Dalal K. Bubshait

Dammam, Saudi Arabia

Last Updated: 09/26/2026

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Found 29 publications

High Throughput Evidence Generation to Support Tentative Gene Disease Relationship from A Cohort Enriched for Autozygosity and Founder Effect.

High Throughput Evidence Generation to Support Tentative Gene Disease Relationship from A Cohort Enriched for Autozygosity and Founder Effect.

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

Published: November 24, 2025

Parental Beliefs and Attitudes Toward the Use of Baby Walkers in the Eastern Region of Saudi Arabia.

Parental Beliefs and Attitudes Toward the Use of Baby Walkers in the Eastern Region of Saudi Arabia.

Journal: Cureus

Published: November 17, 2023

Family-base rare variant association analysis in Saudi Arabian hydrocephalus subjects using whole exome sequencing.

Family-base rare variant association analysis in Saudi Arabian hydrocephalus subjects using whole exome sequencing.

Journal: Journal of neurosurgical sciences

Published: May 09, 2023

A review of polydactyly and its inheritance: Connecting the dots.

A review of polydactyly and its inheritance: Connecting the dots.

Journal: Medicine

Published: December 23, 2022

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.

Journal: European journal of human genetics : EJHG

Published: December 22, 2022

Novel PTRH2 gene variant causing IMNEPD (infantile-onset multisystem neurologic, endocrine, and pancreatic disease) in 2 Saudi siblings.

Novel PTRH2 gene variant causing IMNEPD (infantile-onset multisystem neurologic, endocrine, and pancreatic disease) in 2 Saudi siblings.

Journal: Clinical and experimental pediatrics

Published: August 26, 2022

The morbid genome of ciliopathies: an update.

The morbid genome of ciliopathies: an update.

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

Published: April 08, 2022

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.

Journal: American journal of human genetics

Published: April 01, 2022

Clinical profile, risk factors and outcomes of ric COVID-19: a retrospective cohort multicentre study in Saudi Arabia.

Clinical profile, risk factors and outcomes of ric COVID-19: a retrospective cohort multicentre study in Saudi Arabia.

Journal: BMJ open

Published: March 12, 2022

Blood utilization and quality indicators at a university hospital in the Eastern Province of Saudi Arabia.

Blood utilization and quality indicators at a university hospital in the Eastern Province of Saudi Arabia.

Journal: PloS one

Published: February 10, 2022

Novel Compound Heterozygous Variants of the ABCC8 Gene Warrant Identification of Pancreatic Histology in Infant with Diazoxide-unresponsive Congenital Hyperinsulinism.

Novel Compound Heterozygous Variants of the ABCC8 Gene Warrant Identification of Pancreatic Histology in Infant with Diazoxide-unresponsive Congenital Hyperinsulinism.

Journal: Children (Basel, Switzerland)

Published: July 09, 2021

Genetic Variants of RPL5 and RPL9 Genes among Saudi Patients Diagnosed with Thrombosis.

Genetic Variants of RPL5 and RPL9 Genes among Saudi Patients Diagnosed with Thrombosis.

Journal: Medical archives (Sarajevo, Bosnia and Herzegovina)

Published: May 13, 2021

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Last Updated: 09/26/2026