Marina Konyukh

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

Claire S. Leblond, Jutta Heinrich, Richard Delorme et al. · PLoS Genetics · 2012 · 443 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Oriane Mercati, Guillaume Huguet, Anne Danckaert et al. · Molecular Psychiatry · 2016 · 78 citations · Full text

Medicine, Genetics, Molecular Genetics +17

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

Pauline Chaste, Nathalie Clément, Hany Goubran Botros et al. · Journal of Pineal Research · 2011 · 66 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Marina Konyukh, Richard Delorme, Pauline Chaste et al. · PLoS ONE · 2011 · 37 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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, Davide Callegarin et al. · Annals of Human Genetics · 2022 · 10 citations

Life Sciences, Genetics, Molecular Genetics +17