Author details

Full Name

Courtney Thaxton

Affiliation

University of North Carolina at Chapel Hill

ORCID

Career Start Year

1979

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36617168	Developing a disease-specific annotation protocol for VHL gene curation using Hypothes.is.	Database (Oxford)	2023
37872640	Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.	Genome Med	2023
37066275	Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.	medRxiv	2023
34694049	Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classification.	Hum Mutat	2022
35616647	Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.	Genet Med	2022
35754516	Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation.	Cell Genom	2022
33947203	Evidence-Based Assessment of Genes in Dilated Cardiomyopathy.	Circulation	2021
33831308	International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework.	Circ Genom Precis Med	2021
32755546	Interpretable Clinical Genomics with a Likelihood Ratio Paradigm.	Am J Hum Genet	2020
32015540	A myelin-related transcriptomic profile is shared by Pitt-Hopkins syndrome models and human autism spectrum disorder.	Nat Neurosci	2020
30681346	Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.	Circ Genom Precis Med	2019
29222403	Common Pathophysiology in Multiple Mouse Models of Pitt-Hopkins Syndrome.	J Neurosci	2018
30311377	The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria.	Hum Mutat	2018
30311372	The progression of the ClinGen gene clinical validity classification over time.	Hum Mutat	2018
28663201	Decreased Axon Caliber Underlies Loss of Fiber Tract Integrity, Disproportional Reductions in White Matter Volume, and Microcephaly in Angelman Syndrome Model Mice.	J Neurosci	2017
23404451	Organization and maintenance of molecular domains in myelinated axons.	J Neurosci Res	2013
21182951	Schwannomin/merlin promotes Schwann cell elongation and influences myelin segment length.	Mol Cell Neurosci	2011
21262464	Nodes of Ranvier act as barriers to restrict invasion of flanking paranodal domains in myelinated axons.	Neuron	2011
20371806	In vivo deletion of immunoglobulin domains 5 and 6 in neurofascin (Nfasc) reveals domain-specific requirements in myelinated axons.	J Neurosci	2010
19185024	Spatiotemporal ablation of myelinating glia-specific neurofascin (Nfasc NF155) in mice reveals gradual loss of paranodal axoglial junctions and concomitant disorganization of axonal domains.	J Neurosci Res	2009
19343313	Myelination and regional domain differentiation of the axon.	Results Probl Cell Differ	2009
17998937	Neuregulin and laminin stimulate phosphorylation of the NF2 tumor suppressor in Schwann cells by distinct protein kinase A and p21-activated kinase-dependent pathways.	Oncogene	2008
17175165	Phosphorylation of the NF2 tumor suppressor in Schwann cells is mediated by Cdc42-Pak and requires paxillin binding.	Mol Cell Neurosci	2007
479295	Structural states of myelin observed by x-ray diffraction and freeze-fracture electron microscopy.	J Cell Biol	1979

1 - 24 of 24

Zeynep Coban Akdemir

Baylor College of Medicine

Career Start Year 2012

Number of shared co-authors 3

Theodore G Drivas

Department of Genetics University of Pennsylvania Philadelphia PA.

Career Start Year 2008

Number of shared co-authors 0

Emma L Baple

University of Exeter Medical School, Royal Devon & Exeter Hospital

Career Start Year 2007

Number of shared co-authors 5

Irina R Tikhonova

School of Pharmacy, Queen's University Belfast

Career Start Year 2006

Number of shared co-authors 0

Katherine R Smith

Walter and Eliza Hall Institute of Medical Research

Career Start Year 2005

Number of shared co-authors 4

Kaya Bilguvar

Acibadem Mehmet Ali Aydinlar University

Career Start Year 2005

Number of shared co-authors 4

Christopher D Deppmann

University of Virginia

Career Start Year 2003

Number of shared co-authors 0

Giovanni Coppola

David Geffen School of Medicine, University of California los angeles

Career Start Year 1999

Number of shared co-authors 0

Stephan Z??chner

Hussman Institute for Human Genomics, University of Miami

Career Start Year 1998

Number of shared co-authors 8

Niraj S Trivedi

St. Jude Children's Research Hospital

Career Start Year 1998

Number of shared co-authors 0

Colin A Johnson

University of Leeds Leeds Institute of Medical Research at St James's

Career Start Year 1998

Number of shared co-authors 2

Andrew E Timms

Center for Integrative Brain Research, Seattle Children's Research Institute

Career Start Year 1998

Number of shared co-authors 2

Timothy W Yu

Harvard Medical School

Career Start Year 1997

Number of shared co-authors 6

Anat Stemmer-Rachamimov

Massachusetts General Hospital

Career Start Year 1997

Number of shared co-authors 0

Stephan Frank

Universitatsspital Basel

Career Start Year 1996

Number of shared co-authors 0

Nicholas Katsanis

Northwestern University

Career Start Year 1995

Number of shared co-authors 2

Jin-Wu Tsai

Brain Research Center, National Yang Ming Chiao Tung University

Career Start Year 1995

Number of shared co-authors 1

Tamilla Nechiporuk

Knight Cancer Institute, Oregon Health and Science University

Career Start Year 1994

Number of shared co-authors 0

Stanley F Nelson

university of california los angeles

Career Start Year 1993

Number of shared co-authors 3

Murat Gunel

Yale School of Medicine

Career Start Year 1993

Number of shared co-authors 5

Joseph G Gleeson

University of California

Career Start Year 1991

Number of shared co-authors 5

Eric J Huang

University of California san francisco

Career Start Year 1990

Number of shared co-authors 0

Shrikant Mane

Yale School of Medicine

Career Start Year 1989

Number of shared co-authors 4

Daniel H Geschwind

University of California los angeles

Career Start Year 1989

Number of shared co-authors 1

Christopher A Walsh

Broad Institute of MIT and Harvard

Career Start Year 1988

Number of shared co-authors 3

Cornelius F Boerkoel

University of British Columbia

Career Start Year 1987

Number of shared co-authors 12

Joseph D Buxbaum

Icahn School of Medicine at Mount Sinai

Career Start Year 1986

Number of shared co-authors 2

Kathryn N North

Murdoch Children's Research Institute

Career Start Year 1984

Number of shared co-authors 5

Jonathan Pevsner

Kennedy Krieger Institute, Johns Hopkins University School of Medicine

Career Start Year 1984

Number of shared co-authors 4

Greg Lemke

Salk Institute for Biological Studies

Career Start Year 1980

Number of shared co-authors 0

row(s) 1 - 30 of 30

Cynthia A James

Johns Hopkins University

Co-authored papers 4

Roddy Walsh

Co-authored papers 4

James S Ware

Co-authored papers 3

Jonathan S Berg

University of North Carolina

Co-authored papers 3

Erin Rooney Riggs

Geisinger Autism & Developmental Medicine Institute

Co-authored papers 3

Jennifer L Goldstein

University of North Carolina at Chapel Hill

Co-authored papers 3

Melissa A Haendel

American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison

Co-authored papers 2

Christa Lese Martin

Autism and Developmental Medicine Institute

Co-authored papers 2

Heidi L Rehm

The Broad Institute of MIT and Harvard

Co-authored papers 2

Amy C Sturm

Genomic Medicine Institute, USA Heart and Vascular Institute

Co-authored papers 2

Marina T DiStefano

Broad Institute of MIT and Harvard