Jan Liebelt

Tristan Hardy 3 collaborations

Lesley McGregor 3 collaborations

Martin B Delatycki 3 collaborations

J Liebelt 2 collaborations

Bertrand Isidor 2 collaborations

Patrick Yap 2 collaborations

Annick Toutain 2 collaborations

Jade Caruana 2 collaborations

Julie McGaughran 2 collaborations

Kirsten Boggs 2 collaborations

Nicholas Pachter 2 collaborations

Rachael Casella 2 collaborations

Royston Ong 2 collaborations

Samantha Edwards 2 collaborations

Sarah Righetti 2 collaborations

Ainsley J Newson 2 collaborations

Edwin P Kirk 2 collaborations

Nigel G Laing 2 collaborations

Christopher P Barnett 2 collaborations

Karen W Gripp 2 collaborations

Eric Haan 2 collaborations

Andreas Dufke 2 collaborations

Marie Shaw 2 collaborations

Jozef Gecz 2 collaborations

Jared Liebelt 2 collaborations

Tony Roscioli 2 collaborations

None None 2 collaborations

Meysam Rezaei 1 collaboration

Marnie Winter 1 collaboration

Deirdre Zander-Fox 1 collaboration

Clare Whitehead 1 collaboration

Majid Ebrahimi Warkiani 1 collaboration

Benjamin Thierry 1 collaboration

Marcello Scala 1 collaboration

Nathalie Drouot 1 collaboration

Suzanna C MacLennan 1 collaboration

Marja W Wessels 1 collaboration

Magdalena Krygier 1 collaboration

Lisa Pavinato 1 collaboration

Aida Telegrafi 1 collaboration

Stella A de Man 1 collaboration

Marjon van Slegtenhorst 1 collaboration

Michele Iacomino 1 collaboration

Francesca Madia 1 collaboration

Paolo Scudieri 1 collaboration

Paolo Uva 1 collaboration

Thea Giacomini 1 collaboration

Giulia Nobile 1 collaboration

Maria Margherita Mancardi 1 collaboration

Ganna Balagura 1 collaboration

Giovanni Battista Galloni 1 collaboration

Alberto Verrotti 1 collaboration

Muhammad Umair 1 collaboration

Amjad Khan 1 collaboration

Miriam Schmidts 1 collaboration

Thorsten Langer 1 collaboration

Alfredo Brusco 1 collaboration

Beata S Lipska-Ziętkiewicz 1 collaboration

Jasper J Saris 1 collaboration

Nicolas Charlet-Berguerand 1 collaboration

Federico Zara 1 collaboration

Pasquale Striano 1 collaboration

Amélie Piton 1 collaboration

P Weston 1 collaboration

D Taranath 1 collaboration

N Smith 1 collaboration

Futoshi Sekiguchi 1 collaboration

Yoshinori Tsurusaki 1 collaboration

Nobuhiko Okamoto 1 collaboration

Keng Wee Teik 1 collaboration

Seiji Mizuno 1 collaboration

Hiroshi Suzumura 1 collaboration

Winnie Peitee Ong 1 collaboration

Muzhirah Haniffa 1 collaboration

Susan M White 1 collaboration

Mari Matsuo 1 collaboration

Kayoko Saito 1 collaboration

Shubha Phadke 1 collaboration

Tomoki Kosho 1 collaboration

Manisha Goyal 1 collaboration

Lorne A Clarke 1 collaboration

Rani Sachdev 1 collaboration

George McGillivray 1 collaboration

Richard J Leventer 1 collaboration

Chirag Patel 1 collaboration

Takanori Yamagata 1 collaboration

Hitoshi Osaka 1 collaboration

Yoshiya Hisaeda 1 collaboration

Hirofumi Ohashi 1 collaboration

Kenji Shimizu 1 collaboration

Keisuke Nagasaki 1 collaboration

Junpei Hamada 1 collaboration

Sumito Dateki 1 collaboration

Takashi Sato 1 collaboration

Yasutsugu Chinen 1 collaboration

Tomonari Awaya 1 collaboration

Takeo Kato 1 collaboration

Kougoro Iwanaga 1 collaboration

Masahiko Kawai 1 collaboration

