Julie Harvengt

Affiliations

Department of Medical Genetics, CHU & University of Liège, Gembloux, Belgium.

Publications (8)

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.

Human mutation

Avec: Gillian I Rice , Sehoon Park , Francesco Gavazzi , Laura A Adang , Loveline A Ayuk , Lien Van Eyck , Luis Seabra , Christophe Barrea , Roberta Battini , Alexandre Belot , Stefan Berg , Thierry Billette de Villemeur , Annette E Bley , Lubov Blumkin , Odile Boespflug-Tanguy , Tracy A Briggs , Elise Brimble , Russell C Dale , Niklas Darin , François-Guillaume Debray , Valentina De Giorgis , Jonas Denecke , Diane Doummar , Gunilla Drake Af Hagelsrum , Despina Eleftheriou , Margherita Estienne , Elisa Fazzi , François Feillet , Jessica Galli , Nicholas Hartog , Bénédicte Heron , Delphine Heron , Diedre A Kelly , Dorit Lev , Virginie Levrat , John H Livingston , Itxaso Marti , Cyril Mignot , Fanny Mochel , Marie-Christine Nougues , Ilena Oppermann , Belén Pérez-Dueñas , Bernt Popp , Mathieu P Rodero , Diana Rodriguez , Veronica Saletti , Cia Sharpe , Davide Tonduti , Gayatri Vadlamani , Keith Van Haren , Miguel Tomas Vila , Julie Vogt , Evangeline Wassmer , Arnaud Wiedemann , Callum J Wilson , Ayelet Zerem , Christiane Zweier , Sameer M Zuberi , Simona Orcesi , Adeline L Vanderver , Sun Hur , Yanick J Crow

Novel Loss of Function Variant in BCKDK Causes a Treatable Developmental and Epileptic Encephalopathy.

International journal of molecular sciences

Avec: François Boemer , Claire Josse , Géraldine Luis , Emmanuel Di Valentin , Jérôme Thiry , Christophe Cello , Jean-Hubert Caberg , Caroline Dadoumont , Aimé Lumaka , Vincent Bours , François-Guillaume Debray

ROHHAD syndrome without rapid-onset obesity: A diagnosis challenge.

Frontiers in pediatrics

Avec: Blandine Desse , Antoine Tran , Mathilde Butori , Sarah Marchal , Michael Afanetti , Sébastien Barthélemy , Etienne Bérard , Elisabeth Baechler , Stéphane Debelleix , Marie-Emilie Lampin , Julie Macey , Bruno Massenavette , Ha Trang , Lisa Giovannini-Chami

Rapid Whole Genome Sequencing Diagnoses and Guides Treatment in Critically Ill Children in Belgium in Less than 40 Hours.

International journal of molecular sciences

Avec: Aimé Lumaka , Corinne Fasquelle , Francois-Guillaume Debray , Serpil Alkan , Adeline Jacquinet , François Boemer , André Mulder , Sandrine Vaessen , Renaud Viellevoye , Leonor Palmeira , Benoit Charloteaux , Anne Brysse , Saskia Bulk , Vincent Rigo , Vincent Bours

ROHHAD(NET) Syndrome: Systematic Review of the Clinical Timeline and Recommendations for Diagnosis and Prognosis.

The Journal of clinical endocrinology and metabolism

Avec: Caroline Gernay , Meriem Mastouri , Nesrine Farhat , Marie-Christine Lebrethon , Marie-Christine Seghaye , Vincent Bours

Genetic association analysis of 77,539 genomes reveals rare disease etiologies.

Nature medicine

Avec: Daniel Greene , Auteur inconnu , Daniela Pirri , Karen Frudd , Ege Sackey , Mohammed Al-Owain , Arnaud P J Giese , Khushnooda Ramzan , Sehar Riaz , Itaru Yamanaka , Nele Boeckx , Chantal Thys , Bruce D Gelb , Paul Brennan , Verity Hartill , Tomoki Kosho , Sahar Mansour , Mitsuo Masuno , Takako Ohata , Helen Stewart , Khalid Taibah , Claire L S Turner , Faiqa Imtiaz , Saima Riazuddin , Takayuki Morisaki , Pia Ostergaard , Bart L Loeys , Hiroko Morisaki , Zubair M Ahmed , Graeme M Birdsey , Kathleen Freson , Andrew Mumford , Ernest Turro

[Heredity and cancer].

Revue medicale de Liege

Avec: E Docampo , M Martin , M Gangolf , J Harvengt , S Bulk , K Segers , N Leroi , C Lete , V Palmariciotti , V Freire Chadrina , F Lambert , V Bours

Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review.

