Melissa T. Carter

Ottawa, ON, Canada

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 79 publications

Adult-Onset CTC1-Related Disorder With Kidney Disease, Subcutaneous Dystrophic Calcifications and Telomere Length Conservation.

Adult-Onset CTC1-Related Disorder With Kidney Disease, Subcutaneous Dystrophic Calcifications and Telomere Length Conservation.

Journal: American journal of medical genetics. Part A

Published: May 04, 2026

Congenital-onset MLASA2 from a novel YARS2 variant: A literature review.

Congenital-onset MLASA2 from a novel YARS2 variant: A literature review.

Journal: Journal of neuromuscular diseases

Published: August 14, 2025

Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder.

Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder.

Journal: European journal of human genetics : EJHG

Published: August 04, 2025

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

Exploring the Relationship Between Family Experiences and Behavioral Inflexibility in Young Autistic Children.

Exploring the Relationship Between Family Experiences and Behavioral Inflexibility in Young Autistic Children.

Journal: Journal of autism and developmental disorders

Published: March 09, 2025

De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder.

De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder.

Journal: American journal of medical genetics. Part A

Published: January 14, 2025

Corticosteroid-binding Globulin Dysfunction Due to Homozygous SERPINA6 Lyon Variant in a Pediatric Patient.

Corticosteroid-binding Globulin Dysfunction Due to Homozygous SERPINA6 Lyon Variant in a Pediatric Patient.

Journal: JCEM case reports

Published: November 14, 2024

The Pediatric Autism Research Cohort (PARC) Study: protocol for a patient-oriented prospective study examining trajectories of functioning in children with autism.

The Pediatric Autism Research Cohort (PARC) Study: protocol for a patient-oriented prospective study examining trajectories of functioning in children with autism.

Journal: BMJ open

Published: April 29, 2024

The diagnostic yield of genetic and metabolic investigations in syndromic and nonsyndromic patients with autism spectrum disorder, global developmental delay, or intellectual disability from a dedicated neurodevelopmental disorders genetics clinic.

The diagnostic yield of genetic and metabolic investigations in syndromic and nonsyndromic patients with autism spectrum disorder, global developmental delay, or intellectual disability from a dedicated neurodevelopmental disorders genetics clinic.

Journal: American journal of medical genetics. Part A

Published: March 06, 2024

Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations.

Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations.

Journal: American journal of human genetics

Published: February 27, 2024

De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.

De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.

Journal: American journal of human genetics

Published: August 23, 2023

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.

Journal: Science translational medicine

Published: May 31, 2023

Showing 1-12 of 79

Last Updated: 09/26/2026