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Amanda Lindy · SciRah

Researcher profile · Semantic Scholar

Amanda Lindy

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Amanda Lindy — researcher profile on SciRah

h-index: 12
Works: 29
Citations: 1,178

Most-cited papers

Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.
L. Walker, M. de la Hoya, G. Wiggins, Amanda Lindy +12 more
2023American Journal of Human Genetics324 citations Open access
Semantic Scholar
Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders
Amanda Lindy, M. Stosser, Elizabeth Butler, Courtney Downtain‐Pickersgill +5 more
2018Epilepsia276 citations Open access
Semantic Scholar
High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders
M. Stosser, Amanda Lindy, Elizabeth Butler, K. Retterer +3 more
2017Genetics in Medicine149 citations Open access
Semantic Scholar
A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants
J. A. López-Rivera, E. Pérez-Palma, J. Symonds, Amanda Lindy +6 more
2020Brain : a journal of neurology132 citations Open access
Semantic Scholar
High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity
Carlos G. Vanoye, R. Desai, Zhigang Ji, Sneha Adusumilli +11 more
2021bioRxiv58 citations Open access
Semantic Scholar
An antagonistic role for the C. elegans Schnurri homolog SMA-9 in modulating TGFβ signaling during mesodermal patterning
M. Foehr, Amanda Lindy, Rachel C Fairbank, Nirav M. Amin +4 more
2006Development53 citations Open access
Semantic Scholar
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8
A. Dingemans, Kim M. G. Truijen, Sam van de Ven, R. Bernier +31 more
2022Translational Psychiatry37 citations Open access
Semantic Scholar
Promotion of Bone Morphogenetic Protein Signaling by Tetraspanins and Glycosphingolipids
Zhiyu Liu, Herong Shi, Lindsey C. Szymczak, Taner Aydin +21 more
2015PLoS Genetics31 citations Open access
Semantic Scholar
TRPV channel-mediated calcium transients in nociceptor neurons are dispensable for avoidance behaviour
Amanda Lindy, P. Parekh, Richard Zhu, Patrick M. Kanju +6 more
2014Nature Communications28 citations Open access
Semantic Scholar
Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani–Lenz syndrome
Amanda Lindy, Caleb Bupp, S. McGee, Erin H. Steed +3 more
2014American Journal of Medical Genetics. Part A28 citations
Semantic Scholar
Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing data sets
Perry Evans, Chao Wu, Amanda Lindy, D. McKnight +3 more
2019Genome Research25 citations Open access
Semantic Scholar
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP
L. Walker, M. de la Hoya, G. Wiggins, Amanda Lindy +12 more
2023medRxiv14 citations Open access
Semantic Scholar
Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1
Amanda Lindy, Monica J. Basehore, Mumingjiang Munisha, Aimee Williams +4 more
2016American Journal of Medical Genetics. Part A9 citations
Semantic Scholar
Phenotypic continuum of NFU1 ‐related disorders
R. Kaiyrzhanov, M. Zaki, Tracy Lau, Sambuddha Sen +42 more
2022Annals of Clinical and Translational Neurology8 citations Open access
Semantic Scholar
Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders
Erkin Kurganov, Lei Cui, N. Budnik, Si-Wei Chen +15 more
2025bioRxiv4 citations Open access
Semantic Scholar
Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel
Justyne E. Ross, May Flowers, Shannon McNulty, M. Patel +27 more
2025Journal of Neuromuscular Diseases3 citations Open access
Semantic Scholar
EXOME SEQUENCING OFFERS A COMPREHENSIVE GENETIC EVALUATION AND HIGH DIAGNOSTIC RATE FOR ATAXIA-RELATED DISORDERS (S17.004)
F. Millán, D. McKnight, Julie Scuffins, Jane Juusola +2 more
2017Neurology1 citations
Semantic Scholar
Comparison of the Diagnostic Yield of Comprehensive and Phenotypically Driven Multi-Gene Panels for Neuromuscular Disorders (P5.055)
Amanda Lindy, M. Bradbury, S. Suchy, D. McKnight
2016Neurology1 citations
Semantic Scholar
Resolution of the D4Z4 repeat responsible for facioscapulohumeral muscular dystrophy with HiFi sequencing
Xiao Chen, Richard J. L. F. Lemmers, Z. Kronenberg, J. Devaney +9 more
2026bioRxiv0 citations Open access
Semantic Scholar
Copy Number Variant Detection by Exome/Genome Sequencing Versus Chromosomal Microarray: A Comparative Study of Over 9,000 Clinical Cases.
Sarah R. Poll, F. Facio, K. McWalter, Patricia C. Lopes +11 more
2026Genetics in Medicine0 citations Open access
Semantic Scholar
O26: Resolution of large complex VNTRs with HiFi sequencing: Applications in LPA Kringle IV-type 2 repeat and D4Z4 repeat
Xiao Chen, Z. Kronenberg, Daniel Baker, J. Devaney +10 more
2025Genetics in Medicine Open0 citations Open access
Semantic Scholar
P452: Specifying the ACMG/AMP variant sequence interpretation guidelines for congenital myopathies*
Marina T. DiStefano, Ryan Webb, Hannah R. McCurry, Shannon McNulty Gray +25 more
2023Genetics in Medicine Open0 citations Open access
Semantic Scholar
Evaluation of 18,911 Individuals with Autism Reveals that Exome Analysis Provides Higher Diagnostic Rates and Reduced Time to Diagnosis than Traditional Testing Strategies (P1-1.Virtual)
Amanda Lindy, R. Torene, Kyle Retterer, P. Kruszka
2022Neurology0 citations
Semantic Scholar
Lack of Genotype-Phenotype Correlation in Individuals with DMPK Expansions (P5.4-014)
Amanda Lindy, Katelyn Beattie, Rhonda Brandon, Hui Yang +1 more
2019Neurology0 citations
Semantic Scholar
Genetic Testing Has a High Diagnostic Yield for Individuals with ALS regardless of Family History (P1.4-009)
Hui Yang, Amy Decker, Julie Scuffins, Rhonda Brandon +1 more
2019Neurology0 citations
Semantic Scholar
Genetic variant pathogenicity prediction trained using large-scale disease specific clinical sequencing datasets
Perry Evans, Chao Wu, Amanda Lindy, D. McKnight +3 more
2018bioRxiv0 citations Open access
Semantic Scholar
Compound heterozygosity of two MECP2 deletions with paternal inheritance of a late-truncating mutation in a female with atypical Rett syndrome (P4.253)
Amanda Lindy, Melissa J Rumple, Melanie Morrow, Anita Shanmugham +2 more
2015Neurology0 citations
Semantic Scholar
Functional Analysis of Ion Selectivity and Permeation Mechanisms of the C. elegans TRPV Channel OSM-9
Amanda Lindy
20110 citations
Semantic Scholar
TGF-beta and LIN-12/Notch signaling pathways regulate dorsal–ventral patterning of the C. elegans post-embryonic mesoderm
M. Foehr, Amanda Lindy, Rachel C Fairbank, Nirav M. Amin +1 more
20060 citations Open access
Semantic Scholar

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