Publications by authors named "Elizabeth M Thompson"

Claim this Profile
F
FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination.
Brittany Croft, Anthony D Bird, Makoto Ono, Stefanie Eggers, Stefan Bagheri-Fam, Elizabeth M Thompson

Clin Genet· March 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis.
Carol Dobson-Stone, Marianne Hallupp, Hamideh Shahheydari, Audrey M G Ragagnin, Zac Chatterton, Elizabeth M Thompson

Brain· March 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Selective Osmotic Shock for Islet Isolation in the Cadaveric Canine Pancreas.
Elizabeth M Thompson, Jennifer L Sollinger, Emmanuel C Opara, Christopher A Adin

Cell Transplant· March 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development.
Gorjana Robevska, Jocelyn A van den Bergen, Thomas Ohnesorg, Stefanie Eggers, Chloe Hanna, Elizabeth M Thompson

Hum Mutat· January 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
Madeleine R Geisheker, Gabriel Heymann, Tianyun Wang, Bradley P Coe, Tychele N Turner, Elizabeth M Thompson

Nat Neurosci· August 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
Stefanie Eggers, Simon Sadedin, Jocelyn A van den Bergen, Gorjana Robevska, Thomas Ohnesorg, Elizabeth M Thompson

Genome Biol· November 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.
David A Koolen, Rolph Pfundt, Katrin Linda, Gea Beunders, Hermine E Veenstra-Knol, Elizabeth M Thompson

Eur J Hum Genet· May 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Pachyonychia Congenita: A Spectrum of KRT6a Mutations in Australian Patients.
Charlotte E Forrest, Genevieve Casey, Dylan A Mordaunt, Elizabeth M Thompson, Lynne Gordon

Pediatr Dermatol· May 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.
Raman Kumar, Mark A Corbett, Bregje W M Van Bon, Alison Gardner, Joshua A Woenig, Elizabeth M Thompson

Hum Mol Genet· December 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.
Paulien A Terhal, Rutger Jan A J Nievelstein, Eva J J Verver, Vedat Topsakal, Paula van Dommelen, Elizabeth M Thompson

Am J Med Genet A· March 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Modulating DNA methylation in activated CD8+ T cells inhibits regulatory T cell-induced binding of Foxp3 to the CD8+ T Cell IL-2 promoter.
Michelle M Miller, Nnenna Akaronu, Elizabeth M Thompson, Sylvia F Hood, Jonathan E Fogle

J Immunol· February 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
Morad Ansari, Gemma Poke, Quentin Ferry, Kathleen Williamson, Roland Aldridge, Elizabeth M Thompson

J Med Genet· October 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
In vitro effect of multiple hydrogen peroxide gas plasma sterilizations on the rate of closure of ameroid constrictors.
Elizabeth M Thompson, Heather A Towle Millard, George E Moore, Lynn Guptill

Am J Vet Res· October 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly.
Kelly A Bear, Benjamin D Solomon, Sonir Antonini, Ivo J P Arnhold, Marcela M França, Elizabeth M Thompson

J Med Genet· June 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.
Jillian Nicholl, Wendy Waters, John C Mulley, Shanna Suwalski, Sue Brown, Elizabeth M Thompson

Pathology· January 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.
Vandana A Gupta, Gianina Ravenscroft, Ranad Shaheen, Emily J Todd, Lindsay C Swanson, Elizabeth M Thompson

Am J Hum Genet· December 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients.
Carol Dobson-Stone, Marianne Hallupp, Clement T Loy, Elizabeth M Thompson, Eric Haan

PLoS One· August 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
V
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.
Eyal Reinstein, Sophia Frentz, Tim Morgan, Sixto García-Miñaúr, Richard J Leventer, Elizabeth M Thompson

Eur J Hum Genet· May 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
CD8+ clonality is associated with prolonged acute plasma viremia and altered mRNA cytokine profiles during the course of feline immunodeficiency virus infection.
Michelle M Miller, Elizabeth M Thompson, Steven E Suter, Jonathan E Fogle

Vet Immunol Immunopathol· April 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Frontotemporal dementia-amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1-q12.2: genetic, clinical and neuropathological analysis.
Carol Dobson-Stone, Agnes A Luty, Elizabeth M Thompson, Peter Blumbergs, William S Brooks

Acta Neuropathol· April 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
W
Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations.
Gianina Ravenscroft, Elizabeth M Thompson, Emily J Todd, Kyle S Yau, Nina Kresoje

Neuromuscul Disord· February 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.
Jillian Nicholl, Wendy Waters, Shanna Suwalski, Sue Brown, Yvonne Hull, Suzanna Thompson, Elizabeth M Thompson

Am J Med Genet B Neuropsychiatr Genet· January 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.
Benjamin D Solomon, Kelly A Bear, Adrian Wyllie, Amelia A Keaton, Christele Dubourg, Elizabeth M Thompson

J Med Genet· July 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Functional performance in young Australian children with achondroplasia.
Penelope Jane Ireland, James McGill, Andreas Zankl, Robert S Ware, Verity Pacey, Elizabeth M Thompson

Dev Med Child Neurol· October 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Lung disease associated with periventricular nodular heterotopia and an FLNA mutation.
Alice Masurel-Paulet, Eric Haan, Elizabeth M Thompson, Cyril Goizet, Christel Thauvin-Robinet

Eur J Med Genet· June 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis