Publications by authors named "Houda Elloumi"

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Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive.
Katrine M Johannesen, Khaing Phyu Aung, Vivian Wy Liao, Nathan L Absalom, Han C Chua, Houda Elloumi

J Clin Invest· November 2025

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The phenotypic spectrum of individuals with SLC16A2 variants in MCT8 deficiency.
Kirsty McWalter, Houda Zghal Elloumi, Richard Sidlow, Ben Willis, Andrew J Bauer

HGG Adv· July 2025

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Further delineation of the SCAF4-associated neurodevelopmental disorder.
Cosima M Schmid, Anne Gregor, Anna Ruiz, Carmen Manso Bazús, Isabella Herman, Houda Z Elloumi

Eur J Hum Genet· May 2025

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Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum.
Daniel G Calame, Jovi Huixin Wong, Puravi Panda, Dat Tuan Nguyen, Nancy C P Leong, Houda Elloumi

Genet Med· January 2025

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Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum.
Véronique Pingault, Cécilia Neiva-Vaz, Judite de Oliveira, Núria Martínez-Gil, Amaia Lasa-Aranzasti, Houda Zghal Elloumi

Eur J Hum Genet· January 2025

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Novel variants in the SOX11 gene: clinical description of seven new patients.
Beatriz Schincariol-Manhe, Érica Campagnolo, Samira Spineli-Silva, Nicole de Leeuw, Gabriela Roldão Correia-Costa, Houda Zghal Elloumi

Eur J Hum Genet· December 2024

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Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype.
Alison Garber, Lisa S Weingarten, Nicolas J Abreu, Houda Zghal Elloumi, Tobias Haack

Am J Med Genet A· July 2024

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Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Houda Zghal Elloumi

Genome Med· May 2024

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Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.
Soha Sewani, Mahshid S Azamian, Bryce A Mendelsohn, Frederic Tran Mau-Them, Manon Réda, Houda Zghal Elloumi

Am J Med Genet A· March 2024

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Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Houda Zghal Elloumi

medRxiv· January 2024

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Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Elke de Boer, Charlotte W Ockeloen, Rosalie A Kampen, Juliet E Hampstead, Alexander J M Dingemans, Houda Zghal Elloumi

Genet Med· November 2023

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Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.
Carolina Gracia-Diaz, Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Houda Zghal Elloumi

Nat Commun· July 2023

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Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities.
Ella F Whittle, Madison Chilian, Ehsan Ghayoor Karimiani, Helga Progri, Daniela Buhas, Houda Zghal Elloumi

Genet Med· February 2023

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Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Susan M Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, E Christopher Partridge, Fatima E Abidi, Houda Zghal Elloumi

Am J Hum Genet· February 2023

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Phenotypic continuum of NFU1-related disorders.
Rauan Kaiyrzhanov, Maha S Zaki, Tracy Lau, Sambuddha Sen, Reza Azizimalamiri, Houda Zghal Elloumi

Ann Clin Transl Neurol· December 2022

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Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Elke de Boer, Charlotte W Ockeloen, Rosalie A Kampen, Juliet E Hampstead, Alexander J M Dingemans, Houda Zghal Elloumi

Genet Med· October 2022

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Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome.
Jacqueline L Steele, Michelle M Morrow, Harvey B Sarnat, Ebba Alkhunaizi, Tracy Brandt, Houda Zghal Elloumi

Pediatr Neurol· January 2022

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Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Marjolein J A Weerts, Kristina Lanko, Francisco J Guzmán-Vega, Adam Jackson, Reshmi Ramakrishnan, Houda Zghal Elloumi

Genet Med· November 2021

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Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish.
Sheng-Jia Lin, Barbara Vona, Patricia G Barbalho, Rauan Kaiyrzhanov, Reza Maroofian, Houda Z Elloumi

Genet Med· October 2021

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Early-onset phenotype of bi-allelic GRN mutations.
Caroline Neuray, Tipu Sultan, Javeira Raza Alvi, Marcondes C Franca, Birgit Assmann, Houda Zghal Elloumi

Brain· March 2021

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Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy.
Andrés Moreno-De-Luca, Francisca Millan, Denis R Pesacreta, Houda Z Elloumi, Matthew T Oetjens

JAMA· February 2021

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Diagnostic assays for chronic granulomatous disease and other neutrophil disorders.
Houda Zghal Elloumi, Steven M Holland

Methods Mol Biol· October 2014

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A cell permeable peptide inhibitor of NFAT inhibits macrophage cytokine expression and ameliorates experimental colitis.
Houda Z Elloumi, Nitsan Maharshak, Kavitha N Rao, Taku Kobayashi, Hyungjin S Ryu

PLoS One· November 2012

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NFIL3 is a regulator of IL-12 p40 in macrophages and mucosal immunity.
Taku Kobayashi, Katsuyoshi Matsuoka, Shehzad Z Sheikh, Houda Z Elloumi, Nobuhiko Kamada

J Immunol· April 2011

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Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia.
Donald C Vinh, Smita Y Patel, Gulbu Uzel, Victoria L Anderson, Alexandra F Freeman, Houda Z Elloumi

Blood· February 2010

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