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K. Nykamp · SciRah

Researcher profile · Semantic Scholar

K. Nykamp

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K. Nykamp — researcher profile on SciRah

h-index: 13
Works: 53
Citations: 1,546

Most-cited papers

Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria
K. Nykamp, Michael J. Anderson, M. Powers, John Garcia +7 more
2017Genetics in Medicine700 citations Open access
Semantic Scholar
Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation
Yuya Kobayashi, Shan Yang, K. Nykamp, John Garcia +2 more
2017Genome Medicine185 citations Open access
Semantic Scholar
The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis
William B. Hannah, Bryce A. Seifert, R. Truty, M. Zariwala +4 more
2022The Lancet Respiratory Medicine171 citations Open access
Semantic Scholar
Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy
R. Truty, N. Patil, R. Sankar, J. Sullivan +16 more
2019Epilepsia Open103 citations Open access
Semantic Scholar
Sources of discordance among germ-line variant classifications in ClinVar
Shan Yang, S. Lincoln, Yuya Kobayashi, K. Nykamp +2 more
2017Genetics in Medicine103 citations Open access
Semantic Scholar
Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation
R. Truty, Karen Ouyang, S. Rojahn, Sarah Garcia +6 more
2021American Journal of Human Genetics75 citations Open access
Semantic Scholar
Applications of artificial intelligence in clinical laboratory genomics.
S. Aradhya, F. Facio, H. Metz, T. Manders +5 more
2023American Journal of Medical Genetics. Part C, Seminars in Medical Genetics47 citations Open access
Semantic Scholar
Characterization of the chicken GCAP gene array and analyses of GCAP1, GCAP2, and GC1 gene expression in normal and rd chicken pineal.
S. L. Semple-Rowland, P. Larkin, J. Bronson, K. Nykamp +2 more
1999Molecular Vision27 citations
Semantic Scholar
Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR
K. Nykamp, R. Truty, D. Riethmaier, J. Wilkinson +5 more
2021Human Mutation22 citations Open access
Semantic Scholar
Clinical Genetic Testing for the Cardiomyopathies and Arrhythmias: A Systematic Framework for Establishing Clinical Validity and Addressing Genotypic and Phenotypic Heterogeneity
John Garcia, Jackie Tahiliani, Nicole M. Johnson, Sienna J. Aguilar +8 more
2016Frontiers in Cardiovascular Medicine22 citations Open access
Semantic Scholar
Systematic use of phenotype evidence in clinical genetic testing reduces the frequency of variants of uncertain significance
Britt A. Johnson, Karen Ouyang, L. Frank, R. Truty +4 more
2022American Journal of Medical Genetics. Part A20 citations Open access
Semantic Scholar
Correction: Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria
K. Nykamp, Michael J. Anderson, M. Powers, John Garcia +7 more
2019Genetics in Medicine17 citations Open access
Semantic Scholar
A Systematic Method for Detecting Abnormal mRNA Splicing and Assessing Its Clinical Impact in Individuals Undergoing Genetic Testing for Hereditary Cancer Syndromes.
Nick Kamps-Hughes, Victoria Carlton, L. Frésard, Steve Osazuwa +5 more
2022Journal of Molecular Diagnostics14 citations Open access
Semantic Scholar
Differences in the clinical spectrum of two adolescent male patients with Alström syndrome
Vladimir Kuburović, J. Marshall, G. B. Collin, K. Nykamp +7 more
2013Clinical Dysmorphology11 citations Open access
Semantic Scholar
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification
S. Padigepati, David A. Stafford, Christopher A. Tan, M. Silvis +12 more
2024Human Genetics10 citations Open access
Semantic Scholar
Utility of RNA Sequencing Analysis in the Context of Genetic Testing
Jackie Tahiliani, Jeanne Leisk, K. Aradhya, Karen Ouyang +2 more
2020Current Genetic Medicine Reports8 citations Open access
Semantic Scholar
Prioritizing genes for systematic variant effect mapping
Da Kuang, R. Truty, Jochen Weile, Britt A. Johnson +4 more
2020Bioinform.8 citations Open access
Semantic Scholar
Frequency of Cystic Fibrosis Transmembrane Conductance Regulator Variants in Individuals Evaluated for Primary Ciliary Dyskinesia.
