration

Ana Blatnik 1 collaboration

Fiona J Stewart 1 collaboration

Nicola Carroll 1 collaboration

Alison Ross 1 collaboration

Wendy A Bickmore 1 collaboration

Madapura M Pradeepa 1 collaboration

David R FitzPatrick 1 collaboration

Reem Al-Jawahiri 1 collaboration

Aidin Foroutan 1 collaboration

Jennifer Kerkhof 1 collaboration

Haley McConkey 1 collaboration

Michael Levy 1 collaboration

Sadegheh Haghshenas 1 collaboration

Kathleen Rooney 1 collaboration

Jasmin Turner 1 collaboration

Debbie Shears 1 collaboration

Muriel Holder 1 collaboration

Henrietta Lefroy 1 collaboration

Bruce Castle 1 collaboration

Linda M Reis 1 collaboration

Elena V Semina 1 collaboration

Katherine Lachlan 1 collaboration

Kate Chandler 1 collaboration

Thomas Wright 1 collaboration

Jill Clayton-Smith 1 collaboration

Franziska Phan Hug 1 collaboration

Nelly Pitteloud 1 collaboration

Lucia Bartoloni 1 collaboration

Sabine Hoffjan 1 collaboration

Ajay Thankamony 1 collaboration

Swati Naik 1 collaboration

Britta Hanker 1 collaboration

Katta M Girisha 1 collaboration

Emanuele Agolini 1 collaboration

Zampino Giuseppe 1 collaboration

Ziegler Alban 1 collaboration

Marine Tessarech 1 collaboration

Alexandra Afenjar 1 collaboration

Andre Reis 1 collaboration

Thomas Smol 1 collaboration

Yoshinori Tsurusaki 1 collaboration

Okamoto Nobuhiko 1 collaboration

Futoshi Sekiguchi 1 collaboration

Naomi Tsuchida 1 collaboration

Naomichi Matsumoto 1 collaboration

Ikuyo Kou 1 collaboration

Yoshiro Yonezawa 1 collaboration

Shiro Ikegawa 1 collaboration

Megan Freeth 1 collaboration

Lotte Kleinendorst 1 collaboration

Alan Donaldson 1 collaboration

Marielle Alders 1 collaboration

Bekim Sadikovic 1 collaboration

Alisdair McNeill 1 collaboration

Marlène Malbos 1 collaboration

Thierry Gautier 1 collaboration

Odile Boespflug-Tanguy 1 collaboration

Louise Busby 1 collaboration

Tashunka Taylor-Miller 1 collaboration

Benjamin Dudoignon 1 collaboration

Plamen Bokov 1 collaboration

Jérôme Govin 1 collaboration

Margot Grisval 1 collaboration

Adélaïde Rega 1 collaboration

Marie-Gabrielle Mourot De Rougemont 1 collaboration

Marie-Hélène Aubriot-Lorton 1 collaboration

Véronique Darmency 1 collaboration

Candace Bensignor 1 collaboration

Anne Houzel 1 collaboration

Frédéric Huet 1 collaboration

Anne-Sophie Denommé-Pichon 1 collaboration

Julian Delanne 1 collaboration

Frédéric Tran Mau-Them 1 collaboration

Hana Safraou 1 collaboration

Sophie Nambot 1 collaboration

Aurore Garde 1 collaboration

Christophe Philippe 1 collaboration

Yannis Duffourd 1 collaboration

Antonio Vitobello 1 collaboration

Wenqian Chen 1 collaboration

Preeya Rehsi 1 collaboration

Kyle Thompson 1 collaboration

Mildrid Yeo 1 collaboration

Langping He 1 collaboration

Paul Schimmel 1 collaboration

Zofia M A Chrzanowska-Lightowlers 1 collaboration

Robert W Taylor 1 collaboration

Bernhard Kuhle 1 collaboration

Neha Malhotra 1 collaboration

Thia Hanania 1 collaboration

Daphne Yau 1 collaboration

Clare Gilbert 1 collaboration

Kate Morgan 1 collaboration

Wendy D Jones 1 collaboration

Martin Samuels 1 collaboration

Indraneel Banerjee 1 collaboration

Antonia Dastamani 1 collaboration

Batool Al-Qanber 1 collaboration

Manisha Gadgeel 1 collaboration

Meriel McEntagart 1 collaboration

Michael Bruccoleri 1 collaboration

Charles Shaw-Smith 1 collaboration

