Dian Donnai

Affiliations

Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester M13 9NT, UK.

Publications (5)

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.

American journal of human genetics

Avec: Norine Voisin , Rhonda E Schnur , Sofia Douzgou , Susan M Hiatt , Cecilie F Rustad , Natasha J Brown , Dawn L Earl , Boris Keren , Olga Levchenko , Sinje Geuer , Sarah Verheyen , Diana Johnson , Yuri A Zarate , Miroslava Hančárová , David J Amor , E Martina Bebin , Jasmin Blatterer , Alfredo Brusco , Gerarda Cappuccio , Joel Charrow , Nicolas Chatron , Gregory M Cooper , Thomas Courtin , Elena Dadali , Julien Delafontaine , Ennio Del Giudice , Martine Doco , Ganka Douglas , Astrid Eisenkölbl , Tara Funari , Giuliana Giannuzzi , Ursula Gruber-Sedlmayr , Nicolas Guex , Delphine Heron , Øystein L Holla , Anna C E Hurst , Jane Juusola , David Kronn , Alexander Lavrov , Crystle Lee , Séverine Lorrain , Else Merckoll , Anna Mikhaleva , Jennifer Norman , Sylvain Pradervand , Darina Prchalová , Lindsay Rhodes , Victoria R Sanders , Zdeněk Sedláček , Heidelis A Seebacher , Elizabeth A Sellars , Fabio Sirchia , Toshiki Takenouchi , Akemi J Tanaka , Heidi Taska-Tench , Elin Tønne , Kristian Tveten , Giuseppina Vitiello , Markéta Vlčková , Tomoko Uehara , Caroline Nava , Binnaz Yalcin , Kenjiro Kosaki , Dian Donnai , Stefan Mundlos , Nicola Brunetti-Pierri , Wendy K Chung , Alexandre Reymond

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.

HGG advances

Avec: Chaofan Zhang , Angad Jolly , Brian J Shayota , Juliana F Mazzeu , Haowei Du , Moez Dawood , Patricia Celestino Soper , Ariadne Ramalho de Lima , Bárbara Merfort Ferreira , Zeynep Coban-Akdemir , Janson White , Deborah Shears , Fraser Robert Thomson , Sarah Louise Douglas , Andrew Wainwright , Kathryn Bailey , Paul Wordsworth , Mike Oldridge , Tracy Lester , Alistair D Calder , Katja Dumic , Siddharth Banka , Dian Donnai , Shalini N Jhangiani , Lorraine Potocki , Wendy K Chung , Sara Mora , Hope Northrup , Myla Ashfaq , Jill A Rosenfeld , Kati Mason , Lynda C Pollack , Allyn McConkie-Rosell , Wei Kelly , Marie McDonald , Natalie S Hauser , Peter Leahy , Cynthia M Powell , Raquel Boy , Rachel Sayuri Honjo , Fernando Kok , Lucia R Martelli , Vicente Odone Filho , Genomics England Research Consortium , Donna M Muzny , Richard A Gibbs , Jennifer E Posey , Pengfei Liu , James R Lupski , V Reid Sutton , Claudia M B Carvalho

Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor.

Frontiers in molecular neuroscience

Avec: Raman Kumar , Elizabeth Palmer , Alison E Gardner , Renee Carroll , Siddharth Banka , Ola Abdelhadi , Dian Donnai , Ype Elgersma , Cynthia J Curry , Alice Gardham , Mohnish Suri , Rishikesh Malla , Lauren Ilana Brady , Mark Tarnopolsky , Dimitar N Azmanov , Vanessa Atkinson , Michael Black , Gareth Baynam , Lauren Dreyer , Robin Z Hayeems , Christian R Marshall , Gregory Costain , Marja W Wessels , Julia Baptista , James Drummond , Melanie Leffler , Michael Field , Jozef Gecz

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.

