Publications by authors named "Neil A Miller"

37 Publications

ITGB2 (Integrin β2) Immunomodulatory Gene Variants in Premature Infants With Necrotizing Enterocolitis.

Authors:
Lovya George Heather Menden Sheng Xia Wei Yu Anne Holmes Jeffrey Johnston Kimberly J Reid Cassandra D Josephson Ravi M Patel Atif Ahmed Neil Mulrooney Neil A Miller Emily Farrow Venkatesh Sampath

J Pediatr Gastroenterol Nutr 2021 Feb;72(2):e37-e41

Division of Neonatology, Department of Pediatrics, Children's Mercy.

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February 2021

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

Authors:
Erin C Boone Wendy Y Wang Roger Gaedigk Mariana Cherner Anick Bérard J Steven Leeder Neil A Miller Andrea Gaedigk

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.

Authors:
Andrea Gaedigk Michelle Whirl-Carrillo Victoria M Pratt Neil A Miller Teri E Klein

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.

Authors:
Neil A Miller Micaela B Reddy Aki T Heikkinen Viera Lukacova Neil Parrott

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.

Authors:
Andrea Gaedigk Katrin Sangkuhl Michelle Whirl-Carrillo Greyson P Twist Teri E Klein Neil A Miller

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.

Authors:
Jun J Yang Michelle Whirl-Carrillo Stuart A Scott Amy J Turner Matthias Schwab Yoichi Tanaka Guilherme Suarez-Kurtz Elke Schaeffeler Teri E Klein Neil A Miller Andrea Gaedigk

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

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

Authors:
Johanna M Huusko Minna K Karjalainen Britney E Graham Ge Zhang Emily G Farrow Neil A Miller Bo Jacobsson Haley R Eidem Jeffrey C Murray Bruce Bedell Patrick Breheny Noah W Brown Frans L Bødker Nadia K Litterman Pan-Pan Jiang Laura Russell David A Hinds Youna Hu Antonis Rokas Kari Teramo Kaare Christensen Scott M Williams Mika Rämet Stephen F Kingsmore Kelli K Ryckman Mikko Hallman Louis J Muglia

PLoS Genet 2018 09 13;14(9):e1007673. Epub 2018 Sep 13.

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September 2018

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

Authors:
Johanna M Huusko Minna K Karjalainen Britney E Graham Ge Zhang Emily G Farrow Neil A Miller Bo Jacobsson Haley R Eidem Jeffrey C Murray Bruce Bedell Patrick Breheny Noah W Brown Frans L Bødker Nadia K Litterman Pan-Pan Jiang Laura Russell David A Hinds Youna Hu Antonis Rokas Kari Teramo Kaare Christensen Scott M Williams Mika Rämet Stephen F Kingsmore Kelli K Ryckman Mikko Hallman Louis J Muglia

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

The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants.

Authors:
Josh E Petrikin Julie A Cakici Michelle M Clark Laurel K Willig Nathaly M Sweeney Emily G Farrow Carol J Saunders Isabelle Thiffault Neil A Miller Lee Zellmer Suzanne M Herd Anne M Holmes Serge Batalov Narayanan Veeraraghavan Laurie D Smith David P Dimmock J Steven Leeder Stephen F Kingsmore

NPJ Genom Med 2018 9;3. Epub 2018 Feb 9.

Rady Children's Institute for Genomic Medicine, San Diego, CA 92123 USA.

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February 2018

Erratum: Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, , from whole-genome sequences.

Authors:
Greyson P Twist Andrea Gaedigk Neil A Miller Emily G Farrow Laurel K Willig Darrell L Dinwiddie Josh E Petrikin Sarah E Soden Suzanne Herd Margaret Gibson Julie A Cakici Amanda K Riffel J Steven Leeder Deendayal Dinakarpandian Stephen F Kingsmore

NPJ Genom Med 2017 11;2:16039. Epub 2017 Jan 11.

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January 2017

The Pharmacogene Variation (PharmVar) Consortium: Incorporation of the Human Cytochrome P450 (CYP) Allele Nomenclature Database.

