Jean-Hubert Caberg

Affiliations

Department of Human Genetics, CHU de Liège, Liège, Belgium.

Publications (13)

Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.

Journal of medical genetics

Avec: Aia Elise Jønch , Elise Douard , Clara Moreau , Anke Van Dijck , Marzia Passeggeri , Frank Kooy , Jacques Puechberty , Carolyn Campbell , Damien Sanlaville , Henrietta Lefroy , Sonia Richetin , Aurelie Pain , David Geneviève , Usha Kini , Cédric Le Caignec , James Lespinasse , Anne-Bine Skytte , Bertrand Isidor , Christiane Zweier , Jean-Hubert Caberg , Marie-Ange Delrue , Rikke Steensbjerre Møller , Anders Bojesen , Helle Hjalgrim , Charlotte Brasch-Andersen , Emmanuelle Lemyre , Lilian Bomme Ousager , Sébastien Jacquemont , Auteur inconnu

VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report.

European journal of medical genetics

Avec: Annette Uwineza , Jean-Hubert Caberg , Janvier Hitayezu , Stephane Wenric , Leon Mutesa , Yoann Vial , Séverine Drunat , Sandrine Passemard , Alain Verloes , Vincent El Ghouzzi , Vincent Bours

Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy.

Scientific reports

Avec: Pablo Beckers , Jean-Hubert Caberg , Vinciane Dideberg , Tamara Dangouloff , Johan T den Dunnen , Vincent Bours , Laurent Servais , François Boemer

Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study.

Clinical genetics

Avec: Guillaume Jouret , Solveig Heide , Arthur Sorlin , Laurence Faivre , Sandra Chantot-Bastaraud , Claire Beneteau , Marie Denis-Musquer , Peter D Turnpenny , Charles Coutton , Gaëlle Vieville , Julien Thevenon , Austin Larson , Florence Petit , Elise Boudry , Thomas Smol , Bruno Delobel , Bénédicte Duban-Bedu , Chiara Fallerini , Francesca Mari , Caterina Lo Rizzo , Alessandra Renieri , Jean-Hubert Caberg , Anne-Sophie Denommé-Pichon , Frédéric Tran Mau-Them , Isabelle Maystadt , Thomas Courtin , Boris Keren , Linda Mouthon , Perrine Charles , Silvestre Cuinat , Bertrand Isidor , Philippe Theis , Christian Müller , Marizela Kulisic , Seval Türkmen , Daniel Stieber , Dominique Bourgeois , Emmanuel Scalais , Barbara Klink

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.

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

Avec: Lucilla Pizzo , Matthew Jensen , Andrew Polyak , Jill A Rosenfeld , Katrin Mannik , Arjun Krishnan , Elizabeth McCready , Olivier Pichon , Cedric Le Caignec , Anke Van Dijck , Kate Pope , Els Voorhoeve , Jieun Yoon , Paweł Stankiewicz , Sau Wai Cheung , Damian Pazuchanics , Emily Huber , Vijay Kumar , Rachel L Kember , Francesca Mari , Aurora Curró , Lucia Castiglia , Ornella Galesi , Emanuela Avola , Teresa Mattina , Marco Fichera , Luana Mandarà , Marie Vincent , Mathilde Nizon , Sandra Mercier , Claire Bénéteau , Sophie Blesson , Dominique Martin-Coignard , Anne-Laure Mosca-Boidron , Jean-Hubert Caberg , Maja Bucan , Susan Zeesman , Małgorzata J M Nowaczyk , Mathilde Lefebvre , Laurence Faivre , Patrick Callier , Cindy Skinner , Boris Keren , Charles Perrine , Paolo Prontera , Nathalie Marle , Alessandra Renieri , Alexandre Reymond , R Frank Kooy , Bertrand Isidor , Charles Schwartz , Corrado Romano , Erik Sistermans , David J Amor , Joris Andrieux , Santhosh Girirajan

Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus.

