Jorge L Granadillo

8PUBLICATIONS
65CO-AUTHORS
Gene mappingNeurogeneticsMedical biochemistry - lipidsMicroelectromechanical systems (MEMS)Epigenetics (incl. genome methylation and epigenomics)
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Publications (8)

|Aug 26, 2026
Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects.

|Dec 18, 2025
Neurobehavioral Profiles and Clinical Consequences of MYT1L-Related Neurodevelopmental Disorder: Insights from the Brain Gene Registry.

Jorge L Granadillo, Levi Kaster, Daleep Grewal

|Nov 07, 2025
Severe Neurological Presentation in Siblings With COQ5-Related Primary Coenzyme Q10 Deficiency: Expanding Clinical and Molecular Spectrum.

Parith Wongkittichote, Rachel M Guerra, Daniel J Wegner

|May 27, 2025
MCT8 Deficiency in Females.

Stefan Groeneweg, Ferdy S van Geest, Floor van der Most

|Dec 09, 2024
A survey of hypothalamic phenotypes identifies molecular and behavioral consequences of MYT1L haploinsufficiency in male and female mice.

Susan E Maloney, Katherine B McCullough, Sneha M Chaturvedi

|Dec 04, 2024
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study.

Queenie K-G Tan, Allyn McConkie-Rosell, Rachel M Brown

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Frequent Collaborators

2 joint publications

Joseph D Dougherty

2 joint publications

Kristen L Kroll

1 joint publications

Alyssa L Rippert

1 joint publications

Gudny Anna Arnadottir