Jozef Hertecant

Lihadh Al-Gazali 6 collaborations

None None 6 collaborations

Siddharth Banka 4 collaborations

Ayman W El-Hattab 4 collaborations

Fatma Al-Jasmi 4 collaborations

Christian Beetz 3 collaborations

Fatma Al Jasmi 3 collaborations

Amanat Ali 3 collaborations

Nahid Al Dhahouri 3 collaborations

Reza Maroofian 3 collaborations

Ehsan Ghayoor Karimiani 3 collaborations

Sara Cuvertino 2 collaborations

Verity Hartill 2 collaborations

Alice Colyer 2 collaborations

Terence Garner 2 collaborations

Nisha Nair 2 collaborations

Natalie Canham 2 collaborations

Victor Faundes 2 collaborations

Frances Flinter 2 collaborations

Muriel Holder-Espinasse 2 collaborations

Brian Jackson 2 collaborations

Sally Ann Lynch 2 collaborations

Fatima Nadat 2 collaborations

Vagheesh M Narasimhan 2 collaborations

Michelle Peckham 2 collaborations

Robert Sellers 2 collaborations

Marco Seri 2 collaborations

Francesca Montanari 2 collaborations

Laura Southgate 2 collaborations

Gabriella Maria Squeo 2 collaborations

Richard Trembath 2 collaborations

David van Heel 2 collaborations

Santina Venuto 2 collaborations

Daniel Weisberg 2 collaborations

Karen Stals 2 collaborations

Sian Ellard 2 collaborations

Anne Barton 2 collaborations

Susan J Kimber 2 collaborations

Eamonn Sheridan 2 collaborations

Giuseppe Merla 2 collaborations

Adam Stevens 2 collaborations

Colin A Johnson 2 collaborations

Jehan Suleiman 2 collaborations

Jill A Rosenfeld 2 collaborations

Pengfei Liu 2 collaborations

Aida M Bertoli-Avella 2 collaborations

Dan Diego-Alvarez 2 collaborations

Krishna K Kandaswamy 2 collaborations

Kapil Kampe 2 collaborations

Aisha M Al-Shamsi 2 collaborations

Majid Alfadhel 2 collaborations

Peter Bauer 2 collaborations

Vincent Cantagrel 2 collaborations

Karine Siquier-Pernet 2 collaborations

Khalid Al-Thihli 2 collaborations

Aisha Al Shamsi 2 collaborations

Eva Morava 2 collaborations

Sunnie Y Wong 2 collaborations

Jill V Hunter 2 collaborations

Stephanie Efthymiou 2 collaborations

Henry Houlden 2 collaborations

Shuk Ching Chong 1 collaboration

Ye Cao 1 collaboration

Eva L W Fung 1 collaboration

Soledad Kleppe 1 collaboration

Karen W Gripp 1 collaboration

Gary Clark 1 collaboration

Gretchen von Allmen 1 collaboration

Olga Rodziyevska 1 collaboration

Richard A Lewis 1 collaboration

Jie Dong 1 collaboration

Xia Wang 1 collaboration

Marcus J Miller 1 collaboration

Weimin Bi 1 collaboration

Fernando Scaglia 1 collaboration

Najim Ameziane 1 collaboration

Maria Eugenia Rocha 1 collaboration

Pilar Guatibonza 1 collaboration

Catarina Pereira 1 collaboration

Maria Calvo 1 collaboration

Natalia Herrera-Ordonez 1 collaboration

Monica Segura-Castel 1 collaboration

Michal Zawada 1 collaboration

Martin Werber 1 collaboration

Omid Paknia 1 collaboration

Susan Zielske 1 collaboration

Dimitar Ugrinovski 1 collaboration

Gitte Warnack 1 collaboration

Marius-Ionuț Iurașcu 1 collaboration

Claudia Cozma 1 collaboration

Florian Vogel 1 collaboration

Amal Alhashem 1 collaboration

Abdulrahman Faiz Alswaid 1 collaboration

Wafaa Eyaid 1 collaboration

Fuad Al Mutairi 1 collaboration

Ahmed Alfares 1 collaboration

Mohammed A Albalwi 1 collaboration

Nouriya Abbas Al-Sannaa 1 collaboration

Willie Reardon 1 collaboration

Yasemin Alanay 1 collaboration

Arndt Rolfs 1 collaboration

Sónia Barbosa 1 collaboration

Stephanie Greville-Heygate 1 collaboration

Maxime Bonnet 1 collaboration

Annie Godwin 1 collaboration

