Mary A. Thomas

Calgary, AB, Canada

Last Updated: 09/26/2026

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Found 47 publications

51st annual meeting of ICBDSR: data that counts - transforming lives through birth defects surveillance.

51st annual meeting of ICBDSR: data that counts - transforming lives through birth defects surveillance.

Journal: Journal of community genetics
Published: March 17, 2026

Exploring RBFOX2 Haploinsufficiency: A New Genetic Link to Hypoplastic Left Heart Syndrome.

Exploring RBFOX2 Haploinsufficiency: A New Genetic Link to Hypoplastic Left Heart Syndrome.

Journal: Circulation. Genomic and precision medicine
Published: November 12, 2025

DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects.

DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects.

Journal: Genome medicine
Published: May 09, 2025

A Population-Based Study of Limb Body Wall Complex With Proposed Features for Prenatal Diagnosis.

A Population-Based Study of Limb Body Wall Complex With Proposed Features for Prenatal Diagnosis.

Journal: American journal of medical genetics. Part A
Published: May 05, 2025

A Prenatal Case of Focal Dermal Hypoplasia With Split Hand/Foot Malformation, Lack of Characteristic Skin Findings, Renal Agenesis, and Coloboma Due To a Novel PORCN Variant.

A Prenatal Case of Focal Dermal Hypoplasia With Split Hand/Foot Malformation, Lack of Characteristic Skin Findings, Renal Agenesis, and Coloboma Due To a Novel PORCN Variant.

Journal: Prenatal diagnosis
Published: April 11, 2025

Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders.

Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders.

Journal: American journal of human genetics
Published: April 07, 2025

Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy.

Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy.

Journal: American journal of human genetics
Published: March 05, 2025

Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy.

Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy.

Journal: medRxiv : the preprint server for health sciences
Published: January 27, 2025

Mainstreaming of clinical genetic testing: A conceptual framework.

Mainstreaming of clinical genetic testing: A conceptual framework.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 15, 2025

Overview of reproductive and pregnancy health principles and practice used by maternal-fetal medicine specialists for fetal-neonatal neurology consultants.

Overview of reproductive and pregnancy health principles and practice used by maternal-fetal medicine specialists for fetal-neonatal neurology consultants.

Journal: Seminars in fetal & neonatal medicine
Published: November 17, 2024

Maternal Cytomegalovirus (CMV) Serology: The Diagnostic Limitations of CMV IgM and IgG Avidity in Detecting Congenital CMV Infection.

Maternal Cytomegalovirus (CMV) Serology: The Diagnostic Limitations of CMV IgM and IgG Avidity in Detecting Congenital CMV Infection.

Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Published: September 13, 2024

Canadian College of Medical Geneticists: clinical practice advisory document - responsibility to recontact for reinterpretation of clinical genetic testing.

Canadian College of Medical Geneticists: clinical practice advisory document - responsibility to recontact for reinterpretation of clinical genetic testing.

Journal: Journal of medical genetics
Published: August 18, 2024
Showing 1-12 of 47

Last Updated: 09/26/2026