Kate Richardson

8PUBLICATIONS
10CO-AUTHORS
Major global burdens of diseaseNeurology and neuromuscular diseasesVision scienceMedical infection agents (incl. prions)Developmental genetics (incl. sex determination)
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Publications (8)

|Jun 12, 2026
Refining Domain-Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant.

|Jun 01, 2026
Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features.

|Feb 21, 2026
Severe Renal Phenotype Across A Multigenerational Tuberous Sclerosis Complex (TSC) Family.

Elena Tuller, Joshua A Samuels, Hope Northrup

|Feb 11, 2022
NEXMIF pathogenic variants in individuals of Korean, Vietnamese, and Mexican descent.

Elizabeth Langley, Laura S Farach, Mary K Koenig

|Feb 05, 2022
Identification of a novel microdeletion causative of Nance-Horan syndrome.

Mariana Lopez Martinolich, Hope Northrup, Pedro Mancias

|May 27, 2021
A De Novo case of autosomal dominant mitochondrial membrane protein-associated neurodegeneration.

Stuart Fraser, Mary Koenig, Laura Farach

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Frequent Collaborators

2 joint publications

Joshua Samuels

1 joint publications

Charles A Szabo

1 joint publications

Kathryn Gunther

1 joint publications

Laura Schoch Farach