S. Naudion

L. Faivre, J. Bacchetta, M. Gérard, 2019, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)

G. Jondeau, D. Lacombe, L. Faivre, 2019, Genetics in Medicine.

CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays

J. Melki, S. Julia, P. Jouk, 2018, European Journal of Human Genetics.

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

J. Laplanche, S. Julia, A. Toutain, 2015, Genetics in Medicine.

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

J. Stoler, C. Garel, C. Depienne, 2017, Human Genetics.

De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy

R. Pfundt, B. D. de Vries, C. Gilissen, 2019, Genetics in Medicine.

Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome

G. Jondeau, D. Lacombe, G. Collod-Béroud, 2016, Journal of Medical Genetics.

Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination

A. Laquérriere, C. Rooryck, M. Martin-Négrier, 2020, Acta Neuropathologica Communications.

Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance

Kenneth G. C. Smith, R. Döffinger, Y. Modis, 2019, The Journal of experimental medicine.

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

A. Munnich, S. Julia, A. Toutain, 2019, Genetics in Medicine.

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Golder N Wilson, J. Rosenfeld, R. Pfundt, 2022, Molecular Psychiatry.

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

J. Melki, A. Toutain, A. Verloes, 2021, Orphanet Journal of Rare Diseases.

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool

C. Rooryck, L. Pasquier, E. Colin, 2023, Frontiers in Genetics.

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

J. Rosenfeld, E. Roeder, J. Lupski, 2023, American journal of human genetics.

Lessons learned from 40 novel PIGA patients and a review of the literature

C. Depienne, A. Afenjar, A. Jezela-Stanek, 2020, Epilepsia.

Human IL-2 receptor β mutations associated with defects in immunity and peripheral tolerance

Y. Modis, L. Notarangelo, P. Pennamen, 2018, bioRxiv.

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum

P. Fergelot, A. Mégarbané, N. Chassaing, 2016, Journal of Human Genetics.

Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations

P. Fergelot, J. Toutain, D. Lacombe, 2019, Clinical genetics.

P. Fergelot, F. Alkuraya, P. Bayrak-Toydemir, 2023, Journal of Medical Genetics.

[Cardiac tamponade with anterior interventricular vein thrombosis complicating central venous catheter insertion in a neonate].

M. Legendre, F. Pelluard, D. Carles, 2012, Annales de pathologie.