Joseph G Gleeson

Maha S Zaki 9 collaborations

Valentina Stanley 7 collaborations

Reza Maroofian 6 collaborations

Henry Houlden 4 collaborations

Jennifer McEvoy-Venneri 4 collaborations

Damir Musaev 3 collaborations

Lu Wang 2 collaborations

Tipu Sultan 2 collaborations

None None 2 collaborations

Yalda Jamshidi 2 collaborations

Rachel Schot 2 collaborations

Fowzan S Alkuraya 2 collaborations

Ghayda M Mirzaa 2 collaborations

William B Dobyns 2 collaborations

Grazia M S Mancini 2 collaborations

Xiaoxu Yang 2 collaborations

Sangmoon Lee 2 collaborations

Kiely N James 2 collaborations

Ehsan Ghayoor Karimiani 2 collaborations

Mehran Beiraghi Toosi 2 collaborations

Dana Marafi 2 collaborations

Jill A Rosenfeld 2 collaborations

Jill V Hunter 2 collaborations

Jennifer E Posey 2 collaborations

James R Lupski 2 collaborations

Guoliang Chai 2 collaborations

Monica Zilmer 1 collaboration

Andrew C Edmondson 1 collaboration

Sumeet A Khetarpal 1 collaboration

Viola Alesi 1 collaboration

Kevin Rostasy 1 collaboration

Camilla G Madsen 1 collaboration

Francesca R Lepri 1 collaboration

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Antonio Novelli 1 collaboration

Mahmoud Y Issa 1 collaboration

Christina D Fenger 1 collaboration

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Heiko Reutter 1 collaboration

Silvana Briuglia 1 collaboration

Emanuele Agolini 1 collaboration

Lars Hansen 1 collaboration

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John Hintze 1 collaboration

Kimiyo M Raymond 1 collaboration

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W Timothy O'Brien 1 collaboration

Elena Gardella 1 collaboration

Guido Rubboli 1 collaboration

Daniel J Rader 1 collaboration

Katrine T Schjoldager 1 collaboration

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Fred H Gage 1 collaboration

Dillon Chen 1 collaboration

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Liqun Luo 1 collaboration

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Emer O'Connor 1 collaboration

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Maria Rodriguez Lopez 1 collaboration

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Lauren Badalato 1 collaboration

Jagdeep Walia 1 collaboration

Christopher S Francklyn 1 collaboration

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Roisin Sullivan 1 collaboration

Sonal Desai 1 collaboration

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Nuzhat Rana 1 collaboration

Muhammed Ilyas 1 collaboration

Alejandro Horga 1 collaboration

Majdi Kara 1 collaboration

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Alice Goldenberg 1 collaboration

Helen Griffin 1 collaboration

Amelie Piton 1 collaboration

Lindsay B Henderson 1 collaboration

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Rolph Pfundt 1 collaboration

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Marwan Shinawi 1 collaboration

Amelia Kirby 1 collaboration

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Dagan Jenkins 1 collaboration

Jawad Ahmed 1 collaboration

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Justyna Iwaszkiewicz 1 collaboration

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Ingrid M Wentzensen 1 collaboration

Maria J Guillen Sacoto 1 collaboration

Yue Si 1 collaboration

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Marisa V Andrews 1 collaboration

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Heinz Gabriel 1 collaboration

Julia Mohr 1 collaboration

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Frédéric Fischer 1 collaboration

Conny van Ravenwaaij 1 collaboration

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Servi J C Stevens 1 collaboration

Jürg Bähler 1 collaboration

Amina Nasar 1 collaboration

John F Mantovani 1 collaboration

Adnan Manzur 1 collaboration

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Saima Riazuddin 1 collaboration

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Annette Seibt 1 collaboration

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Stylianos E Antonarakis 1 collaboration

John B Vincent 1 collaboration

Muhammad Ayub 1 collaboration

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Anne Marie Jelsig 1 collaboration

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Marybeth Hummel 1 collaboration

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Rita Horvath 1 collaboration

Hubert Becker 1 collaboration

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Maarten H Lequin 1 collaboration

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Marie Claire Y de Wit 1 collaboration

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Maria Teresa Divizia 1 collaboration