Takashi Matsuoka 1 collaboration

Yoshikazu Shimoji 1 collaboration

Tiong Yang Tan 1 collaboration

Seema Kapoor 1 collaboration

Nerine Gregersen 1 collaboration

Massimiliano Rossi 1 collaboration

Mathieu Marie-Laure 1 collaboration

Kimihiko Oishi 1 collaboration

Lakshmi Mehta 1 collaboration

Greta Gillies 1 collaboration

Paul J Lockhart 1 collaboration

Kate Pope 1 collaboration

Anju Shukla 1 collaboration

Katta Mohan Girisha 1 collaboration

Ghada M H Abdel-Salam 1 collaboration

David Mowat 1 collaboration

David Coman 1 collaboration

Ok Hwa Kim 1 collaboration

Marie-Pierre Cordier 1 collaboration

Kate Gibson 1 collaboration

Jeff Milunsky 1 collaboration

Helen Cox 1 collaboration

Salima El Chehadeh 1 collaboration

Ken Saida 1 collaboration

Hiromi Aoi 1 collaboration

Gaku Minase 1 collaboration

Naomi Tsuchida 1 collaboration

Kazuhiro Iwama 1 collaboration

Yuri Uchiyama 1 collaboration

Toshifumi Suzuki 1 collaboration

Kohei Hamanaka 1 collaboration

Yoshiteru Azuma 1 collaboration

Atsushi Fujita 1 collaboration

Eri Imagawa 1 collaboration

Eriko Koshimizu 1 collaboration

Atsushi Takata 1 collaboration

Satomi Mitsuhashi 1 collaboration

Satoko Miyatake 1 collaboration

Takeshi Mizuguchi 1 collaboration

Noriko Miyake 1 collaboration

Naomichi Matsumoto 1 collaboration

P A Mulder 1 collaboration

I D C van Balkom 1 collaboration

A M Landlust 1 collaboration

M Priolo 1 collaboration

L A Menke 1 collaboration

I H Acero 1 collaboration

F S Alkuraya 1 collaboration

P Arias 1 collaboration

L Bernardini 1 collaboration

E K Bijlsma 1 collaboration

T Cole 1 collaboration

C Coubes 1 collaboration

I Dapia 1 collaboration

S Davies 1 collaboration

N Di Donato 1 collaboration

N H Elcioglu 1 collaboration

J A Fahrner 1 collaboration

A Foster 1 collaboration

N G González 1 collaboration

I Huber 1 collaboration

M Iascone 1 collaboration

A-S Kaiser 1 collaboration

A Kamath 1 collaboration

K Kooblall 1 collaboration

P Lapunzina 1 collaboration

S A Lynch 1 collaboration

S M Maas 1 collaboration

C Mammì 1 collaboration

I B Mathijssen 1 collaboration

S McKee 1 collaboration

G M Mirzaa 1 collaboration

T Montgomery 1 collaboration

D Neubauer 1 collaboration

T E Neumann 1 collaboration

L Pintomalli 1 collaboration

M A Pisanti 1 collaboration

A S Plomp 1 collaboration

S Price 1 collaboration

C Salter 1 collaboration

F Santos-Simarro 1 collaboration

P Sarda 1 collaboration

D Schanze 1 collaboration

M Segovia 1 collaboration

C Shaw-Smith 1 collaboration

S Smithson 1 collaboration

M Suri 1 collaboration

K Tatton-Brown 1 collaboration

J Tenorio 1 collaboration

R V Thakker 1 collaboration

R M Valdez 1 collaboration

A Van Haeringen 1 collaboration

J M Van Hagen 1 collaboration

M Zenker 1 collaboration

M Zollino 1 collaboration

W W Dunn 1 collaboration

S Piening 1 collaboration

R C Hennekam 1 collaboration

Alison D Archibald 1 collaboration

Belinda J McClaren 1 collaboration

Erin Tutty 1 collaboration

Emily A King 1 collaboration

Jane L Halliday 1 collaboration

Stephanie Best 1 collaboration

Anaita Kanga-Parabia 1 collaboration

Bruce H Bennetts 1 collaboration

Corrina C Cliffe 1 collaboration

Evanthia O Madelli 1 collaboration