Christine Fagotto-Kaufmann 1 collaboration

Andrey V Kajava 1 collaboration

Damien Laouteouet 1 collaboration

Rebecca Mawby 1 collaboration

Htoo Aung Wai 1 collaboration

Alexander J M Dingemans 1 collaboration

Jayne Hehir-Kwa 1 collaboration

Marjorlaine Willems 1 collaboration

Yline Capri 1 collaboration

Sarju G Mehta 1 collaboration

Helen Cox 1 collaboration

David Goudie 1 collaboration

Fleur Vansenne 1 collaboration

Peter Turnpenny 1 collaboration

Marie Vincent 1 collaboration

Benjamin Cogné 1 collaboration

Gaëtan Lesca 1 collaboration

Diana Rodriguez 1 collaboration

Boris Keren 1 collaboration

Lydie Burglen 1 collaboration

Marion Gérard 1 collaboration

Audrey Putoux 1 collaboration

Marlene Rio 1 collaboration

Ajoy Sarkar 1 collaboration

Marcie Steeves 1 collaboration

Michael Parker 1 collaboration

Emma Clement 1 collaboration

Sébastien Moutton 1 collaboration

Frédéric Tran Mau-Them 1 collaboration

Amélie Piton 1 collaboration

Bert B A de Vries 1 collaboration

Matthew Guille 1 collaboration

Anne Debant 1 collaboration

Susanne Schmidt 1 collaboration

Diana Baralle 1 collaboration

Tassos Grammatikopoulos 1 collaboration

Nedim Hadzic 1 collaboration

Pierre Foskett 1 collaboration

Sandra Strautnieks 1 collaboration

Marianne Samyn 1 collaboration

Roshni Vara 1 collaboration

Anil Dhawan 1 collaboration

Obydur Rahman 1 collaboration

Maesha Deheragoda 1 collaboration

Laura N Bull 1 collaboration

Richard J Thompson 1 collaboration

Robin N Stringer 1 collaboration

Bohumila Jurkovicova-Tarabova 1 collaboration

Ivana A Souza 1 collaboration

Judy Ibrahim 1 collaboration

Tomas Vacik 1 collaboration

Waseem Mahmoud Fathalla 1 collaboration

Gerald W Zamponi 1 collaboration

Lubica Lacinova 1 collaboration

Norbert Weiss 1 collaboration

Nuha Al Zaabi 1 collaboration

Amal M Al Teneiji 1 collaboration

Fatmah Saeed Ali Almesmari 1 collaboration

Arwa Mohammad Saleh Ali 1 collaboration

Mohammed Ahmed Ali Mohamed Ahmed Aldhanhani 1 collaboration

Ranjit Vijayan 1 collaboration

Amal Al Tenaiji 1 collaboration

Sirine Saleh 1 collaboration

Ela Beyyumi 1 collaboration

Aysha Al Kaabi 1 collaboration

Doaa Barakat 1 collaboration

Noura S Al Dhaheri 1 collaboration

Federica Conte 1 collaboration

Nurulamin Abu Bakar 1 collaboration

Saskia B Wortmann 1 collaboration

Anne Jonge Poerink 1 collaboration

Stephanie Grunewald 1 collaboration

Ellen Crushell 1 collaboration

Maaike C de Vries 1 collaboration

Lars Mørkrid 1 collaboration

Katja S Brocke Holmefjord 1 collaboration

David Kronn 1 collaboration

Annette Feigenbaum 1 collaboration

Ralph Fingerhut 1 collaboration

Monique van Scherpenzeel 1 collaboration

Nicol C Voermans 1 collaboration

Dirk J Lefeber 1 collaboration

Silvia Radenkovic 1 collaboration

Matthew J Bird 1 collaboration

Tim L Emmerzaal 1 collaboration

Catarina Felgueira 1 collaboration

Kyle M Stiers 1 collaboration

Leila Sabbagh 1 collaboration

Nastassja Himmelreich 1 collaboration

Gernot Poschet 1 collaboration

Petra Windmolders 1 collaboration

Jan Verheijen 1 collaboration

Peter Witters 1 collaboration

Ruqaiah Altassan 1 collaboration

Tomas Honzik 1 collaboration

Tuba F Eminoglu 1 collaboration

Phillip M James 1 collaboration

Andrew C Edmondson 1 collaboration

Tamas Kozicz 1 collaboration

Christian Thiel 1 collaboration

Pieter Vermeersch 1 collaboration

David Cassiman 1 collaboration

Lesa Beamer 1 collaboration

Bart Ghesquière 1 collaboration

Atteeq U Rehman 1 collaboration

