Nada Houcinat
Overview
Explore the profile of Nada Houcinat including associated specialties, affiliations and a list of published articles.
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16
Citations
220
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0
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Recent Articles
1.
Levaillant L, Bouhours-Nouet N, Illouz F, Amsellem Jager J, Bachelot A, Barat P, et al.
J Clin Endocrinol Metab
. 2023 Mar;
108(9):e779-e788.
PMID: 36884306
Introduction: Congenital hypothyroidism with gland-in-situ (CH-GIS) is usually attributed to mutations in the genes involved in thyroid hormone production. The diagnostic yield of targeted next-generation sequencing (NGS) varied widely between...
2.
Delanne J, Bruel A, Huet F, Moutton S, Nambot S, Grisval M, et al.
Mol Genet Metab Rep
. 2021 Oct;
29:100812.
PMID: 34712575
Synopsis: Exome sequencing and diagnostic rate of Inherited Metabolic Disorders in individuals with developmental disorders.
3.
Lefebvre M, Bruel A, Tisserant E, Bourgon N, Duffourd Y, Collardeau-Frachon S, et al.
J Med Genet
. 2020 Aug;
58(6):400-413.
PMID: 32732226
Purpose: Molecular diagnosis based on singleton exome sequencing (sES) is particularly challenging in fetuses with multiple congenital abnormalities (MCA). Indeed, some studies reveal a diagnostic yield of about 20%, far...
4.
Mau-Them F, Moutton S, Racine C, Vitobello A, Bruel A, Nambot S, et al.
Hum Genet
. 2020 May;
139(11):1381-1390.
PMID: 32399599
Developmental disorders (DD), characterized by malformations/dysmorphism and/or intellectual disability, affecting around 3% of worldwide population, are mostly linked to genetic anomalies. Despite clinical exome sequencing (cES) centered on genes involved...
5.
Garret P, Bris C, Procaccio V, Amati-Bonneau P, Vabres P, Houcinat N, et al.
Hum Mutat
. 2019 Aug;
40(12):2430-2443.
PMID: 31379041
The expanding use of exome sequencing (ES) in diagnosis generates a huge amount of data, including untargeted mitochondrial DNA (mtDNA) sequences. We developed a strategy to deeply study ES data,...
6.
Lehalle D, Colombo R, OGrady M, Heron B, Houcinat N, Kuentz P, et al.
Am J Med Genet A
. 2019 Jun;
179(9):1756-1763.
PMID: 31241255
Alpha-mannosidosis (AM) is a very rare (prevalence: 1/500000 births) autosomal recessive lysosomal storage disorder. It is characterized by multi-systemic involvement associated with progressive intellectual disability, hearing loss, skeletal anomalies, and...
7.
Bruel A, Nambot S, Quere V, Vitobello A, Thevenon J, Assoum M, et al.
Eur J Hum Genet
. 2019 Jun;
27(10):1519-1531.
PMID: 31231135
In clinical exome sequencing (cES), the American College of Medical Genetics and Genomics recommends limiting variant interpretation to established human-disease genes. The diagnostic yield of cES in intellectual disability and/or...
8.
Villegas F, Lehalle D, Mayer D, Rittirsch M, Stadler M, Zinner M, et al.
Cell Stem Cell
. 2019 Jan;
24(2):257-270.e8.
PMID: 30595499
Self-renewal and differentiation of pluripotent murine embryonic stem cells (ESCs) is regulated by extrinsic signaling pathways. It is less clear whether cellular metabolism instructs developmental progression. In an unbiased genome-wide...
9.
Mulhern M, Stumpel C, Stong N, Brunner H, Bier L, Lippa N, et al.
Ann Neurol
. 2018 Oct;
84(5):788-795.
PMID: 30269351
NBEA is a candidate gene for autism, and de novo variants have been reported in neurodevelopmental disease (NDD) cohorts. However, NBEA has not been rigorously evaluated as a disease gene,...
10.
Trimouille A, Houcinat N, Vuillaume M, Fergelot P, Boucher C, Toutain J, et al.
Eur J Hum Genet
. 2017 Nov;
26(1):85-93.
PMID: 29184170
Syndromes caused by copy number variations are described as reciprocal when they result from deletions or duplications of the same chromosomal region. When comparing the phenotypes of these syndromes, various...