Publications by authors named "Amanda Lindy"

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Characterization of the functional and clinical impacts of missense variants found in neurodevelopmental disorders.
Erkin Kurganov, Lei Cui, Nikita Budnik, Siwei Chen, Erick Olivares, Amanda Lindy

Sci Transl Med· December 2025

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Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel.
Justyne E Ross, May Flowers, Shannon McNulty, Mayher Patel, Hui Yang, Amanda Lindy

J Neuromuscul Dis· November 2025

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Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.
Logan C Walker, Miguel de la Hoya, George A R Wiggins, Amanda Lindy, Lisa M Vincent

Am J Hum Genet· July 2023

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APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Logan C Walker, Miguel de la Hoya, George A R Wiggins, Amanda Lindy, Lisa M Vincent

medRxiv· February 2023

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Phenotypic continuum of NFU1-related disorders.
Rauan Kaiyrzhanov, Maha S Zaki, Tracy Lau, Sambuddha Sen, Reza Azizimalamiri, Amanda Lindy

Ann Clin Transl Neurol· December 2022

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The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.
Alexander J M Dingemans, Kim M G Truijen, Sam van de Ven, Raphael Bernier, Ernie M H F Bongers, Amanda Lindy

Transl Psychiatry· October 2022

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High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity.
Carlos G Vanoye, Reshma R Desai, Zhigang Ji, Sneha Adusumilli, Nirvani Jairam, Amanda S Lindy

JCI Insight· March 2022

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A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants.
Javier A López-Rivera, Eduardo Pérez-Palma, Joseph Symonds, Amanda S Lindy, Dianalee A McKnight

Brain· April 2020

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Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing data sets.
Perry Evans, Chao Wu, Amanda Lindy, Dianalee A McKnight, Matthew Lebo

Genome Res· July 2019

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Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders.
Amanda S Lindy, Mary Beth Stosser, Elizabeth Butler, Courtney Downtain-Pickersgill, Anita Shanmugham

Epilepsia· May 2018

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High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.
Mary Beth Stosser, Amanda S Lindy, Elizabeth Butler, Kyle Retterer, Caitlin M Piccirillo-Stosser

Genet Med· April 2018

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Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1.
Amanda S Lindy, Monica J Basehore, Mumingjiang Munisha, Aimee Leanne Williams, Michael J Friez

Am J Med Genet A· June 2016

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Promotion of bone morphogenetic protein signaling by tetraspanins and glycosphingolipids.
Zhiyu Liu, Herong Shi, Lindsey C Szymczak, Taner Aydin, Sijung Yun, Amanda Lindy

PLoS Genet· May 2015

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Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani-Lenz syndrome.
Amanda S Lindy, Caleb P Bupp, Stephen J McGee, Erin Steed, Roger E Stevenson

Am J Med Genet A· September 2014

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TRPV channel-mediated calcium transients in nociceptor neurons are dispensable for avoidance behaviour.
Amanda S Lindy, Puja K Parekh, Richard Zhu, Patrick Kanju, Sree V Chintapalli

Nat Commun· September 2014

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A case of progressive quadriceps weakness and elevated creatine kinase level mimicking inclusion body myositis.
Doris G Leung, Harold A Taylor, Amanda S Lindy, Monica J Basehore, Andrew L Mammen

Arthritis Care Res (Hoboken)· February 2014

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An antagonistic role for the C. elegans Schnurri homolog SMA-9 in modulating TGFbeta signaling during mesodermal patterning.
Marisa L Foehr, Amanda S Lindy, Rachel C Fairbank, Nirav M Amin, Ming Xu

Development· August 2006

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