Karen L Stals 1 collaboration

Matthew Wakeling 1 collaboration

Clare Beesley 1 collaboration

Andrea K Hanson-Kahn 1 collaboration

Mary Kukolich 1 collaboration

David A Stevenson 1 collaboration

Philippe M Campeau 1 collaboration

Sarah H Elsea 1 collaboration

Xiang-Jiao Yang 1 collaboration

Richard C Caswell 1 collaboration

Yanick J Crow 1 collaboration

Heather Marshall 1 collaboration

Gillian I Rice 1 collaboration

Luis Seabra 1 collaboration

Emma M Jenkinson 1 collaboration

Kristin Baranano 1 collaboration

Roberta Battini 1 collaboration

Andrea Berger 1 collaboration

Edward Blair 1 collaboration

Thomas Blauwblomme 1 collaboration

Francois Bolduc 1 collaboration

Natalie Boddaert 1 collaboration

Johannes Buckard 1 collaboration

Heather Burnett 1 collaboration

Sophie Calvert 1 collaboration

Roseline Caumes 1 collaboration

Andy Cheuk-Him Ng 1 collaboration

Diana Chiang 1 collaboration

David B Clifford 1 collaboration

Duccio M Cordelli 1 collaboration

Natasha Demic 1 collaboration

Isabelle Desguerre 1 collaboration

Liesbeth De Waele 1 collaboration

Alessio Di Fonzo 1 collaboration

S Richard Dunham 1 collaboration

Sarah Dyack 1 collaboration

Frances Elmslie 1 collaboration

Mickaël Ferrand 1 collaboration

Gemma Fisher 1 collaboration

Ehsan Ghayoor Karimiani 1 collaboration

Jamal Ghoumid 1 collaboration

Frances Gibbon 1 collaboration

Himanshu Goel 1 collaboration

Hilde T Hilmarsen 1 collaboration

Imelda Hughes 1 collaboration

Anu Jacob 1 collaboration

Elizabeth A Jones 1 collaboration

Ram Kumar 1 collaboration

Richard J Leventer 1 collaboration

Shelley MacDonald 1 collaboration

Reza Maroofian 1 collaboration

Sarju G Mehta 1 collaboration

Imke Metz 1 collaboration

Edoardo Monfrini 1 collaboration

Daniela Neumann 1 collaboration

Michael Noetzel 1 collaboration

Mary O'Driscoll 1 collaboration

Katrin Õunap 1 collaboration

Axel Panzer 1 collaboration

Sumit Parikh 1 collaboration

Prab Prabhakar 1 collaboration

Francis Ramond 1 collaboration

Richard Sandford 1 collaboration

Russell Saneto 1 collaboration

Calvin Soh 1 collaboration

Chloe A Stutterd 1 collaboration

Gopinath M Subramanian 1 collaboration

Kevin Talbot 1 collaboration

Rhys H Thomas 1 collaboration

Camilo Toro 1 collaboration

Renaud Touraine 1 collaboration

Evangeline Wassmer 1 collaboration

Andrea Whitney 1 collaboration

John H Livingston 1 collaboration

Raymond T O'Keefe 1 collaboration

Andrew P Badrock 1 collaboration

Saraswathy Sabanathan 1 collaboration

Deepti Gulhane 1 collaboration

Kshitij Mankad 1 collaboration

James Davison 1 collaboration

Min Tsui Ong 1 collaboration

Rahul Phadke 1 collaboration

Robert Robinson 1 collaboration

Michael Spiller 1 collaboration

Sithara Ramdas 1 collaboration

Angela F Brady 1 collaboration

Meena Balasubramanian 1 collaboration

Pinki Munot 1 collaboration

Fatima Alabdulrazzaq 1 collaboration

Talal Alanzi 1 collaboration

Haya H Al-Balool 1 collaboration

Alice Gardham 1 collaboration

Harry G Leitch 1 collaboration

Moeenaldeen AlSayed 1 collaboration

Maha Abdulrahim 1 collaboration

Abdulaziz Aladwani 1 collaboration

Antonio Romito 1 collaboration

Kapil Kampe 1 collaboration

Sacha Ferdinandusse 1 collaboration

Ashraf H Aboelanine 1 collaboration

Amira Abdullah 1 collaboration

Amal Alwadani 1 collaboration

Laila Bastaki 1 collaboration

Frédéric M Vaz 1 collaboration