William B. Hannah, R. Truty, Virginia Gonzales, Gregory P Kithcart +6 more
2019Jornal de Pediatria5 citations
Semantic Scholar
Harnessing genotype and phenotype data for population-scale variant classification using large language models and bayesian inference
T. Manders, Christopher A. Tan, Y. Kobayashi, A. Wahl +10 more
2025Human Genetics3 citations Open access
Semantic Scholar
Correction: Corrigendum: Sources of discordance among germ-line variant classifications in ClinVar
Shan Yang, S. Lincoln, Yuya Kobayashi, K. Nykamp +2 more
2017Genetics in Medicine3 citations Open access
Semantic Scholar
Sensitivity of HiFi long-read genome sequencing for difficult-to-detect pathogenic variants when applied to real-world clinical laboratory samples
J. Devaney, J. Chong, Patricia C. Lopes, Jessica Noya +24 more
2026American Journal of Human Genetics2 citations Open access
Semantic Scholar
An algorithm to detect abnormal mRNA splicing and assess its clinical impact in individuals undergoing genetic testing for hereditary cancer syndromes
Nick Kamps-Hughes, V. Carlton, L. Frésard, Steve Osazuwa +5 more
2022bioRxiv2 citations Open access
Semantic Scholar
The impact of machine learning models in reducing variants of uncertain significance for individuals from underrepresented populations who are undergoing testing for inborn errors of immunity
B. Johnson, A. Morales, F. Facio, L. Frésard +6 more
2023Clinical Immunology1 citations
Semantic Scholar
P633: Benchmarking variant classification quality: Concordance of an ACMG-based framework with >400,000 ClinVar submissions from over a decade of clinical testing
F. Facio, Sarah R. Poll, D. Mitchell, K. Kelly +4 more
2026Genetics in Medicine Open0 citations Open access
Semantic Scholar
O20: Benchmarking comprehensive variant detection in challenging genomic regions using Constellation mapped read technology
F. Facio, B. Johnson, Kathleen S. Hruska, D. Ellershaw +9 more
2026Genetics in Medicine Open0 citations Open access
Semantic Scholar
P125: Solving the unsolved: Epigenomic insights from long-read sequencing improves diagnosis of Mendelian disorders*
Eunjee Lee, J. Devaney, Jessime M. Kirk, D. Kilburn +11 more
2026Genetics in Medicine Open0 citations Open access
Semantic Scholar
O21: A rapid, novel approach to rare disease and clinical genetic variant discovery using on-flowcell proximity sequencing and haplotype-resolved variant calling
Shunhua Han, Vitor Onuchic, V. Jain, A. Subramaniyan +35 more
2026Genetics in Medicine Open0 citations Open access
Semantic Scholar
P265: High-throughput detection of pathogenic repeat expansions using PureTarget: Concordance with clinical assays and mosaic insights
John I. Kilburn, S. Yusuff, Aaron Johnson, Julianna Spangler +11 more
2026Genetics in Medicine Open0 citations Open access
Semantic Scholar
P632: Learning phenotypes from 4M+ patients with paired genotypes and phenotypes*
T. Manders, Y. Kobayashi, K. Nykamp
2025Genetics in Medicine Open0 citations Open access
Semantic Scholar
O51: VUS subcategorization in a points-based variant classification system and improvements to cascade testing recommendations using evidence-codes
Y. Kobayashi, Sarah R. Poll, Elaine Chen, D. Swartzlander +2 more
2025Genetics in Medicine Open0 citations Open access
Semantic Scholar
P336: Testing concordance of pathogenicity predictions from orthogonal machine learning algorithms and signal to noise analysis
Trevor Williams, Leonie M. Kurzlechner, Y. Kobayashi, K. Nykamp +2 more
2025Genetics in Medicine Open0 citations Open access
Semantic Scholar
P674: Advancing scientific annotation: Introducing LEAP for efficient literature review
Jackie Tahiliani, K. Ouyang, Christopher Tan, M. Zeman +3 more
2025Genetics in Medicine Open0 citations Open access
Semantic Scholar
P213: Interdisciplinary variant re-classification: FGFR3 as an example of genotypic investigation in suspected skeletal dysplasia population
Ashley Volz, Mitch Bailey, K. Nykamp, N. Ziv +1 more
2025Genetics in Medicine Open0 citations Open access
Semantic Scholar
Abstract 792: Continuous, probabilistic variant interpretation with Bayesian graphical models
W. Korn, Y. Kobayashi, F. Facio, Arun Nampally +5 more