Genome medicine

Avec: Adrian F Daly , Leslie A Dunnington , David F Rodriguez-Buritica , Erica Spiegel , Francesco Brancati , Giovanna Mantovani , Vandana M Rawal , Fabio Rueda Faucz , Hadia Hijazi , Jean-Hubert Caberg , Anna Maria Nardone , Mario Bengala , Paola Fortugno , Giulia Del Sindaco , Marta Ragonese , Helen Gould , Salvatore Cannavò , Patrick Pétrossians , Andrea Lania , James R Lupski , Albert Beckers , Constantine A Stratakis , Brynn Levy , Giampaolo Trivellin , Martin Franke

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

medRxiv : the preprint server for health sciences

Avec: Matthew Jensen , Corrine Smolen , Anastasia Tyryshkina , Lucilla Pizzo , Deepro Banerjee , Matthew Oetjens , Hermela Shimelis , Cora M Taylor , Vijay Kumar Pounraja , Hyebin Song , Laura Rohan , Emily Huber , Laila El Khattabi , Ingrid van de Laar , Rafik Tadros , Connie Bezzina , Marjon van Slegtenhorst , Janneke Kammeraad , Paolo Prontera , Jean-Hubert Caberg , Harry Fraser , Siddhartha Banka , Anke Van Dijck , Charles Schwartz , Els Voorhoeve , Patrick Callier , Anne-Laure Mosca-Boidron , Nathalie Marle , Mathilde Lefebvre , Kate Pope , Penny Snell , Amber Boys , Paul J Lockhart , Myla Ashfaq , Elizabeth McCready , Margaret Nowacyzk , Lucia Castiglia , Ornella Galesi , Emanuela Avola , Teresa Mattina , Marco Fichera , Maria Grazia Bruccheri , Giuseppa Maria Luana Mandarà , Francesca Mari , Flavia Privitera , Ilaria Longo , Aurora Curró , Alessandra Renieri , Boris Keren , Perrine Charles , Silvestre Cuinat , Mathilde Nizon , Olivier Pichon , Claire Bénéteau , Radka Stoeva , Dominique Martin-Coignard , Sophia Blesson , Cedric Le Caignec , Sandra Mercier , Marie Vincent , Christa Martin , Katrin Mannik , Alexandre Reymond , Laurence Faivre , Erik Sistermans , R Frank Kooy , David J Amor , Corrado Romano , Joris Andrieux , Santhosh Girirajan

Newborn screening for SMA in Southern Belgium.

Neuromuscular disorders : NMD

Avec: François Boemer , Jean-Hubert Caberg , Vinciane Dideberg , Domien Dardenne , Vincent Bours , Mickaël Hiligsmann , Tamara Dangouloff , Laurent Servais

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.

Journal of medical genetics

Avec: Laïla Allach El Khattabi , Solveig Heide , Jean-Hubert Caberg , Joris Andrieux , Martine Doco Fenzy , Caroline Vincent-Delorme , Patrick Callier , Sandra Chantot-Bastaraud , Alexandra Afenjar , Odile Boute-Benejean , Marie Pierre Cordier , Laurence Faivre , Christine Francannet , Marion Gerard , Alice Goldenberg , Alice Masurel-Paulet , Anne-Laure Mosca-Boidron , Nathalie Marle , Anne Moncla , Nathalie Le Meur , Michèle Mathieu-Dramard , Ghislaine Plessis , Gaetan Lesca , Massimiliano Rossi , Patrick Edery , Andrée Delahaye-Duriez , Loïc De Pontual , Anne Claude Tabet , Aziza Lebbar , Lesley Suiro , Christine Ioos , Abdelhafid Natiq , Siham Chafai Elalaoui , Chantal Missirian , Aline Receveur , Caroline François-Fiquet , Pascal Garnier , Catherine Yardin , Cécile Laroche , Philippe Vago , Damien Sanlaville , Jean Michel Dupont , Brigitte Benzacken , Eva Pipiras

Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium.

