Laura Schoch Farach

6PUBLICATIONS
9CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Infant and child healthDevelopmental genetics (incl. sex determination)Gene mappingTribology
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (6)

|Feb 17, 2024
Common epilepsy variants from the general population are not associated with epilepsy among individuals with tuberous sclerosis complex.

Melissa A Richard, Philip J Lupo, Erik A Ehli

|Feb 14, 2022
Clinical and biochemical outcomes in cobalamin C deficiency with use of high-dose hydroxocobalamin in the early neonatal period.

Abigail Kacpura, Marta Frigeni, Kathryn Gunther

|Mar 26, 2021
Two new reported cases of 16q22.3q23.3 duplication syndrome highlight intrafamilial variability and potential sex expression differences within a rare duplication syndrome.

Kathryn Gunther, Kate Mowrey, Laura Schoch Farach

|Sep 16, 2020
The first reported case of Loeys-Dietz syndrome in a patient with biallelic SMAD3 variants.

Stephanie M Baskin, Shaine A Morris, Autumn Vara

|Feb 27, 2019
A De novo HDAC2 variant in a patient with features consistent with Cornelia de Lange syndrome phenotype.

Victoria F Wagner, Paul R Hillman, Allison D Britt

|Dec 22, 2017
The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.

Laura S Farach, Mary E Little, Angela L Duker

Pageof 1

Frequent Collaborators

2 joint publications

Kathryn Gunther

1 joint publications

Abigail Kacpura

1 joint publications

Marta Frigeni

1 joint publications

Victoria F Wagner