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Marina Konyukh | Researchclopedia

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Marina Konyukh

Université de Pau et des Pays de l'Adour

21

Works

1,005

Citations

7

h-index

7

i10-index

Research Topics

Genomics and Rare Diseases Autism Spectrum Disorder Research Genomic variations and chromosomal abnormalities

Affiliations

Centre National de la Recherche Scientifique2010–2016

Université de Pau et des Pays de l'Adour2025–2026

Inserm2025–2025

Institut Pasteur2010–2016

Délégation Paris 72012–2016

Top Works

Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

Claire S. Leblond,Jutta Heinrich,et al.

2012442 citations

Genetics and Neurodevelopmental Disorders

Hereditary Neurological Disorders

Key role for gene dosage and synaptic homeostasis in autism spectrum disorders

Roberto Toro,Marina Konyukh,et al.

2010334 citations

CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders

Oriane Mercati,Guillaume Huguet,et al.

201674 citations

Genetic variations of the melatonin pathway in patients with attention-deficit and hyperactivity disorders

Pauline Chaste,Nathalie Clément,et al.

201166 citations

Variations of the Candidate SEZ6L2 Gene on Chromosome 16p11.2 in Patients with Autism Spectrum Disorders and in Human Populations

Marina Konyukh,Richard Delorme,et al.

201137 citations

Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array‐CGH

Émilie Tisserant,Antonio Vitobello,et al.

202210 citations

Systematic analysis of snRNA genes reveals frequent <i>RNU2-2</i> variants in dominant and recessive developmental and epileptic encephalopathies

Elsa Leitão,A. Santini,et al.

20256 citations

A previously unreported <i>NARS1</i> variant causes dominant distal hereditary motor neuropathy in a French family

Julian Theuriet,Sheila Marte,et al.

20242 citations

Impact of A Multidisciplinary Team Discussion for Genetic Lung Fibrosis

Giovanni Franco,Ibrahima Ba,et al.

20252 citations