N Canham

Natalie Canham 15 collaborations

None None 6 collaborations

Alice Gardham 5 collaborations

Siddharth Banka 4 collaborations

Louise C Wilson 3 collaborations

Samantha A Vergano 3 collaborations

Ineke van der Burgt 3 collaborations

Erica H Gerkes 3 collaborations

Lone W Laulund 3 collaborations

Damien Lederer 3 collaborations

Seiji Mizuno 3 collaborations

Nobuhiko Okamoto 3 collaborations

Miranda Splitt 3 collaborations

Rolph Pfundt 3 collaborations

Eric W Klee 3 collaborations

Meriel McEntagart 3 collaborations

Katrina Prescott 3 collaborations

Sian Ellard 3 collaborations

Jenny E V Morton 2 collaborations

Andrew O M Wilkie 2 collaborations

Pleuntje J van der Sluijs 2 collaborations

Sandra Jansen 2 collaborations

Miho Adachi-Fukuda 2 collaborations

Yasemin Alanay 2 collaborations

Adila AlKindy 2 collaborations

Anwar Baban 2 collaborations

Allan Bayat 2 collaborations

Stefanie Beck-Wödl 2 collaborations

Katherine Berry 2 collaborations

Emilia K Bijlsma 2 collaborations

Levinus A Bok 2 collaborations

Alwin F J Brouwer 2 collaborations

Philippe M Campeau 2 collaborations

Krystyna Chrzanowska 2 collaborations

Yoyo W Y Chu 2 collaborations

Brain H Y Chung 2 collaborations

Karin Dahan 2 collaborations

Marjan De Rademaeker 2 collaborations

Anne Destree 2 collaborations

Tracy Dudding-Byth 2 collaborations

Rachel Earl 2 collaborations

Nursel Elcioglu 2 collaborations

Ellen R Elias 2 collaborations

Christina Fagerberg 2 collaborations

Blanca Gener 2 collaborations

Ute Grasshoff 2 collaborations

Arie van Haeringen 2 collaborations

Karin R Heitink 2 collaborations

Johanna C Herkert 2 collaborations

Nicolette S den Hollander 2 collaborations

Denise Horn 2 collaborations

David Hunt 2 collaborations

Sarina G Kant 2 collaborations

Mitsuhiro Kato 2 collaborations

Hülya Kayserili 2 collaborations

Rogier Kersseboom 2 collaborations

Esra Kilic 2 collaborations

Malgorzata Krajewska-Walasek 2 collaborations

Kylin Lammers 2 collaborations

Melissa Lees 2 collaborations

Vanesa López-González 2 collaborations

Saskia Maas 2 collaborations

Grazia M S Mancini 2 collaborations

Carlo Marcelis 2 collaborations

Francisco Martinez 2 collaborations

Isabelle Maystadt 2 collaborations

Marianne McGuire 2 collaborations

Shane McKee 2 collaborations

Sarju Mehta 2 collaborations

Kay Metcalfe 2 collaborations

Jeff Milunsky 2 collaborations

John B Moeschler 2 collaborations

Christian Netzer 2 collaborations

Charlotte W Ockeloen 2 collaborations

Barbara Oehl-Jaschkowitz 2 collaborations

Sharon N M Olminkhof 2 collaborations

Carmen Orellana 2 collaborations

Laurent Pasquier 2 collaborations

Caroline Pottinger 2 collaborations

Vera Riehmer 2 collaborations

Stephen P Robertson 2 collaborations

Maian Roifman 2 collaborations

Caroline Rooryck 2 collaborations

Fabienne G Ropers 2 collaborations

Monica Rosello 2 collaborations

Claudia A L Ruivenkamp 2 collaborations

Mahmut S Sagiroglu 2 collaborations

Suzanne C E H Sallevelt 2 collaborations

Amparo Sanchis Calvo 2 collaborations

Pelin O Simsek-Kiper 2 collaborations

Gabriela Soares 2 collaborations

Lucia Solaeche 2 collaborations

Fatma Mujgan Sonmez 2 collaborations

Duco Steenbeek 2 collaborations

