Sarah Grotto

Tania Attié-Bitach 6 collaborations

Laurence Loeuillet 4 collaborations

Clémence Molac 3 collaborations

Jamal Ghoumid 3 collaborations

Yline Capri 3 collaborations

Sylvie Odent 3 collaborations

Laurence Faivre 3 collaborations

Sandra Whalen 3 collaborations

Juliette Nectoux 2 collaborations

Thomas Smol 2 collaborations

Lyse Ruaud 2 collaborations

Alain Verloes 2 collaborations

Annick Toutain 2 collaborations

Cyril Mignot 2 collaborations

Yannis Duffourd 2 collaborations

Diana Rodriguez 2 collaborations

Marie-Line Jacquemont 2 collaborations

Daniel Amram 2 collaborations

Laurent Guibaud 2 collaborations

David Geneviève 2 collaborations

Christophe Philippe 2 collaborations

Yves Alembik 2 collaborations

Sandrine Perol 2 collaborations

Corinne Fouveaut 2 collaborations

Camille Verebi 2 collaborations

Pénélope Jordan 2 collaborations

Philippe Touraine 2 collaborations

Geneviève Plu-Bureau 2 collaborations

Laila El Khattabi 2 collaborations

Thierry Bienvenu 2 collaborations

Sacha Weber 2 collaborations

James Lespinasse 2 collaborations

Lucile Boutaud 2 collaborations

Nicolas Bourgon 2 collaborations

Aurélie Coussement 2 collaborations

Thomas Rambaud 2 collaborations

Alice Goldenberg 2 collaborations

Agnès Guichet 2 collaborations

Caroline Michot 2 collaborations

Audrey Putoux 2 collaborations

Florence Petit 2 collaborations

Séverine Audebert-Bellanger 2 collaborations

Patrick Edery 2 collaborations

Lydie Burglen 2 collaborations

Emmanuelle Pannier 2 collaborations

Amale Achaiaa 2 collaborations

Jean Michel Dupont 2 collaborations

Ferechte Razavi 2 collaborations

Jeanne Amiel 2 collaborations

Bettina Bessières 2 collaborations

Godelieve Morel 2 collaborations

Nicole Philip 2 collaborations

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Marie-Hélène Aubriot-Lorton 1 collaboration

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Rachel G Knox 1 collaboration

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Anne Boland 1 collaboration

Robert Olaso 1 collaboration

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Sarah E Sheppard 1 collaboration

Laura Bryant 1 collaboration

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Jason Hulen 1 collaboration

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Penny Chow 1 collaboration

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Rong Mao 1 collaboration

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Affiliations

Publications (17)

Noninvasive Prenatal Diagnosis of a Paternally Inherited MEN1 Pathogenic Splicing Variant.

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

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

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

Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

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

Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct.

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

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

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

Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect.

NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights.

Neu Laxova syndrome and megacystis in the first trimester: Broadening the fetal phenotype.

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

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

Clinical, genetic and biochemical signatures of

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