Maryam Najafi 1 collaboration

Marios Kambouris 1 collaboration

Periklis Makrythanasis 1 collaboration

Abolfazl Rad 1 collaboration

Anna Rajab 1 collaboration

Zornitza Stark 1 collaboration

Zeineb Bakey 1 collaboration

Mari J Tokita 1 collaboration

Weimin He 1 collaboration

Francesco Vetrini 1 collaboration

Andrea Petersen 1 collaboration

Federico A Santoni 1 collaboration

Hanan Hamamy 1 collaboration

Kaman Wu 1 collaboration

Martin Helmstädter 1 collaboration

Sebastian J Arnold 1 collaboration

Fan Xia 1 collaboration

Christopher Richmond 1 collaboration

GholamReza Karami Madani 1 collaboration

Sebastian Lunke 1 collaboration

Hatem El-Shanti 1 collaboration

Christine M Eng 1 collaboration

Stylianos E Antonarakis 1 collaboration

Magdalena Walkiewicz 1 collaboration

Yaping Yang 1 collaboration

Miriam Schmidts 1 collaboration

Sagar J Pathak 1 collaboration

James L Mueller 1 collaboration

Kevin Okamoto 1 collaboration

Barun Das 1 collaboration

Lynn Greenhalgh 1 collaboration

Trevor Cole 1 collaboration

Vered Pinsk 1 collaboration

Baruch Yerushalmi 1 collaboration

Odul E Gurkan 1 collaboration

Michael Yourshaw 1 collaboration

Erick Hernandez 1 collaboration

Sandy Oesterreicher 1 collaboration

Sandhia Naik 1 collaboration

Ian R Sanderson 1 collaboration

Irene Axelsson 1 collaboration

Daniel Agardh 1 collaboration

C Richard Boland 1 collaboration

Martin G Martin 1 collaboration

Christopher D Putnam 1 collaboration

Mamata Sivagnanam 1 collaboration

Maria Iqbal 1 collaboration

Büşranur Çavdarlı 1 collaboration

Florence Riccardi 1 collaboration

Michael Field 1 collaboration

Dalal K Bubshait 1 collaboration

Yun Li 1 collaboration

Shahid Mahmood Baig 1 collaboration

David Dyment 1 collaboration

Uzma Abdullah 1 collaboration

Ehtisham Ul Haq Makhdoom 1 collaboration

Zafar Ali 1 collaboration

Tobias Scherf de Almeida 1 collaboration

Florence Molinari 1 collaboration

Cécile Mignon-Ravix 1 collaboration

Brigitte Chabrol 1 collaboration

Jayne Antony 1 collaboration

Lesley Ades 1 collaboration

Alistair T Pagnamenta 1 collaboration

Adam Jackson 1 collaboration

Sofia Douzgou 1 collaboration

Vasiliki Karageorgou 1 collaboration

Barbara Vona 1 collaboration

Aboulfazl Rad 1 collaboration

Jamshaid Mahmood Baig 1 collaboration

Tipu Sultan 1 collaboration

Javeria Raza Alvi 1 collaboration

Shazia Maqbool 1 collaboration

Fatima Rahman 1 collaboration

Mehran Beiraghi Toosi 1 collaboration

Farah Ashrafzadeh 1 collaboration

Shima Imannezhad 1 collaboration

Yasra Sarwar 1 collaboration

Sheraz Khan 1 collaboration

Muhammad Jameel 1 collaboration

Angelika A Noegel 1 collaboration

Birgit Budde 1 collaboration

Janine Altmüller 1 collaboration

Susanne Motameny 1 collaboration

Wolfgang Höhne 1 collaboration

Peter Nürnberg 1 collaboration

Bernd Wollnik 1 collaboration

Laurent Villard 1 collaboration

Fowzan Sami Alkuraya 1 collaboration

Matthew Osmond 1 collaboration

Muhammad Sajid Hussain 1 collaboration

Gökhan Yigit 1 collaboration

Osama Hamdoun 1 collaboration

Asia Al Mulla 1 collaboration

Shamma Al Zaabi 1 collaboration

Hiba Shendi 1 collaboration

Sharifa Al Ghamdi 1 collaboration

Amar Al-Shibli 1 collaboration

Dana Marafi 1 collaboration

Tadahiro Mitani 1 collaboration

Sedat Isikay 1 collaboration

Mohammed Almannai 1 collaboration

Kandamurugu Manickam 1 collaboration

Rami Abou Jamra 1 collaboration

Jaishen Rajah 1 collaboration

Jawid M Fatih 1 collaboration

Haowei Du 1 collaboration

