Sarah Grotto

Maternité Port Royal
Paris, France

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 33 publications

Recurrence of occipital meningocele in 2 fetal sibs due to monoallelic MSX2 variant.

Recurrence of occipital meningocele in 2 fetal sibs due to monoallelic MSX2 variant.

Journal: European journal of medical genetics

Published: October 08, 2025

A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies.

A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies.

Journal: Brain : a journal of neurology

Published: December 31, 2024

Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease.

Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease.

Journal: EMBO molecular medicine

Published: April 05, 2024

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

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

Journal: European journal of human genetics : EJHG

Published: September 03, 2023

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

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

Journal: Journal of assisted reproduction and genetics

Published: August 03, 2023

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

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

Journal: American journal of medical genetics. Part A

Published: July 28, 2023

Prenatal diagnosis of SLC25A24 Fontaine progeroid syndrome: description of the fetal phenotype, genotype and detection of parental mosaicism.

Prenatal diagnosis of SLC25A24 Fontaine progeroid syndrome: description of the fetal phenotype, genotype and detection of parental mosaicism.

Journal: Birth defects research

Published: June 22, 2023

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

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

Journal: Prenatal diagnosis

Published: April 30, 2023

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

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

Journal: Journal of medical genetics

Published: April 12, 2023

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

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

Journal: Clinical genetics

Published: April 03, 2023

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Journal: Science advances

Published: March 10, 2023

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

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

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: February 21, 2023

Showing 1-12 of 33

Last Updated: 09/26/2026