Scientific reports

Avec: François Boemer , Jean-Hubert Caberg , Pablo Beckers , Vinciane Dideberg , Samantha di Fiore , Vincent Bours , Sandrine Marie , Joseph Dewulf , Lionel Marcelis , Nicolas Deconinck , Aurore Daron , Laura Blasco-Perez , Eduardo Tizzano , Mickaël Hiligsmann , Jacques Lombet , Tatiana Pereira , Lucia Lopez-Granados , Sarvnaz Shalchian-Tehran , Véronique van Assche , Arabelle Willems , Sofie Huybrechts , Bénédicte Mast , Rudolf van Olden , Tamara Dangouloff , Laurent Servais

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 , Julie Harvengt , Aimé Lumaka , Vincent Bours , François-Guillaume Debray

Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.

medRxiv : the preprint server for health sciences

Avec: Corrine Smolen , Matthew Jensen , Lisa Dyer , Lucilla Pizzo , Anastasia Tyryshkina , Deepro Banerjee , Laura Rohan , Emily Huber , Laila El Khattabi , Paolo Prontera , Jean-Hubert Caberg , Anke Van Dijck , Charles Schwartz , Laurence Faivre , Patrick Callier , Anne-Laure Mosca-Boidron , Mathilde Lefebvre , Kate Pope , Penny Snell , Paul J Lockhart , Lucia Castiglia , Ornella Galesi , Emanuela Avola , Teresa Mattina , Marco Fichera , Giuseppa Maria Luana Mandarà , Maria Grazia Bruccheri , Olivier Pichon , Cedric Le Caignec , Radka Stoeva , Silvestre Cuinat , Sandra Mercier , Claire Bénéteau , Sophie Blesson , Ashley Nordsletten , Dominique Martin-Coignard , Erik Sistermans , R Frank Kooy , David J Amor , Corrado Romano , Bertrand Isidor , Jane Juusola , Santhosh Girirajan

Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.