Ender Karaca 1 collaboration

Yavuz Bayram 1 collaboration

Jaya Punetha 1 collaboration

Shalini N Jhangiani 1 collaboration

Eric Boerwinkle 1 collaboration

Zeynep C Akdemir 1 collaboration

Serkan Erdin 1 collaboration

Richard A Gibbs 1 collaboration

Davut Pehlivan 1 collaboration

Jennifer E Posey 1 collaboration

James R Lupski 1 collaboration

Osama Y Al-Dirbashi 1 collaboration

Claus-Dieter Langhans 1 collaboration

Zalikha Al Hammadi 1 collaboration

Aisha Al-Shamsi 1 collaboration

Jürgen G Okun 1 collaboration

Georg F Hoffmann 1 collaboration

Elena Perenthaler 1 collaboration

Anita Nikoncuk 1 collaboration

Soheil Yousefi 1 collaboration

Woutje M Berdowski 1 collaboration

Maysoon Alsagob 1 collaboration

Ivan Capo 1 collaboration

Herma C van der Linde 1 collaboration

Paul van den Berg 1 collaboration

Edwin H Jacobs 1 collaboration

Darija Putar 1 collaboration

Mehrnaz Ghazvini 1 collaboration

Eleonora Aronica 1 collaboration

Wilfred F J van IJcken 1 collaboration

Walter G de Valk 1 collaboration

Evita Medici-van den Herik 1 collaboration

Marjon van Slegtenhorst 1 collaboration

Lauren Brick 1 collaboration

Mariya Kozenko 1 collaboration

Jennefer N Kohler 1 collaboration

Jonathan A Bernstein 1 collaboration

Kristin G Monaghan 1 collaboration

Amber Begtrup 1 collaboration

Rebecca Torene 1 collaboration

Amna Al Futaisi 1 collaboration

Fathiya Al Murshedi 1 collaboration

Renjith Mani 1 collaboration

Faisal Al Azri 1 collaboration

Erik-Jan Kamsteeg 1 collaboration

Majid Mojarrad 1 collaboration

Atieh Eslahi 1 collaboration

Zaynab Khazaei 1 collaboration

Fateme Massinaei Darmiyan 1 collaboration

Mohammad Doosti 1 collaboration

Jana Vandrovcova 1 collaboration

Faisal Zafar 1 collaboration

Nuzhat Rana 1 collaboration

Mohammed A AlMuhaizea 1 collaboration

Mustafa A Salih 1 collaboration

Mazhor Aldosary 1 collaboration

Rawan Almass 1 collaboration

Laila Al-Quait 1 collaboration

Wafa Qubbaj 1 collaboration

Serdar Coskun 1 collaboration

Khaled O Alahmadi 1 collaboration

Muddathir H A Hamad 1 collaboration

Salem Alwadaee 1 collaboration

Khalid Awartani 1 collaboration

Anas M Dababo 1 collaboration

Futwan Almohanna 1 collaboration

Dilek Colak 1 collaboration

Mohammadreza Dehghani 1 collaboration

Mohammad Yahya Vahidi Mehrjardi 1 collaboration

Murat Gunel 1 collaboration

A Gulhan Ercan-Sencicek 1 collaboration

Gouri Rao Passi 1 collaboration

Huma Arshad Cheema 1 collaboration

Alice S Brooks 1 collaboration

Kyle Retterer 1 collaboration

Namik Kaya 1 collaboration

Tjakko J van Ham 1 collaboration

Tahsin Stefan Barakat 1 collaboration

Hanadi A Abdelrahman 1 collaboration

Nadia Akawi 1 collaboration

Anne John 1 collaboration

Bassam R Ali 1 collaboration

Marisa I Mendes 1 collaboration

Lydia M C Green 1 collaboration

Enrico Bertini 1 collaboration

Davide Tonduti 1 collaboration

Chiara Aiello 1 collaboration

Desiree Smith 1 collaboration

Ettore Salsano 1 collaboration

Shanice Beerepoot 1 collaboration

Sarah von Spiczak 1 collaboration

John H Livingston 1 collaboration

Lisa Emrick 1 collaboration

Jamie Fraser 1 collaboration

Laura Russell 1 collaboration

Genevieve Bernard 1 collaboration

Stefania Magri 1 collaboration

Daniela Di Bella 1 collaboration

Franco Taroni 1 collaboration

Mary K Koenig 1 collaboration

Isabella Moroni 1 collaboration

Gerarda Cappuccio 1 collaboration

Nicola Brunetti-Pierri 1 collaboration

Jullie Rhee 1 collaboration

Bryce A Mendelsohn 1 collaboration