Gladys Ho 1 collaboration

Janet C Long 1 collaboration

Jeffrey Braithwaite 1 collaboration

Jillian Kennedy 1 collaboration

John Massie 1 collaboration

Jon D Emery 1 collaboration

Justine E Marum 1 collaboration

Kristine Barlow-Stewart 1 collaboration

Leslie Burnett 1 collaboration

Lisa Dive 1 collaboration

Lucinda Freeman 1 collaboration

Mark R Davis 1 collaboration

Martin J Downes 1 collaboration

Mathew Wallis 1 collaboration

Monica M Ferrie 1 collaboration

Paul A Scuffham 1 collaboration

Richard J N Allcock 1 collaboration

Sebastian Lunke 1 collaboration

Sharon Lewis 1 collaboration

Susan P Walker 1 collaboration

Tiffany F Boughtwood 1 collaboration

None The Mackenzie's Mission Study Team 1 collaboration

Alice Rogers 1 collaboration

Lucas De Jong 1 collaboration

Wendy Waters 1 collaboration

Lesley H Rawlings 1 collaboration

Keryn Simons 1 collaboration

Song Gao 1 collaboration

Julien Soubrier 1 collaboration

Rosalie Kenyon 1 collaboration

Ming Lin 1 collaboration

Rob King 1 collaboration

David M Lawrence 1 collaboration

Peter Muller 1 collaboration

Shannon Leblanc 1 collaboration

Suzanne C E H Sallevelt 1 collaboration

Tristan S E Hardy 1 collaboration

Janice M Fletcher 1 collaboration

Hamish S Scott 1 collaboration

Abhi Kulkarni 1 collaboration

Karin S Kassahn 1 collaboration

Magdalena Koczkowska 1 collaboration

Tom Callens 1 collaboration

Yunjia Chen 1 collaboration

Alicia Gomes 1 collaboration

Alesha D Hicks 1 collaboration

Angela Sharp 1 collaboration

Eric Johns 1 collaboration

Kim Armfield Uhas 1 collaboration

Linlea Armstrong 1 collaboration

Katherine Armstrong Bosanko 1 collaboration

Dusica Babovic-Vuksanovic 1 collaboration

Laura Baker 1 collaboration

Donald G Basel 1 collaboration

Mario Bengala 1 collaboration

James T Bennett 1 collaboration

Chelsea Chambers 1 collaboration

Lola K Clarkson 1 collaboration

Maurizio Clementi 1 collaboration

Fanny M Cortés 1 collaboration

Mitch Cunningham 1 collaboration

M Daniela D'Agostino 1 collaboration

Maria C Digilio 1 collaboration

Laura Dosa 1 collaboration

Silvia Esposito 1 collaboration

Stephanie Fox 1 collaboration

Mary-Louise Freckmann 1 collaboration

Christine Fauth 1 collaboration

Teresa Giugliano 1 collaboration

Sandra Giustini 1 collaboration

Allison Goetsch 1 collaboration

Yael Goldberg 1 collaboration

Robert S Greenwood 1 collaboration

Cristin Griffis 1 collaboration

Punita Gupta 1 collaboration

Rachel K Hachen 1 collaboration

Tamara L Haygarth 1 collaboration

Concepción Hernández-Chico 1 collaboration

Katelyn Hodge 1 collaboration

Robert J Hopkin 1 collaboration

Louanne Hudgins 1 collaboration

Sandra Janssens 1 collaboration

Kory Keller 1 collaboration

Geraldine Kelly-Mancuso 1 collaboration

Aaina Kochhar 1 collaboration

Bruce R Korf 1 collaboration

Andrea M Lewis 1 collaboration

Angie Lichty 1 collaboration

Robert H Listernick 1 collaboration

Michael J Lyons 1 collaboration

Isabelle Maystadt 1 collaboration

Mayra Martinez Ojeda 1 collaboration

Carey McDougall 1 collaboration

Lesley K McGregor 1 collaboration

Daniela Melis 1 collaboration

Nancy Mendelsohn 1 collaboration

Malgorzata J M Nowaczyk 1 collaboration

June Ortenberg 1 collaboration

