Bert Callewaert

Affiliations
  • Center for Medical Genetics Ghent, Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.

Publications (41)

Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects.

Human molecular genetics
Avec: Annekatrien Boel , Joyce Burger , Marine Vanhomwegen , Aude Beyens , Marjolijn Renard , Sander Barnhoorn , Christophe Casteleyn , Dieter P Reinhardt , Benedicte Descamps , Christian Vanhove , Ingrid van der Pluijm , Paul Coucke , Andy Willaert , Jeroen Essers , Bert Callewaert

Lessons learned from 40 novel PIGA patients and a review of the literature.

Epilepsia
Avec: Allan Bayat , Alexej Knaus , Manuela Pendziwiat , Alexandra Afenjar , Tahsin Stefan Barakat , Friedrich Bosch , Bert Callewaert , Patrick Calvas , Berten Ceulemans , Nicolas Chassaing , Christel Depienne , Milda Endziniene , Carlos R Ferreira , Carolina Fischinger Moura de Souza , Cécile Freihuber , Shiva Ganesan , Svetlana Gataullina , Renzo Guerrini , Anne-Marie Guerrot , Lars Hansen , Aleksandra Jezela-Stanek , Caroline Karsenty , Anneke Kievit , Frank R Kooy , Christian M Korff , Johanne Kragh Hansen , Martin Larsen , Valérie Layet , Gaetan Lesca , Kim L McBride , Marije Meuwissen , Cyril Mignot , Martino Montomoli , Hannah Moore , Sophie Naudion , Caroline Nava , Marie-Christine Nougues , Elena Parrini , Matthew Pastore , Jurgen H Schelhaas , Steven Skinner , Krzysztoł Szczałuba , Ashley Thomas , Mads Thomassen , Lisbeth Tranebjaerg , Marjon van Slegtenhorst , Lynne A Wolfe , Dennis Lal , Elena Gardella , Lilian Bomme Ousager , Tobias Brünger , Ingo Helbig , Peter Krawitz , Rikke S Møller

Mowat-Wilson syndrome: growth charts.

Orphanet journal of rare diseases
Avec: Ivan Ivanovski , Olivera Djuric , Serena Broccoli , Stefano Giuseppe Caraffi , Patrizia Accorsi , Margaret P Adam , Kristina Avela , Magdalena Badura-Stronka , Allan Bayat , Jill Clayton-Smith , Isabella Cocco , Duccio Maria Cordelli , Goran Cuturilo , Veronica Di Pisa , Juliette Dupont Garcia , Roberto Gastaldi , Lucio Giordano , Andrea Guala , Christina Hoei-Hansen , Mie Inaba , Alessandro Iodice , Jens Erik Klint Nielsen , Vladimir Kuburovic , Brissia Lazalde-Medina , Baris Malbora , Seiji Mizuno , Oana Moldovan , Rikke S Møller , Petra Muschke , Valeria Otelli , Chiara Pantaleoni , Carmelo Piscopo , Maria Luisa Poch-Olive , Igor Prpic , Purificación Marín Reina , Federico Raviglione , Emilia Ricci , Emanuela Scarano , Graziella Simonte , Robert Smigiel , George Tanteles , Luigi Tarani , Aurelien Trimouille , Elvis Terci Valera , Samantha Schrier Vergano , Karin Writzl , Bert Callewaert , Salvatore Savasta , Maria Elisabeth Street , Lorenzo Iughetti , Sergio Bernasconi , Paolo Giorgi Rossi , Livia Garavelli

Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer.

