Idit Maya

35 Klatzkin St, Tel Aviv 6997801
Tel Aviv, TA 69978, Israel

Last Updated: 09/26/2026

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Found 69 publications

KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome.

KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome.

Journal: Human molecular genetics

Published: April 08, 2025

Genetics first approach: Expanding the utility of genetic testing by nongeneticist physicians.

Genetics first approach: Expanding the utility of genetic testing by nongeneticist physicians.

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

Published: March 02, 2025

The Value of ROH Metrics for Predicting Morbidity: Insights From a Large Cohort Analysis of Chromosomal Microarray.

The Value of ROH Metrics for Predicting Morbidity: Insights From a Large Cohort Analysis of Chromosomal Microarray.

Journal: Clinical genetics

Published: October 15, 2024

Is There an Alternative "Advanced Maternal Age" Threshold for Recommendation of Invasive Prenatal Testing?

Is There an Alternative "Advanced Maternal Age" Threshold for Recommendation of Invasive Prenatal Testing?

Journal: Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC

Published: July 22, 2024

2q13 Distal Microdeletion: Considering Evidence for an Emerging Syndrome Versus Susceptibility Locus: Twenty-Five New Cases and Review of the Literature.

2q13 Distal Microdeletion: Considering Evidence for an Emerging Syndrome Versus Susceptibility Locus: Twenty-Five New Cases and Review of the Literature.

Journal: American journal of medical genetics. Part A

Published: July 09, 2024

The Diagnostic Yield of Chromosomal Microarray Analysis in Third-Trimester Fetal Abnormalities.

The Diagnostic Yield of Chromosomal Microarray Analysis in Third-Trimester Fetal Abnormalities.

Journal: American journal of perinatology

Published: April 30, 2024

Regions of Homozygocity size patterns among diverse ethnic groups in Israel: Toward tailored diagnostic reporting thresholds.

Regions of Homozygocity size patterns among diverse ethnic groups in Israel: Toward tailored diagnostic reporting thresholds.

Journal: American journal of medical genetics. Part A

Published: April 24, 2024

Exploring the human genomic landscape: patterns of common homozygosity regions in a large middle eastern cohort.

Exploring the human genomic landscape: patterns of common homozygosity regions in a large middle eastern cohort.

Journal: Human molecular genetics

Published: April 18, 2024

Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses.

Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses.

Journal: Prenatal diagnosis

Published: January 14, 2024

Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases.

Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases.

Journal: Journal of human genetics

Published: November 26, 2023

Chromosomal microarray testing yield in 829 cases of microcephaly: a clinical characteristics-based analysis for prenatal and postnatal cases.

Chromosomal microarray testing yield in 829 cases of microcephaly: a clinical characteristics-based analysis for prenatal and postnatal cases.

Journal: Archives of gynecology and obstetrics

Published: November 17, 2023

Empowering informed choices: revisiting the discussion on prenatal genetic testing in all pregnancies.

Empowering informed choices: revisiting the discussion on prenatal genetic testing in all pregnancies.

Journal: American journal of obstetrics & gynecology MFM

Published: November 10, 2023

Showing 1-12 of 69

Last Updated: 09/26/2026