American journal of human genetics

Avec: Joery den Hoed , Elke de Boer , Norine Voisin , Alexander J M Dingemans , Nicolas Guex , Laurens Wiel , Christoffer Nellaker , Shivarajan M Amudhavalli , Siddharth Banka , Frederique S Bena , Bruria Ben-Zeev , Vincent R Bonagura , Ange-Line Bruel , Theresa Brunet , Han G Brunner , Hui B Chew , Jacqueline Chrast , Loreta Cimbalistienė , Hilary Coon , Auteur inconnu , Emmanuèlle C Délot , Florence Démurger , Anne-Sophie Denommé-Pichon , Christel Depienne , Dian Donnai , David A Dyment , Orly Elpeleg , Laurence Faivre , Christian Gilissen , Leslie Granger , Benjamin Haber , Yasuo Hachiya , Yasmin Hamzavi Abedi , Jennifer Hanebeck , Jayne Y Hehir-Kwa , Brooke Horist , Toshiyuki Itai , Adam Jackson , Rosalyn Jewell , Kelly L Jones , Shelagh Joss , Hirofumi Kashii , Mitsuhiro Kato , Anja A Kattentidt-Mouravieva , Fernando Kok , Urania Kotzaeridou , Vidya Krishnamurthy , Vaidutis Kučinskas , Alma Kuechler , Alinoë Lavillaureix , Pengfei Liu , Linda Manwaring , Naomichi Matsumoto , Benoît Mazel , Kirsty McWalter , Vardiella Meiner , Mohamad A Mikati , Satoko Miyatake , Takeshi Mizuguchi , Lip H Moey , Shehla Mohammed , Hagar Mor-Shaked , Hayley Mountford , Ruth Newbury-Ecob , Sylvie Odent , Laura Orec , Matthew Osmond , Timothy B Palculict , Michael Parker , Andrea K Petersen , Rolph Pfundt , Eglė Preikšaitienė , Kelly Radtke , Emmanuelle Ranza , Jill A Rosenfeld , Teresa Santiago-Sim , Caitlin Schwager , Margje Sinnema , Lot Snijders Blok , Rebecca C Spillmann , Alexander P A Stegmann , Isabelle Thiffault , Linh Tran , Adi Vaknin-Dembinsky , Juliana H Vedovato-Dos-Santos , Samantha A Schrier Vergano , Eric Vilain , Antonio Vitobello , Matias Wagner , Androu Waheeb , Marcia Willing , Britton Zuccarelli , Usha Kini , Dianne F Newbury , Tjitske Kleefstra , Alexandre Reymond , Simon E Fisher , Lisenka E L M Vissers

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

American journal of human genetics

Avec: Dmitrijs Rots , Arianne Bouman , Ayumi Yamada , Michael Levy , Alexander J M Dingemans , Bert B A de Vries , Martina Ruiterkamp-Versteeg , Nicole de Leeuw , Charlotte W Ockeloen , Rolph Pfundt , Elke de Boer , Joost Kummeling , Bregje van Bon , Hans van Bokhoven , Nael Nadif Kasri , Hanka Venselaar , Marielle Alders , Jennifer Kerkhof , Haley McConkey , Alma Kuechler , Bart Elffers , Rixje van Beeck Calkoen , Susanna Hofman , Audrey Smith , Maria Irene Valenzuela , Siddharth Srivastava , Zoe Frazier , Isabelle Maystadt , Carmelo Piscopo , Giuseppe Merla , Meena Balasubramanian , Gijs W E Santen , Kay Metcalfe , Soo-Mi Park , Laurent Pasquier , Siddharth Banka , Dian Donnai , Daniel Weisberg , Gertrud Strobl-Wildemann , Annemieke Wagemans , Maaike Vreeburg , Diana Baralle , Nicola Foulds , Ingrid Scurr , Nicola Brunetti-Pierri , Johanna M van Hagen , Emilia K Bijlsma , Anna H Hakonen , Carolina Courage , David Genevieve , Lucile Pinson , Francesca Forzano , Charu Deshpande , Maria L Kluskens , Lindsey Welling , Astrid S Plomp , Els K Vanhoutte , Louisa Kalsner , Janna A Hol , Audrey Putoux , Johanna Lazier , Pradeep Vasudevan , Elizabeth Ames , Jessica O'Shea , Damien Lederer , Julie Fleischer , Mary O'Connor , Melissa Pauly , Georgia Vasileiou , André Reis , Catherine Kiraly-Borri , Arjan Bouman , Chris Barnett , Marjan Nezarati , Lauren Borch , Gea Beunders , Kübra Özcan , Stéphanie Miot , Catharina M L Volker-Touw , Koen L I van Gassen , Gerarda Cappuccio , Katrien Janssens , Nofar Mor , Inna Shomer , Dan Dominissini , Matthew L Tedder , Alison M Muir , Bekim Sadikovic , Han G Brunner , Lisenka E L M Vissers , Yoichi Shinkai , Tjitske Kleefstra