Pasquale Striano 1 collaboration

Natalia Ordonez-Herrera 1 collaboration

Amal Alhashem 1 collaboration

Ahmed Al Fares 1 collaboration

Malak Al Ghamdi 1 collaboration

Arndt Rolfs 1 collaboration

Peter Bauer 1 collaboration

Jeroen Demmers 1 collaboration

Frans W Verheijen 1 collaboration

Martina Wilke 1 collaboration

Marjon van Slegtenhorst 1 collaboration

Peter J van der Spek 1 collaboration

Marco Seri 1 collaboration

Anna C Jansen 1 collaboration

Rolf W Stottmann 1 collaboration

Robert B Hufnagel 1 collaboration

Robert J Hopkin 1 collaboration

Deema Aljeaid 1 collaboration

Wojciech Wiszniewski 1 collaboration

Pawel Gawlinski 1 collaboration

Milena Laure-Kamionowska 1 collaboration

Hanah Akleh 1 collaboration

Nicola Brunetti-Pierri 1 collaboration

Gerarda Cappuccio 1 collaboration

Bella Davidov 1 collaboration

Lina Basel-Salmon 1 collaboration

Lily Bazak 1 collaboration

Noa Ruhrman Shahar 1 collaboration

Aida Bertoli-Avella 1 collaboration

Tommaso Pippucci 1 collaboration

Maarten Fornerod 1 collaboration

Cristiana Pelorosso 1 collaboration

Françoise Watrin 1 collaboration

Valerio Conti 1 collaboration

Emmanuelle Buhler 1 collaboration

Antoinette Gelot 1 collaboration

Davide Mei 1 collaboration

Jean-Bernard Manent 1 collaboration

Valentina Cetica 1 collaboration

Laurel L Ball 1 collaboration

Anna Maria Buccoliero 1 collaboration

Antonin Vinck 1 collaboration

Carmen Barba 1 collaboration

Renzo Guerrini 1 collaboration

Alfonso Represa 1 collaboration

Dillon Y Chen 1 collaboration

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Dalia Abdin 1 collaboration

Heba Morsy 1 collaboration

Tugba Kalayci 1 collaboration

Umut Altunoglu 1 collaboration

Lauren Brick 1 collaboration

Mariya Kozenko 1 collaboration

M Chiara Manzini 1 collaboration

Devesh C Pant 1 collaboration

Imen Dorboz 1 collaboration

Agatha Schluter 1 collaboration

Stéphane Fourcade 1 collaboration

Nathalie Launay 1 collaboration

Javier Joya 1 collaboration

Sergio Aguilera-Albesa 1 collaboration

Maria Eugenia Yoldi 1 collaboration

Carlos Casasnovas 1 collaboration

Mary J Willis 1 collaboration

Montserrat Ruiz 1 collaboration

Dorothée Ville 1 collaboration

Gaetan Lesca 1 collaboration

Karine Siquier-Pernet 1 collaboration

Isabelle Desguerre 1 collaboration

Huifang Yan 1 collaboration

Jingmin Wang 1 collaboration

Margit Burmeister 1 collaboration

Lauren Brady 1 collaboration

Mark Tarnopolsky 1 collaboration

Carles Cornet 1 collaboration

Davide Rubbini 1 collaboration

Javier Terriente 1 collaboration

Marc C Patterson 1 collaboration

Brendan C Lanpher 1 collaboration

Eric W Klee 1 collaboration

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Elizabeth Wohler 1 collaboration