Alexander P A Stegmann 2 collaborations

Constance T R M Stumpel 2 collaborations

Saori Tanabe 2 collaborations

Eyyup Uctepe 2 collaborations

G Eda Utine 2 collaborations

Hermine E Veenstra-Knol 2 collaborations

Sunita Venkateswaran 2 collaborations

Catheline Vilain 2 collaborations

Catherine Vincent-Delorme 2 collaborations

Anneke T Vulto-van Silfhout 2 collaborations

Patricia Wheeler 2 collaborations

Golder N Wilson 2 collaborations

Bernd Wollnik 2 collaborations

Tomoki Kosho 2 collaborations

Dagmar Wieczorek 2 collaborations

Evan Eichler 2 collaborations

Bert B A de Vries 2 collaborations

Jill Clayton-Smith 2 collaborations

Gijs W E Santen 2 collaborations

Patrick R Blackburn 2 collaborations

Sophie Dupuis-Girod 2 collaborations

Emily Fassi 2 collaborations

Rhoda Akilapa 2 collaborations

Frances Elmslie 2 collaborations

Eleanor Hay 2 collaborations

Diana Johnson 2 collaborations

Helen Stewart 2 collaborations

Mohnish Suri 2 collaborations

Andrew E Fry 2 collaborations

Katherine Lachlan 2 collaborations

Sara Cuvertino 2 collaborations

Verity Hartill 2 collaborations

Alice Colyer 2 collaborations

Terence Garner 2 collaborations

Nisha Nair 2 collaborations

Lihadh Al-Gazali 2 collaborations

Victor Faundes 2 collaborations

Frances Flinter 2 collaborations

Jozef Hertecant 2 collaborations

Muriel Holder-Espinasse 2 collaborations

Brian Jackson 2 collaborations

Sally Ann Lynch 2 collaborations

Fatima Nadat 2 collaborations

Vagheesh M Narasimhan 2 collaborations

Michelle Peckham 2 collaborations

Robert Sellers 2 collaborations

Marco Seri 2 collaborations

Francesca Montanari 2 collaborations

Laura Southgate 2 collaborations

Gabriella Maria Squeo 2 collaborations

Richard Trembath 2 collaborations

David van Heel 2 collaborations

Santina Venuto 2 collaborations

Daniel Weisberg 2 collaborations

Karen Stals 2 collaborations

Anne Barton 2 collaborations

Susan J Kimber 2 collaborations

Eamonn Sheridan 2 collaborations

Giuseppe Merla 2 collaborations

Adam Stevens 2 collaborations

Colin A Johnson 2 collaborations

Carl Fratter 2 collaborations

Emma Clement 2 collaborations

Jenny Higgs 2 collaborations

Paul Brennan 2 collaborations

Meena Balasubramanian 2 collaborations

Sally A Lynch 2 collaborations

Graeme E Glass 1 collaboration

Justine O'Hara 1 collaboration

Deirdre Cilliers 1 collaboration

David Dunaway 1 collaboration

Aimee L Fenwick 1 collaboration

Noor-Owase Jeelani 1 collaboration

David Johnson 1 collaboration

Tracy Lester 1 collaboration

Helen Lord 1 collaboration

Hiroshi Nishikawa 1 collaboration

Peter Noons 1 collaboration

Kemmy Schwiebert 1 collaboration

Caroleen Shipster 1 collaboration

Alison Taylor-Beadling 1 collaboration

Stephen R F Twigg 1 collaboration

Pradeep Vasudevan 1 collaboration

Steven A Wall 1 collaboration

Ash Zawerton 1 collaboration

Cyril Mignot 1 collaboration

Ashley Sigafoos 1 collaboration

Abdul Haseeb 1 collaboration

Kirsty McWalter 1 collaboration

Shoji Ichikawa 1 collaboration

Caroline Nava 1 collaboration

Boris Keren 1 collaboration

Perrine Charles 1 collaboration

Isabelle Marey 1 collaboration

Anne-Claude Tabet 1 collaboration

Jonathan Levy 1 collaboration

Laurence Perrin 1 collaboration