Réseau de co-auteurs

Siddharth Banka 4 collaborations

Norine Voisin 2 collaborations

Gerarda Cappuccio 2 collaborations

Nicolas Guex 2 collaborations

Nicola Brunetti-Pierri 2 collaborations

Wendy K Chung 2 collaborations

Alexandre Reymond 2 collaborations

Jill A Rosenfeld 2 collaborations

Fernando Kok 2 collaborations

Pengfei Liu 2 collaborations

Elke de Boer 2 collaborations

Alexander J M Dingemans 2 collaborations

Han G Brunner 2 collaborations

Alma Kuechler 2 collaborations

Rolph Pfundt 2 collaborations

Tjitske Kleefstra 2 collaborations

Lisenka E L M Vissers 2 collaborations

Rhonda E Schnur 1 collaboration

Sofia Douzgou 1 collaboration

Susan M Hiatt 1 collaboration

Cecilie F Rustad 1 collaboration

Natasha J Brown 1 collaboration

Dawn L Earl 1 collaboration

Boris Keren 1 collaboration

Olga Levchenko 1 collaboration

Sinje Geuer 1 collaboration

Sarah Verheyen 1 collaboration

Diana Johnson 1 collaboration

Yuri A Zarate 1 collaboration

Miroslava Hančárová 1 collaboration

David J Amor 1 collaboration

E Martina Bebin 1 collaboration

Jasmin Blatterer 1 collaboration

Alfredo Brusco 1 collaboration

Joel Charrow 1 collaboration

Nicolas Chatron 1 collaboration

Gregory M Cooper 1 collaboration

Thomas Courtin 1 collaboration

Elena Dadali 1 collaboration

Julien Delafontaine 1 collaboration

Ennio Del Giudice 1 collaboration

Martine Doco 1 collaboration

Ganka Douglas 1 collaboration

Astrid Eisenkölbl 1 collaboration

Tara Funari 1 collaboration

Giuliana Giannuzzi 1 collaboration

Ursula Gruber-Sedlmayr 1 collaboration

Delphine Heron 1 collaboration

Øystein L Holla 1 collaboration

Anna C E Hurst 1 collaboration

Jane Juusola 1 collaboration

David Kronn 1 collaboration

Alexander Lavrov 1 collaboration

Crystle Lee 1 collaboration

Séverine Lorrain 1 collaboration

Else Merckoll 1 collaboration

Anna Mikhaleva 1 collaboration

Jennifer Norman 1 collaboration

Sylvain Pradervand 1 collaboration

Darina Prchalová 1 collaboration

Lindsay Rhodes 1 collaboration

Victoria R Sanders 1 collaboration

Zdeněk Sedláček 1 collaboration

Heidelis A Seebacher 1 collaboration

Elizabeth A Sellars 1 collaboration

Fabio Sirchia 1 collaboration

Toshiki Takenouchi 1 collaboration

Akemi J Tanaka 1 collaboration

Heidi Taska-Tench 1 collaboration

Elin Tønne 1 collaboration

Kristian Tveten 1 collaboration

Giuseppina Vitiello 1 collaboration

Markéta Vlčková 1 collaboration

Tomoko Uehara 1 collaboration

Caroline Nava 1 collaboration

Binnaz Yalcin 1 collaboration

Kenjiro Kosaki 1 collaboration

Stefan Mundlos 1 collaboration

Chaofan Zhang 1 collaboration

Angad Jolly 1 collaboration

Brian J Shayota 1 collaboration

Juliana F Mazzeu 1 collaboration

Haowei Du 1 collaboration

Moez Dawood 1 collaboration

Patricia Celestino Soper 1 collaboration

Ariadne Ramalho de Lima 1 collaboration

Bárbara Merfort Ferreira 1 collaboration

Zeynep Coban-Akdemir 1 collaboration

Janson White 1 collaboration

Deborah Shears 1 collaboration

Fraser Robert Thomson 1 collaboration

Sarah Louise Douglas 1 collaboration

Andrew Wainwright 1 collaboration

Kathryn Bailey 1 collaboration

Paul Wordsworth 1 collaboration

Mike Oldridge 1 collaboration

Tracy Lester 1 collaboration

Alistair D Calder 1 collaboration

Katja Dumic 1 collaboration

Shalini N Jhangiani 1 collaboration

Lorraine Potocki 1 collaboration

Sara Mora 1 collaboration

Hope Northrup 1 collaboration

Myla Ashfaq 1 collaboration

Kati Mason 1 collaboration

