Nathalie Fieremans

发表

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

T. de Ravel, H. Van Esch, G. Froyen, 2015, European journal of medical genetics.

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

K. Devriendt, J. Vermeesch, J. Deprest, 2014, European Journal of Human Genetics.

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

J. Rosenfeld, P. Marynen, K. Devriendt, 2013, Human Genetics.

Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

K. Devriendt, B. Menten, J. Vermeesch, 2021, Genetics in Medicine.

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

J. Lupski, R. Gibbs, D. Muzny, 2016, Human mutation.

Deletion of the 5′exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome

J. Oliveira, A. D. de Brouwer, M. Brito, 2013, Journal of Medical Genetics.

Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains

K. Õunap, H. Esch, M. Raynaud, 2014, Human mutation.

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

S. Seneca, P. Marynen, E. Baere, 2014, Human Genetics.

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

J. Rosenfeld, P. Marynen, K. Devriendt, 2013, Human Genetics.

Identification of intellectual disability genes in female patients with skewed X-inactivation

S. Seneca, P. Marynen, K. Devriendt, 2015 .

Early Frameshift Mutation in PIGA Identified in a Large XLID Family Without Neonatal Lethality

V. Kalscheuer, H. Esch, Linzhao Cheng, 2014, Human mutation.

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

K. Devriendt, H. Van Esch, V. Kalscheuer, 2013, European journal of medical genetics.

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

K. Devriendt, J. Vermeesch, K. Janssens, 2023, European journal of human genetics : EJHG.

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

K. Devriendt, J. Vermeesch, J. Gatot, 2021, Obstetrics and gynecology.