S. Grotto

发表

Phenotype–genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature

E. Bourel-ponchel, C. Rooryck, D. Lacombe, 2015, American journal of medical genetics. Part A.

The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care

F. Rivier, F. Chapon, C. Richelme, 2019, Orphanet Journal of Rare Diseases.

Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders

N. Philip, P. Calvas, N. Lévy, 2019, Orphanet Journal of Rare Diseases.

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance

G. Captier, H. Kayserili, M. Vezain, 2018, American journal of medical genetics. Part A.

Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly.

J. Schuurs-Hoeijmakers, V. Drouin‐Garraud, H. van Bokhoven, 2014, European journal of medical genetics.

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

R. Pfundt, B. D. de Vries, M. Shinawi, 2021, Genetics in Medicine.

Clinical impact of post-mortem genetic testing in cardiac death and cardiomyopathy

P. Charron, P. Fornés, P. Richard, 2020, Open medicine.

Deficiency of U4atac snRNA secondarily results in ciliary defects

A. Leutenegger, R. Bordonné, T. Attié-Bitach, 2021, medRxiv.

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

A. Munnich, C. Fallet-Bianco, I. Gut, 2021, Journal of Medical Genetics.

NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder

A. Verloes, J. Xavier, A. Delahaye-Duriez, 2018, Clinical genetics.

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A

P. Jouk, F. Escande, C. Goizet, 2020, Human mutation.

Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients

G. Captier, M. Vezain, J. Roume, 2022, American journal of medical genetics. Part A.

Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients.

R. Touraine, T. Frebourg, J. Roume, 2016, Journal of neuromuscular diseases.

Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder

A. Toutain, A. Verloes, B. Gérard, 2021, Human mutation.

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

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

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

J. Rivière, A. Boland, J. Deleuze, 2021, Genetics in Medicine.

De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.

N. Drouot, P. V. Van Ness, A. Goldman, 2020, American journal of human genetics.

Highly clustered de novo frameshift variants in the neuronal splicing factor NOVA2 result in a specific abnormal C terminal part and cause a severe form of intellectual disability with autistic features

N. Drouot, A. Goldman, A. Telegrafi, 2019, bioRxiv.

Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1

J. Nectoux, J. Dupont, J. Amiel, 2022, Birth defects research.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Ellen F. Macnamara, J. Constantino, J. Graham, 2023, Science advances.

OP0062 Assessment of biotherapies' efficacy in blau syndrome: data from an international retrospective cohort of 23 cases

L. Punzi, I. Touitou, J. Sibilia, 2017 .

Clinical, genetic and biochemical signatures of RBP4-related ocular malformations

R. Holt, N. Chassaing, D. Bax, 2023, Journal of Medical Genetics.

DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy

J. Melki, A. Laquérriere, C. Dupont, 2023, Clinical genetics.

Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

J. Rivière, A. Boland, J. Deleuze, 2021, Genetics in Medicine.

Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish

A. Leutenegger, S. Mazoyer, R. Bordonné, 2023, Proceedings of the National Academy of Sciences of the United States of America.