M Mahdi Motazacker

None None 3 collaborations

Pasquale Striano 3 collaborations

Boris Keren 3 collaborations

Federico Zara 3 collaborations

Raymond J Louie 3 collaborations

Marjon A van Slegtenhorst 3 collaborations

Julian A Martinez-Agosto 2 collaborations

Erin Torti 2 collaborations

Estelle Colin 2 collaborations

Matthew Osmond 2 collaborations

Caroline Nava 2 collaborations

Michele Iacomino 2 collaborations

Dominique Bonneau 2 collaborations

Jennifer Kerkhof 2 collaborations

Michael A Levy 2 collaborations

Roger E Stevenson 2 collaborations

Siddharth Banka 2 collaborations

Marielle Alders 2 collaborations

Bekim Sadikovic 2 collaborations

Cyril Mignot 2 collaborations

Naomichi Matsumoto 2 collaborations

Vandana Shashi 2 collaborations

Christophe Philippe 2 collaborations

Michael J Lyons 2 collaborations

Miroslava Hancarova 2 collaborations

Sarka Bendova 2 collaborations

Zdenek Sedlacek 2 collaborations

Saskia M Maas 2 collaborations

Ingo Helbig 2 collaborations

Rikke S Møller 2 collaborations

Mathilde Nizon 2 collaborations

Muhammad A Usmani 1 collaboration

Zubair M Ahmed 1 collaboration

Pamela Magini 1 collaboration

Victor Murcia Pienkowski 1 collaboration

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Sheikh Riazuddin 1 collaboration

Saima Riazuddin 1 collaboration

M J Wyrwoll 1 collaboration

E S van Walree 1 collaboration

G Hamer 1 collaboration

N Rotte 1 collaboration

M M Motazacker 1 collaboration

H Meijers-Heijboer 1 collaboration

M Alders 1 collaboration

A Meißner 1 collaboration

E Kaminsky 1 collaboration

M Wöste 1 collaboration

C Krallmann 1 collaboration

S Kliesch 1 collaboration

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Valerie Castelluccio 1 collaboration

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Cheryl Garganta 1 collaboration

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Hui Guo 1 collaboration

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Reza Maroofian 1 collaboration

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Judith Armstrong-Moron 1 collaboration

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Michal Tzadok 1 collaboration

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Teresa Santiago-Sim 1 collaboration

Richard E Person 1 collaboration

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Yongjin Yoo 1 collaboration

Jong-Hee Chae 1 collaboration

Yingting Quan 1 collaboration

Huidan Wu 1 collaboration

Tianyun Wang 1 collaboration

Raphael A Bernier 1 collaboration

Kun Xia 1 collaboration

Alyssa Blesson 1 collaboration

Mahim Jain 1 collaboration

Mohammad M Motazacker 1 collaboration

Bregje Jaeger 1 collaboration

Amy L Schneider 1 collaboration

Katja Boysen 1 collaboration

Alison M Muir 1 collaboration

Candace T Myers 1 collaboration

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Lauren Gunderson 1 collaboration

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Eric W Klee 1 collaboration

David Dyment 1 collaboration

Mara Parellada 1 collaboration

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Angel Carracedo 1 collaboration

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Anne Slavotinek 1 collaboration

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Bert Ba de Vries 1 collaboration

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Yuanquan Song 1 collaboration

Hakon Hakonarson 1 collaboration

Médéric Jeanne 1 collaboration

Hélène Demory 1 collaboration

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Marie-Laure Vuillaume 1 collaboration

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Judith Halewa 1 collaboration

Grazia M S Mancini 1 collaboration

Avgi Andreou 1 collaboration

Helene Cox 1 collaboration

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Affiliations

Publications (12)

De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.

Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes.

Expanding the spectrum of CEP55-associated disease to viable phenotypes.

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.

Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.

Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.

Intronic variant screening with targeted next-generation sequencing reveals first pseudoexon in LDLR in familial hypercholesterolemia.

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.

A Novel De Novo Gain-of-Function

Réseau de co-auteurs