Efrat Drucker-Sofrin

Tel Aviv, TA, Israel

Last Updated: 09/26/2026

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Found 9 publications

Impaired Wnt/Planar Cell Polarity Signaling in Yellow Nail Syndrome.

Impaired Wnt/Planar Cell Polarity Signaling in Yellow Nail Syndrome.

Journal: Annals of internal medicine

Published: December 23, 2024

High frequency of MEFV disease-causing variants in children with very-early-onset inflammatory bowel disease.

High frequency of MEFV disease-causing variants in children with very-early-onset inflammatory bowel disease.

Journal: Pediatric research

Published: October 03, 2023

Discovery of a Novel Missense Variant in NLRP3 Causing Atypical Cryopyrin-Associated Periodic Syndromes With Hearing Loss as the Primary Presentation, Responsive to Anti-Interleukin-1 Therapy.

Discovery of a Novel Missense Variant in NLRP3 Causing Atypical Cryopyrin-Associated Periodic Syndromes With Hearing Loss as the Primary Presentation, Responsive to Anti-Interleukin-1 Therapy.

Journal: Arthritis & rheumatology (Hoboken, N.J.)

Published: May 11, 2023

Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).

Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).

Journal: Kidney international

Published: March 16, 2023

Biallelic loss of EMC10 leads to mild to severe intellectual disability.

Biallelic loss of EMC10 leads to mild to severe intellectual disability.

Journal: Annals of clinical and translational neurology

Published: March 14, 2022

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.

Journal: Clinical genetics

Published: May 04, 2020

Teaching clinicians practical genomic medicine: 7 years' experience in a tertiary care center.

Teaching clinicians practical genomic medicine: 7 years' experience in a tertiary care center.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: March 01, 2020

The rare 13q33-q34 microdeletions: eight new patients and review of the literature.

The rare 13q33-q34 microdeletions: eight new patients and review of the literature.

Journal: Human genetics

Published: April 16, 2019

The Natural History of Metabolic Comorbidities in Turner Syndrome from Childhood to Early Adulthood: Comparison between 45,X Monosomy and Other Karyotypes.

The Natural History of Metabolic Comorbidities in Turner Syndrome from Childhood to Early Adulthood: Comparison between 45,X Monosomy and Other Karyotypes.

Journal: Frontiers in endocrinology

Published: December 13, 2017

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Last Updated: 09/26/2026