D Josifova

Dragana Josifova 14 collaborations

None None 9 collaborations

Gavin Arno 3 collaborations

Mina Ryten 3 collaborations

Arianna Tucci 2 collaborations

Thiloka Ratnaike 2 collaborations

Wei Wei 2 collaborations

Kathleen Stirrups 2 collaborations

Eleanor Dewhurst 2 collaborations

Louise C Daugherty 2 collaborations

Rosaline Quinlivan 2 collaborations

Louise Izatt 2 collaborations

Michael A Simpson 2 collaborations

Siddharth Banka 2 collaborations

Sofia Douzgou 2 collaborations

Huw B Thomas 2 collaborations

Raymond T O'Keefe 2 collaborations

Anthony T Moore 2 collaborations

Rita Horvath 2 collaborations

Robert W Taylor 2 collaborations

Paul Brennan 2 collaborations

Patrick F Chinnery 2 collaborations

Henry Houlden 2 collaborations

Shamima Rahman 2 collaborations

John A Sayer 2 collaborations

Jenny C Taylor 2 collaborations

Andrew R Webster 2 collaborations

Andrew O M Wilkie 2 collaborations

F Lucy Raymond 2 collaborations

Mark Caulfield 2 collaborations

Emma Clement 2 collaborations

Julie Vogt 2 collaborations

Ingo Helbig 2 collaborations

Usha Kini 2 collaborations

Shane McKee 2 collaborations

A Siddiqui 1 collaboration

P Touska 1 collaboration

S E J Connor 1 collaboration

Damian Smedley 1 collaboration

Katherine R Smith 1 collaboration

Antonio Martin 1 collaboration

Ellen A Thomas 1 collaboration

Ellen M McDonagh 1 collaboration

Valentina Cipriani 1 collaboration

Jamie M Ellingford 1 collaboration

Jana Vandrovcova 1 collaboration

Georgia Chan 1 collaboration

Hywel J Williams 1 collaboration

Kristina Ibanez 1 collaboration

Loukas Moutsianas 1 collaboration

Matthias Wielscher 1 collaboration

Anna Need 1 collaboration

Michael R Barnes 1 collaboration

Letizia Vestito 1 collaboration

James Buchanan 1 collaboration

Sarah Wordsworth 1 collaboration

Sofie Ashford 1 collaboration

Karola Rehmström 1 collaboration

Emily Li 1 collaboration

Gavin Fuller 1 collaboration

Philip Twiss 1 collaboration

Olivera Spasic-Boskovic 1 collaboration

Sally Halsall 1 collaboration

R Andres Floto 1 collaboration

Kenneth Poole 1 collaboration

Annette Wagner 1 collaboration

Sarju G Mehta 1 collaboration

Mark Gurnell 1 collaboration

Nigel Burrows 1 collaboration

Roger James 1 collaboration

Christopher Penkett 1 collaboration

Stefan Gräf 1 collaboration

Rutendo Mapeta 1 collaboration

Mary Kasanicki 1 collaboration

Andrea Haworth 1 collaboration

Helen Savage 1 collaboration

Melanie Babcock 1 collaboration

Martin G Reese 1 collaboration

Mark Bale 1 collaboration

Emma Baple 1 collaboration

Christopher Boustred 1 collaboration

Helen Brittain 1 collaboration

Anna de Burca 1 collaboration

Marta Bleda 1 collaboration

Andrew Devereau 1 collaboration

Dina Halai 1 collaboration

Eik Haraldsdottir 1 collaboration

Zerin Hyder 1 collaboration

Dalia Kasperaviciute 1 collaboration

Christine Patch 1 collaboration

Dimitris Polychronopoulos 1 collaboration

Angela Matchan 1 collaboration

Razvan Sultana 1 collaboration

Ana L T Tavares 1 collaboration

Carolyn Tregidgo 1 collaboration

Clare Turnbull 1 collaboration

Matthew Welland 1 collaboration

Suzanne Wood 1 collaboration

Catherine Snow 1 collaboration

Eleanor Williams 1 collaboration

Sarah Leigh 1 collaboration

Rebecca E Foulger 1 collaboration

Olivia Niblock 1 collaboration

Ivone U S Leong 1 collaboration

Caroline F Wright 1 collaboration

Jim Davies 1 collaboration

Charles Crichton 1 collaboration

James Welch 1 collaboration

Kerrie Woods 1 collaboration

Lara Abulhoul 1 collaboration