Science advances
Avec: Kezhi Yan , Justine Rousseau , Keren Machol , Laura A Cross , Katherine E Agre , Cynthia Forster Gibson , Anne Goverde , Kendra L Engleman , Hannah Verdin , Elfride De Baere , Lorraine Potocki , Dihong Zhou , Maxime Cadieux-Dion , Gary A Bellus , Monisa D Wagner , Rebecca J Hale , Natacha Esber , Alan F Riley , Benjamin D Solomon , Megan T Cho , Kirsty McWalter , Roy Eyal , Meagan K Hainlen , Bryce A Mendelsohn , Hillary M Porter , Brendan C Lanpher , Andrea M Lewis , Juliann Savatt , Isabelle Thiffault , Bert Callewaert , Philippe M Campeau , Xiang-Jiao Yang

ATP6V0A2-related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype.

Experimental dermatology
Avec: Aude Beyens , Ester Moreno-Artero , Christine Bodemer , Helen Cox , Alper Gezdirici , Elif Yilmaz Gulec , Najoua Kahloul , Philippe Khau Van Kien , Gonul Ogur , Annie Harroche , Marc Vasse , Aïcha Salhi , Sofie Symoens , Smail Hadj-Rabia , Bert Callewaert

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Gregory Costain , Bert Callewaert , Heinz Gabriel , Tiong Y Tan , Susan Walker , John Christodoulou , Tamas Lazar , Björn Menten , Julia Orkin , Simon Sadedin , Meaghan Snell , Arnaud Vanlander , Sarah Vergult , Susan M White , Stephen W Scherer , Robin Z Hayeems , Susan Blaser , Shoshana J Wodak , David Chitayat , Christian R Marshall , M Stephen Meyn

Non-Invasive Evaluation of Cerebral Microvasculature Using Pre-Clinical MRI: Principles, Advantages and Limitations.

Diagnostics (Basel, Switzerland)
Avec: Bram Callewaert , Elizabeth A V Jones , Uwe Himmelreich , Willy Gsell

IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?

Clinical genetics
Avec: Diego Lopergolo , Flavia Privitera , Giuseppe Castello , Caterina Lo Rizzo , Maria Antonietta Mencarelli , Anna Maria Pinto , Francesca Ariani , Aurora Currò , Vittoria Lamacchia , Roberto Canitano , Elisabetta Vaghi , Alessandra Ferrarini , Gerardo Mejia Baltodano , Damien Lederer , Lionel Van Maldergem , Mercedes Serrano , Mercè Pineda , Maria Del Carmen Fons-Estupina , Hilde Van Esch , Jeroen Breckpot , Candy Kumps , Bert Callewaert , Sabrina Mueller , Gian Paolo Ramelli , Judith Armstrong , Alessandra Renieri , Francesca Mari

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

Genome medicine
Avec: Madelyn A Gillentine , Tianyun Wang , Kendra Hoekzema , Jill Rosenfeld , Pengfei Liu , Hui Guo , Chang N Kim , Bert B A De Vries , Lisenka E L M Vissers , Magnus Nordenskjold , Malin Kvarnung , Anna Lindstrand , Ann Nordgren , Jozef Gecz , Maria Iascone , Anna Cereda , Agnese Scatigno , Silvia Maitz , Ginevra Zanni , Enrico Bertini , Christiane Zweier , Sarah Schuhmann , Antje Wiesener , Micah Pepper , Heena Panjwani , Erin Torti , Farida Abid , Irina Anselm , Siddharth Srivastava , Paldeep Atwal , Carlos A Bacino , Gifty Bhat , Katherine Cobian , Lynne M Bird , Jennifer Friedman , Meredith S Wright , Bert Callewaert , Florence Petit , Sophie Mathieu , Alexandra Afenjar , Celenie K Christensen , Kerry M White , Orly Elpeleg , Itai Berger , Edward J Espineli , Christina Fagerberg , Charlotte Brasch-Andersen , Lars Kjærsgaard Hansen , Timothy Feyma , Susan Hughes , Isabelle Thiffault , Bonnie Sullivan , Shuang Yan , Kory Keller , Boris Keren , Cyril Mignot , Frank Kooy , Marije Meuwissen , Alice Basinger , Mary Kukolich , Meredith Philips , Lucia Ortega , Margaret Drummond-Borg , Mathilde Lauridsen , Kristina Sorensen , Anna Lehman , Auteur inconnu , Elena Lopez-Rangel , Paul Levy , Davor Lessel , Timothy Lotze , Suneeta Madan-Khetarpal , Jessica Sebastian , Jodie Vento , Divya Vats , L Manace Benman , Shane Mckee , Ghayda M Mirzaa , Candace Muss , John Pappas , Hilde Peeters , Corrado Romano , Maurizio Elia , Ornella Galesi , Marleen E H Simon , Koen L I van Gassen , Kara Simpson , Robert Stratton , Sabeen Syed , Julien Thevenon , Irene Valenzuela Palafoll , Antonio Vitobello , Marie Bournez , Laurence Faivre , Kun Xia , Auteur inconnu , Rachel K Earl , Tomasz Nowakowski , Raphael A Bernier , Evan E Eichler

