Publications by authors named "Neil A Miller"

37 Publications

Long-Distance Phasing of a Tentative "Enhancer" Single-Nucleotide Polymorphism With Star Allele Definitions.

Front Pharmacol 2020 8;11:486. Epub 2020 May 8.

Division of Clinical Pharmacology, Toxicology and Therapeutic Innovation, Children's Mercy Kansas City, Kansas City, MO, United States.

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May 2020

PharmVar and the Landscape of Pharmacogenetic Resources.

Clin Pharmacol Ther 2020 01 23;107(1):43-46. Epub 2019 Nov 23.

Department of Biomedical Data Science, Stanford University, Stanford, California, USA.

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January 2020

Physiologically Based Pharmacokinetic Modelling for First-In-Human Predictions: An Updated Model Building Strategy Illustrated with Challenging Industry Case Studies.

Clin Pharmacokinet 2019 06;58(6):727-746

Pharmaceutical Sciences, Roche Pharma Research and Early Development, Roche Innovation Centre Basel, Basel, Switzerland.

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June 2019

The Evolution of PharmVar.

Clin Pharmacol Ther 2019 01 7;105(1):29-32. Epub 2018 Dec 7.

School of Medicine, University of Missouri-Kansas City, Kansas City, Missouri, USA.

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January 2019

Pharmacogene Variation Consortium Gene Introduction: NUDT15.

Clin Pharmacol Ther 2019 05 4;105(5):1091-1094. Epub 2018 Dec 4.

School of Medicine, University of Missouri-Kansas City, Kansas City, Missouri, USA.

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May 2019

Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth.

PLoS Genet 2018 07 12;14(7):e1007394. Epub 2018 Jul 12.

Division of Human Genetics, Center for Prevention of Preterm Birth, Perinatal Institute, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, March of Dimes Prematurity Research Center Ohio Collaborative, Cincinnati, Ohio, United States of America.

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July 2018

In vivo characterization of CYP2D6*12, *29 and *84 using dextromethorphan as a probe drug: a case report.

Pharmacogenomics 2017 Apr 14;18(5):427-431. Epub 2017 Mar 14.

Center for Pediatric Genomic Medicine, Children's Mercy Kansas City, Kansas City, MO 64108, USA.

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April 2017

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.

Lancet Respir Med 2015 May 27;3(5):377-87. Epub 2015 Apr 27.

Center for Pediatric Genomic Medicine, Children's Mercy-Kansas City, Kansas City, MO, USA; Department of Pediatrics, Children's Mercy-Kansas City, Kansas City, MO, USA; Department of Pathology, Children's Mercy-Kansas City, Kansas City, MO, USA; School of Medicine, University of Missouri-Kansas City, Kansas City, Missouri 64108, USA. Electronic address:

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May 2015

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.

Sci Transl Med 2014 Dec;6(265):265ra168

Center for Pediatric Genomic Medicine, Children's Mercy-Kansas City, Kansas City, MO 64108, USA. Department of Pediatrics, Children's Mercy-Kansas City, Kansas City, MO 64108, USA. School of Medicine, University of Missouri-Kansas City, Kansas City, MO 64108, USA. Department of Pathology, Children's Mercy-Kansas City, Kansas City, MO 64108, USA.

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December 2014

De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.

BMC Med Genomics 2013 Sep 17;6:32. Epub 2013 Sep 17.

Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.

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September 2013

Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing.

Genomics 2013 Nov-Dec;102(5-6):442-7. Epub 2013 Aug 31.

Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pathology, Children's Mercy Hospital, Kansas City, MO 64108, USA; School of Medicine, University of Missouri-Kansas City, Kansas City, MO 64110, USA. Electronic address:

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July 2014

Next-generation community genetics for low- and middle-income countries.

Genome Med 2012 29;4(3):25. Epub 2012 Mar 29.

Center for Pediatric Genomic Medicine, Children's Mercy Hospitals and Clinics, 2401 Gilham Road, Kansas City, MO 64108, USA.

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May 2014

Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing.

Expert Rev Mol Diagn 2011 Nov;11(8):855-68

Children's Mercy Hospital & Clinics, 2401 Gillham Road, Kansas City, MO 64108, USA.

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November 2011