Andreas Hartmann 1 collaboration

Gaetan Lesca 1 collaboration

Caroline Schluth-Bolard 1 collaboration

Pauline Monin 1 collaboration

Maria J Guillen Sacoto 1 collaboration

Rhonda E Schnur 1 collaboration

Zehua Zhu 1 collaboration

Alice Poisson 1 collaboration

Salima El Chehadeh 1 collaboration

Yves Alembik 1 collaboration

Ange-Line Bruel 1 collaboration

Daphné Lehalle 1 collaboration

Sophie Nambot 1 collaboration

Sébastien Moutton 1 collaboration

Sylvie Odent 1 collaboration

Sylvie Jaillard 1 collaboration

Christèle Dubourg 1 collaboration

Yvonne Hilhorst-Hofstee 1 collaboration

Tina Barbaro-Dieber 1 collaboration

Lucia Ortega 1 collaboration

Elizabeth J Bhoj 1 collaboration

Diane Masser-Frye 1 collaboration

Lynne M Bird 1 collaboration

Kristin Lindstrom 1 collaboration

Keri M Ramsey 1 collaboration

Vinodh Narayanan 1 collaboration

Marcia Willing 1 collaboration

Trevor Cole 1 collaboration

Claire G Salter 1 collaboration

Anthony Vandersteen 1 collaboration

Patrick Rump 1 collaboration

Jolien S Klein Wassink-Ruiter 1 collaboration

Emilia Bijlsma 1 collaboration

Mariëtte J V Hoffer 1 collaboration

Marcelo Vargas 1 collaboration

Antonina Wojcik 1 collaboration

Florian Cherik 1 collaboration

Christine Francannet 1 collaboration

Jill A Rosenfeld 1 collaboration

Keren Machol 1 collaboration

Daryl A Scott 1 collaboration

Carlos A Bacino 1 collaboration

Xia Wang 1 collaboration

Gary D Clark 1 collaboration

Marta Bertoli 1 collaboration

Simon Zwolinski 1 collaboration

Rhys H Thomas 1 collaboration

Ela Akay 1 collaboration

Richard C Chang 1 collaboration

Rebekah Bressi 1 collaboration

Rossana Sanchez Russo 1 collaboration

Myriam Srour 1 collaboration

Laura Russell 1 collaboration

Anne-Marie E Goyette 1 collaboration

Lucie Dupuis 1 collaboration

Roberto Mendoza-Londono 1 collaboration

Catherine Karimov 1 collaboration

Maries Joseph 1 collaboration

Mathilde Nizon 1 collaboration

Benjamin Cogné 1 collaboration

Alma Kuechler 1 collaboration

Amélie Piton 1 collaboration

Véronique Lefebvre 1 collaboration

Karl J Clark 1 collaboration

Christel Depienne 1 collaboration

B Poljak 1 collaboration

U Agarwal 1 collaboration

Z Alfirevic 1 collaboration

S Allen 1 collaboration

J Higgs 1 collaboration

A Kaelin Agten 1 collaboration

A Khalil 1 collaboration

D Roberts 1 collaboration

F Mone 1 collaboration

K Navaratnam 1 collaboration

Marie Bernkopf 1 collaboration

Ummi B Abdullah 1 collaboration

Stephen J Bush 1 collaboration

Katherine A Wood 1 collaboration

Sahar Ghaffari 1 collaboration

Eleni Giannoulatou 1 collaboration

Nils Koelling 1 collaboration

Geoffrey J Maher 1 collaboration

Loïc M Thibaut 1 collaboration

Jonathan Williams 1 collaboration

Edward M Blair 1 collaboration

Fiona Blanco Kelly 1 collaboration

Angela Bloss 1 collaboration

Emma Burkitt-Wright 1 collaboration

Alexander T Deng 1 collaboration

Abhijit Dixit 1 collaboration

Jacqueline Eason 1 collaboration

Muriel Holder 1 collaboration

Tessa Homfray 1 collaboration

Jane A Hurst 1 collaboration

Wendy D Jones 1 collaboration

Usha Kini 1 collaboration

Emma Kivuva 1 collaboration

Ajith Kumar 1 collaboration

Melissa M Lees 1 collaboration

Harry G Leitch 1 collaboration

