Samantha K. Rojas

Ottawa, ON, Canada

Last Updated: 09/26/2026

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Found 11 publications

Genetic counselors outside of the genetics clinic: Roles, practices, and ethico-legal implications in light of lagging legal recognition across Canada.

Genetic counselors outside of the genetics clinic: Roles, practices, and ethico-legal implications in light of lagging legal recognition across Canada.

Journal: Journal of genetic counseling

Published: February 16, 2024

Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.

Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.

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

Published: April 21, 2023

Persistent chylothorax associated with lymphatic malformation type 6 due to biallelic pathogenic variants in PIEZO1.

Persistent chylothorax associated with lymphatic malformation type 6 due to biallelic pathogenic variants in PIEZO1.

Journal: American journal of medical genetics. Part A

Published: October 21, 2022

The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experience.

The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experience.

Journal: American journal of medical genetics. Part A

Published: September 08, 2022

Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus.

Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus.

Journal: Human mutation

Published: May 16, 2022

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.

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

Published: January 25, 2021

Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.

Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.

Journal: Movement disorders clinical practice

Published: April 17, 2020

p21 protein-activated kinase 1 is associated with severe regressive autism, and epilepsy.

p21 protein-activated kinase 1 is associated with severe regressive autism, and epilepsy.

Journal: Clinical genetics

Published: April 08, 2019

Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities.

Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities.

Journal: European journal of human genetics : EJHG

Published: November 29, 2018

The unsolved rare genetic disease atlas? An analysis of the unexplained phenotypic descriptions in OMIM®.

The unsolved rare genetic disease atlas? An analysis of the unexplained phenotypic descriptions in OMIM®.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: September 10, 2018

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Journal: American journal of human genetics

Published: November 13, 2017

Showing 1-11 of 11

Last Updated: 09/26/2026