Lynda C Pollack 1 collaboration

Allyn McConkie-Rosell 1 collaboration

Wei Kelly 1 collaboration

Marie McDonald 1 collaboration

Natalie S Hauser 1 collaboration

Peter Leahy 1 collaboration

Cynthia M Powell 1 collaboration

Raquel Boy 1 collaboration

Rachel Sayuri Honjo 1 collaboration

Lucia R Martelli 1 collaboration

Vicente Odone Filho 1 collaboration

None Genomics England Research Consortium 1 collaboration

Donna M Muzny 1 collaboration

Richard A Gibbs 1 collaboration

Jennifer E Posey 1 collaboration

James R Lupski 1 collaboration

V Reid Sutton 1 collaboration

Claudia M B Carvalho 1 collaboration

Raman Kumar 1 collaboration

Elizabeth Palmer 1 collaboration

Alison E Gardner 1 collaboration

Renee Carroll 1 collaboration

Ola Abdelhadi 1 collaboration

Ype Elgersma 1 collaboration

Cynthia J Curry 1 collaboration

Alice Gardham 1 collaboration

Mohnish Suri 1 collaboration

Rishikesh Malla 1 collaboration

Lauren Ilana Brady 1 collaboration

Mark Tarnopolsky 1 collaboration

Dimitar N Azmanov 1 collaboration

Vanessa Atkinson 1 collaboration

Michael Black 1 collaboration

Gareth Baynam 1 collaboration

Lauren Dreyer 1 collaboration

Robin Z Hayeems 1 collaboration

Christian R Marshall 1 collaboration

Gregory Costain 1 collaboration

Marja W Wessels 1 collaboration

Julia Baptista 1 collaboration

James Drummond 1 collaboration

Melanie Leffler 1 collaboration

Michael Field 1 collaboration

Jozef Gecz 1 collaboration

Joery den Hoed 1 collaboration

Laurens Wiel 1 collaboration

Christoffer Nellaker 1 collaboration

Shivarajan M Amudhavalli 1 collaboration

Frederique S Bena 1 collaboration

Bruria Ben-Zeev 1 collaboration

Vincent R Bonagura 1 collaboration

Ange-Line Bruel 1 collaboration

Theresa Brunet 1 collaboration

Hui B Chew 1 collaboration

Jacqueline Chrast 1 collaboration

Loreta Cimbalistienė 1 collaboration

Hilary Coon 1 collaboration

None None 1 collaboration

Emmanuèlle C Délot 1 collaboration

Florence Démurger 1 collaboration

Anne-Sophie Denommé-Pichon 1 collaboration

Christel Depienne 1 collaboration

David A Dyment 1 collaboration

Orly Elpeleg 1 collaboration

Laurence Faivre 1 collaboration

Christian Gilissen 1 collaboration

Leslie Granger 1 collaboration

Benjamin Haber 1 collaboration

Yasuo Hachiya 1 collaboration

Yasmin Hamzavi Abedi 1 collaboration

Jennifer Hanebeck 1 collaboration

Jayne Y Hehir-Kwa 1 collaboration

Brooke Horist 1 collaboration

Toshiyuki Itai 1 collaboration

Adam Jackson 1 collaboration

Rosalyn Jewell 1 collaboration

Kelly L Jones 1 collaboration

Shelagh Joss 1 collaboration

Hirofumi Kashii 1 collaboration

Mitsuhiro Kato 1 collaboration

Anja A Kattentidt-Mouravieva 1 collaboration

Urania Kotzaeridou 1 collaboration

Vidya Krishnamurthy 1 collaboration

Vaidutis Kučinskas 1 collaboration

Alinoë Lavillaureix 1 collaboration

Linda Manwaring 1 collaboration

Naomichi Matsumoto 1 collaboration

Benoît Mazel 1 collaboration

Kirsty McWalter 1 collaboration

Vardiella Meiner 1 collaboration

Mohamad A Mikati 1 collaboration

Satoko Miyatake 1 collaboration

Takeshi Mizuguchi 1 collaboration

Lip H Moey 1 collaboration

Shehla Mohammed 1 collaboration

Hagar Mor-Shaked 1 collaboration

Hayley Mountford 1 collaboration

Ruth Newbury-Ecob 1 collaboration

Sylvie Odent 1 collaboration

Laura Orec 1 collaboration

Matthew Osmond 1 collaboration

Timothy B Palculict 1 collaboration

Michael Parker 1 collaboration

Andrea K Petersen 1 collaboration