LTBP1 promotes fibrillin incorporation into the extracellular matrix.

Matrix biology : journal of the International Society for Matrix Biology
Avec: Matthias Przyklenk , Veronika S Georgieva , Fabian Metzen , Sebastian Mostert , Birgit Kobbe , Bert Callewaert , Gerhard Sengle , Bent Brachvogel , Robert P Mecham , Mats Paulsson , Raimund Wagener , Manuel Koch , Alvise Schiavinato

Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures.

PLoS genetics
Avec: Lore Pottie , Wouter Van Gool , Michiel Vanhooydonck , Franz-Georg Hanisch , Geert Goeminne , Andreja Rajkovic , Paul Coucke , Patrick Sips , Bert Callewaert

A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene.

medRxiv : the preprint server for health sciences
Avec: María Del Rocío Pérez Baca , Eva Z Jacobs , Lies Vantomme , Pontus Leblanc , Elke Bogaert , Annelies Dheedene , Laurenz De Cock , Sadegheh Haghshenas , Aidin Foroutan , Michael A Levy , Jennifer Kerkhof , Haley McConkey , Chun-An Chen , Nurit Assia Batzir , Xia Wang , Maria Palomares , Marieke Carels , Auteur inconnu , Bart Demaut , Bekim Sadikovic , Björn Menten , Bo Yuan , Sarah Vergult , Bert Callewaert

Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.

Genome medicine
Avec: Katherine S Josephs , Angharad M Roberts , Pantazis Theotokis , Roddy Walsh , Philip J Ostrowski , Matthew Edwards , Andrew Fleming , Courtney Thaxton , Jason D Roberts , Melanie Care , Wojciech Zareba , Arnon Adler , Amy C Sturm , Rafik Tadros , Valeria Novelli , Emma Owens , Lucas Bronicki , Olga Jarinova , Bert Callewaert , Stacey Peters , Tom Lumbers , Elizabeth Jordan , Babken Asatryan , Neesha Krishnan , Ray E Hershberger , C Anwar A Chahal , Andrew P Landstrom , Cynthia James , Elizabeth M McNally , Daniel P Judge , Peter van Tintelen , Arthur Wilde , Michael Gollob , Jodie Ingles , James S Ware

Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.

American journal of medical genetics. Part A
Avec: Monica H Wojcik , Siddharth Srivastava , Pankaj B Agrawal , Tugce B Balci , Bert Callewaert , Pier Luigi Calvo , Diana Carli , Michelle Caudle , Samantha Colaiacovo , Laura Cross , Kalliope Demetriou , Katy Drazba , Marina Dutra-Clarke , Matthew Edwards , Casie A Genetti , Dorothy K Grange , Scott E Hickey , Bertrand Isidor , Sébastien Küry , Herbert M Lachman , Alinoe Lavillaureix , Michael J Lyons , Carlo Marcelis , Elysa J Marco , Julian A Martinez-Agosto , Catherine Nowak , Antonio Pizzol , Marc Planes , Eloise J Prijoles , Evelise Riberi , Eric T Rush , Bianca E Russell , Rani Sachdev , Betsy Schmalz , Deborah Shears , David A Stevenson , Kate Wilson , Sandra Jansen , Bert B A de Vries , Cynthia J Curry

SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome.