Andrea H Németh 1 collaboration

Shwetha Ramachandrappa 1 collaboration

Katherine Saunders 1 collaboration

Deborah J Shears 1 collaboration

Lucy Side 1 collaboration

Alison Stewart 1 collaboration

Penny Clouston 1 collaboration

Robert W Davies 1 collaboration

Anne Goriely 1 collaboration

Víctor Faundes 1 collaboration

Stephanie Goh 1 collaboration

Heidre Bezuidenhout 1 collaboration

Hans T Bjornsson 1 collaboration

Lisa Bradley 1 collaboration

Angela F Brady 1 collaboration

Elise Brischoux-Boucher 1 collaboration

Han Brunner 1 collaboration

Saskia Bulk 1 collaboration

Declan Cody 1 collaboration

Maria Lisa Dentici 1 collaboration

Maria Cristina Digilio 1 collaboration

Harinder Gill 1 collaboration

Jane Hurst 1 collaboration

Sophie Julia 1 collaboration

Robert Roger Lebel 1 collaboration

Melissa Byler 1 collaboration

Eric Gershon 1 collaboration

Edmond Lemire 1 collaboration

Maria Gnazzo 1 collaboration

Francesca Romana Lepri 1 collaboration

Antonia Marchese 1 collaboration

Julie McGaughran 1 collaboration

Claudine Rieubland 1 collaboration

Jonathan Rodgers 1 collaboration

Erina Sasaki 1 collaboration

Emmanuel Scalais 1 collaboration

Ingrid Scurr 1 collaboration

Naomichi Matsumoto 1 collaboration

Noriko Miyake 1 collaboration

Valérie Benoit 1 collaboration

Aude Beyens 1 collaboration

Juliette Albuisson 1 collaboration

Annekatrien Boel 1 collaboration

Mazen Al-Essa 1 collaboration

Waheed Al-Manea 1 collaboration

Damien Bonnet 1 collaboration

Ozlem Bostan 1 collaboration

Odile Boute 1 collaboration

Tiffany Busa 1 collaboration

Nathalie Canham 1 collaboration

Ergun Cil 1 collaboration

Paul J Coucke 1 collaboration

Margot A Cousin 1 collaboration

Majed Dasouki 1 collaboration

Julie De Backer 1 collaboration

Anne De Paepe 1 collaboration

Sofie De Schepper 1 collaboration

Deepthi De Silva 1 collaboration

Koenraad Devriendt 1 collaboration

Inge De Wandele 1 collaboration

David R Deyle 1 collaboration

Harry Dietz 1 collaboration

Eudice Fontenot 1 collaboration

Björn Fischer-Zirnsak 1 collaboration

Alper Gezdirici 1 collaboration

Jamal Ghoumid 1 collaboration

Fabienne Giuliano 1 collaboration

Neus Baena 1 collaboration

Mohammed Z Haider 1 collaboration

Joshua S Hardin 1 collaboration

Xavier Jeunemaitre 1 collaboration

Uwe Kornak 1 collaboration

Manuel F Landecho 1 collaboration

Anne Legrand 1 collaboration

Bart Loeys 1 collaboration

Stanislas Lyonnet 1 collaboration

Helen Michael 1 collaboration

Pamela Moceri 1 collaboration

Shehla Mohammed 1 collaboration

Laura Muiño-Mosquera 1 collaboration

Sheela Nampoothiri 1 collaboration

Karin Pichler 1 collaboration

Anna Rajeb 1 collaboration

Maria Ramos-Arroyo 1 collaboration

Massimiliano Rossi 1 collaboration

Mustafa Salih 1 collaboration

Mohammed Z Seidahmed 1 collaboration

Elise Schaefer 1 collaboration

Elisabeth Steichen-Gersdorf 1 collaboration

Sehime Temel 1 collaboration

Fahrettin Uysal 1 collaboration

Marine Vanhomwegen 1 collaboration

Lut Van Laer 1 collaboration

Lionel Van Maldergem 1 collaboration

David Warner 1 collaboration

Andy Willaert 1 collaboration

Tom R Collins Ii 1 collaboration

Andrea Taylor 1 collaboration

Elaine C Davis 1 collaboration

Yuri Zarate 1 collaboration

