Sebastien Moutton

Overview

Explore the profile of Sebastien Moutton including associated specialties, affiliations and a list of published articles.

Snapshot

Articles 93

Citations 1212

Followers 0

Related Specialties

Genetics

Neurology

Molecular Biology

Top 10 Co-Authors

Laurence Faivre

Antonio Vitobello

Christophe Philippe

Ange-Line Bruel

Christel Thauvin-Robinet

Frederic Tran Mau-Them

Yannis Duffourd

Sophie Nambot

Bertrand Isidor

Julien Thevenon

Published In

Genet Med

Am J Hum Genet

Eur J Hum Genet

J Med Genet

Hum Mutat

Affiliations

Soon will be listed here.

Recent Articles

11.

Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases

Racine C, Denomme-Pichon A, Engel C, Mau-Them F, Bruel A, Vitobello A, et al.

J Med Genet . 2023 Aug; 61(1):36-46. PMID: 37586840

Purpose: Wide access to clinical exome/genome sequencing (ES/GS) enables the identification of multiple molecular diagnoses (MMDs), being a long-standing but underestimated concept, defined by two or more causal loci implicated...

12.

Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in , and

Mirchi A, Guay S, Tran L, Wolf N, Vanderver A, Brais B, et al.

J Med Genet . 2023 May; 60(10):1026-1034. PMID: 37197783

Background: RNA polymerase III-related or 4H leukodystrophy (POLR3-HLD) is an autosomal recessive hypomyelinating leukodystrophy characterized by neurological dysfunction, hypodontia and hypogonadotropic hypogonadism. The disease is caused by biallelic pathogenic variants...

13.

Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis

Mau-Them F, Overs A, Bruel A, Duquet R, Thareau M, Denomme-Pichon A, et al.

Front Genet . 2023 May; 14:1122985. PMID: 37152996

Exome sequencing has a diagnostic yield ranging from 25% to 70% in rare diseases and regularly implicates genes in novel disorders. Retrospective data reanalysis has demonstrated strong efficacy in improving...

14.

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

Mau-Them F, Delanne J, Denomme-Pichon A, Safraou H, Bruel A, Vitobello A, et al.

Front Genet . 2023 Apr; 14:1099995. PMID: 37035737

Prenatal ultrasound (US) anomalies are detected in around 5%-10% of pregnancies. In prenatal diagnosis, exome sequencing (ES) diagnostic yield ranges from 6% to 80% depending on the inclusion criteria. We...

15.

Rare variants in cause delayed development, intellectual disability, autism, and epilepsy

Paul M, Michener S, Pan H, Pfliger J, Rosenfeld J, Lerma V, et al.

medRxiv . 2023 Apr; PMID: 37034625

encodes the Protein-Tyrosine Phosphatase, Receptor-Type, F Polypeptide-Interacting Protein Alpha-3 (PPFIA3), which is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family involved in synaptic vesicle transport and presynaptic active...

16.

Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders

Colin E, Duffourd Y, Chevarin M, Tisserant E, Verdez S, Paccaud J, et al.

Front Cell Dev Biol . 2023 Mar; 11:1021920. PMID: 36926521

Multi-omics offer worthwhile and increasingly accessible technologies to diagnostic laboratories seeking potential second-tier strategies to help patients with unresolved rare diseases, especially patients clinically diagnosed with a rare OMIM (Online...

17.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Sheppard S, Bryant L, Wickramasekara R, Vaccaro C, Robertson B, Hallgren J, et al.

Sci Adv . 2023 Mar; 9(10):eade1463. PMID: 36897941

Pathogenic variants in , a lysine methyltransferase, are associated with global developmental delay, macrocephaly, autism, and congenital anomalies (OMIM 617788). Given the relatively recent discovery of this disorder, it has...

18.

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

Saffari A, Lau T, Tajsharghi H, Karimiani E, Kariminejad A, Efthymiou S, et al.

Brain . 2023 Feb; 146(8):3273-3288. PMID: 36757831

In the field of rare diseases, progress in molecular diagnostics led to the recognition that variants linked to autosomal-dominant neurodegenerative diseases of later onset can, in the context of biallelic...

19.

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Denomme-Pichon A, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, et al.

Genet Med . 2023 Jan; 25(4):100018. PMID: 36681873

Purpose: Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based...

20.

OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants

Colin E, Duffourd Y, Tisserant E, Relator R, Bruel A, Mau-Them F, et al.

Front Cell Dev Biol . 2022 Nov; 10:1021785. PMID: 36393831

Patients with rare or ultra-rare genetic diseases, which affect 350 million people worldwide, may experience a diagnostic odyssey. High-throughput sequencing leads to an etiological diagnosis in up to 50% of...