Paul Aurora 1 collaboration

Detlef Bockenhauer 1 collaboration

Alexander Broomfield 1 collaboration

Maureen A Cleary 1 collaboration

Tanya Lam 1 collaboration

Mehul Dattani 1 collaboration

Emma Footitt 1 collaboration

Vijeya Ganesan 1 collaboration

Stephanie Grunewald 1 collaboration

Sandrine Compeyrot-Lacassagne 1 collaboration

Francesco Muntoni 1 collaboration

Clarissa Pilkington 1 collaboration

Nikhil Thapar 1 collaboration

Colin Wallis 1 collaboration

Lucy R Wedderburn 1 collaboration

Austen Worth 1 collaboration

Teofila Bueser 1 collaboration

Cecilia Compton 1 collaboration

Charu Deshpande 1 collaboration

Hiva Fassihi 1 collaboration

Eshika Haque 1 collaboration

Shehla Mohammed 1 collaboration

Leema Robert 1 collaboration

Sarah Rose 1 collaboration

Deborah Ruddy 1 collaboration

Robert Sarkany 1 collaboration

Genevieve Say 1 collaboration

Adam C Shaw 1 collaboration

Agata Wolejko 1 collaboration

Bishoy Habib 1 collaboration

Gavin Burns 1 collaboration

Sarah Hunter 1 collaboration

Russell J Grocock 1 collaboration

Sean J Humphray 1 collaboration

Peter N Robinson 1 collaboration

Melissa Haendel 1 collaboration

Jill Clayton-Smith 1 collaboration

Georgina Hall 1 collaboration

Michel Michaelides 1 collaboration

Sam Malka 1 collaboration

Nikolas Pontikos 1 collaboration

Andrew C Browning 1 collaboration

Volker Straub 1 collaboration

Gráinne S Gorman 1 collaboration

Richard Quinton 1 collaboration

Andrew M Schaefer 1 collaboration

Patrick Yu-Wai-Man 1 collaboration

Doug M Turnbull 1 collaboration

Robert McFarland 1 collaboration

Emer O'Connor 1 collaboration

Janice Yip 1 collaboration

Katrina Newland 1 collaboration

Huw R Morris 1 collaboration

James Polke 1 collaboration

Nicholas W Wood 1 collaboration

Carolyn Campbell 1 collaboration

Carme Camps 1 collaboration

Kate Gibson 1 collaboration

Nils Koelling 1 collaboration

Tracy Lester 1 collaboration

Andrea H Németh 1 collaboration

Claire Palles 1 collaboration

Smita Patel 1 collaboration

Noemi B A Roy 1 collaboration

Arjune Sen 1 collaboration

John Taylor 1 collaboration

Pilar Cacheiro 1 collaboration

Julius O Jacobsen 1 collaboration

Eleanor G Seaby 1 collaboration

Val Davison 1 collaboration

Lyn Chitty 1 collaboration

Angela Douglas 1 collaboration

Kikkeri Naresh 1 collaboration

Dom McMullan 1 collaboration

Sian Ellard 1 collaboration

I Karen Temple 1 collaboration

Andrew D Mumford 1 collaboration

Gill Wilson 1 collaboration

Phil Beales 1 collaboration

Maria Bitner-Glindzicz 1 collaboration

Graeme Black 1 collaboration

John R Bradley 1 collaboration

John Burn 1 collaboration

Perry Elliott 1 collaboration

Frances Flinter 1 collaboration

Melita Irving 1 collaboration

William Newman 1 collaboration

Willem H Ouwehand 1 collaboration

John Chisholm 1 collaboration

Sue Hill 1 collaboration

David Bentley 1 collaboration

Richard H Scott 1 collaboration

Tom Fowler 1 collaboration

Augusto Rendon 1 collaboration

Laura J Grange 1 collaboration

John J Reynolds 1 collaboration

Farid Ullah 1 collaboration

Bertrand Isidor 1 collaboration

Robert F Shearer 1 collaboration

Xenia Latypova 1 collaboration

Ryan M Baxley 1 collaboration

Antony W Oliver 1 collaboration

Anil Ganesh 1 collaboration

Sophie L Cooke 1 collaboration

Satpal S Jhujh 1 collaboration

Gavin S McNee 1 collaboration

Robert Hollingworth 1 collaboration

Martin R Higgs 1 collaboration

Toyoaki Natsume 1 collaboration

Tahir Khan 1 collaboration

Gabriel Á Martos-Moreno 1 collaboration

Sharon Chupp 1 collaboration

Christopher G Mathew 1 collaboration

David Parry 1 collaboration

Nahid Nahavandi 1 collaboration

Zafer Yüksel 1 collaboration

Mojgan Drasdo 1 collaboration

Anja Kron 1 collaboration

Petra Vogt 1 collaboration

Annemarie Jonasson 1 collaboration

Saad Ahmed Seth 1 collaboration

Claudia Gonzaga-Jauregui 1 collaboration

Karlla W Brigatti 1 collaboration

Alexander P A Stegmann 1 collaboration

Masato Kanemaki 1 collaboration

Yuri Uchiyama 1 collaboration

Yukiko Oh 1 collaboration

Akira Morimoto 1 collaboration

Hitoshi Osaka 1 collaboration

Zineb Ammous 1 collaboration

Jesús Argente 1 collaboration

Naomichi Matsumoto 1 collaboration

Constance T R M Stumpel 1 collaboration

Alexander M R Taylor 1 collaboration

Andrew P Jackson 1 collaboration

Anja-Katrin Bielinsky 1 collaboration

Niels Mailand 1 collaboration

Cedric Le Caignec 1 collaboration

Erica E Davis 1 collaboration

Grant S Stewart 1 collaboration

Simone Martinelli 1 collaboration

Luca Pannone 1 collaboration

Christina Lissewski 1 collaboration

Julia Brinkmann 1 collaboration

Elisabetta Flex 1 collaboration

Denny Schanze 1 collaboration

Paolo Calligari 1 collaboration

Massimiliano Anselmi 1 collaboration

Francesca Pantaleoni 1 collaboration

Viviana Claudia Canale 1 collaboration

Francesca Clementina Radio 1 collaboration

Adonis Ioannides 1 collaboration

Nils Rahner 1 collaboration

Ina Schanze 1 collaboration

Gianfranco Bocchinfuso 1 collaboration

Lorenzo Stella 1 collaboration

Marco Tartaglia 1 collaboration

Martin Zenker 1 collaboration

Katherine R Schon 1 collaboration

Claudia Calabrese 1 collaboration

Kristina Ibañez 1 collaboration

Robert D S Pitceathly 1 collaboration

Enrico Bugiardini 1 collaboration

Michael G Hanna 1 collaboration

Emma Ashton 1 collaboration

Carl Fratter 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

Natalie Canham 1 collaboration

Martina Riva 1 collaboration

Sofia Ferreira 1 collaboration

Kotaro Hayashi 1 collaboration

Yoann Saillour 1 collaboration

Vera P Medvedeva 1 collaboration

Takao Honda 1 collaboration

Kanehiro Hayashi 1 collaboration

Claire Altersitz 1 collaboration

Shahad Albadri 1 collaboration

Marion Rosello 1 collaboration

Julie Dang 1 collaboration

Malo Serafini 1 collaboration

Frédéric Causeret 1 collaboration

Olivia J Henry 1 collaboration

Charles-Joris Roux 1 collaboration

Céline Bellesme 1 collaboration

Elena Freri 1 collaboration

Elena Parrini 1 collaboration

Renzo Guerrini 1 collaboration

Filippo Del Bene 1 collaboration

Kazunori Nakajima 1 collaboration

Nadia Bahi-Buisson 1 collaboration

Alessandra Pierani 1 collaboration

S Polubothu 1 collaboration

N McGuire 1 collaboration

L Al-Olabi 1 collaboration

W Baird 1 collaboration

N Bulstrode 1 collaboration

J Chalker 1 collaboration

D Lomas 1 collaboration

J O'Hara 1 collaboration

J Ong 1 collaboration

D Rampling 1 collaboration

P Stadnik 1 collaboration

A Thomas 1 collaboration

E Wedgeworth 1 collaboration

N J Sebire 1 collaboration

V A Kinsler 1 collaboration

A Rachel Moore 1 collaboration

Jing Yu 1 collaboration

Yang Pei 1 collaboration

Emily W Y Cheng 1 collaboration

Ana Lisa Taylor Tavares 1 collaboration

Woolf T Walker 1 collaboration

N Simon Thomas 1 collaboration

Arveen Kamath 1 collaboration

Rita Ibitoye 1 collaboration

Anna Wilsdon 1 collaboration

Alison Ross 1 collaboration

Alistair D Calder 1 collaboration

Amaka C Offiah 1 collaboration

Alistair T Pagnamenta 1 collaboration