Karin Panzer 1 collaboration

John G Pappas 1 collaboration

Mary Ella Pierpont 1 collaboration

Giulio Piluso 1 collaboration

Valentina Pinna 1 collaboration

Eniko K Pivnick 1 collaboration

Dinel A Pond 1 collaboration

Cynthia M Powell 1 collaboration

Caleb Rogers 1 collaboration

Noa Ruhrman Shahar 1 collaboration

S Lane Rutledge 1 collaboration

Veronica Saletti 1 collaboration

Sarah A Sandaradura 1 collaboration

Claudia Santoro 1 collaboration

Ulrich A Schatz 1 collaboration

Allison Schreiber 1 collaboration

Daryl A Scott 1 collaboration

Elizabeth A Sellars 1 collaboration

Ruth Sheffer 1 collaboration

Elizabeth Siqveland 1 collaboration

John M Slopis 1 collaboration

Rosemarie Smith 1 collaboration

Alberto Spalice 1 collaboration

David W Stockton 1 collaboration

Haley Streff 1 collaboration

Amy Theos 1 collaboration

Gail E Tomlinson 1 collaboration

Grace Tran 1 collaboration

Pamela L Trapane 1 collaboration

Eva Trevisson 1 collaboration

Nicole J Ullrich 1 collaboration

Jenneke Van den Ende 1 collaboration

Samantha A Schrier Vergano 1 collaboration

Stephanie E Wallace 1 collaboration

Michael F Wangler 1 collaboration

David D Weaver 1 collaboration

Kaleb H Yohay 1 collaboration

Elaine Zackai 1 collaboration

Jonathan Zonana 1 collaboration

Vickie Zurcher 1 collaboration

Kathleen B M Claes 1 collaboration

Marica Eoli 1 collaboration

Yolanda Martin 1 collaboration

Katharina Wimmer 1 collaboration

Alessandro De Luca 1 collaboration

Eric Legius 1 collaboration

Ludwine M Messiaen 1 collaboration

Suzanna G M Frints 1 collaboration

Aysegul Ozanturk 1 collaboration

Germán Rodríguez Criado 1 collaboration

Ute Grasshoff 1 collaboration

Bas de Hoon 1 collaboration

Michael Field 1 collaboration

Sylvie Manouvrier-Hanu 1 collaboration

Scott E Hickey 1 collaboration

Molka Kammoun 1 collaboration

Claudia Bauer 1 collaboration

Christopher Schroeder 1 collaboration

Theresa Mihalic Mosher 1 collaboration

Benjamin J Kelly 1 collaboration

Peter White 1 collaboration

Eveline Rentmeester 1 collaboration

Sungjin Moon 1 collaboration

Daniel C Koboldt 1 collaboration

Kees E P van Roozendaal 1 collaboration

Hao Hu 1 collaboration

Stefan A Haas 1 collaboration

Hans-Hilger Ropers 1 collaboration

Lucinda Murray 1 collaboration

Renee Carroll 1 collaboration

Kathryn Friend 1 collaboration

Lynne Hobson 1 collaboration

Marjan De Rademaeker 1 collaboration

Joep Geraedts 1 collaboration

Jean-Pierre Fryns 1 collaboration

Joris Vermeesch 1 collaboration

Martine Raynaud 1 collaboration

Olaf Riess 1 collaboration

Joost Gribnau 1 collaboration

Nicholas Katsanis 1 collaboration

Koen Devriendt 1 collaboration

Peter Bauer 1 collaboration

Christelle Golzio 1 collaboration

Cristina Gontan 1 collaboration

Vera M Kalscheuer 1 collaboration

Ari Friedman 1 collaboration

Jeremy Miles 1 collaboration

Panagiota Christia 1 collaboration

Krysthel Engstrom 1 collaboration

Rosy Thachil 1 collaboration

Michael Grushko 1 collaboration

Robert T Faillace 1 collaboration

Ben Kamien 1 collaboration

David J Amor 1 collaboration

Madhura Bakshi 1 collaboration

Clara W T Chung 1 collaboration

Alison Colley 1 collaboration

Robyn V Jamieson 1 collaboration