American journal of human genetics

Réseau de co-auteurs

Laurence Faivre 6 collaborations

Anke Van Dijck 5 collaborations

Bertrand Isidor 5 collaborations

Vincent Bours 5 collaborations

Anne-Laure Mosca-Boidron 5 collaborations

Patrick Callier 5 collaborations

François Boemer 4 collaborations

Silvestre Cuinat 4 collaborations

Lucilla Pizzo 4 collaborations

Matthew Jensen 4 collaborations

Olivier Pichon 4 collaborations

Cedric Le Caignec 4 collaborations

Kate Pope 4 collaborations

Emily Huber 4 collaborations

Lucia Castiglia 4 collaborations

Ornella Galesi 4 collaborations

Emanuela Avola 4 collaborations

Teresa Mattina 4 collaborations

Marco Fichera 4 collaborations

Sandra Mercier 4 collaborations

Claire Bénéteau 4 collaborations

Dominique Martin-Coignard 4 collaborations

Mathilde Lefebvre 4 collaborations

Paolo Prontera 4 collaborations

R Frank Kooy 4 collaborations

Charles Schwartz 4 collaborations

Corrado Romano 4 collaborations

Erik Sistermans 4 collaborations

David J Amor 4 collaborations

Santhosh Girirajan 4 collaborations

Vinciane Dideberg 3 collaborations

Tamara Dangouloff 3 collaborations

Laurent Servais 3 collaborations

Francesca Mari 3 collaborations

Alessandra Renieri 3 collaborations

Boris Keren 3 collaborations

Sophie Blesson 3 collaborations

Nathalie Marle 3 collaborations

Joris Andrieux 3 collaborations

Corrine Smolen 3 collaborations

Anastasia Tyryshkina 3 collaborations

Deepro Banerjee 3 collaborations

Laura Rohan 3 collaborations

Laila El Khattabi 3 collaborations

Penny Snell 3 collaborations

Paul J Lockhart 3 collaborations

Maria Grazia Bruccheri 3 collaborations

Giuseppa Maria Luana Mandarà 3 collaborations

Radka Stoeva 3 collaborations

Damien Sanlaville 2 collaborations

Pablo Beckers 2 collaborations

Solveig Heide 2 collaborations

Sandra Chantot-Bastaraud 2 collaborations

Perrine Charles 2 collaborations

Katrin Mannik 2 collaborations

Elizabeth McCready 2 collaborations

Els Voorhoeve 2 collaborations

Aurora Curró 2 collaborations

Marie Vincent 2 collaborations

Mathilde Nizon 2 collaborations

Alexandre Reymond 2 collaborations

Mickaël Hiligsmann 2 collaborations

Lisa Dyer 2 collaborations

Ashley Nordsletten 2 collaborations

Jane Juusola 2 collaborations

Aia Elise Jønch 1 collaboration

Elise Douard 1 collaboration

Clara Moreau 1 collaboration

Marzia Passeggeri 1 collaboration

Frank Kooy 1 collaboration

Jacques Puechberty 1 collaboration

Carolyn Campbell 1 collaboration

Henrietta Lefroy 1 collaboration

Sonia Richetin 1 collaboration

Aurelie Pain 1 collaboration

David Geneviève 1 collaboration

Usha Kini 1 collaboration

Cédric Le Caignec 1 collaboration

James Lespinasse 1 collaboration

Anne-Bine Skytte 1 collaboration

Christiane Zweier 1 collaboration

Marie-Ange Delrue 1 collaboration

Rikke Steensbjerre Møller 1 collaboration

Anders Bojesen 1 collaboration

Helle Hjalgrim 1 collaboration

Charlotte Brasch-Andersen 1 collaboration

Emmanuelle Lemyre 1 collaboration

Lilian Bomme Ousager 1 collaboration

Sébastien Jacquemont 1 collaboration

None None 1 collaboration

Annette Uwineza 1 collaboration

Janvier Hitayezu 1 collaboration

Stephane Wenric 1 collaboration

Leon Mutesa 1 collaboration

Yoann Vial 1 collaboration

Séverine Drunat 1 collaboration

Sandrine Passemard 1 collaboration

Alain Verloes 1 collaboration

Vincent El Ghouzzi 1 collaboration

Johan T den Dunnen 1 collaboration

Guillaume Jouret 1 collaboration

Arthur Sorlin 1 collaboration

Claire Beneteau 1 collaboration

Marie Denis-Musquer 1 collaboration

Peter D Turnpenny 1 collaboration

Charles Coutton 1 collaboration

Gaëlle Vieville 1 collaboration

Julien Thevenon 1 collaboration

Austin Larson 1 collaboration

Florence Petit 1 collaboration

Elise Boudry 1 collaboration

Thomas Smol 1 collaboration

Bruno Delobel 1 collaboration

Bénédicte Duban-Bedu 1 collaboration

Chiara Fallerini 1 collaboration

Caterina Lo Rizzo 1 collaboration

Anne-Sophie Denommé-Pichon 1 collaboration

Frédéric Tran Mau-Them 1 collaboration

Isabelle Maystadt 1 collaboration

Thomas Courtin 1 collaboration

Linda Mouthon 1 collaboration

Philippe Theis 1 collaboration

Christian Müller 1 collaboration