American journal of medical genetics. Part A
Avec: Aamuktha R Karla , Amélie Pinard , Maura L Boerio , Dimitri Hemelsoet , Simon J Tavernier , Michel De Pauw , Elke Vereecke , Stuart Fraser , Michael J Bamshad , Dongchuan Guo , Bert Callewaert , Dianna M Milewicz

ATP7A-related copper transport disorders: A systematic review and definition of the clinical subtypes.

Journal of inherited metabolic disease
Avec: S De Feyter , A Beyens , B Callewaert

A Systematic Review and Cross-Database Analysis of Single Nucleotide Polymorphisms underlying Hip Morphology and Osteoarthritis reveals shared mechanisms.

Osteoarthritis and cartilage
Avec: Marlies Verleyen , Yukun He , Arne Burssens , Marta Santana Silva , Bert Callewaert , Emmanuel Audenaert

Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.

American journal of human genetics
Avec: Lore Pottie , Christin S Adamo , Aude Beyens , Steffen Lütke , Piyanoot Tapaneeyaphan , Adelbert De Clercq , Phil L Salmon , Riet De Rycke , Alper Gezdirici , Elif Yilmaz Gulec , Naz Khan , Jill E Urquhart , William G Newman , Kay Metcalfe , Stephanie Efthymiou , Reza Maroofian , Najwa Anwar , Shazia Maqbool , Fatima Rahman , Ikhlass Altweijri , Monerah Alsaleh , Sawsan Mohamed Abdullah , Mohammad Al-Owain , Mais Hashem , Henry Houlden , Fowzan S Alkuraya , Patrick Sips , Gerhard Sengle , Bert Callewaert

Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.

Human genetics
Avec: Dong Li , Michael E March , Paola Fortugno , Liza L Cox , Leticia S Matsuoka , Rosanna Monetta , Christoph Seiler , Louise C Pyle , Emma C Bedoukian , María José Sánchez-Soler , Oana Caluseriu , Katheryn Grand , Allison Tam , Alicia R P Aycinena , Letizia Camerota , Yiran Guo , Patrick Sleiman , Bert Callewaert , Candy Kumps , Annelies Dheedene , Michael Buckley , Edwin P Kirk , Anne Turner , Benjamin Kamien , Chirag Patel , Meredith Wilson , Tony Roscioli , John Christodoulou , Timothy C Cox , Elaine H Zackai , Francesco Brancati , Hakon Hakonarson , Elizabeth J Bhoj

Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families.

Clinical genetics
Avec: Fiona McKenzie , Kym Mina , Bert Callewaert , Aude Beyens , Jan E Dickinson , Gareth Jevon , John Papadimitriou , Birgitte Rode Diness , Jesper Norman Steensberg , Jakob Ek , Gareth Baynam

Correction: Arterial tortuosity syndrome: 40 new families and literature review.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Aude Beyens , Juliette Albuisson , Annekatrien Boel , Mazen Al-Essa , Waheed Al-Manea , Damien Bonnet , Ozlem Bostan , Odile Boute , Tiffany Busa , Nathalie Canham , Ergun Cil , Paul J Coucke , Margot A Cousin , Majed Dasouki , Julie De Backer , Anne De Paepe , Sofie De Schepper , Deepthi De Silva , Koenraad Devriendt , Inge De Wandele , David R Deyle , Harry Dietz , Sophie Dupuis-Girod , Eudice Fontenot , Björn Fischer-Zirnsak , Alper Gezdirici , Jamal Ghoumid , Fabienne Giuliano , Neus Baena , Mohammed Z Haider , Joshua S Hardin , Xavier Jeunemaitre , Eric W Klee , Uwe Kornak , Manuel F Landecho , Anne Legrand , Bart Loeys , Stanislas Lyonnet , Helen Michael , Pamela Moceri , Shehla Mohammed , Laura Muiño-Mosquera , Sheela Nampoothiri , Karin Pichler , Katrina Prescott , Anna Rajeb , Maria Ramos-Arroyo , Massimiliano Rossi , Mustafa Salih , Mohammed Z Seidahmed , Elise Schaefer , Elisabeth Steichen-Gersdorf , Sehime Temel , Fahrettin Uysal , Marine Vanhomwegen , Lut Van Laer , Lionel Van Maldergem , David Warner , Andy Willaert , Tom R Collins Ii , Andrea Taylor , Elaine C Davis , Yuri Zarate , Bert Callewaert