Alan Ma 1 collaboration

Sulekha Rajagopalan 1 collaboration

Anja Ravine 1 collaboration

Meredith Wilson 1 collaboration

Mark Davis 1 collaboration

Alison Archibald 1 collaboration

Oscar Garza Ovalle 1 collaboration

Adrian Garza Ovalle 1 collaboration

Amy Kaufman 1 collaboration

Jay Alexander 1 collaboration

Mark Metzl 1 collaboration

Emmanuelle Souzeau 1 collaboration

Owen M Siggs 1 collaboration

Francesca Pasutto 1 collaboration

Lachlan S W Knight 1 collaboration

Luis A Perez-Jurado 1 collaboration

Shannon Le Blanc 1 collaboration

Jamie E Craig 1 collaboration

Sandra Whalen 1 collaboration

Cyril Mignot 1 collaboration

Delphine Héron 1 collaboration

Sandra Chantot Bastaraud 1 collaboration

Cecile Cieuta Walti 1 collaboration

Frances Elmslie 1 collaboration

Jane Hurst 1 collaboration

Elisabeth Forsythe 1 collaboration

Brian Kirmse 1 collaboration

Jillian Ozmore 1 collaboration

Alessandro Mauro Spinelli 1 collaboration

Olga Calabrese 1 collaboration

Thierry Billette de Villemeur 1 collaboration

Anne Claude Tabet 1 collaboration

Jonathan Levy 1 collaboration

Agnes Guet 1 collaboration

Manoëlle Kossorotoff 1 collaboration

Benjamin Kamien 1 collaboration

Jenny Morton 1 collaboration

Anne McCabe 1 collaboration

Elise Brischoux-Boucher 1 collaboration

Annick Raas-Rothschild 1 collaboration

Antonella Pini 1 collaboration

Renée Carroll 1 collaboration

Jessica N Hartley 1 collaboration

Patrick Frosk 1 collaboration

Anne Slavotinek 1 collaboration

Kristen Truxal 1 collaboration

Carroll Jennifer 1 collaboration

Annelies Dheedene 1 collaboration

Hong Cui 1 collaboration

Vishal Kumar 1 collaboration

Glen Thomson 1 collaboration

Florence Riccardi 1 collaboration

Laurent Villard 1 collaboration

Dmitrijs Rots 1 collaboration

Taryn E Jakub 1 collaboration

Crystal Keung 1 collaboration

Adam Jackson 1 collaboration

Siddharth Banka 1 collaboration

Rolph Pfundt 1 collaboration

Bert B A de Vries 1 collaboration

Richard H van Jaarsveld 1 collaboration

Saskia M J Hopman 1 collaboration

Ellen van Binsbergen 1 collaboration

Irene Valenzuela 1 collaboration

Maja Hempel 1 collaboration

Tatjana Bierhals 1 collaboration

Fanny Kortüm 1 collaboration

Francois Lecoquierre 1 collaboration

Alice Goldenberg 1 collaboration

Jens Michael Hertz 1 collaboration

Charlotte Brasch Andersen 1 collaboration

Maria Kibæk 1 collaboration

Eloise J Prijoles 1 collaboration

Roger E Stevenson 1 collaboration

David B Everman 1 collaboration

Wesley G Patterson 1 collaboration

Linyan Meng 1 collaboration

Charul Gijavanekar 1 collaboration

Karl De Dios 1 collaboration

Shenela Lakhani 1 collaboration

Tess Levy 1 collaboration

Matias Wagner 1 collaboration

Dagmar Wieczorek 1 collaboration

Paul J Benke 1 collaboration

María Soledad Lopez Garcia 1 collaboration

Renee Perrier 1 collaboration

Sergio B Sousa 1 collaboration

Pedro M Almeida 1 collaboration

Maria José Simões 1 collaboration

Wallid Deb 1 collaboration

Andrew A Schmanski 1 collaboration

Omar Abdul-Rahman 1 collaboration

Christophe Philippe 1 collaboration

Ange-Line Bruel 1 collaboration

Laurence Faivre 1 collaboration

Antonio Vitobello 1 collaboration

Christel Thauvin 1 collaboration

