Moira C. Blyth

Chapeltown Road
Leeds, ENG, United Kingdom

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 36 publications

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Journal: The Journal of clinical investigation

Published: November 03, 2025

Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis.

Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis.

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

Published: September 16, 2025

Validity of wearable sensors for total knee arthroplasty (TKA) rehabilitation: A study in younger and older healthy participants.

Validity of wearable sensors for total knee arthroplasty (TKA) rehabilitation: A study in younger and older healthy participants.

Journal: The Knee

Published: May 07, 2024

Advancing state estimation for lithium-ion batteries with hysteresis through systematic extended Kalman filter tuning.

Advancing state estimation for lithium-ion batteries with hysteresis through systematic extended Kalman filter tuning.

Journal: Scientific reports

Published: February 08, 2024

Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.

Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.

Journal: American journal of human genetics

Published: May 25, 2023

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Journal: The Journal of clinical investigation

Published: August 31, 2022

Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia.

Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia.

Journal: PloS one

Published: April 21, 2022

Enhancing inclusion of diverse populations in genomics: A competence framework.

Enhancing inclusion of diverse populations in genomics: A competence framework.

Journal: Journal of genetic counseling

Published: November 26, 2019

Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications.

Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications.

Journal: Molecular genetics & genomic medicine

Published: June 27, 2019

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.

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

Published: April 03, 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Journal: American journal of human genetics

Published: March 09, 2019

Tranexamic acid toxicity in human periarticular tissues.

Tranexamic acid toxicity in human periarticular tissues.

Journal: Bone & joint research

Published: February 26, 2019

Showing 1-12 of 36

Last Updated: 09/26/2026