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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.
Article dans une revue
hal-02393664v1
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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.
Article dans une revue
hal-01560452v1
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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.
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.
Article dans une revue
inserm-02438452v1
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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.
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.
Article dans une revue
inserm-03846561v1
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