Ingo Helbig 1 collaboration

Katherine Helbig 1 collaboration

Hiltrud Muhle 1 collaboration

Omar Ismayl 1 collaboration

Adeline L Vanderver 1 collaboration

Gajja S Salomons 1 collaboration

Marjo S van der Knaap 1 collaboration

Nicole I Wolf 1 collaboration

Denise Aldrian 1 collaboration

Georg F Vogel 1 collaboration

Teresa K Frey 1 collaboration

Hasret Ayyıldız Civan 1 collaboration

Aysel Ünlüsoy Aksu 1 collaboration

Yaron Avitzur 1 collaboration

Ester Ramos Boluda 1 collaboration

Murat Çakır 1 collaboration

Arzu Meltem Demir 1 collaboration

Caroline Deppisch 1 collaboration

Hans-Christoph Duba 1 collaboration

Gesche Düker 1 collaboration

Patrick Gerner 1 collaboration

Jarmila Hornová 1 collaboration

Simone Kathemann 1 collaboration

Jutta Koeglmeier 1 collaboration

Arsinoi Koutroumpa 1 collaboration

Roland Lanzersdorfer 1 collaboration

Raffi Lev-Tzion 1 collaboration

Rosa Lima 1 collaboration

Sahar Mansour 1 collaboration

Manfred Meissl 1 collaboration

Jan Melek 1 collaboration

Mohamad Miqdady 1 collaboration

Jorge Hernan Montoya 1 collaboration

Carsten Posovszky 1 collaboration

Yelena Rachman 1 collaboration

Tania Siahanidou 1 collaboration

Merit Tabbers 1 collaboration

Holm H Uhlig 1 collaboration

Sevim Ünal 1 collaboration

Stefan Wirth 1 collaboration

Frank M Ruemmele 1 collaboration

Michael W Hess 1 collaboration

Lukas A Huber 1 collaboration

Thomas Müller 1 collaboration

Ekkehard Sturm 1 collaboration

Andreas R Janecke 1 collaboration

Korbinian M Riedhammer 1 collaboration

Anna L Burgemeister 1 collaboration

Jeanne Amiel 1 collaboration

Nathalie Boddaert 1 collaboration

Patricia L Kannouche 1 collaboration

Caroline Pouvelle 1 collaboration

Stephanie Htun 1 collaboration

Anne M Slavotinek 1 collaboration

Nicole Fleischer 1 collaboration

Zain Awamleh 1 collaboration

Rosanna Weksberg 1 collaboration

Robert Kopajtich 1 collaboration

Thomas Meitinger 1 collaboration

Affiliations

Publications (24)

Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.

Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy.

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.

Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO1.

De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy.

Endothelial Dysfunction and the Effect of Arginine and Citrulline Supplementation in Children and Adolescents With Mitochondrial Diseases.

Clinical, Biochemical, and Genetic Heterogeneity in Glutaric Aciduria Type II Patients.

Spectrum of neuro-genetic disorders in the United Arab Emirates national population.

Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.

The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG.

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.

EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome.

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.

Unique Mutation in SP110 Resulting in Hepatic Veno-Occlusive Disease with Immunodeficiency.

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.

Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism.

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.

Bi-allelic null variant in matrix metalloproteinase-15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive.

RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.

Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations.

Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.

Case Report: Reinterpretation and Reclassification of

Réseau de co-auteurs