E Kivuva

Affiliations

Peninsula Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, RD&E Heavitree, Exeter, UK.

Publications (5)

Systematic assessment of outcomes following a genetic diagnosis identified through a large-scale research study into developmental disorders.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: H Copeland , E Kivuva , H V Firth , C F Wright

De novo variants in CNOT3 cause a variable neurodevelopmental disorder.

European journal of human genetics : EJHG

Avec: R Martin , M Splitt , D Genevieve , E Aten , A Collins , C I de Bie , L Faivre , N Foulds , J Giltay , R Ibitoye , S Joss , J Kennedy , B Kerr , E Kivuva , M Koopmans , R Newbury-Ecob , N Jean-Marçais , E A J Peeters , S Smithson , S Tomkins , F Tranmauthem , A Piton , A van Haeringen

An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants.

bioRxiv : the preprint server for biology

Avec: Bruce Nmezi , Guillermo Rodriguez Bey , Talia DeFrancesco Oranburg , Kseniia Dudnyk , Santana M Lardo , Nathan Herdman , Anastasia Jacko , Sandy Rubio , Emanuel Loeza Alcocer , Julia Kofler , Dongkyeong Kim , Julia Rankin , Emma Kivuva , Nicholas Gutowski , Katherine Schon , Jelle van den Ameele , Patrick F Chinnery , Sérgio B Sousa , Filipe Palavra , Camilo Toro , Filippo Pinto E Vairo , Jonas Saute , Lisa Pan , Murad Alturkustani , Robert Hammond , Francois Gros-Louis , Michael Gold , Yungki Park , Geneviève Bernard , Raili Raininko , Jian Zhou , Sarah J Hainer , Quasar S Padiath

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

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Lisa Lenaerts , Sara Reynhout , Iris Verbinnen , Frédéric Laumonnier , Annick Toutain , Frédérique Bonnet-Brilhault , Yana Hoorne , Shelagh Joss , Anna K Chassevent , Constance Smith-Hicks , Bart Loeys , Pascal Joset , Katharina Steindl , Anita Rauch , Sarju G Mehta , Wendy K Chung , Koenraad Devriendt , Susan E Holder , Tamison Jewett , Lauren M Baldwin , William G Wilson , Shelley Towner , Siddharth Srivastava , Hannah F Johnson , Cornelia Daumer-Haas , Martina Baethmann , Anna Ruiz , Elisabeth Gabau , Vani Jain , Vinod Varghese , Ali Al-Beshri , Stephen Fulton , Oded Wechsberg , Naama Orenstein , Katrina Prescott , Anne-Marie Childs , Laurence Faivre , Sébastien Moutton , Jennifer A Sullivan , Vandana Shashi , Suzanne M Koudijs , Malou Heijligers , Emma Kivuva , Amy McTague , Alison Male , Yvette van Ierland , Barbara Plecko , Isabelle Maystadt , Rizwan Hamid , Vickie L Hannig , Gunnar Houge , Veerle Janssens

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

Nature communications

Avec: Marie Bernkopf , Ummi B Abdullah , Stephen J Bush , Katherine A Wood , Sahar Ghaffari , Eleni Giannoulatou , Nils Koelling , Geoffrey J Maher , Loïc M Thibaut , Jonathan Williams , Edward M Blair , Fiona Blanco Kelly , Angela Bloss , Emma Burkitt-Wright , Natalie Canham , Alexander T Deng , Abhijit Dixit , Jacqueline Eason , Frances Elmslie , Alice Gardham , Eleanor Hay , Muriel Holder , Tessa Homfray , Jane A Hurst , Diana Johnson , Wendy D Jones , Usha Kini , Emma Kivuva , Ajith Kumar , Melissa M Lees , Harry G Leitch , Jenny E V Morton , Andrea H Németh , Shwetha Ramachandrappa , Katherine Saunders , Deborah J Shears , Lucy Side , Miranda Splitt , Alison Stewart , Helen Stewart , Mohnish Suri , Penny Clouston , Robert W Davies , Andrew O M Wilkie , Anne Goriely

Réseau de co-auteurs

Emma Kivuva 3 collaborations

H Copeland 1 collaboration

H V Firth 1 collaboration

C F Wright 1 collaboration

R Martin 1 collaboration

M Splitt 1 collaboration

D Genevieve 1 collaboration

E Aten 1 collaboration

A Collins 1 collaboration

C I de Bie 1 collaboration

L Faivre 1 collaboration

N Foulds 1 collaboration

J Giltay 1 collaboration

R Ibitoye 1 collaboration

S Joss 1 collaboration

J Kennedy 1 collaboration

B Kerr 1 collaboration

M Koopmans 1 collaboration

R Newbury-Ecob 1 collaboration

N Jean-Marçais 1 collaboration

E A J Peeters 1 collaboration

S Smithson 1 collaboration

S Tomkins 1 collaboration

F Tranmauthem 1 collaboration

A Piton 1 collaboration

A van Haeringen 1 collaboration

Bruce Nmezi 1 collaboration

Guillermo Rodriguez Bey 1 collaboration

Talia DeFrancesco Oranburg 1 collaboration

Kseniia Dudnyk 1 collaboration

Santana M Lardo 1 collaboration

Nathan Herdman 1 collaboration

Anastasia Jacko 1 collaboration

Sandy Rubio 1 collaboration

Emanuel Loeza Alcocer 1 collaboration

Julia Kofler 1 collaboration

Dongkyeong Kim 1 collaboration

Julia Rankin 1 collaboration

Nicholas Gutowski 1 collaboration

Katherine Schon 1 collaboration

Jelle van den Ameele 1 collaboration

Patrick F Chinnery 1 collaboration

Sérgio B Sousa 1 collaboration

Filipe Palavra 1 collaboration

Camilo Toro 1 collaboration

Filippo Pinto E Vairo 1 collaboration

Jonas Saute 1 collaboration

Lisa Pan 1 collaboration

Murad Alturkustani 1 collaboration

Robert Hammond 1 collaboration

Francois Gros-Louis 1 collaboration

Michael Gold 1 collaboration

Yungki Park 1 collaboration

Geneviève Bernard 1 collaboration

Raili Raininko 1 collaboration

Jian Zhou 1 collaboration

Sarah J Hainer 1 collaboration

Quasar S Padiath 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

Anna Ruiz 1 collaboration

Elisabeth Gabau 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

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

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

Natalie Canham 1 collaboration

Alexander T Deng 1 collaboration

Abhijit Dixit 1 collaboration

Jacqueline Eason 1 collaboration

Frances Elmslie 1 collaboration

Alice Gardham 1 collaboration

Eleanor Hay 1 collaboration

Muriel Holder 1 collaboration

Tessa Homfray 1 collaboration

Jane A Hurst 1 collaboration

Diana Johnson 1 collaboration

Wendy D Jones 1 collaboration

Usha Kini 1 collaboration

Ajith Kumar 1 collaboration

Melissa M Lees 1 collaboration

Harry G Leitch 1 collaboration

Jenny E V Morton 1 collaboration

Andrea H Németh 1 collaboration

Shwetha Ramachandrappa 1 collaboration

Katherine Saunders 1 collaboration

Deborah J Shears 1 collaboration

Lucy Side 1 collaboration

Miranda Splitt 1 collaboration

Alison Stewart 1 collaboration

Helen Stewart 1 collaboration

Mohnish Suri 1 collaboration

Penny Clouston 1 collaboration

Robert W Davies 1 collaboration

Andrew O M Wilkie 1 collaboration

Anne Goriely 1 collaboration