Yuval Yogev
Beersheba, D, Israel
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 30 publications
Developmental dysplasia of the hip caused by homozygous TRIM33 pathogenic variant affecting downstream BMP pathway.
Journal: Journal of medical genetics
Published: February 10, 2024
Novel phenotype associated with homozygous likely pathogenic variant in the POP1 gene.
Journal: Clinical genetics
Published: October 25, 2023
Heterozygous THBS2 pathogenic variant causes Ehlers-Danlos syndrome with prominent vascular features in humans and mice.
Journal: European journal of human genetics : EJHG
Published: September 27, 2023
ZNF142 mutation causes sex-dependent neurologic disorder.
Journal: Journal of medical genetics
Published: June 22, 2023
Tissue-aware interpretation of genetic variants advances the etiology of rare diseases.
Journal: Molecular systems biology
Published: June 08, 2023
A role of BPTF in viral oncogenicity delineated through studies of heritable Kaposi sarcoma.
Journal: Journal of medical virology
Published: May 24, 2023
SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice.
Journal: Journal of medical genetics
Published: March 08, 2023
Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: February 06, 2023
De-novo "germline second hit" loss-of-heterozygosity RBP3 deletion mutation causing recessive high myopia.
Journal: Clinical genetics
Published: January 11, 2023
Predicting molecular mechanisms of hereditary diseases by using their tissue-selective manifestation.
Journal: Molecular systems biology
Published: October 20, 2022
IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma.
Journal: NPJ genomic medicine
Published: October 13, 2022
Last Updated: 09/26/2026