Loss-of-Function Variants in

Genes
Avec: Maxim Verlee , Aude Beyens , Alper Gezdirici , Elif Yilmaz Gulec , Lore Pottie , Silke De Feyter , Michiel Vanhooydonck , Piyanoot Tapaneeyaphan , Sofie Symoens , Bert Callewaert

A Reassessment of Copy Number Variations in Congenital Heart Defects: Picturing the Whole Genome.

Genes
Avec: Ilse Meerschaut , Sarah Vergult , Annelies Dheedene , Björn Menten , Katya De Groote , Hans De Wilde , Laura Muiño Mosquera , Joseph Panzer , Kristof Vandekerckhove , Paul J Coucke , Daniël De Wolf , Bert Callewaert

Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects.

American journal of medical genetics. Part A
Avec: Gerarda Cappuccio , Nicola Brunetti-Pierri , Paul Clift , Christopher Learn , John C Dykes , Catherine L Mercer , Bert Callewaert , Ilse Meerschaut , Alessandro Mauro Spinelli , Irene Bruno , Matthew J Gillespie , Aaron T Dorfman , Adda Grimberg , Mark E Lindsay , Angela E Lin

A Genotype/Phenotype Study of

Genes
Avec: Maria Carla Borroto , Coralie Michaud , Chloé Hudon , Pankaj B Agrawal , Katherine Agre , Carolyn D Applegate , Alan H Beggs , Hans T Bjornsson , Bert Callewaert , Mei-Jan Chen , Cynthia Curry , Orrin Devinsky , Tracy Dudding-Byth , Kelly Fagan , Candice R Finnila , Ralitza Gavrilova , Casie A Genetti , Susan M Hiatt , Friedhelm Hildebrandt , Monica H Wojcik , Tjitske Kleefstra , Caroline M Kolvenbach , Bruce R Korf , Paul Kruszka , Hong Li , Jessica Litwin , Julien Marcadier , Konrad Platzer , Patrick R Blackburn , Margot R F Reijnders , Heiko Reutter , Ina Schanze , Joseph T Shieh , Cathy A Stevens , Zaheer Valivullah , Marie-José van den Boogaard , Eric W Klee , Philippe M Campeau

EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.

American journal of human genetics
Avec: Christin S Adamo , Aude Beyens , Alvise Schiavinato , Douglas R Keene , Sara F Tufa , Matthias Mörgelin , Jürgen Brinckmann , Takako Sasaki , Anja Niehoff , Maren Dreiner , Lore Pottie , Laura Muiño-Mosquera , Elif Yilmaz Gulec , Alper Gezdirici , Paola Braghetta , Paolo Bonaldo , Raimund Wagener , Mats Paulsson , Helen Bornaun , Riet De Rycke , Michiel De Bruyne , Femke Baeke , Walter P Devine , Balram Gangaram , Allison Tam , Meena Balasubramanian , Sian Ellard , Sandra Moore , Sofie Symoens , Joseph Shen , Stacey Cole , Ulrike Schwarze , Kathryn W Holmes , Susan J Hayflick , Wojciech Wiszniewski , Sheela Nampoothiri , Elaine C Davis , Lynn Y Sakai , Gerhard Sengle , Bert Callewaert

A timeline study on vascular co-morbidity induced cerebral endothelial dysfunction assessed by perfusion MRI.

