31 Mar 2026Open access
Assessing the clinical significance of a novel rare variant in Loeys-Dietz Syndrome by combining AI-driven modelling and cell biologyPublisher sitemedRxiv, Connective tissue disorders research
Active, last published 2026
In genetic and kidney cyst diseases
Houweyda
Jilani
Scholar“Research focused on Genetic and Kidney Cyst Diseases and adjacent fields.”
University of Tunis El Manar
Tunisia
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01 · About the work
What I study
ouweyda Jilani is a researcher working on Genetic and Kidney Cyst Diseases. A fuller summary will appear once they update their profile.
02 · Reach
Publication output and reach
Houweyda's work has been cited 299 times across 4 active years. Bars show publications per year; the line shows cumulative citation totals across publications first appearing in each year.
03 · Research focus
Topics
Genetic and Kidney Cyst Diseases×4RNA Research and Splicing×2Cell Adhesion Molecules Research×2Pediatric Urology and Nephrology Studies×2Connective tissue disorders research×2
04 · Where I am
Affiliations
Affiliation on published researchTunis University, TunisiaDrawn from the institution listed on this researcher’s published work.
Research themes (UN SDGs)
05 · Selected work
Recent publications
8 works14 Oct 2025Open access
RNA-seq Splicing Profile of the CDH1 Gene and Its Impact on the Clinical Pathogenicity Classification of CDH1 Variants: A Description of Alternative and Pathogenic Splicing PatternsPublisher siteCancers, RNA modifications and cancer
1 May 2025Open access
Directed Teaching of Clinical Reasoning in the Fourth Year of Medical School: A Structured Summary of Genetic ObservationsPublisher siteLa Tunisie Médicale, Innovations in Medical Education
24 Feb 2025Open access2cites
Transcript Long‐Read Sequencing Unveils the Molecular Complexity of a Novel <i>ROGDI</i> Splicing Variant in a Tunisian Family With Kohlschütter‐Tönz SyndromePublisher siteClinical Genetics, RNA Research and Splicing
26 Aug 2024Open access10cites
Genome Tunisia Project: paving the way for precision medicine in North AfricaPublisher siteGenome Medicine, Genomics and Rare Diseases
1 Dec 2023Open access
Corrigendum: A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1Publisher siteJournal of Pediatric Genetics, Bone health and treatments
9 May 20231cites
Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes <i>TP63</i> and <i>CNGB3</i>Publisher siteOphthalmic Genetics, Cancer-related Molecular Pathways
1 Mar 20231cites
Next generation sequencing panel target genes: possible diagnostic tool for ectodermal dysplasia related diseasesPublisher siteItalian Journal of Dermatology and Venereology, dental development and anomalies
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