Orphanet journal of rare diseases

Avec: Hélène Warnier , Christophe Barrea , Sarah Bethlen , Isabelle Schrouff ,

Réseau de co-auteurs

Vincent Bours 3 collaborations

Christophe Barrea 2 collaborations

François-Guillaume Debray 2 collaborations

François Boemer 2 collaborations

Aimé Lumaka 2 collaborations

Gillian I Rice 1 collaboration

Sehoon Park 1 collaboration

Francesco Gavazzi 1 collaboration

Laura A Adang 1 collaboration

Loveline A Ayuk 1 collaboration

Lien Van Eyck 1 collaboration

Luis Seabra 1 collaboration

Roberta Battini 1 collaboration

Alexandre Belot 1 collaboration

Stefan Berg 1 collaboration

Thierry Billette de Villemeur 1 collaboration

Annette E Bley 1 collaboration

Lubov Blumkin 1 collaboration

Odile Boespflug-Tanguy 1 collaboration

Tracy A Briggs 1 collaboration

Elise Brimble 1 collaboration

Russell C Dale 1 collaboration

Niklas Darin 1 collaboration

Valentina De Giorgis 1 collaboration

Jonas Denecke 1 collaboration

Diane Doummar 1 collaboration

Gunilla Drake Af Hagelsrum 1 collaboration

Despina Eleftheriou 1 collaboration

Margherita Estienne 1 collaboration

Elisa Fazzi 1 collaboration

François Feillet 1 collaboration

Jessica Galli 1 collaboration

Nicholas Hartog 1 collaboration

Bénédicte Heron 1 collaboration

Delphine Heron 1 collaboration

Diedre A Kelly 1 collaboration

Dorit Lev 1 collaboration

Virginie Levrat 1 collaboration

John H Livingston 1 collaboration

Itxaso Marti 1 collaboration

Cyril Mignot 1 collaboration

Fanny Mochel 1 collaboration

Marie-Christine Nougues 1 collaboration

Ilena Oppermann 1 collaboration

Belén Pérez-Dueñas 1 collaboration

Bernt Popp 1 collaboration

Mathieu P Rodero 1 collaboration

Diana Rodriguez 1 collaboration

Veronica Saletti 1 collaboration

Cia Sharpe 1 collaboration

Davide Tonduti 1 collaboration

Gayatri Vadlamani 1 collaboration

Keith Van Haren 1 collaboration

Miguel Tomas Vila 1 collaboration

Julie Vogt 1 collaboration

Evangeline Wassmer 1 collaboration

Arnaud Wiedemann 1 collaboration

Callum J Wilson 1 collaboration

Ayelet Zerem 1 collaboration

Christiane Zweier 1 collaboration

Sameer M Zuberi 1 collaboration

Simona Orcesi 1 collaboration

Adeline L Vanderver 1 collaboration

Sun Hur 1 collaboration

Yanick J Crow 1 collaboration

Claire Josse 1 collaboration

Géraldine Luis 1 collaboration

Emmanuel Di Valentin 1 collaboration

Jérôme Thiry 1 collaboration

Christophe Cello 1 collaboration

Jean-Hubert Caberg 1 collaboration

Caroline Dadoumont 1 collaboration

Blandine Desse 1 collaboration

Antoine Tran 1 collaboration

Mathilde Butori 1 collaboration

Sarah Marchal 1 collaboration

Michael Afanetti 1 collaboration

Sébastien Barthélemy 1 collaboration

Etienne Bérard 1 collaboration

Elisabeth Baechler 1 collaboration

Stéphane Debelleix 1 collaboration

Marie-Emilie Lampin 1 collaboration

Julie Macey 1 collaboration

Bruno Massenavette 1 collaboration

Ha Trang 1 collaboration

Lisa Giovannini-Chami 1 collaboration

Corinne Fasquelle 1 collaboration

Francois-Guillaume Debray 1 collaboration

Serpil Alkan 1 collaboration

Adeline Jacquinet 1 collaboration

André Mulder 1 collaboration

Sandrine Vaessen 1 collaboration

Renaud Viellevoye 1 collaboration

Leonor Palmeira 1 collaboration

Benoit Charloteaux 1 collaboration

Anne Brysse 1 collaboration

Saskia Bulk 1 collaboration

Vincent Rigo 1 collaboration

Caroline Gernay 1 collaboration

Meriem Mastouri 1 collaboration

Nesrine Farhat 1 collaboration

Marie-Christine Lebrethon 1 collaboration

Marie-Christine Seghaye 1 collaboration

Daniel Greene 1 collaboration

None None 1 collaboration

Daniela Pirri 1 collaboration

Karen Frudd 1 collaboration

Ege Sackey 1 collaboration

Mohammed Al-Owain 1 collaboration

Arnaud P J Giese 1 collaboration

Khushnooda Ramzan 1 collaboration

Sehar Riaz 1 collaboration

Itaru Yamanaka 1 collaboration

Nele Boeckx 1 collaboration

Chantal Thys 1 collaboration

Bruce D Gelb 1 collaboration

Paul Brennan 1 collaboration

Verity Hartill 1 collaboration

Tomoki Kosho 1 collaboration

Sahar Mansour 1 collaboration

Mitsuo Masuno 1 collaboration

Takako Ohata 1 collaboration

Helen Stewart 1 collaboration

Khalid Taibah 1 collaboration

Claire L S Turner 1 collaboration

Faiqa Imtiaz 1 collaboration

Saima Riazuddin 1 collaboration

Takayuki Morisaki 1 collaboration

Pia Ostergaard 1 collaboration

Bart L Loeys 1 collaboration

Hiroko Morisaki 1 collaboration

Zubair M Ahmed 1 collaboration

Graeme M Birdsey 1 collaboration

Kathleen Freson 1 collaboration

Andrew Mumford 1 collaboration

Ernest Turro 1 collaboration

E Docampo 1 collaboration

M Martin 1 collaboration

M Gangolf 1 collaboration

J Harvengt 1 collaboration

S Bulk 1 collaboration

K Segers 1 collaboration

N Leroi 1 collaboration

C Lete 1 collaboration

V Palmariciotti 1 collaboration

V Freire Chadrina 1 collaboration

F Lambert 1 collaboration

V Bours 1 collaboration

Hélène Warnier 1 collaboration

Sarah Bethlen 1 collaboration

Isabelle Schrouff 1 collaboration