Eglė Preikšaitienė 1 collaboration

Kelly Radtke 1 collaboration

Emmanuelle Ranza 1 collaboration

Teresa Santiago-Sim 1 collaboration

Caitlin Schwager 1 collaboration

Margje Sinnema 1 collaboration

Lot Snijders Blok 1 collaboration

Rebecca C Spillmann 1 collaboration

Alexander P A Stegmann 1 collaboration

Isabelle Thiffault 1 collaboration

Linh Tran 1 collaboration

Adi Vaknin-Dembinsky 1 collaboration

Juliana H Vedovato-Dos-Santos 1 collaboration

Samantha A Schrier Vergano 1 collaboration

Eric Vilain 1 collaboration

Antonio Vitobello 1 collaboration

Matias Wagner 1 collaboration

Androu Waheeb 1 collaboration

Marcia Willing 1 collaboration

Britton Zuccarelli 1 collaboration

Usha Kini 1 collaboration

Dianne F Newbury 1 collaboration

Simon E Fisher 1 collaboration

Dmitrijs Rots 1 collaboration

Arianne Bouman 1 collaboration

Ayumi Yamada 1 collaboration

Michael Levy 1 collaboration

Bert B A de Vries 1 collaboration

Martina Ruiterkamp-Versteeg 1 collaboration

Nicole de Leeuw 1 collaboration

Charlotte W Ockeloen 1 collaboration

Joost Kummeling 1 collaboration

Bregje van Bon 1 collaboration

Hans van Bokhoven 1 collaboration

Nael Nadif Kasri 1 collaboration

Hanka Venselaar 1 collaboration

Marielle Alders 1 collaboration

Jennifer Kerkhof 1 collaboration

Haley McConkey 1 collaboration

Bart Elffers 1 collaboration

Rixje van Beeck Calkoen 1 collaboration

Susanna Hofman 1 collaboration

Audrey Smith 1 collaboration

Maria Irene Valenzuela 1 collaboration

Siddharth Srivastava 1 collaboration

Zoe Frazier 1 collaboration

Isabelle Maystadt 1 collaboration

Carmelo Piscopo 1 collaboration

Giuseppe Merla 1 collaboration

Meena Balasubramanian 1 collaboration

Gijs W E Santen 1 collaboration

Kay Metcalfe 1 collaboration

Soo-Mi Park 1 collaboration

Laurent Pasquier 1 collaboration

Daniel Weisberg 1 collaboration

Gertrud Strobl-Wildemann 1 collaboration

Annemieke Wagemans 1 collaboration

Maaike Vreeburg 1 collaboration

Diana Baralle 1 collaboration

Nicola Foulds 1 collaboration

Ingrid Scurr 1 collaboration

Johanna M van Hagen 1 collaboration

Emilia K Bijlsma 1 collaboration

Anna H Hakonen 1 collaboration

Carolina Courage 1 collaboration

David Genevieve 1 collaboration

Lucile Pinson 1 collaboration

Francesca Forzano 1 collaboration

Charu Deshpande 1 collaboration

Maria L Kluskens 1 collaboration

Lindsey Welling 1 collaboration

Astrid S Plomp 1 collaboration

Els K Vanhoutte 1 collaboration

Louisa Kalsner 1 collaboration

Janna A Hol 1 collaboration

Audrey Putoux 1 collaboration

Johanna Lazier 1 collaboration

Pradeep Vasudevan 1 collaboration

Elizabeth Ames 1 collaboration

Jessica O'Shea 1 collaboration

Damien Lederer 1 collaboration

Julie Fleischer 1 collaboration

Mary O'Connor 1 collaboration

Melissa Pauly 1 collaboration

Georgia Vasileiou 1 collaboration

André Reis 1 collaboration

Catherine Kiraly-Borri 1 collaboration

Arjan Bouman 1 collaboration

Chris Barnett 1 collaboration

Marjan Nezarati 1 collaboration

Lauren Borch 1 collaboration

Gea Beunders 1 collaboration

Kübra Özcan 1 collaboration

Stéphanie Miot 1 collaboration

Catharina M L Volker-Touw 1 collaboration

Koen L I van Gassen 1 collaboration

Katrien Janssens 1 collaboration

Nofar Mor 1 collaboration

Inna Shomer 1 collaboration

Dan Dominissini 1 collaboration

Matthew L Tedder 1 collaboration

Alison M Muir 1 collaboration

Bekim Sadikovic 1 collaboration

Yoichi Shinkai 1 collaboration