Neurobiology of disease
Avec: Bram Callewaert , Willy Gsell , Marleen Lox , Uwe Himmelreich , Elizabeth A V Jones

Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa.

Journal of inherited metabolic disease
Avec: Miski Mohamed , Thatjana Gardeitchik , Shanti Balasubramaniam , Sergio Guerrero-Castillo , Daisy Dalloyaux , Sanne van Kraaij , Hanka Venselaar , Alexander Hoischen , Zsolt Urban , Ulrich Brandt , Raya Al-Shawi , J Paul Simons , Michele Frison , Lock-Hock Ngu , Bert Callewaert , Hans Spelbrink , Wouter W Kallemeijn , Johannes M F G Aerts , Mark G Waugh , Eva Morava , Ron A Wevers

Genetics in congenital heart disease. Are we ready for it?

Revista espanola de cardiologia (English ed.)
Avec: Julie De Backer , Bert Callewaert , Laura Muiño Mosquera

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.

Human mutation
Avec: Nurit Assia Batzir , Pranjali Kishor Bhagwat , Austin Larson , Zeynep Coban Akdemir , Maciej Bagłaj , Leon Bofferding , Katherine B Bosanko , Skander Bouassida , Bert Callewaert , Ashley Cannon , Yazmin Enchautegui Colon , Adolfo D Garnica , Margaret H Harr , Sandra Heck , Anna C E Hurst , Shalini N Jhangiani , Bertrand Isidor , Rebecca O Littlejohn , Pengfei Liu , Pilar Magoulas , Helen Mar Fan , Ronit Marom , Scott McLean , Marjan M Nezarati , Kimberly M Nugent , Michael B Petersen , Maria L Rocha , Elizabeth Roeder , Robert Smigiel , Ian Tully , James Weisfeld-Adams , Katerina O Wells , Auteur inconnu , Jennifer E Posey , James R Lupski , Arthur L Beaudet , Michael F Wangler

New insights on the clinical variability of FKBP10 mutations.

European journal of medical genetics
Avec: Osama H Essawi , Piyanoot Tapaneeyaphan , Sofie Symoens , Charlotte Gistelinck C , Fransiska Malfait , David R Eyre , Tamer Essawi , Bert Callewaert , Paul J Coucke

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.

American journal of human genetics
Avec: Illja J Diets , Roos van der Donk , Kristina Baltrunaite , Esmé Waanders , Margot R F Reijnders , Alexander J M Dingemans , Rolph Pfundt , Anneke T Vulto-van Silfhout , Laurens Wiel , Christian Gilissen , Julien Thevenon , Laurence Perrin , Alexandra Afenjar , Caroline Nava , Boris Keren , Sarah Bartz , Bethany Peri , Gea Beunders , Nienke Verbeek , Koen van Gassen , Isabelle Thiffault , Maxime Cadieux-Dion , Lina Huerta-Saenz , Matias Wagner , Vassiliki Konstantopoulou , Julia Vodopiutz , Matthias Griese , Annekatrien Boel , Bert Callewaert , Han G Brunner , Tjitske Kleefstra , Nicoline Hoogerbrugge , Bert B A de Vries , Vivian Hwa , Andrew Dauber , Jayne Y Hehir-Kwa , Roland P Kuiper , Marjolijn C J Jongmans

Clinical and Molecular Delineation of Cutis Laxa Syndromes: Paradigms for Homeostasis.

Advances in experimental medicine and biology
Avec: Aude Beyens , Lore Pottie , Patrick Sips , Bert Callewaert

ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.