Nara Lygia de M Sobreira 1 collaboration

Julie S Cohen 1 collaboration

Hamid Galehdari 1 collaboration

Neda Mazaheri 1 collaboration

Gholamreza Shariati 1 collaboration

Laurence Colleaux 1 collaboration

Diana Rodriguez 1 collaboration

Cristina Pujades 1 collaboration

Ali Fatemi 1 collaboration

Odile Boespflug-Tanguy 1 collaboration

Aurora Pujol 1 collaboration

Jawid M Fatih 1 collaboration

Rauan Kaiyrzhanov 1 collaboration

Matteo P Ferla 1 collaboration

Charul Gijavanekar 1 collaboration

Aljazi Al-Maraghi 1 collaboration

Ning Liu 1 collaboration

Emily Sites 1 collaboration

Hessa S Alsaif 1 collaboration

Mohammad Al-Owain 1 collaboration

Mohamed Zakkariah 1 collaboration

Ehab El-Anany 1 collaboration

Ulviyya Guliyeva 1 collaboration

Sughra Guliyeva 1 collaboration

Colette Gaba 1 collaboration

Ateeq Haseeb 1 collaboration

Amal M Alhashem 1 collaboration

Enam Danish 1 collaboration

Vasiliki Karageorgou 1 collaboration

Christian Beetz 1 collaboration

Alaa A Subhi 1 collaboration

Sureni V Mullegama 1 collaboration

Erin Torti 1 collaboration

Monisha Sebastin 1 collaboration

Margo Sheck Breilyn 1 collaboration

Susan Duberstein 1 collaboration

Mohamed S Abdel-Hamid 1 collaboration

Tadahiro Mitani 1 collaboration

Haowei Du 1 collaboration

Shalini N Jhangiani 1 collaboration

Zeynep Coban Akdemir 1 collaboration

Richard A Gibbs 1 collaboration

Jenny C Taylor 1 collaboration

Khalid A Fakhro 1 collaboration

Davut Pehlivan 1 collaboration

V Reid Sutton 1 collaboration

Sarah H Elsea 1 collaboration

Nikoletta A Gkatza 1 collaboration

Cecilia Castro 1 collaboration

Robert F Harvey 1 collaboration

Matthias Heiß 1 collaboration

Martyna C Popis 1 collaboration

Sandra Blanco 1 collaboration

Susanne Bornelöv 1 collaboration

Abdulrahim A Sajini 1 collaboration

Julian L Griffin 1 collaboration

James A West 1 collaboration

Stefanie Kellner 1 collaboration

Anne E Willis 1 collaboration

Sabine Dietmann 1 collaboration

Michaela Frye 1 collaboration

Shereen G Ghosh 1 collaboration

Rudy Fabunan 1 collaboration

Ghada Abdel-Salam 1 collaboration

Tawfeg Ben-Omran 1 collaboration

Javeria Raza Alvi 1 collaboration

Aakash Patel 1 collaboration

Danica Ross 1 collaboration

Jeffrey Ding 1 collaboration

Mohit Jain 1 collaboration

Daqiang Pan 1 collaboration

Philipp Lübbert 1 collaboration

Bernd Kammerer 1 collaboration

Nils Wiedemann 1 collaboration

Nanda M Verhoeven-Duif 1 collaboration

Judith J Jans 1 collaboration

David Murphy 1 collaboration

Farah Ashrafzadeh 1 collaboration

Shima Imannezhad 1 collaboration

Khalid Ibrahim 1 collaboration

Elizabeth R Waters 1 collaboration

Chunmei Li 1 collaboration

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Christine Kondratev 1 collaboration

Justine Rousseau 1 collaboration

Ah Jung Heo 1 collaboration

Katherine Neas 1 collaboration

Brett H Graham 1 collaboration

Carlos A Bacino 1 collaboration

Matias Wagner 1 collaboration

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Fuad Al Mutairi 1 collaboration

Hamad Al Deiab 1 collaboration

Yong Tae Kwon 1 collaboration

Michel R Leroux 1 collaboration

Philippe M Campeau 1 collaboration

Martin W Breuss 1 collaboration

Johannes C M Schlachetzki 1 collaboration

Danny Antaki 1 collaboration

Addison J Lana 1 collaboration

Xin Xu 1 collaboration

Changuk Chung 1 collaboration

Qiong Song 1 collaboration

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An Nguyen 1 collaboration

Sydney O'Brien 1 collaboration

Marten A Hoeksema 1 collaboration

Beibei Cao 1 collaboration

Alexi Nott 1 collaboration

Martina P Pasillas 1 collaboration

Scott T Barton 1 collaboration

Brett R Copeland 1 collaboration

Shareef Nahas 1 collaboration

Lucitia Van Der Kraan 1 collaboration

Yan Ding 1 collaboration

Christopher K Glass 1 collaboration

Mohammed Almannai 1 collaboration

Ghada M H Abdel-Salam 1 collaboration

Ruizhi Duan 1 collaboration

Daniel Calame 1 collaboration

Isabella Herman 1 collaboration

Felix Levesque 1 collaboration

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Ibrahim Hegazy 1 collaboration

Wendy K Chung 1 collaboration

Haluk Kavus 1 collaboration

Kolsoum Saeidi 1 collaboration

Aqeela AlHashim 1 collaboration

Ali Al-Otaibi 1 collaboration

Asma Al Madhi 1 collaboration

Hager M Abou Al-Seood 1 collaboration

Ali Alasmari 1 collaboration

Ayman W El-Hattab 1 collaboration

Affiliations

Publications (13)

Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.

Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism.

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.

Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy.

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.

Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.

Cytosine-5 RNA methylation links protein synthesis to cell metabolism.

Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition.

UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism.

Somatic mosaicism reveals clonal distributions of neocortical development.

El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.

Réseau de co-auteurs