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Neil A. Miller · SciRah

Researcher profile · Semantic Scholar

Neil A. Miller

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Neil A. Miller — researcher profile on SciRah

h-index: 37
Works: 84
Citations: 6,978

Most-cited papers

Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing
C. Bell, D. Dinwiddie, Neil A. Miller, Shannon Hateley +12 more
2011Science Translational Medicine660 citations Open access
Semantic Scholar
Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units
C. Saunders, Neil A. Miller, S. Soden, D. Dinwiddie +19 more
2012Science Translational Medicine637 citations Open access
Semantic Scholar
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders
S. Soden, C. Saunders, L. Willig, E. Farrow +23 more
2014Science Translational Medicine537 citations Open access
Semantic Scholar
Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis
S. Baranzini, J. Mudge, J. V. van Velkinburgh, P. Khankhanian +25 more
2010Nature487 citations Open access
Semantic Scholar
An integrated clinico-metabolomic model improves prediction of death in sepsis
R. Langley, E. Tsalik, J. C. Velkinburgh, Seth W. Glickman +34 more
2013Science Translational Medicine486 citations Open access
Semantic Scholar
Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings
L. Willig, J. Petrikin, Laurie D. Smith, C. Saunders +20 more
2015The Lancet Respiratory Medicine340 citations Open access
Semantic Scholar
C6/36 Aedes albopictus Cells Have a Dysfunctional Antiviral RNA Interference Response
D. Brackney, Jaclyn C. Scott, Fumihiko Sagawa, Jimmy E. Woodward +7 more
2010PLoS Neglected Tropical Diseases330 citations Open access
Semantic Scholar
A highly annotated whole-genome sequence of a Korean individual
Jong-Il Kim, Y. Ju, Hansoo Park, Sheehyun Kim +41 more
2009Nature329 citations Open access
Semantic Scholar
A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases
Neil A. Miller, E. Farrow, M. Gibson, L. Willig +17 more
2015Genome Medicine283 citations Open access
Semantic Scholar
The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants
J. Petrikin, Julie A. Cakici, Michelle M. Clark, L. Willig +14 more
2017npj Genomic Medicine239 citations Open access
Semantic Scholar
Genome sequencing and mapping reveal loss of heterozygosity as a mechanism for rapid adaptation in the vegetable pathogen Phytophthora capsici
K. Lamour, J. Mudge, D. Gobena, Oscar P. Hurtado-Gonzales +31 more
2012Molecular Plant-Microbe Interactions231 citations Open access
Semantic Scholar
Benchmarking challenging small variants with linked and long reads
Justin Wagner, N. Olson, Lindsay Harris, Jennifer H. McDaniel +38 more
2020bioRxiv194 citations Open access
Semantic Scholar
Transcriptome sequencing of malignant pleural mesothelioma tumors
D. Sugarbaker, W. Richards, G. Gordon, Lingsheng Dong +14 more
2008Proceedings of the National Academy of Sciences of the United States of America161 citations Open access
Semantic Scholar
Alström Syndrome: Mutation spectrum of ALMS1
J. Marshall, Jean Muller, G. B. Collin, G. Milan +9 more
2015Human Mutation138 citations Open access
Semantic Scholar
Genomic Convergence Analysis of Schizophrenia: mRNA Sequencing Reveals Altered Synaptic Vesicular Transport in Post-Mortem Cerebellum
J. Mudge, Neil A. Miller, I. Khrebtukova, I. Lindquist +27 more
2008PLoS ONE125 citations Open access
Semantic Scholar
The Evolution of PharmVar
A. Gaedigk, K. Sangkuhl, M. Whirl-Carrillo, Greyson P. Twist +2 more
2018Clinical pharmacology and therapy114 citations Open access
Semantic Scholar
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes
A. Cohen, E. Farrow, A. Abdelmoity, J. Alaimo +86 more
2021medRxiv97 citations Open access
Semantic Scholar
A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization
I. Thiffault, D. Speca, D. C. Austin, Melanie M. Cobb +10 more
2015The Journal of General Physiology90 citations Open access
Semantic Scholar
An integrated transcriptome and expressed variant analysis of sepsis survival and death
E. Tsalik, R. Langley, D. Dinwiddie, Neil A. Miller +20 more
2014Genome Medicine90 citations Open access
Semantic Scholar
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates
A. Guimier, George C. Gabriel, F. Bajolle, Michael Tsang +32 more
2015Nature Genetics84 citations Open access
Semantic Scholar
Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences
Greyson P. Twist, A. Gaedigk, Neil A. Miller, Emily G. Farrow +11 more
2016npj Genomic Medicine78 citations Open access
Semantic Scholar
Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome
D. Dinwiddie, Laurie D. Smith, Neil A. Miller, A. Atherton +5 more
2013Genomics78 citations Open access
Semantic Scholar
Management of High-Throughput DNA Sequencing Projects: Alpheus
Neil A. Miller, S. Kingsmore, A. Farmer, R. Langley +17 more
2008Journal of computer science and systems biology78 citations Open access
Semantic Scholar
A diploid assembly-based benchmark for variants in the major histocompatibility complex
C. Chin, Justin Wagner, Q. Zeng, Erik Garrison +22 more
2019Nature Communications77 citations Open access
Semantic Scholar
Next-generation community genetics for low- and middle-income countries
S. Kingsmore, J. Lantos, D. Dinwiddie, Neil A. Miller +3 more
2012Genome Medicine74 citations Open access
Semantic Scholar
CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.
C. Saunders, Laurie D. Smith, F. Wibrand, K. Ravn +8 more