Human mutation
Avec: Thabo M Yates , Morgan Drucker , Angela Barnicoat , Karen Low , Erica H Gerkes , Andrew E Fry , Michael J Parker , Mary O'Driscoll , Perrine Charles , Helen Cox , Isabelle Marey , Boris Keren , Tuula Rinne , Meriel McEntagart , Vijaya Ramachandran , Suzanne Drury , Fleur Vansenne , Deborah A Sival , Johanna C Herkert , Bert Callewaert , Wen-Hann Tan , Meena Balasubramanian

Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A.

The Journal of experimental medicine
Avec: Alice Lepelley , Erika Della Mina , Erika Van Nieuwenhove , Lise Waumans , Sylvie Fraitag , Gillian I Rice , Ashish Dhir , Marie-Louise Frémond , Mathieu P Rodero , Luis Seabra , Edwin Carter , Christine Bodemer , Daniela Buhas , Bert Callewaert , Pascale de Lonlay , Lien De Somer , David A Dyment , Fran Faes , Lucy Grove , Simon Holden , Marie Hully , Manju A Kurian , Hugh J McMillan , Kristin Suetens , Henna Tyynismaa , Stéphanie Chhun , Timothy Wai , Carine Wouters , Brigitte Bader-Meunier , Yanick J Crow

Two cases of DCDC2-related neonatal sclerosing cholangitis with developmental delay and literature review.

Clinical genetics
Avec: Hannes Syryn , Anne Hoorens , Tassos Grammatikopoulos , Maesha Deheragoda , Sofie Symoens , Saskia Vande Velde , Stephanie Van Biervliet , Myriam Van Winckel , Patrick Verloo , Bert Callewaert , Ruth De Bruyne

Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA).

Orphanet journal of rare diseases
Avec: Nika Schuermans , Dimitri Hemelsoet , Wim Terryn , Sanne Steyaert , Rudy Van Coster , Paul J Coucke , Wouter Steyaert , Bert Callewaert , Elke Bogaert , Patrick Verloo , Arnaud V Vanlander , Elke Debackere , Jody Ghijsels , Pontus LeBlanc , Hannah Verdin , Leslie Naesens , Filomeen Haerynck , Steven Callens , Bart Dermaut , Bruce Poppe , Auteur inconnu

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Reem Al-Jawahiri , Aidin Foroutan , Jennifer Kerkhof , Haley McConkey , Michael Levy , Sadegheh Haghshenas , Kathleen Rooney , Jasmin Turner , Debbie Shears , Muriel Holder , Henrietta Lefroy , Bruce Castle , Linda M Reis , Elena V Semina , Auteur inconnu , Katherine Lachlan , Kate Chandler , Thomas Wright , Jill Clayton-Smith , Franziska Phan Hug , Nelly Pitteloud , Lucia Bartoloni , Sabine Hoffjan , Soo-Mi Park , Ajay Thankamony , Melissa Lees , Emma Wakeling , Swati Naik , Britta Hanker , Katta M Girisha , Emanuele Agolini , Zampino Giuseppe , Ziegler Alban , Marine Tessarech , Boris Keren , Alexandra Afenjar , Christiane Zweier , Andre Reis , Thomas Smol , Yoshinori Tsurusaki , Okamoto Nobuhiko , Futoshi Sekiguchi , Naomi Tsuchida , Naomichi Matsumoto , Ikuyo Kou , Yoshiro Yonezawa , Shiro Ikegawa , Bert Callewaert , Megan Freeth , Auteur inconnu , Lotte Kleinendorst , Alan Donaldson , Marielle Alders , Anne De Paepe , Bekim Sadikovic , Alisdair McNeill

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.