Bert Callewaert 1 collaboration

Daphne Yau 1 collaboration

Kevin Colclough 1 collaboration

Anuja Natarajan 1 collaboration

Ruchi Parikh 1 collaboration

Mohammed Didi 1 collaboration

Senthil Senniappan 1 collaboration

Indraneel Banerjee 1 collaboration

Alistair T Pagnamenta 1 collaboration

Jing Yu 1 collaboration

Susan Walker 1 collaboration

Alexandra J Noble 1 collaboration

Jenny Lord 1 collaboration

Prasun Dutta 1 collaboration

Mona Hashim 1 collaboration

Carme Camps 1 collaboration

Hannah Green 1 collaboration

Smrithi Devaiah 1 collaboration

Lina Nashef 1 collaboration

Jason Parr 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

Ed Blair 1 collaboration

Francesca Forzano 1 collaboration

Anirban Majumdar 1 collaboration

Nayana Lahiri 1 collaboration

Sarah Smithson 1 collaboration

Eduardo Calpena 1 collaboration

Adam Jackson 1 collaboration

Hannah Titheradge 1 collaboration

Ruth McGowan 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

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

Ian Tomlinson 1 collaboration

Diana Baralle 1 collaboration

Holm H Uhlig 1 collaboration

Jenny C Taylor 1 collaboration

Talisha Goh 1 collaboration

Cat Hope 1 collaboration

Louise Devenish 1 collaboration

Margaret S Barrett 1 collaboration

Nicole Canham 1 collaboration

Robert L Burke 1 collaboration

Clare Hall 1 collaboration

Schaida Schirwani 1 collaboration

Natalie Hauser 1 collaboration

Anna Platt 1 collaboration

Sumit Punj 1 collaboration

D D D Study 1 collaboration

Sahar Mansour 1 collaboration

Anna Durkin 1 collaboration

Shadi Albaba 1 collaboration

Jenny E Morton 1 collaboration

Andrew Douglas 1 collaboration

Ana Beleza 1 collaboration

Denise Williams 1 collaboration

Catharina M L Volker-Touw 1 collaboration

Virginia Clowes 1 collaboration

Volker Straub 1 collaboration

Frances Gibbon 1 collaboration

Mayy El Gamal 1 collaboration

Vinod Varghese 1 collaboration

Michael J Parker 1 collaboration

Ruth Newbury-Ecob 1 collaboration

Peter D Turnpenny 1 collaboration

Neeti Ghali 1 collaboration

J Elson 1 collaboration

A Drakeley 1 collaboration

C Achilli 1 collaboration

C Kulke 1 collaboration

Sarah McAllister 1 collaboration

Alan Simpson 1 collaboration

Vicki Tsianakas 1 collaboration

Nick Canham 1 collaboration

Vittoria De Meo 1 collaboration

Cady Stone 1 collaboration

Glenn Robert 1 collaboration

Ekaterina Lyulcheva-Bennett 1 collaboration

Christopher Kershaw 1 collaboration

Eleanor Baker 1 collaboration

Stuart Gillies 1 collaboration

Emma McCarthy 1 collaboration

Dawn Hennigan 1 collaboration

Chris Parks 1 collaboration

Daimark Bennett 1 collaboration

Enrico D H Konrad 1 collaboration

Niels Nardini 1 collaboration

Almuth Caliebe 1 collaboration

Inga Nagel 1 collaboration

Dana Young 1 collaboration

Gabriella Horvath 1 collaboration

Stephanie L Santoro 1 collaboration

Christine Shuss 1 collaboration

Alban Ziegler 1 collaboration

Dominique Bonneau 1 collaboration

Marlies Kempers 1 collaboration

Eric Legius 1 collaboration

Arjan Bouman 1 collaboration

Kyra E Stuurman 1 collaboration

Katrin Õunap 1 collaboration

Sander Pajusalu 1 collaboration

Monica H Wojcik 1 collaboration

Georgia Vasileiou 1 collaboration