2024Cancer Research0 citations
Semantic Scholar
Abstract 7329: Novel MAVE models for MLH1, MSH2, and PMS2 have high accuracy
W. Korn, S. Padigepati, David A. Stafford, F. Facio +3 more
2024Cancer Research0 citations
Semantic Scholar
P164: Scalable Bayesian variant interpretation of Lynch syndrome genes using genotype and phenotype data for over 1.5M patients referred for testing*
T. Manders, Y. Kobayashi, Alex Wahl, Baxter S. Eaves +4 more
2024Genetics in Medicine Open0 citations Open access
Semantic Scholar
P073: Novel high-throughput functional models for MLH1, MSH2, and PMS2 have high accuracy for clinical variant classification
David A. Stafford, J. Reuter, S. Padigepati, F. Facio +3 more
2024Genetics in Medicine Open0 citations Open access
Semantic Scholar
Cover Image, Volume 193, Number 3, September 2023
S. Aradhya, F. Facio, H. Metz, T. Manders +5 more
2023American Journal of Medical Genetics. Part C, Seminars in Medical Genetics0 citations Open access
Semantic Scholar
P277: Modeling cellular evidence: Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant interpretation
J. Reuter, Yuya Kobayashi, F. Facio, S. Aradhya +3 more
2023Genetics in Medicine Open0 citations Open access
Semantic Scholar
Abstract 13352: The Impact of Machine Learning Models in Reducing Variants of Uncertain Significance in Individuals From Underrepresented Populations Who Are Undergoing Genetic Testing for Heritable Heart Conditions
A. Morales, B. Johnson, F. Facio, Yi-Lee Ting +8 more
2023Circulation0 citations
Semantic Scholar
P244: Developing Bayesian graphical models to provide continuous, probabilistic variant interpretation
Toby R. Manders, Yuya Kobayashi, J. M. Nicoludis, Arun Numpally +5 more
2023Genetics in Medicine Open0 citations Open access
Semantic Scholar
Evaluating gene-disease relationships in motile ciliopathies: an international ClinGen and BEAT-PCD ERS CRC collaboration.
S. Crowley, William Hankey, Marwa Elnagheeb, Rahma Mani +26 more
2023Paediatric respiratory epidemiology0 citations Open access
Semantic Scholar
P490: The impact of machine learning algorithms in reducing VUS for individuals from underrepresented populations compared to well studied populations
B. Johnson, A. Morales, F. Facio, L. Frésard +6 more
2023Genetics in Medicine Open0 citations Open access
Semantic Scholar
CE-454029-2 THE UTILITY OF MACHINE LEARNING TOOLS IN REDUCING VUS IN ARRHYTHMIA GENES FOR INDIVIDUALS FROM UNDERREPRESENTED POPULATIONS COMPARED TO WELL STUDIED POPULATIONS
A. Morales, B. Johnson, M. Vatta, F. Facio +7 more
2023Heart Rhythm0 citations Open access
Semantic Scholar
THE IMPACT OF MACHINE LEARNING MODELS IN REDUCING VARIANTS OF UNCERTAIN SIGNIFICANCE (VUS) FOR INDIVIDUALS FROM UNDERREPRESENTED POPULATIONS WHO ARE UNDERGOING TESTING FOR INHERITED METABOLIC DISORDERS
Britt A. Johnson, F. Facio, A. Morales, L. Frésard +6 more
2023Molecular Genetics and Metabolism0 citations
Semantic Scholar
Machine Learning Tools: Impact in Reducing VUS in Arrhythmia Genes for Individuals From Underrepresented Populations Compared to Well-Studied Populations
S. Aradhya, N. Roczo, L. Burnett, A. Morales +9 more
2023Heart, Lung and Circulation0 citations Open access
Semantic Scholar
Title: A systematic method for detecting abnormal mRNA splicing and assessing its clinical 1 impact in individuals undergoing genetic testing for hereditary cancer syndromes
Nick Kamps-Hughes, Victoria Carlton, Laure Frésard, Steve Osazuwa +6 more
20220 citations
Semantic Scholar
14. Providing more answers for patients with supplemental RNA analysis
L. Frésard, K. Nykamp, Nick Kamp-Hughes, John Vincent +5 more
2022Cancer Genetics0 citations
Semantic Scholar
eP382: Providing more answers for patients with supplemental RNA analysis
K. Nykamp, Nick Kamps-Hughes, John Vincent, S. Albritton +5 more
2022Genetics in Medicine0 citations Open access
Semantic Scholar
Title : Elucidating the phenotypic variability associated with the polyT tract and TG repeats in CFTR
K. Nykamp, R. Truty, D. Riethmaier, J. Wilkinson +5 more
20200 citations
Semantic Scholar

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