Houda Zghal Elloumi

GenVec — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

17h-index3.5kcitations59works2.12yr avg
OpenAlex↗Google Scholar↗Lab page↗

Accepting Students?

No reports yet. Know if this professor is taking students?

Research Topics

Genetics and Neurodevelopmental Disorders(19), Genomics and Rare Diseases(16), Epigenetics and DNA Methylation(6), Immunodeficiency and Autoimmune Disorders(6), Genomic variations and chromosomal abnormalities(5)

Publications59 total

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive
Journal of Clinical Investigation·2025· 1 citedOpen Access
Further delineation of the SCAF4-associated neurodevelopmental disorder
European Journal of Human Genetics·2024· 4 citedOpen Access
Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum
European Journal of Human Genetics·2024· 3 citedOpen Access
Novel variants in the SOX11 gene: clinical description of seven new patients
European Journal of Human Genetics·2024· 2 citedOpen Access
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum
Genetics in Medicine·2024· 8 citedOpen Access
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles
Genome Medicine·2024· 4 citedOpen Access
Rare predicted deleterious <scp><i>FEZF2</i></scp> variants are associated with a neurodevelopmental phenotype
American Journal of Medical Genetics Part A·2024· 2 citedOpen Access
Table of Contents, Volume 194A, Number 3, March 2024
American Journal of Medical Genetics Part A·2024Open Access
Novel variants in the SOX11 gene: additional evidence for the involvement of SOX11 in hypogonadotropic hypogonadism
2024Open Access
Variant-specific pathophysiological mechanisms of <i>AFF3</i> differently influence transcriptome profiles
2024· 1 citedOpen Access
P180: Expanding the phenotype spectrum of Mendelian diseases with a genotype-first approach
Genetics in Medicine Open·2024Open Access
P130: Phenotypic spectrum of individuals with SLC16A2 variants: Allan-Herndon-Dudley syndrome*
Genetics in Medicine Open·2024Open Access
Neurodevelopmental and other phenotypes recurrently associated with heterozygous <scp><i>BAZ2B</i></scp> loss‐of‐function variants
American Journal of Medical Genetics Part A·2023· 8 citedOpen Access
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein
Genetics in Medicine·2023· 2 citedOpen Access
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
Nature Communications·2023· 21 citedOpen Access
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
The American Journal of Human Genetics·2022· 15 citedOpen Access
Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities
Genetics in Medicine·2022· 27 citedOpen Access
Phenotypic continuum of <scp><i>NFU1</i></scp>‐related disorders
Annals of Clinical and Translational Neurology·2022· 5 citedOpen Access
Deleterious, protein-altering variants in the X-linked transcriptional coregulator <i>ZMYM3</i> in 22 individuals with a neurodevelopmental delay phenotype
2022Open Access
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein
Genetics in Medicine·2022· 28 citedOpen Access
page 1 of 3Next →

Frequent Co-authors

Steven M. Holland(12), Henry Houlden(8), Rolph Pfundt(8), Scott E. Plevy(7), Reza Maroofian(7), Stéphanie Efthymiou(6), Christian Gilissen(6), Kristin G. Monaghan(6), Michelle L. Paulson(5), Elizabeth P. Sampaio(5), James R. Lupski(5), Sally Ann Lynch(5), Lisenka E.L.M. Vissers(5), Amy P. Hsu(4), Alexandra F. Freeman(4), Li Ding(4), Francisca Millan(4), Claire Teigen(4), Julie Scuffins(4), Rebecca I. Torene(4)