Nada Houcinat

Dijon, 21000, France

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 21 publications

The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.

The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.

Journal: The Journal of clinical endocrinology and metabolism

Published: April 12, 2022

The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.

The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.

Journal: Molecular genetics and metabolism reports

Published: July 29, 2021

Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders.

Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders.

Journal: Human genetics

Published: March 10, 2020

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.

Journal: Journal of medical genetics

Published: February 24, 2020

Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases.

Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases.

Journal: American journal of medical genetics. Part A

Published: January 15, 2019

Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light.

Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light.

Journal: Human mutation

Published: January 05, 2019

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing.

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing.

Journal: European journal of human genetics : EJHG

Published: December 13, 2018

NBEA: Developmental disease gene with early generalized epilepsy phenotypes.

NBEA: Developmental disease gene with early generalized epilepsy phenotypes.

Journal: Annals of neurology

Published: April 26, 2018

Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features.

Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features.

Journal: Clinical genetics

Published: December 11, 2017

Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3.

Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3.

Journal: Cell stem cell

Published: November 29, 2017

Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly.

Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly.

Journal: Clinical genetics

Published: November 03, 2017

First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9 Mbp interstitial deletion at Xq11.1q11.2.

First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9 Mbp interstitial deletion at Xq11.1q11.2.

Journal: Clinical dysmorphology

Published: August 12, 2017

Showing 1-12 of 21

Last Updated: 09/26/2026