Authors:
Andrea Gaedigk Magnus Ingelman-Sundberg Neil A Miller J Steven Leeder Michelle Whirl-Carrillo Teri E Klein

Clin Pharmacol Ther 2018 03 14;103(3):399-401. Epub 2017 Nov 14.

Department of Genetics, Stanford University, Stanford, California, USA.

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March 2018

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

Authors:
Andrea Gaedigk Greyson P Twist Emily G Farrow Jennifer A Lowry Sarah E Soden Neil A Miller

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

Clinical detection of deletion structural variants in whole-genome sequences.

Authors:
Aaron C Noll Neil A Miller Laurie D Smith Byunggil Yoo Stephanie Fiedler Linda D Cooley Laurel K Willig Josh E Petrikin Julie Cakici John Lesko Angela Newton Kali Detherage Isabelle Thiffault Carol J Saunders Emily G Farrow Stephen F Kingsmore

NPJ Genom Med 2016 3;1:16026. Epub 2016 Aug 3.

Heartland Institute for Clinical and Translational Research, University of Kansas Medical Center, Kansas City, KS, USA.

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August 2016

Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, , from whole-genome sequences.

Authors:
Greyson P Twist Andrea Gaedigk Neil A Miller Emily G Farrow Laurel K Willig Darrell L Dinwiddie Josh E Petrikin Sarah E Soden Suzanne Herd Margaret Gibson Julie A Cakici Amanda K Riffel J Steven Leeder Deendayal Dinakarpandian Stephen F Kingsmore

NPJ Genom Med 2016 13;1:15007. Epub 2016 Jan 13.

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

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January 2016

MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.

Authors:
Anne Guimier George C Gabriel Fanny Bajolle Michael Tsang Hui Liu Aaron Noll Molly Schwartz Rajae El Malti Laurie D Smith Nikolai T Klena Gina Jimenez Neil A Miller Myriam Oufadem Anne Moreau de Bellaing Hisato Yagi Carol J Saunders Candice N Baker Sylvie Di Filippo Kevin A Peterson Isabelle Thiffault Christine Bole-Feysot Linda D Cooley Emily G Farrow Cécile Masson Patric Schoen Jean-François Deleuze Patrick Nitschké Stanislas Lyonnet Loic de Pontual Stephen A Murray Damien Bonnet Stephen F Kingsmore Jeanne Amiel Patrice Bouvagnet Cecilia W Lo Christopher T Gordon

Nat Genet 2015 Nov 5;47(11):1260-3. Epub 2015 Oct 5.

Laboratory of Embryology and Genetics of Congenital Malformations, INSERM U1163, Institut Imagine, Paris, France.

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November 2015

A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases.

Authors:
Neil A Miller Emily G Farrow Margaret Gibson Laurel K Willig Greyson Twist Byunggil Yoo Tyler Marrs Shane Corder Lisa Krivohlavek Adam Walter Josh E Petrikin Carol J Saunders Isabelle Thiffault Sarah E Soden Laurie D Smith Darrell L Dinwiddie Suzanne Herd Julie A Cakici Severine Catreux Mike Ruehle Stephen F Kingsmore

Genome Med 2015 Sep 30;7:100. Epub 2015 Sep 30.

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

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September 2015

Renal systems biology of patients with systemic inflammatory response syndrome.

Authors:
Ephraim L Tsalik Laurel K Willig Brandon J Rice Jennifer C van Velkinburgh Robert P Mohney Jonathan E McDunn Darrell L Dinwiddie Neil A Miller Eric S Mayer Seth W Glickman Anja K Jaehne Robert H Glew Mohan L Sopori Ronny M Otero Kevin S Harrod Charles B Cairns Vance G Fowler Emanuel P Rivers Christopher W Woods Stephen F Kingsmore Raymond J Langley

Kidney Int 2015 Oct 20;88(4):804-14. Epub 2015 May 20.

National Center for Genome Resources, Santa Fe, New Mexico, USA.

