Thomas C. Markello - Publications

Neurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease Program.

Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Published: March 27, 2025

Variants in WASHC3, a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphism.

Journal: Genetics in medicine open

Published: May 22, 2024

Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features.

Journal: Human genetics

Published: January 29, 2024

Novel CUL3 Variant Causing Familial Hyperkalemic Hypertension Impairs Regulation and Function of Ubiquitin Ligase Activity.

Journal: Hypertension (Dallas, Tex. : 1979)

Published: December 08, 2021

A complete pedigree-based graph workflow for rare candidate variant analysis.

Journal: Genome research

Published: November 24, 2021

FOXR1 regulates stress response pathways and is necessary for proper brain development.

Journal: PLoS genetics

Published: July 02, 2021

Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy.

Journal: Journal of neurogenetics

Published: May 10, 2021

PARK7-Related Early Onset Parkinson Disease in the Setting of Complete Uniparental Isodisomy of Chromosome 1.

Journal: Neurology. Genetics

Published: February 12, 2021

GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.

Journal: Annals of neurology

Published: February 05, 2020

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Journal: American journal of human genetics

Published: September 07, 2019

Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development.

Journal: Disease models & mechanisms

Published: August 08, 2019

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.

Journal: American journal of human genetics

Published: January 09, 2019