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List of works by Idit Maya

A de-novo interstitial microduplication involving 2p16.1-p15 and mirroring 2p16.1-p15 microdeletion syndrome: Clinical and molecular analysis

scientific article published on 4 August 2015

Abnormal brain magnetic resonance imaging in two patients with Smith-Magenis syndrome

scientific article published on 30 April 2014

Based on a cohort of 52,879 microarrays, recurrent intragenic FBN2 deletion encompassing exons 1-8 does not cause Beals syndrome

scientific article published on 20 July 2020

Chromosomal Microarray Analysis (CMA) a Clinical Diagnostic Tool in the Prenatal and Postnatal Settings

scientific article published on September 2015

Chromosomal Microarray Analysis Results From Pregnancies With Various Ultrasonographic Anomalies

scientific article published on 01 December 2018

Chromosomal microarray findings in pregnancies with an isolated pelvic kidney

scientific article published on 01 December 2018

Chromosomal microarray should be performed for cases of fetal short long bones detected prenatally

scientific article published on 06 August 2020

Chromosomal microarray vs. NIPS: analysis of 5541 low-risk pregnancies

scientific article published on 24 May 2019

Cytogenetic analysis in fetuses with late onset abnormal sonographic findings

scientific article published on 15 September 2017

Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting

scientific article published in December 2010

High-frequency low-penetrance copy-number variant classification: should we revise the existing guidelines?

scientific article published on 28 April 2020

Homozygous MED25 mutation implicated in eye-intellectual disability syndrome

scientific article

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Is fetal isolated double renal collecting system an indication for chromosomal microarray?

scientific article published on 15 May 2019

Isolated fetal horseshoe kidney does not seem to increase the risk for abnormal chromosomal microarray results

scientific article published on 20 January 2018

Microarray analysis in pregnancies with isolated echogenic bowel

scientific article published on 6 March 2018

Microarray analysis in pregnancies with isolated unilateral kidney agenesis

scientific article published on 10 January 2018

Microarray findings in pregnancies with oligohydramnios - a retrospective cohort study and literature review

scientific article published on 07 December 2019

Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2.

scientific article published on 29 September 2013

Microcephaly-thin corpus callosum syndrome maps to 8q23.2-q24.12.

scientific article published on June 2012

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.

scientific article

Noncoding copy-number variations are associated with congenital limb malformation.

scientific article published on 12 October 2017

Prenatal clubfoot increases the risk for clinically significant chromosomal microarray results - Analysis of 269 singleton pregnancies

scientific article published on 20 April 2020

Prenatal microarray analysis in right aortic arch-a retrospective cohort study and review of the literature

scientific article

Prenatal screening: current practice, new developments, ethical challenges

scientific article published on January 2015

RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome

scientific article published on 23 July 2009

Risk of Clinically Significant Chromosomal Microarray Analysis Findings in Fetuses With Nuchal Translucency From 3.0 mm Through 3.4 mm

scientific article published on 03 December 2020

SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system

scientific article

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

scientific article published on 03 July 2020

The Yield of Chromosomal Microarray in Pregnancies Complicated with Fetal Growth Restriction Can Be Predicted According to Clinical Parameters

scientific article published on 22 December 2020

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

scientific article published on 18 July 2019

The yield of chromosomal microarray analysis among pregnancies terminated due to fetal malformations

scientific article published on 23 January 2020

What have we learned from 691 prenatal chromosomal microarrays for ventricular septal defects?

scientific article published on 19 August 2019

When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations

scientific article published on 20 July 2017

When phenotype does not match genotype: importance of "real-time" refining of phenotypic information for exome data interpretation

scientific article published on 17 August 2020

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