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Gael Nicolas

PUPH

University of Rouen

France

Research Interests

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Articles (20)

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Collaborators (22)

Bruno J. Gonzalez

FRANCE

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Pau Pastor

Institut Català de la Salut

SPAIN

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Miguel Calero

Instituto de Salud Carlos III

SPAIN

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Clive Holmes

University of Southampton

UNITED KINGDOM

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Sonja Scholz

National Institute of Neurological Disorders and Stroke

UNITED STATES

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Jordi Pérez-Tur

Coordinador Adjunto al Área Global Vida

Agencia Estatal Consejo Superior de Investigaciones Científicas

SPAIN

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Harald Hampel

Chief Medical Officer (CMO), Senior Vice President

Eisai Inc

UNITED STATES

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Eric Pasmant

Head

Institut Curie

FRANCE

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Jean-Charles Lambert

Head of research unit

INSERM

FRANCE

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Giulietta Riboldi

Executive Director

NYU Langone Medical Center

UNITED STATES

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Sarah Baer

Chief of resident

Hôpitaux universitaires de Strasbourg

FRANCE

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Wojciech Galej

Group leader

European Molecular Biology Laboratory (EMBL)

FRANCE

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Elsa Leitão

Universitätsklinikum Essen Institut für Humangenetik

GERMANY

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Jeroen van Rooij

Assistant professor

Erasmus University Rotterdam

NETHERLANDS

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Florence Petit

Université de Lille

FRANCE

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Sami Heikkinen

Research Director

University of Eastern Finland

FINLAND

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Peter Holmans

Professor of Biostatistics and Genetic Epidemiology

Cardiff University

UNITED KINGDOM

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Dan Rujescu

Head of Clinical Division of General Psychiatry

Medical University of Vienna

AUSTRIA

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FALLUEL-MOREL Anthony

University of Rouen

FRANCE

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Alfredo Ramirez

University of Texas Health Science Center at San Antonio

UNITED STATES

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Lutz Froelich

Head

Zentralinstitut für Seelische Gesundheit

GERMANY

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Flavio Faletra

Docenti di ruolo di IIa fascia

University of Udine

ITALY

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Gael Nicolas

Research Interests

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Articles (20)

The Chornobyl Dogs: Why Scientific Evaluation Must Accompany Population Management

Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies.

Comprehensive Analysis of the Placenta–Cortex Transcriptomic Database Reveals a Neuroactive Ligand–Receptor Dysregulation After Prenatal Alcohol Exposure

A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions.

Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

Primary Brain Calcification: An International Consensus on Nomenclature, Diagnosis, Evaluation, and Management.

Regulation of Aldosterone Secretion by Substance P and the Neurokinin Type 1 Receptor in Aldosterone-Producing Adenomas.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with &lt;i&gt;NF1&lt;/i&gt; point variants.

Machine learning in Alzheimer’s disease genetics

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Assessment of the transcriptomic consequences and MAU2 protein levels in edited induced pluripotent stem cells with <i>NIPBL</i> pathogenic variants.

Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development.

Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer''s disease.

French guidelines for the diagnosis and management of pure hereditary spastic paraplegia.

Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.

Novel VAC14 Variants Identified in a Patient with Striatonigral Degeneration and Prolonged Survival.

Parental germline mosaicism in genome-wide phased de novo variants: Recurrence risk assessment and implications for precision genetic counselling.

RRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications.

Collaborators (22)

Bruno J. Gonzalez

Pau Pastor

Miguel Calero

Clive Holmes

Sonja Scholz

Jordi Pérez-Tur

Harald Hampel

Eric Pasmant

Jean-Charles Lambert

Giulietta Riboldi

Sarah Baer

Wojciech Galej

Elsa Leitão

Jeroen van Rooij

Florence Petit

Sami Heikkinen

Peter Holmans

Dan Rujescu

FALLUEL-MOREL Anthony

Alfredo Ramirez

Lutz Froelich

Flavio Faletra

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Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with <i>NF1</i> point variants.