Maha Saleh

London, ON, Canada

Last Updated: 09/26/2026

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Found 27 publications

Diagnostic Utility of Exome Data Reanalysis After In Silico Multi-Gene Panels or Clinical Exome Testing for Patients With Epilepsy and Developmental Delay/Intellectual Disability: A Retrospective Cohort Study.

Diagnostic Utility of Exome Data Reanalysis After In Silico Multi-Gene Panels or Clinical Exome Testing for Patients With Epilepsy and Developmental Delay/Intellectual Disability: A Retrospective Cohort Study.

Journal: Clinical genetics

Published: March 12, 2025

Unilateral Adrenalectomy for Pediatric Cyclical Cushing Syndrome with Novel PRKAR1A Variant Associated Carney Complex.

Unilateral Adrenalectomy for Pediatric Cyclical Cushing Syndrome with Novel PRKAR1A Variant Associated Carney Complex.

Journal: JCEM case reports

Published: February 28, 2025

Describing the First Canadian Cohort of Oculogastrointestinal Neurodevelopmental Syndrome Caused by CAPN15 Pathogenic Variants.

Describing the First Canadian Cohort of Oculogastrointestinal Neurodevelopmental Syndrome Caused by CAPN15 Pathogenic Variants.

Journal: American journal of medical genetics. Part A

Published: February 28, 2025

Successful Use of TPO-Receptor Agonist Eltrombopag to Correct Thrombocytopenia for Unrelated-Donor Renal Transplant in an Adolescent with MYH-9-Related Disease.

Successful Use of TPO-Receptor Agonist Eltrombopag to Correct Thrombocytopenia for Unrelated-Donor Renal Transplant in an Adolescent with MYH-9-Related Disease.

Journal: Pediatric blood & cancer

Published: November 02, 2024

De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegaly.

De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegaly.

Journal: Brain : a journal of neurology

Published: June 24, 2024

An uninformative NIPT as an early indicator of cri-du-chat due to a chromosomal 5;18 translocation-An atypical presentation of a rare cytogenetic phenomenon.

An uninformative NIPT as an early indicator of cri-du-chat due to a chromosomal 5;18 translocation-An atypical presentation of a rare cytogenetic phenomenon.

Journal: Clinical case reports

Published: May 07, 2023

Dual diagnosis of trisomy 21 and lethal perinatal Gaucher disease as a cause of non-immune hydrops fetalis in a twin pregnancy for a consanguineous couple.

Dual diagnosis of trisomy 21 and lethal perinatal Gaucher disease as a cause of non-immune hydrops fetalis in a twin pregnancy for a consanguineous couple.

Journal: Clinical case reports

Published: March 22, 2023

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.

Journal: Clinical genetics

Published: September 25, 2022

Pancytopenia, splenomegaly, and mild bony abnormalities secondary to novel variants in thromboxane synthetase: An unusual cause of bone marrow failure.

Pancytopenia, splenomegaly, and mild bony abnormalities secondary to novel variants in thromboxane synthetase: An unusual cause of bone marrow failure.

Journal: Pediatric blood & cancer

Published: September 23, 2022

A novel MAP3K7 mutation in a child with cardiospondylocarpofacial syndrome and orofacial clefting.

A novel MAP3K7 mutation in a child with cardiospondylocarpofacial syndrome and orofacial clefting.

Journal: Clinical genetics

Published: July 30, 2022

Dual BRCA1 and BRCA2 pathogenic variants in an adolescent with syndromic intellectual disability.

Dual BRCA1 and BRCA2 pathogenic variants in an adolescent with syndromic intellectual disability.

Journal: Clinical case reports

Published: June 13, 2022

Pitfalls in Genetic Testing for Consanguineous Pediatric Populations.

Pitfalls in Genetic Testing for Consanguineous Pediatric Populations.

Journal: Case reports in genetics

Published: February 01, 2022

Showing 1-12 of 27

Last Updated: 09/26/2026