Alba Sanchis-Juan 1 collaboration

Karyn Megy 1 collaboration

Jonathan Stephens 1 collaboration

Camila Armirola Ricaurte 1 collaboration

Kayyi Low 1 collaboration

Courtney E French 1 collaboration

Detelina Grozeva 1 collaboration

Marie Erwood 1 collaboration

Amy McTague 1 collaboration

Christopher J Penkett 1 collaboration

Olga Shamardina 1 collaboration

Salih Tuna 1 collaboration

Nicholas Gleadall 1 collaboration

Sofia T Duarte 1 collaboration

Antonio Hedrera-Fernández 1 collaboration

Gautam Ambegaonkar 1 collaboration

Manali Chitre 1 collaboration

Manju A Kurian 1 collaboration

Alasdair Parker 1 collaboration

Julia Rankin 1 collaboration

Evan Reid 1 collaboration

Emma Wakeling 1 collaboration

Evangeline Wassmer 1 collaboration

C Geoffrey Woods 1 collaboration

Keren J Carss 1 collaboration

Jit Kai Tan 1 collaboration

Moin D Mohamed 1 collaboration

Omar A Mahroo 1 collaboration

Allan Bayat 1 collaboration

Alexej Knaus 1 collaboration

Annika Wollenberg Juul 1 collaboration

Dejan Dukic 1 collaboration

Elena Gardella 1 collaboration

Agnieszka Charzewska 1 collaboration

Helle Hjalgrim 1 collaboration

Dorota Hoffman-Zacharska 1 collaboration

Denise Horn 1 collaboration

Rachel Horton 1 collaboration

Jane A Hurst 1 collaboration

Line H G Larsen 1 collaboration

Karine Lascelles 1 collaboration

Ewa Obersztyn 1 collaboration

Alistair Pagnamenta 1 collaboration

Deb K Pal 1 collaboration

Manuela Pendziwiat 1 collaboration

Jenny Taylor 1 collaboration

Yvonne Weber 1 collaboration

Peter M Krawitz 1 collaboration

Rikke S Møller 1 collaboration

Kathleen A Williamson 1 collaboration

H Nikki Hall 1 collaboration

Liusaidh J Owen 1 collaboration

Benjamin J Livesey 1 collaboration

Isabel M Hanson 1 collaboration

G G W Adams 1 collaboration

Simon Bodek 1 collaboration

Patrick Calvas 1 collaboration

Bruce Castle 1 collaboration

Michael Clarke 1 collaboration

Alexander T Deng 1 collaboration

Patrick Edery 1 collaboration

Richard Fisher 1 collaboration

Gabriele Gillessen-Kaesbach 1 collaboration

Elise Heon 1 collaboration

Jane Hurst 1 collaboration

Birgit Lorenz 1 collaboration

Francoise Meire 1 collaboration

Michael Parker 1 collaboration

Charlotte M Reiff 1 collaboration

Jay Self 1 collaboration

Edward S Tobias 1 collaboration

Joke B G M Verheij 1 collaboration

Marjolaine Willems 1 collaboration

Denise Williams 1 collaboration

Veronica van Heyningen 1 collaboration

Joseph A Marsh 1 collaboration

David R FitzPatrick 1 collaboration

Philip J Ostrowski 1 collaboration

Anna Zachariou 1 collaboration

Chey Loveday 1 collaboration

Ana Beleza-Meireles 1 collaboration

Marta Bertoli 1 collaboration

John Dean 1 collaboration

Andrew G L Douglas 1 collaboration

Ian Ellis 1 collaboration

Alison Foster 1 collaboration

John M Graham 1 collaboration

Jennifer Hague 1 collaboration

Yvonne Hilhorst-Hofstee 1 collaboration

Mariette Hoffer 1 collaboration

Diana Johnson 1 collaboration

Sarina G Kant 1 collaboration

Katherine Lachlan 1 collaboration

Wayne Lam 1 collaboration

Melissa Lees 1 collaboration

Sally Lynch 1 collaboration

Silvia Maitz 1 collaboration

Kay Metcalfe 1 collaboration

Katherine Nathanson 1 collaboration

Charlotte W Ockeloen 1 collaboration

Michael J Parker 1 collaboration

Tyler M Pierson 1 collaboration

Elisa Rahikkala 1 collaboration

Pedro A Sanchez-Lara 1 collaboration

Alice Spano 1 collaboration

Lionel Van Maldergem 1 collaboration

Trevor Cole 1 collaboration

Katrina Tatton-Brown 1 collaboration

Aishin Lok 1 collaboration

