Nathalie Fieremans

Brussels, BRU, Belgium

Last Updated: 09/26/2026

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Found 11 publications

Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles.

Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles.

Journal: European journal of human genetics : EJHG

Published: December 21, 2022

Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations.

Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations.

Journal: Obstetrics and gynecology

Published: November 10, 2020

Outcome of publicly funded nationwide first-tier noninvasive prenatal screening.

Outcome of publicly funded nationwide first-tier noninvasive prenatal screening.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 15, 2020

Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.

Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.

Journal: Human mutation

Published: November 05, 2015

Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features.

Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features.

Journal: European journal of medical genetics

Published: November 28, 2014

De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation.

De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation.

Journal: Human genetics

Published: April 21, 2014

Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia.

Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia.

Journal: European journal of human genetics : EJHG

Published: February 26, 2014

Increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients with distal Xq28 copy number gains.

Increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients with distal Xq28 copy number gains.

Journal: Human mutation

Published: September 20, 2013

Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality.

Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality.

Journal: Human mutation

Published: September 12, 2013

The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability.

The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability.

Journal: Human genetics

Published: May 07, 2013

HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability.

HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability.

Journal: European journal of medical genetics

Published: March 02, 2013

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Last Updated: 09/26/2026