Marizela Kulisic 1 collaboration

Seval Türkmen 1 collaboration

Daniel Stieber 1 collaboration

Dominique Bourgeois 1 collaboration

Emmanuel Scalais 1 collaboration

Barbara Klink 1 collaboration

Andrew Polyak 1 collaboration

Jill A Rosenfeld 1 collaboration

Arjun Krishnan 1 collaboration

Jieun Yoon 1 collaboration

Paweł Stankiewicz 1 collaboration

Sau Wai Cheung 1 collaboration

Damian Pazuchanics 1 collaboration

Vijay Kumar 1 collaboration

Rachel L Kember 1 collaboration

Luana Mandarà 1 collaboration

Maja Bucan 1 collaboration

Susan Zeesman 1 collaboration

Małgorzata J M Nowaczyk 1 collaboration

Cindy Skinner 1 collaboration

Charles Perrine 1 collaboration

Adrian F Daly 1 collaboration

Leslie A Dunnington 1 collaboration

David F Rodriguez-Buritica 1 collaboration

Erica Spiegel 1 collaboration

Francesco Brancati 1 collaboration

Giovanna Mantovani 1 collaboration

Vandana M Rawal 1 collaboration

Fabio Rueda Faucz 1 collaboration

Hadia Hijazi 1 collaboration

Anna Maria Nardone 1 collaboration

Mario Bengala 1 collaboration

Paola Fortugno 1 collaboration

Giulia Del Sindaco 1 collaboration

Marta Ragonese 1 collaboration

Helen Gould 1 collaboration

Salvatore Cannavò 1 collaboration

Patrick Pétrossians 1 collaboration

Andrea Lania 1 collaboration

James R Lupski 1 collaboration

Albert Beckers 1 collaboration

Constantine A Stratakis 1 collaboration

Brynn Levy 1 collaboration

Giampaolo Trivellin 1 collaboration

Martin Franke 1 collaboration

Matthew Oetjens 1 collaboration

Hermela Shimelis 1 collaboration

Cora M Taylor 1 collaboration

Vijay Kumar Pounraja 1 collaboration

Hyebin Song 1 collaboration

Ingrid van de Laar 1 collaboration

Rafik Tadros 1 collaboration

Connie Bezzina 1 collaboration

Marjon van Slegtenhorst 1 collaboration

Janneke Kammeraad 1 collaboration

Harry Fraser 1 collaboration

Siddhartha Banka 1 collaboration

Amber Boys 1 collaboration

Myla Ashfaq 1 collaboration

Margaret Nowacyzk 1 collaboration

Flavia Privitera 1 collaboration

Ilaria Longo 1 collaboration

Sophia Blesson 1 collaboration

Christa Martin 1 collaboration

Domien Dardenne 1 collaboration

Laïla Allach El Khattabi 1 collaboration

Martine Doco Fenzy 1 collaboration

Caroline Vincent-Delorme 1 collaboration

Alexandra Afenjar 1 collaboration

Odile Boute-Benejean 1 collaboration

Marie Pierre Cordier 1 collaboration

Christine Francannet 1 collaboration

Marion Gerard 1 collaboration

Alice Goldenberg 1 collaboration

Alice Masurel-Paulet 1 collaboration

Anne Moncla 1 collaboration

Nathalie Le Meur 1 collaboration

Michèle Mathieu-Dramard 1 collaboration

Ghislaine Plessis 1 collaboration

Gaetan Lesca 1 collaboration

Massimiliano Rossi 1 collaboration

Patrick Edery 1 collaboration

Andrée Delahaye-Duriez 1 collaboration

Loïc De Pontual 1 collaboration

Anne Claude Tabet 1 collaboration

Aziza Lebbar 1 collaboration

Lesley Suiro 1 collaboration

Christine Ioos 1 collaboration

Abdelhafid Natiq 1 collaboration

Siham Chafai Elalaoui 1 collaboration

Chantal Missirian 1 collaboration

Aline Receveur 1 collaboration

Caroline François-Fiquet 1 collaboration

Pascal Garnier 1 collaboration

Catherine Yardin 1 collaboration

Cécile Laroche 1 collaboration

Philippe Vago 1 collaboration

Jean Michel Dupont 1 collaboration

Brigitte Benzacken 1 collaboration

Eva Pipiras 1 collaboration

Samantha di Fiore 1 collaboration

Sandrine Marie 1 collaboration

Joseph Dewulf 1 collaboration

Lionel Marcelis 1 collaboration

Nicolas Deconinck 1 collaboration

Aurore Daron 1 collaboration

Laura Blasco-Perez 1 collaboration

Eduardo Tizzano 1 collaboration

Jacques Lombet 1 collaboration

Tatiana Pereira 1 collaboration

Lucia Lopez-Granados 1 collaboration

Sarvnaz Shalchian-Tehran 1 collaboration

Véronique van Assche 1 collaboration

Arabelle Willems 1 collaboration

Sofie Huybrechts 1 collaboration

Bénédicte Mast 1 collaboration

Rudolf van Olden 1 collaboration

Claire Josse 1 collaboration

Géraldine Luis 1 collaboration

Emmanuel Di Valentin 1 collaboration

Jérôme Thiry 1 collaboration

Christophe Cello 1 collaboration

Caroline Dadoumont 1 collaboration

Julie Harvengt 1 collaboration

Aimé Lumaka 1 collaboration

François-Guillaume Debray 1 collaboration