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Nathalie Fieremans · SciRah

Researcher profile · Semantic Scholar

Nathalie Fieremans

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Nathalie Fieremans — researcher profile on SciRah

h-index: 11
Works: 14
Citations: 489

Most-cited papers

Outcome of publicly funded nationwide first-tier noninvasive prenatal screening
K. Van Den Bogaert, L. Lannoo, N. Brison, V. Gatinois +28 more
2021Genetics in Medicine111 citations Open access
Semantic Scholar
Identification of intellectual disability genes in female patients with a skewed X inactivation pattern
Nathalie Fieremans, H. Van Esch, M. Holvoet, G. Van Goethem +11 more
2016Human Mutation83 citations Open access
Semantic Scholar
Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains
Lieselot Vanmarsenille, Maila Giannandrea, Nathalie Fieremans, Jelle Verbeeck +10 more
2014Human Mutation64 citations
Semantic Scholar
Early Frameshift Mutation in PIGA Identified in a Large XLID Family Without Neonatal Lethality
S. Belet, Nathalie Fieremans, Xuan Yuan, H. Van Esch +8 more
2014Human Mutation41 citations Open access
Semantic Scholar
Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features.
Nathalie Fieremans, H. Van Esch, T. de Ravel, J. Van Driessche +3 more
2015European Journal of Medical Genetics36 citations
Semantic Scholar
The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability
J. Vandewalle, Marijke Bauters, H. Van Esch, S. Belet +16 more
2013Human Genetics31 citations
Semantic Scholar
Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia
P. Brady, H. Van Esch, Nathalie Fieremans, G. Froyen +4 more
2014European Journal of Human Genetics28 citations Open access
Semantic Scholar
De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation
Nathalie Fieremans, Marijke Bauters, S. Belet, Jelle Verbeeck +6 more
2014Human Genetics28 citations
Semantic Scholar
HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability.
M. Isrie, V. Kalscheuer, M. Holvoet, Nathalie Fieremans +2 more
2013European Journal of Medical Genetics21 citations Open access
Semantic Scholar
Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations
M. van Riel, N. Brison, M. Baetens, B. Blaumeiser +31 more
2021Obstetrics and Gynecology19 citations Open access
Semantic Scholar
Deletion of the 5′exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome
M. J. N. Sá, Nathalie Fieremans, A. D. de Brouwer, Rita G Sousa +14 more
2013Journal of Medical Genetics19 citations
Semantic Scholar
Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles
I. Parijs, N. Brison, L. Vancoillie, M. Baetens +15 more
2023European Journal of Human Genetics8 citations Open access
Semantic Scholar
Identification of intellectual disability genes in female patients with skewed X-inactivation
Nathalie Fieremans, Stephanie Belet, H. Van Esch, K. Devriendt +3 more
20153 citations
Semantic Scholar
Identification of intellectual disability genes in female patients with skewed X-inactivation
Nathalie Fieremans, S. Belet, H. Van Esch, Koenraad Devriendt +7 more
20130 citations
Semantic Scholar

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