Publications by authors named "Amanda Clause"

Claim this Profile
E
Expert Consensus on Genetic Diagnostic Approaches for Patients With Limb-Girdle Muscular Dystrophy.
Volker Straub, Amanda R Clause, Sandra Donkervoort, Peter B Kang, Chamindra G Laverty

Neurology· November 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype.
Ilaria Parenti, Alina Hesters, Marta Gil-Salvador, Laura Duffy, Deniz Kanber, Amanda R Clause

medRxiv· November 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mondo: Integrating Disease Terminology Across Communities.
Nicole A Vasilevsky, Sabrina Toro, Nicolas Matentzoglu, Joseph E Flack, Kathleen R Mullen, Amanda R Clause

Genetics· October 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study.
Stephanie M Hunn, Lindsay N Alfano, Aileen Jones, Amanda Butler, Linda P Lowes, Amanda Clause

Ann Clin Transl Neurol· June 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships.
Eleanor C Broeren, Vanessa N Gitau, Alicia B Byrne, Pamela Ajuyah, Marie B Balzotti, Amanda R Clause

Genet Med Open· April 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.
Eleanor Broeren, Vanessa Gitau, Alicia Byrne, Pamela Ajuyah, Marie Balzotti, Amanda Clause

medRxiv· November 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.
Shruthi Mohan, Shannon McNulty, Courtney Thaxton, Marwa Elnagheeb, Emma Owens, Amanda R Clause

Ann Clin Transl Neurol· September 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A Novel Variant in SQSTM1 Gene Causing Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy in a Peruvian Family.
Cesar Chacaltana-Vinas, Patricia Ramirez-Pajares, Alid Manrique-Palomino, Amanda R Clause, Aditi Chawla

Mov Disord Clin Pract· June 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy.
Shruthi Mohan, Shannon McNulty, Courtney Thaxton, Marwa Elnagheeb, Emma Owens, Amanda R Clause

bioRxiv· May 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Structural and Functional Development of Inhibitory Connections from the Medial Nucleus of the Trapezoid Body to the Superior Paraolivary Nucleus.
Jongwon Lee, Amanda Clause, Karl Kandler

J Neurosci· November 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases.
Amanda R Clause, Julie P Taylor, Revathi Rajkumar, Krista Bluske, Maren Bennett

Cell Genom· February 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Autosomal Recessive ACTG2-Related Visceral Myopathy in Brothers.
Mari Mori, Amanda R Clause, Kristen Truxal, R Tanner Hagelstrom, Kandamurugu Manickam

JPGN Rep· November 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.
Erin Rooney Riggs, Taylor I Bingaman, Carrie-Ann Barry, Andrea Behlmann, Krista Bluske, Amanda R Clause

Genet Med· September 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A clinical laboratory's experience using GeneMatcher-Building stronger gene-disease relationships.
Julie P Taylor, Alka Malhotra, Nicole J Burns, Amanda R Clause, Carolyn M Brown

Hum Mutat· June 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genome sequencing identifies three molecular diagnoses including a mosaic variant in the gene in an individual with Pol III-related leukodystrophy and Feingold syndrome.
Kayla J Muirhead, Amanda R Clause, Zinayida Schlachetzki, Holly Dubbs, Denise L Perry

Cold Spring Harb Mol Case Stud· December 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Expanding the Phenotype of -Related Tubulinopathy: Three Cases of a Novel, Heterozygous Pathogenic Variant p.Gly98Arg.
Lindsey Schmidt, Karen E Wain, Catherine Hajek, Juvianee I Estrada-Veras, Maria J Guillen Sacoto, Amanda Clause

Mol Syndromol· March 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A Corticothalamic Circuit for Dynamic Switching between Feature Detection and Discrimination.
Wei Guo, Amanda R Clause, Asa Barth-Maron, Daniel B Polley

Neuron· July 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mice Lacking the Alpha9 Subunit of the Nicotinic Acetylcholine Receptor Exhibit Deficits in Frequency Difference Limens and Sound Localization.
Amanda Clause, Amanda M Lauer, Karl Kandler

Front Cell Neurosci· June 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Differential maturation of vesicular glutamate and GABA transporter expression in the mouse auditory forebrain during the first weeks of hearing.
Troy A Hackett, Amanda R Clause, Toru Takahata, Nicholas J Hackett, Daniel B Polley

Brain Struct Funct· June 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
Transcriptional maturation of the mouse auditory forebrain.
Troy A Hackett, Yan Guo, Amanda Clause, Nicholas J Hackett, Krassimira Garbett

BMC Genomics· August 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The precise temporal pattern of prehearing spontaneous activity is necessary for tonotopic map refinement.
Amanda Clause, Gunsoo Kim, Mandy Sonntag, Catherine J C Weisz, Douglas E Vetter

Neuron· May 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
An acoustic startle-based method of assessing frequency discrimination in mice.
Amanda Clause, Tuan Nguyen, Karl Kandler

J Neurosci Methods· August 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
Tonotopic reorganization of developing auditory brainstem circuits.
Karl Kandler, Amanda Clause, Jihyun Noh

Nat Neurosci· June 2009

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Sensorineural deafness and seizures in mice lacking vesicular glutamate transporter 3.
Rebecca P Seal, Omar Akil, Eunyoung Yi, Christopher M Weber, Lisa Grant, Amanda Clause

Neuron· January 2008

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Caudal autotomy and regeneration in lizards.
Amanda R Clause, Elizabeth A Capaldi

J Exp Zool A Comp Exp Biol· December 2006

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis