Asaf Shma-Ta

Jerusalem, JM, Israel

Last Updated: 09/26/2026

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Found 23 publications

Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects.

Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects.

Journal: Clinical genetics

Published: August 18, 2021

Pregnancy with newer generation aortic On-X mechanical valve.

Pregnancy with newer generation aortic On-X mechanical valve.

Journal: Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology

Published: January 12, 2021

Immune-Mediated Fetal Complete Atrioventricular Block: Can Dexamethasone Therapy Revert the Process?

Immune-Mediated Fetal Complete Atrioventricular Block: Can Dexamethasone Therapy Revert the Process?

Journal: The Israel Medical Association journal : IMAJ

Published: November 29, 2020

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.

Journal: The Journal of clinical investigation

Published: July 09, 2020

CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.

CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.

Journal: Nature communications

Published: November 03, 2019

Grandparental genotyping enhances exome variant interpretation.

Grandparental genotyping enhances exome variant interpretation.

Journal: American journal of medical genetics. Part A

Published: October 16, 2019

Loss of ADAMTS19 causes progressive non-syndromic heart valve disease.

Loss of ADAMTS19 causes progressive non-syndromic heart valve disease.

Journal: Nature genetics

Published: April 20, 2018

EXOME ANALYSIS - A GAME CHANGER IN PEDIATRICS

EXOME ANALYSIS - A GAME CHANGER IN PEDIATRICS

Journal: Harefuah

Published: March 28, 2018

Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.

Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.

Journal: PLoS genetics

Published: March 23, 2018

Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia.

Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia.

Journal: European journal of human genetics : EJHG

Published: February 02, 2017

Congenital valvular defects associated with deleterious mutations in the PLD1 gene.

Congenital valvular defects associated with deleterious mutations in the PLD1 gene.

Journal: Journal of medical genetics

Published: August 20, 2016

Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome.

Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome.

Journal: American journal of human genetics

Published: August 12, 2016

Showing 1-12 of 23

Last Updated: 09/26/2026