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MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype

T. Smol , F. Petit , A. Piton , B. Keren , D. Sanlaville et al.
neurogenetics, 2018, 19 (2), pp.93-103. ⟨10.1007/s10048-018-0541-0⟩
Article dans une revue hal-02393664v1

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.

Paul Kuentz , Judith Saint-Onge , Yannis Duffourd , Jean-Benoît Courcet , Virginie Carmignac et al.
Genetics in Medicine, 2017, 19 (9), pp.989-997. ⟨10.1038/gim.2016.220⟩
Article dans une revue hal-01560452v1

Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases

S. Baer , A. Afenjar , T. Smol , A. Piton , B. Gérard et al.
Clinical Genetics, 2018, 94 (1), pp.141-152. ⟨10.1111/cge.13254⟩
Article dans une revue hal-02393652v1
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Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing

Elodie Girard , Séverine Eon‐marchais , Robert E Olaso , Anne‐laure Renault , Francesca Damiola et al.
International Journal of Cancer, 2019, 144 (8), pp.1962-1974. ⟨10.1002/ijc.31921⟩
Article dans une revue inserm-02438452v1

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations

M. Lefebvre , A. L. Bruel , E. Tisserant , N. Bourgon , Y. Duffourd et al.
Journal of Medical Genetics, 2021, 58 (6), pp.400-413. ⟨10.1136/jmedgenet-2020-106867⟩
Article dans une revue inserm-03231676v1
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De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

Sophie Nambot , Laurence Faivre , Ghayda Mirzaa , Julien Thevenon , Ange-Line Bruel et al.
European Journal of Human Genetics, 2020, 28 (6), pp.770-782. ⟨10.1038/s41431-020-0571-6⟩
Article dans une revue inserm-03846561v1