Miguel A Fernandez-Garcia 1 collaboration

Courtney French 1 collaboration

Robert MacFarland 1 collaboration

Istvan Bodi 1 collaboration

Michael Champion 1 collaboration

Frances Lucy Raymond 1 collaboration

Arcangela Iuso 1 collaboration

Heinz Jungbluth 1 collaboration

Anna Milan 1 collaboration

Rahul R Singh 1 collaboration

Lauren Jeffries 1 collaboration

Emily K Mis 1 collaboration

Kirsty McWalter 1 collaboration

Sandra Donkervoort 1 collaboration

Nina N Brodsky 1 collaboration

Jean-Marie Carpier 1 collaboration

Weizhen Ji 1 collaboration

Cristian Ionita 1 collaboration

Bhaskar Roy 1 collaboration

Jon S Morrow 1 collaboration

Armine Darbinyan 1 collaboration

Krishna Iyer 1 collaboration

Ritu B Aul 1 collaboration

Katherine R Chao 1 collaboration

Laura Cobbold 1 collaboration

Stacey Cohen 1 collaboration

Helena M Custodio 1 collaboration

Margaret Drummond-Borg 1 collaboration

Frances Elmslie 1 collaboration

Erika Finanger 1 collaboration

Bryan E Hainline 1 collaboration

Stacy Hewson 1 collaboration

Ying Hu 1 collaboration

Adam Jackson 1 collaboration

Monica Konstantino 1 collaboration

Meganne E Leach 1 collaboration

Bryan Mak 1 collaboration

David McCormick 1 collaboration

Elisabeth McGee 1 collaboration

Stanley Nelson 1 collaboration

Joanne Nguyen 1 collaboration

Kimberly Nugent 1 collaboration

Lucy Ortega 1 collaboration

Howard P Goodkin 1 collaboration

Elizabeth Roeder 1 collaboration

Sani Roy 1 collaboration

Katie Sapp 1 collaboration

Dimah Saade 1 collaboration

Sanjay M Sisodiya 1 collaboration

Karen Stals 1 collaboration

Shelley Towner 1 collaboration

William Wilson 1 collaboration

Mustafa K Khokha 1 collaboration

Carsten G Bönnemann 1 collaboration

Carrie L Lucas 1 collaboration

Saquib A Lakhani 1 collaboration

Alfredo Dueñas Rey 1 collaboration

Marta Del Pozo Valero 1 collaboration

Manon Bouckaert 1 collaboration

Katherine A Wood 1 collaboration

Filip Van den Broeck 1 collaboration

Malena Daich Varela 1 collaboration

Mattias Van Heetvelde 1 collaboration

Marieke De Bruyne 1 collaboration

Stijn Van de Sompele 1 collaboration

Miriam Bauwens 1 collaboration

Hanne Lenaerts 1 collaboration

Quinten Mahieu 1 collaboration

Carlo Rivolta 1 collaboration

Jamie Ellingford 1 collaboration

Carmen Ayuso 1 collaboration

Julie De Zaeytijd 1 collaboration

Bart P Leroy 1 collaboration

Elfride De Baere 1 collaboration

Frauke Coppieters 1 collaboration

Affiliations

Publications (16)

Persistent Trigeminal Artery: A Novel Imaging Finding in CHARGE Syndrome.

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy.

Pathogenic PTPN11 variants involving the poly-glutamine Gln

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

De novo monoallelic Reelin missense variants act in a dominant-negative manner causing neuronal migration disorders.

Does the gene matter? Genotype-phenotype and genotype-outcome associations in congenital melanocytic naevi.

Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.

Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.

Unusual OCT findings in a patient with CABP4-associated cone-rod synaptic disorder.

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics.

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.

The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.

Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS-related disorders.

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.

Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.

Réseau de co-auteurs