Clinical genetics
Avec: Maria B Christensen , Amanda M Levy , Nazanin A Mohammadi , Marcello Niceta , Rauan Kaiyrzhanov , Maria Lisa Dentici , Chadi Al Alam , Viola Alesi , Valérie Benoit , Kailash P Bhatia , Tatjana Bierhals , Christian M Boßelmann , Julien Buratti , Bert Callewaert , Berten Ceulemans , Perrine Charles , Matthias De Wachter , Mohammadreza Dehghani , Erika D'haenens , Martine Doco-Fenzy , Michaela Geßner , Cyrielle Gobert , Ulviyya Guliyeva , Tobias B Haack , Trine B Hammer , Tilman Heinrich , Maja Hempel , Theresia Herget , Ute Hoffmann , Judit Horvath , Henry Houlden , Boris Keren , Christina Kresge , Candy Kumps , Damien Lederer , Alban Lermine , Francesca Magrinelli , Reza Maroofian , Mohammad Yahya Vahidi Mehrjardi , Mahdiyeh Moudi , Amelie J Müller , Anna J Oostra , Beth A Pletcher , David Ros-Pardo , Shanika Samarasekera , Marco Tartaglia , Kristof Van Schil , Julie Vogt , Evangeline Wassmer , Juliane Winkelmann , Maha S Zaki , Michael Zech , Holger Lerche , Francesca Clementina Radio , Paulino Gomez-Puertas , Rikke S Møller , Zeynep Tümer

Ligneous conjunctivitis mimicking preseptal cellulitis in a 3-month-old infant.

Ophthalmic genetics
Avec: Valentien Merlevede , Virginie Ninclaus , Dimitri Roels , Liesbeth Huys , Bert Callewaert , Elke O Kreps

Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.

Brain : a journal of neurology
Avec: Marcello Scala , Masashi Nishikawa , Hidenori Ito , Hidenori Tabata , Tayyaba Khan , Andrea Accogli , Laura Davids , Anna Ruiz , Pietro Chiurazzi , Gabriella Cericola , Björn Schulte , Kristin G Monaghan , Amber Begtrup , Annalaura Torella , Michele Pinelli , Anne Sophie Denommé-Pichon , Antonio Vitobello , Caroline Racine , Maria Margherita Mancardi , Courtney Kiss , Andrea Guerin , Wendy Wu , Elisabeth Gabau Vila , Bryan C Mak , Julian A Martinez-Agosto , Michael B Gorin , Bugrahan Duz , Yavuz Bayram , Claudia M B Carvalho , Jaime E Vengoechea , David Chitayat , Tiong Yang Tan , Bert Callewaert , Bernd Kruse , Lynne M Bird , Laurence Faivre , Marcella Zollino , Saskia Biskup , Auteur inconnu , Auteur inconnu , Pasquale Striano , Vincenzo Nigro , Mariasavina Severino , Valeria Capra , Gregory Costain , Koh Ichi Nagata

Réseau de co-auteurs

None None 9 collaborations
Aude Beyens 8 collaborations
Alper Gezdirici 5 collaborations
Sofie Symoens 5 collaborations
Boris Keren 5 collaborations
Lore Pottie 5 collaborations
Alexandra Afenjar 4 collaborations
Elif Yilmaz Gulec 4 collaborations
Paul J Coucke 4 collaborations
Annekatrien Boel 3 collaborations
Rikke S Møller 3 collaborations
Isabelle Thiffault 3 collaborations
Björn Menten 3 collaborations
Sarah Vergult 3 collaborations
Candy Kumps 3 collaborations
Gerhard Sengle 3 collaborations
Patrick Sips 3 collaborations
Annelies Dheedene 3 collaborations
Piyanoot Tapaneeyaphan 3 collaborations
Marine Vanhomwegen 2 collaborations
Paul Coucke 2 collaborations
Andy Willaert 2 collaborations
Allan Bayat 2 collaborations
Berten Ceulemans 2 collaborations
Marije Meuwissen 2 collaborations
Cyril Mignot 2 collaborations
Caroline Nava 2 collaborations
Jill Clayton-Smith 2 collaborations
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Marcella Zollino 1 collaboration
Saskia Biskup 1 collaboration
Pasquale Striano 1 collaboration
Vincenzo Nigro 1 collaboration
Mariasavina Severino 1 collaboration
Valeria Capra 1 collaboration
Koh Ichi Nagata 1 collaboration