Gwenaël Le Guyader 1 collaboration

Hege M Schnelle 1 collaboration

Siren Berland 1 collaboration

Evelien Zonneveld-Huijssoon 1 collaboration

Simone Kersten 1 collaboration

Aditi Gupta 1 collaboration

Marissa S Ellingson 1 collaboration

Matthew J Ferber 1 collaboration

Radhika Dhamija 1 collaboration

Klaske D Lichtenbelt 1 collaboration

Amy Kenney 1 collaboration

Rami Abou Jamra 1 collaboration

Konrad Platzer 1 collaboration

Mary Ella Pierpont 1 collaboration

Divya Khattar 1 collaboration

Robert J Hopkin 1 collaboration

Richard J Martin 1 collaboration

Marjolijn C J Jongmans 1 collaboration

Vivian Y Chang 1 collaboration

Julian A Martinez-Agosto 1 collaboration

Outi Kuismin 1 collaboration

Mitja I Kurki 1 collaboration

Olli Pietiläinen 1 collaboration

Aarno Palotie 1 collaboration

Timothy J Maarup 1 collaboration

Diana S Johnson 1 collaboration

Katja Venborg Pedersen 1 collaboration

Moira Blyth 1 collaboration

Rita Ibitoye 1 collaboration

Eva H Brilstra 1 collaboration

Marwan Shinawi 1 collaboration

Heinrich Sticht 1 collaboration

Anne Gregor 1 collaboration

Hilde Van Esch 1 collaboration

Christiane Zweier 1 collaboration

Katherine R Schon 1 collaboration

Rita Horvath 1 collaboration

Wei Wei 1 collaboration

Claudia Calabrese 1 collaboration

Arianna Tucci 1 collaboration

Kristina Ibañez 1 collaboration

Thiloka Ratnaike 1 collaboration

Robert D S Pitceathly 1 collaboration

Enrico Bugiardini 1 collaboration

Rosaline Quinlivan 1 collaboration

Michael G Hanna 1 collaboration

Emma Ashton 1 collaboration

John A Sayer 1 collaboration

Dragana Josifova 1 collaboration

Louise Izatt 1 collaboration

Victoria Nesbitt 1 collaboration

Timothy Barrett 1 collaboration

Dominic J McMullen 1 collaboration

Audrey Smith 1 collaboration

Charulata Deshpande 1 collaboration

Sarah F Smithson 1 collaboration

Richard Festenstein 1 collaboration

Mark Caulfield 1 collaboration

Henry Houlden 1 collaboration

Shamima Rahman 1 collaboration

Patrick F Chinnery 1 collaboration

Affiliations

Publications (20)

ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Prenatal exome sequencing and impact on perinatal outcome: cohort study.

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.

Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.

Correction: Arterial tortuosity syndrome: 40 new families and literature review.

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.

Congenital hyperinsulinism due to mutations in HNF1A.

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

Beyond the gender binary: a survey of gender marginalization and social boundaries in Australian jazz and improvisation.

Mosaicism in ASXL3-related syndrome: Description of five patients from three families.

Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review.

The Use of Expanded Carrier Screening in Reproductive Medicine: Scientific Impact Paper No. 74.

Developing a theory-informed complex intervention to improve nurse-patient therapeutic engagement employing Experience-based Co-design and the Behaviour Change Wheel: an acute mental health ward case study.

Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly.

Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.

Réseau de co-auteurs