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Kevin M. Bowling
Kevin M. Bowling
HudsonAlpha Institute for Biotechnology
Verified email at wustl.edu
Title
Cited by
Cited by
Year
Dynamic DNA methylation across diverse human cell lines and tissues
KE Varley, J Gertz, KM Bowling, SL Parker, TE Reddy, F Pauli-Behn, ...
Genome research 23 (3), 555-567, 2013
7832013
Performance of ACMG-AMP variant-interpretation guidelines among nine laboratories in the clinical sequencing exploratory research consortium
LM Amendola, GP Jarvik, MC Leo, HM McLaughlin, Y Akkari, MD Amaral, ...
The American Journal of Human Genetics 98 (6), 1067-1076, 2016
5962016
Analysis of DNA methylation in a three-generation family reveals widespread genetic influence on epigenetic regulation
J Gertz, KE Varley, TE Reddy, KM Bowling, F Pauli, SL Parker, KS Kucera, ...
PLoS genetics 7 (8), e1002228, 2011
3482011
Genomic diagnosis for children with intellectual disability and/or developmental delay
KM Bowling, ML Thompson, MD Amaral, CR Finnila, SM Hiatt, KL Engel, ...
Genome medicine 9, 1-11, 2017
2212017
Interaction of genetic and environmental factors in a Drosophila parkinsonism model
A Chaudhuri, K Bowling, C Funderburk, H Lawal, A Inamdar, Z Wang, ...
Journal of Neuroscience 27 (10), 2457-2467, 2007
2202007
Clinical sequencing exploratory research consortium: accelerating evidence-based practice of genomic medicine
RC Green, KAB Goddard, GP Jarvik, LM Amendola, PS Appelbaum, ...
The American Journal of Human Genetics 98 (6), 1051-1066, 2016
1672016
Recurrent read-through fusion transcripts in breast cancer
KE Varley, J Gertz, BS Roberts, NS Davis, KM Bowling, MK Kirby, ...
Breast cancer research and treatment 146, 287-297, 2014
1662014
Post-mortem molecular profiling of three psychiatric disorders
RC Ramaker, KM Bowling, BN Lasseigne, MH Hagenauer, AA Hardigan, ...
Genome medicine 9, 1-12, 2017
1632017
Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy
RS Mĝller, S Weckhuysen, M Chipaux, E Marsan, V Taly, EM Bebin, ...
Neurology: Genetics 2 (6), e118, 2016
1482016
Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study
MR Hart, BB Biesecker, CL Blout, KD Christensen, LM Amendola, ...
Genetics in Medicine 21 (5), 1100-1110, 2019
1442019
Whole-exome sequencing in familial Parkinson disease
JL Farlow, LA Robak, K Hetrick, K Bowling, E Boerwinkle, ...
JAMA neurology 73 (1), 68-75, 2016
802016
Mutations in EBF3 disturb transcriptional profiles and cause intellectual disability, ataxia, and facial dysmorphism
FL Harms, KM Girisha, AA Hardigan, F Kortüm, A Shukla, M Alawi, A Dalal, ...
The American Journal of Human Genetics 100 (1), 117-127, 2017
732017
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories
JM O’Daniel, HM McLaughlin, LM Amendola, SJ Bale, JS Berg, D Bick, ...
Genetics in Medicine 19 (5), 575-582, 2017
712017
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder
L Snijders Blok, SM Hiatt, KM Bowling, JW Prokop, KL Engel, JN Cochran, ...
Human genetics 137, 375-388, 2018
642018
Variant classification concordance using the ACMG-AMP variant interpretation guidelines across nine genomic implementation research studies
LM Amendola, K Muenzen, LG Biesecker, KM Bowling, GM Cooper, ...
The American Journal of Human Genetics 107 (5), 932-941, 2020
532020
Direct binding of GTP cyclohydrolase and tyrosine hydroxylase: regulatory interactions between key enzymes in dopamine biosynthesis
KM Bowling, Z Huang, D Xu, F Ferdousy, CD Funderburk, N Karnik, ...
Journal of biological chemistry 283 (46), 31449-31459, 2008
532008
Systematic reanalysis of genomic data improves quality of variant interpretation
SM Hiatt, MD Amaral, KM Bowling, CR Finnila, ML Thompson, DE Gray, ...
Clinical genetics 94 (1), 174-178, 2018
412018
Eliciting preferences on secondary findings: the Preferences Instrument for Genomic Secondary Results
KB Brothers, KM East, WV Kelley, MF Wright, MJ Westbrook, CA Rich, ...
Genetics in Medicine 19 (3), 337-344, 2017
402017
Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders
SM Hiatt, JMJ Lawlor, LH Handley, RC Ramaker, BB Rogers, ...
Human Genetics and Genomics Advances 2 (2), 2021
382021
A typical N-terminal extensions confer novel regulatory properties on GTP cyclohydrolase isoforms in Drosophila melanogaster
CD Funderburk, KM Bowling, D Xu, Z Huang, JM O'Donnell
Journal of biological chemistry 281 (44), 33302-33312, 2006
342006
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