Aida M Bertoli-Avella 1 collaboration

Daniel G Calame 1 collaboration

Tianyu Guo 1 collaboration

Chen Wang 1 collaboration

Lillian Garrett 1 collaboration

Angad Jolly 1 collaboration

Moez Dawood 1 collaboration

Alina Kurolap 1 collaboration

Noa Zunz Henig 1 collaboration

Jawid M Fatih 1 collaboration

Isabella Herman 1 collaboration

Haowei Du 1 collaboration

Tadahiro Mitani 1 collaboration

Lore Becker 1 collaboration

Birgit Rathkolb 1 collaboration

Raffaele Gerlini 1 collaboration

Claudia Seisenberger 1 collaboration

Susan Marschall 1 collaboration

Jill V Hunter 1 collaboration

Amanda Gerard 1 collaboration

Alexis Heidlebaugh 1 collaboration

Thomas Challman 1 collaboration

Rebecca C Spillmann 1 collaboration

Shalini N Jhangiani 1 collaboration

Zeynep Coban-Akdemir 1 collaboration

Seema Lalani 1 collaboration

Lingxiao Liu 1 collaboration

Anya Revah-Politi 1 collaboration

Alejandro Iglesias 1 collaboration

Edwin Guzman 1 collaboration

Evan Baugh 1 collaboration

Nathalie Boddaert 1 collaboration

Sophie Rondeau 1 collaboration

Clothide Ormieres 1 collaboration

Giulia Barcia 1 collaboration

Queenie K G Tan 1 collaboration

Tomi Pastinen 1 collaboration

Kazim Sheikh 1 collaboration

Suur Biliciler 1 collaboration

Davide Mei 1 collaboration

Federico Melani 1 collaboration

Vandana Shashi 1 collaboration

Yuval Yaron 1 collaboration

Mary Steele 1 collaboration

Elsebet Østergaard 1 collaboration

Lusine Nazaryan-Petersen 1 collaboration

Francisca Millan 1 collaboration

Teresa Santiago-Sim 1 collaboration

Julien Thevenon 1 collaboration

Denny Popp 1 collaboration

Konrad Platzer 1 collaboration

Pawel Gawlinski 1 collaboration

Wojciech Wiszniewski 1 collaboration

Davut Pehlivan 1 collaboration

Richard A Gibbs 1 collaboration

Valerie Gailus-Durner 1 collaboration

Renzo Guerrini 1 collaboration

Helmut Fuchs 1 collaboration

Martin Hrabě de Angelis 1 collaboration

Sabine M Hölter 1 collaboration

Hoi-Hung Cheung 1 collaboration

Shen Gu 1 collaboration

Saurav Guha 1 collaboration

Honey V Reddi 1 collaboration

Mahmoud Aarabi 1 collaboration

Marina DiStefano 1 collaboration

Jeffrey S Dungan 1 collaboration

Anthony R Gregg 1 collaboration

Hanyin Cheng 1 collaboration

Simona Capponi 1 collaboration

Elaine Marchi 1 collaboration

Quan Li 1 collaboration

Mengge Zhao 1 collaboration

Chunhua Weng 1 collaboration

Piatek G Stefan 1 collaboration

Helena Ahlfors 1 collaboration

Robert Kleyner 1 collaboration

Alan Rope 1 collaboration

Aimé Lumaka 1 collaboration

Prosper Lukusa 1 collaboration

Koenraad Devriendt 1 collaboration

Joris Vermeesch 1 collaboration

Elizabeth E Palmer 1 collaboration

Lucinda Murray 1 collaboration

Eyby Leon 1 collaboration

Jullianne Diaz 1 collaboration

Lisa Worgan 1 collaboration

Amalia Mallawaarachchi 1 collaboration

Julie Vogt 1 collaboration

Sonja A de Munnik 1 collaboration

Lauren Dreyer 1 collaboration

Gareth Baynam 1 collaboration

Lisa Ewans 1 collaboration

Zornitza Stark 1 collaboration

Sebastian Lunke 1 collaboration

Ana R Gonçalves 1 collaboration

Gabriela Soares 1 collaboration

Jorge Oliveira 1 collaboration

Emily Fassi 1 collaboration

Marcia Willing 1 collaboration

Jeff L Waugh 1 collaboration

Jean-Baptiste Riviere 1 collaboration

Sebastien Moutton 1 collaboration

Shehla Mohammed 1 collaboration

Katelyn Payne 1 collaboration

Laurence Walsh 1 collaboration