Jeroen J Smits 1 collaboration

Livia Garavelli 1 collaboration

Stefano G Caraffi 1 collaboration

Francesca Peluso 1 collaboration

Laura Davis-Keppen 1 collaboration

Dylan Platt 1 collaboration

Erin Royer 1 collaboration

Lisette Leeuwen 1 collaboration

Margje Sinnema 1 collaboration

Alexander P A Stegmann 1 collaboration

Constance T R M Stumpel 1 collaboration

George E Tiller 1 collaboration

Daniëlle G M Bosch 1 collaboration

Stephanus T Potgieter 1 collaboration

Shelagh Joss 1 collaboration

Miranda Splitt 1 collaboration

Simon Holden 1 collaboration

Matina Prapa 1 collaboration

Nicola Foulds 1 collaboration

Sofia Douzgou 1 collaboration

Kaija Puura 1 collaboration

Regina Waltes 1 collaboration

Andreas G Chiocchetti 1 collaboration

Christine M Freitag 1 collaboration

F Kyle Satterstrom 1 collaboration

Silvia De Rubeis 1 collaboration

Joseph Buxbaum 1 collaboration

Bruce D Gelb 1 collaboration

Aleksic Branko 1 collaboration

Itaru Kushima 1 collaboration

Jennifer Howe 1 collaboration

Stephen W Scherer 1 collaboration

Alessia Arado 1 collaboration

Chiara Baldo 1 collaboration

Olivier Patat 1 collaboration

Demeer Bénédicte 1 collaboration

Diego Lopergolo 1 collaboration

Filippo M Santorelli 1 collaboration

Tobias B Haack 1 collaboration

Miriam Bertrand 1 collaboration

Ruth J Falb 1 collaboration

Angelika Rieß 1 collaboration

Peter Krieg 1 collaboration

Stephanie Spranger 1 collaboration

Maria Francesca Bedeschi 1 collaboration

Maria Iascone 1 collaboration

Sarah Josephi-Taylor 1 collaboration

Michael F Buckley 1 collaboration

Aditi I Dagli 1 collaboration

Emmelien Aten 1 collaboration

Anna C E Hurst 1 collaboration

Alesha Hicks 1 collaboration

Mohnish Suri 1 collaboration

Ermal Aliu 1 collaboration

Sunil Naik 1 collaboration

Richard Sidlow 1 collaboration

Juliette Coursimault 1 collaboration

Gaël Nicolas 1 collaboration

Hanna Küpper 1 collaboration

Florence Petit 1 collaboration

Veyan Ibrahim 1 collaboration

Deniz Top 1 collaboration

Francesca Di Cara 1 collaboration

Raymond J Louie 1 collaboration

Elliot Stolerman 1 collaboration

Han G Brunner 1 collaboration

Lisenka E L M Vissers 1 collaboration

Jamie M Kramer 1 collaboration

Tjitske Kleefstra 1 collaboration

Affiliations

Publications (15)

A Reappraisal of Circulating Fetal Cell Noninvasive Prenatal Testing.

De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.

A clinical and electrophysiological case study of a child with a novel frame shift mutation in the CACNA1F and missense variation of RIMS1 genes.

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.

The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.

Extending the new era of genomic testing into pregnancy management: A proposed model for Australian prenatal services.

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.

QT Dispersion and Drug-Induced Torsade de Pointes.

Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission").

Utility of a Leadless Pacemaker as a Backup to Left Ventricle-only Pacing in a Patient with Prior Device-related Severe Tricuspid Regurgitation.

Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants.

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Réseau de co-auteurs