2015American Journal of Human Genetics66 citations Open access
Semantic Scholar
PharmVar and the Landscape of Pharmacogenetic Resources
A. Gaedigk, M. Whirl-Carrillo, V. Pratt, Neil A. Miller +1 more
2019Clinical pharmacology and therapy64 citations Open access
Semantic Scholar
De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies
D. Dinwiddie, S. Soden, C. Saunders, Neil A. Miller +3 more
2013BMC Medical Genomics60 citations Open access
Semantic Scholar
Renal systems biology of patients with systemic inflammatory response syndrome
E. Tsalik, L. Willig, B. J. Rice, J. V. van Velkinburgh +17 more
2015Kidney International55 citations Open access
Semantic Scholar
Pharmacogene Variation (PharmVar) Consortium gene introduction: NUDT15
Jun J. Yang, M. Whirl-Carrillo, S. Scott, A. Turner +7 more
2018Clinical pharmacology and therapy52 citations Open access
Semantic Scholar
Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing
S. Kingsmore, D. Dinwiddie, Neil A. Miller, S. Soden +1 more
2011Expert Review of Molecular Diagnostics51 citations Open access
Semantic Scholar
Exome Sequencing Reveals De Novo Germline Mutation of the Mammalian Target of Rapamycin (MTOR) in a Patient with Megalencephaly and Intractable Seizures
Laurie D. Smith, C. Saunders, D. Dinwiddie, A. Atherton +5 more
201350 citations
Semantic Scholar
PCDH19‐related epileptic encephalopathy in a male mosaic for a truncating variant
I. Thiffault, E. Farrow, Laurie D. Smith, J. Lowry +6 more
2016American Journal of Medical Genetics. Part A45 citations
Semantic Scholar
CYP2C8, CYP2C9 and CYP2C19 characterization using Next Generation Sequencing and Haplotype Analysis: A GeT-RM Collaborative Project
A. Gaedigk, Erin C. Boone, S. Scherer, Seung‐been Lee +14 more
2022Journal of Molecular Diagnostics44 citations Open access
Semantic Scholar
Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth
Johanna M. Huusko, Minna K. Karjalainen, Britney E. Graham, Ge Zhang +23 more
2018PLoS Genetics42 citations Open access
Semantic Scholar
Clinical genome sequencing in an unbiased pediatric cohort
I. Thiffault, E. Farrow, L. Zellmer, C. Berrios +7 more
2018Genetics in Medicine41 citations Open access
Semantic Scholar
Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing
D. Dinwiddie, J. Bracken, J. Bass, K. Christenson +8 more
2013Genomics41 citations Open access
Semantic Scholar
A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes
I. Thiffault, C. Saunders, J. Jenkins, N. Raje +11 more
2015BMC Medical Genetics33 citations Open access
Semantic Scholar
Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2γ recapitulate the mitochondriopathy of the homologous null mouse
Carol J Saunders, Sung Ho Moon, Xin-Ping Liu, I. Thiffault +10 more
2015Human Mutation33 citations Open access
Semantic Scholar
Clinical detection of deletion structural variants in whole-genome sequences
A. Noll, Neil A. Miller, Laurie D. Smith, B. Yoo +12 more
2016npj Genomic Medicine30 citations Open access
Semantic Scholar
Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype
Florian Job, S. Mizumoto, Laurie D. Smith, Natario L. Couser +12 more
2016BMC Medical Genetics26 citations Open access
Semantic Scholar
Combined DOCK8 and CLEC7A mutations causing immunodeficiency in three brothers with diarrhea, eczema and infections
D. Dinwiddie, S. Kingsmore, S. Caracciolo, G. Rossi +14 more
2013Journal of Allergy and Clinical Immunology24 citations Open access
Semantic Scholar
Factors affecting migration to GRCh38 in laboratories performing clinical next-generation sequencing.
L. Lansdon, Maxime Cadieux-Dion, B. Yoo, Neil A. Miller +12 more
2021Journal of Molecular Diagnostics22 citations
Semantic Scholar
POLR3A variants in hereditary spastic paraplegia and ataxia.
L. Gauquelin, M. Tétreault, I. Thiffault, E. Farrow +13 more
2018Brain : a journal of neurology20 citations Open access
Semantic Scholar
HLA-B*07:02 and HLA-C*07:02 are associated with trimethoprim-sulfamethoxazole respiratory failure
J. Goldman, Jenna O. Miller, Neil A. Miller, R. Eveleigh +3 more
2022The Pharmacogenomics Journal19 citations Open access
Semantic Scholar
Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease
I. Thiffault, Britton D. Zuccarelli, H. Welsh, Xuan Yuan +7 more
2017BMC Medical Genetics19 citations Open access
Semantic Scholar
MicroRNA Content of Ewing Sarcoma Derived Extracellular Vesicles Leads to Biomarker Potential and Identification of a Previously Undocumented EWS-FLI1 Translocation
Jennifer Crow, G. Samuel, E. Farrow, M. Gibson +9 more
2022Biomarker Insights14 citations Open access
Semantic Scholar
Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing
I. Thiffault, A. Atherton, B. Heese, A. Abdelmoity +6 more
2020Cold Spring Harbor molecular case studies13 citations Open access
Semantic Scholar
Long-Distance Phasing of a Tentative “Enhancer” Single-Nucleotide Polymorphism With CYP2D6 Star Allele Definitions
Erin C. Boone, Wendy Y. Wang, R. Gaedigk, M. Cherner +4 more
2020Frontiers in Pharmacology12 citations Open access
Semantic Scholar
On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencing
I. Thiffault, Maxime Cadieux-Dion, E. Farrow, R. Caylor +3 more
2018Human Mutation12 citations Open access
Semantic Scholar

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L. Willig — researcher profile on SciRah

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J. Mudge — researcher profile on SciRah

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M. Gibson — researcher profile on SciRah