Amber Begtrup 1 collaboration

Maria J Guillen Sacoto 1 collaboration

Ganka Douglas 1 collaboration

Nora Alexander 1 collaboration

Michael F Buckley 1 collaboration

Paul R Mark 1 collaboration

Lesley C Adès 1 collaboration

Sarah A Sandaradura 1 collaboration

Tony Roscioli 1 collaboration

Pankaj B Agrawal 1 collaboration

Antonie D Kline 1 collaboration

Kai Wang 1 collaboration

H T Marc Timmers 1 collaboration

Gholson J Lyon 1 collaboration

Madhvi Rajpurkar 1 collaboration

Jennifer Lafferty 1 collaboration

Yaddanapudi Ravindranath 1 collaboration

Scott Barish 1 collaboration

Tahsin Stefan Barakat 1 collaboration

Brittany C Michel 1 collaboration

Nazar Mashtalir 1 collaboration

Jennifer B Phillips 1 collaboration

Alfredo M Valencia 1 collaboration

Berrak Ugur 1 collaboration

Jeremy Wegner 1 collaboration

Tiana M Scott 1 collaboration

Brett Bostwick 1 collaboration

David R Murdock 1 collaboration

Hongzheng Dai 1 collaboration

Elena Perenthaler 1 collaboration

Anita Nikoncuk 1 collaboration

Marjon van Slegtenhorst 1 collaboration

Alice S Brooks 1 collaboration

Caroline Nava 1 collaboration

Jessica Douglas 1 collaboration

Lance Rodan 1 collaboration

Catherine Nowak 1 collaboration

Marie Faoucher 1 collaboration

Patrick Edery 1 collaboration

Kendra L Engleman 1 collaboration

Dihong Zhou 1 collaboration

John Herriges 1 collaboration

Jennifer Gass 1 collaboration

Raymond J Louie 1 collaboration

Elliot Stolerman 1 collaboration

Camerun Washington 1 collaboration

Francesco Vetrini 1 collaboration

Aiko Otsubo 1 collaboration

Victoria M Pratt 1 collaboration

Erin Conboy 1 collaboration

Kayla Treat 1 collaboration

Nora Shannon 1 collaboration

Jose Camacho 1 collaboration

Bo Yuan 1 collaboration

Chun-An Chen 1 collaboration

Jill A Rosenfeld 1 collaboration

Monte Westerfield 1 collaboration

Michael Wangler 1 collaboration

Shinya Yamamoto 1 collaboration

Cigall Kadoch 1 collaboration

Daryl A Scott 1 collaboration

Hugo J Bellen 1 collaboration

Affiliations

Publications (17)

A clinical scoring system for congenital contractural arachnodactyly.

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.

Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome.

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.

Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.

Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease.

Recognition of Hyperinsulinaemic Hypoglycaemia in Infants with Congenital Central Hypoventilation Syndrome.

Clonal T-cell large granular lymphocyte proliferations in childhood and young adult immune dysregulation conditions.

Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome.

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.

Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review.

Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.

Laboratory testing for preconception/prenatal carrier screening: A technical standard of the American College of Medical Genetics and Genomics (ACMG).

Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.

Acquired Pure Red Cell Aplasia and Acquired Amegakaryocytic Thrombocytopenia Associated With Clonal Expansion of T-Cell Large Granular Lymphocytes in a Patient With Lipopolysaccharide-responsive Beige-like Anchor (LRBA) Protein Deficiency.

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.

Réseau de co-auteurs