Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

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.

Publish with JoVE

Featured researcher

Get your video featured.

Publish with JoVE

Publications (6)

Sort by Publication Date:

|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

1 joint publications

Stephanie M Baskin

1 joint publications

Shaine A Morris

1 joint publications

Melissa A Richard

1 joint publications

Kit Sing Au

1 joint publications

Kate Mowrey

Frequent Collaborators

2 joint publications

Kathryn Gunther

1 joint publications

Abigail Kacpura

1 joint publications

Marta Frigeni

1 joint publications

Victoria F Wagner

Top Related Videos

A Multimodal Imaging- and Stimulation-based Method of Evaluating Connectivity-related Brain Excitability in Patients with Epilepsy

A Multimodal Imaging- and Stimulation-based Method of Evaluating Connectivity-related Brain Excitability in Patients with Epilepsy

Published on : Nov 13, 2016

Modifying Levels of Maternal Dietary Folic Acid or Choline to Study the Impact of Deficiencies on Offspring Health Outcomes

Modifying Levels of Maternal Dietary Folic Acid or Choline to Study the Impact of Deficiencies on Offspring Health Outcomes

Published on : Jun 28, 2024

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Published on : Feb 21, 2015

See more related videos

Top Related Videos

A Multimodal Imaging- and Stimulation-based Method of Evaluating Connectivity-related Brain Excitability in Patients with Epilepsy

A Multimodal Imaging- and Stimulation-based Method of Evaluating Connectivity-related Brain Excitability in Patients with Epilepsy

Published on : Nov 13, 2016

Modifying Levels of Maternal Dietary Folic Acid or Choline to Study the Impact of Deficiencies on Offspring Health Outcomes

Modifying Levels of Maternal Dietary Folic Acid or Choline to Study the Impact of Deficiencies on Offspring Health Outcomes

Published on : Jun 28, 2024

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Published on : Feb 21, 2015

See more related videos