Séverine Drunat

Alain Verloes 9 collaborations

Sandrine Passemard 8 collaborations

Severine Drunat 8 collaborations

Yoann Vial 7 collaborations

Imen Dorboz 5 collaborations

Odile Boespflug-Tanguy 4 collaborations

Fabien Guimiot 4 collaborations

Yline Capri 4 collaborations

Lyse Ruaud 3 collaborations

None None 3 collaborations

Vincent El Ghouzzi 3 collaborations

Mutaz Amin 3 collaborations

Cedric Vignal 3 collaborations

Esraa Eltaraifee 3 collaborations

Inaam N Mohammed 3 collaborations

Ahlam A A Hamed 3 collaborations

Maha A Elseed 3 collaborations

Arwa Babai 3 collaborations

Rayan Abubaker 3 collaborations

Liena E O Elsayed 3 collaborations

Ammar E Ahmed 3 collaborations

Jonathan Lévy 3 collaborations

Adeline A Bonnard 3 collaborations

Pierre Gressens 3 collaborations

Hélène Cavé 3 collaborations

Anne-Claude Tabet 3 collaborations

Boris Keren 3 collaborations

Bertrand Isidor 3 collaborations

Marc Abramowicz 2 collaborations

Monique Elmaleh-Bergès 2 collaborations

Anais Ernault 2 collaborations

Sophie Guilmin Crepon 2 collaborations

Stéphane Auvin 2 collaborations

Iman Elbadi 2 collaborations

Doua Mustafa 2 collaborations

Mohamed Mustafa 2 collaborations

Shivarajan M Amudhavalli 2 collaborations

Jelena Martinovic 2 collaborations

Ashraf Yahia 2 collaborations

Mahmoud Koko 2 collaborations

Melka Osman 2 collaborations

Yousuf Bakhit 2 collaborations

Azza Elshafea 2 collaborations

Mohamed Alsiddig 2 collaborations

Sahwah Haroun 2 collaborations

Pascale Saugier-Veber 2 collaborations

Katharina Steindl 2 collaborations

Alexandra Afenjar 2 collaborations

Delphine Héron 2 collaborations

Marcella Zollino 2 collaborations

Anita Rauch 2 collaborations

Jean-Hugues Dalle 2 collaborations

Damien Haye 2 collaborations

Laurence Perrin 2 collaborations

Céline Dupont 2 collaborations

Cyril Mignot 2 collaborations

Sandra Whalen 2 collaborations

Olivier Pichon 2 collaborations

Albert David 2 collaborations

Laurence Faivre 2 collaborations

Christèle Dubourg 2 collaborations

Mélanie Fradin 2 collaborations

Annick Toutain 2 collaborations

Richard Delorme 2 collaborations

Jonathan Levy 2 collaborations

Marie Vincent 2 collaborations

Sarah Duerinckx 1 collaboration

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Thomas Rolland 1 collaboration

Marie Ducloy 1 collaboration

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Sharyn Lincoln 1 collaboration

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Marie Hully 1 collaboration

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Affiliations

Publications (27)

Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways.

Neurological outcome in WDR62 primary microcephaly.

A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability.

Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.

Human neuropathology confirms projection neuron and interneuron defects and delayed oligodendrocyte production and maturation in FOXG1 syndrome.

New

Mcph1, mutated in primary microcephaly, is also crucial for erythropoiesis.

Tremor Ataxia With Central Hypomyelation Phenotype Related to a Recurrent POLR3A Mutation in Six Unrelated Tunisian Families.

Evaluation of CSF1R-related adult onset leukoencephalopathy with axonal spheroids and pigmented glia diagnostic criteria.

Novel variants causing megalencephalic leukodystrophy in Sudanese families.

Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy.

Complex

Assessment of chimerism and immunomodulation to prevent post-transplantation relapse in childhood acute myeloblastic leukemia: is it the right approach?

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.

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

Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.

Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.

Clinical and Molecular Features of 5 European Multigenerational Families With Moyamoya Angiopathy.

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.

Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder.

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.

Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan.

De novo NUF2 variant in a novel inherited bone marrow failure syndrome including microcephaly and renal hypoplasia.

LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD.

Germline bi-allelic

Réseau de co-auteurs