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October 2015

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

Authors:
Laurel K Willig Josh E Petrikin Laurie D Smith Carol J Saunders Isabelle Thiffault Neil A Miller Sarah E Soden Julie A Cakici Suzanne M Herd Greyson Twist Aaron Noll Mitchell Creed Patria M Alba Shannon L Carpenter Mark A Clements Ryan T Fischer J Allyson Hays Howard Kilbride Ryan J McDonough Jamie L Rosterman Sarah L Tsai Lee Zellmer Emily G Farrow Stephen F Kingsmore

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

Alström Syndrome: Mutation Spectrum of ALMS1.

Authors:
Jan D Marshall Jean Muller Gayle B Collin Gabriella Milan Stephen F Kingsmore Darrell Dinwiddie Emily G Farrow Neil A Miller Francesca Favaretto Pietro Maffei Hélène Dollfus Roberto Vettor Jürgen K Naggert

Hum Mutat 2015 Jul 18;36(7):660-8. Epub 2015 May 18.

The Jackson Laboratory, Bar Harbor, Maine.

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July 2015

An integrated transcriptome and expressed variant analysis of sepsis survival and death.

Authors:
Ephraim L Tsalik Raymond J Langley Darrell L Dinwiddie Neil A Miller Byunggil Yoo Jennifer C van Velkinburgh Laurie D Smith Isabella Thiffault Anja K Jaehne Ashlee M Valente Ricardo Henao Xin Yuan Seth W Glickman Brandon J Rice Micah T McClain Lawrence Carin G Ralph Corey Geoffrey S Ginsburg Charles B Cairns Ronny M Otero Vance G Fowler Emanuel P Rivers Christopher W Woods Stephen F Kingsmore

Genome Med 2014 26;6(11):111. Epub 2014 Nov 26.

National Center for Genome Resources, Santa Fe, NM 87505 USA ; Department of Pediatrics, Center for Translational Sciences, University of New Mexico, Albuquerque, NM 87131 USA.

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December 2014

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

Authors:
Sarah E Soden Carol J Saunders Laurel K Willig Emily G Farrow Laurie D Smith Josh E Petrikin Jean-Baptiste LePichon Neil A Miller Isabelle Thiffault Darrell L Dinwiddie Greyson Twist Aaron Noll Bryce A Heese Lee Zellmer Andrea M Atherton Ahmed T Abdelmoity Nicole Safina Sarah S Nyp Britton Zuccarelli Ingrid A Larson Ann Modrcin Suzanne Herd Mitchell Creed Zhaohui Ye Xuan Yuan Robert A Brodsky Stephen F Kingsmore

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.

Authors:
Darrell L Dinwiddie Sarah E Soden Carol J Saunders Neil A Miller Emily G Farrow Laurie D Smith Stephen F Kingsmore

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.

Authors:
Darrell L Dinwiddie Julia M Bracken Julie A Bass Kathy Christenson Sarah E Soden Carol J Saunders Neil A Miller Vivekanand Singh David L Zwick Charles C Roberts Jignesh Dalal Stephen F Kingsmore

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

An integrated clinico-metabolomic model improves prediction of death in sepsis.

Authors:
Raymond J Langley Ephraim L Tsalik Jennifer C van Velkinburgh Seth W Glickman Brandon J Rice Chunping Wang Bo Chen Lawrence Carin Arturo Suarez Robert P Mohney Debra H Freeman Mu Wang Jinsam You Jacob Wulff J Will Thompson M Arthur Moseley Stephanie Reisinger Brian T Edmonds Brian Grinnell David R Nelson Darrell L Dinwiddie Neil A Miller Carol J Saunders Sarah S Soden Angela J Rogers Lee Gazourian Laura E Fredenburgh Anthony F Massaro Rebecca M Baron Augustine M K Choi G Ralph Corey Geoffrey S Ginsburg Charles B Cairns Ronny M Otero Vance G Fowler Emanuel P Rivers Christopher W Woods Stephen F Kingsmore

Sci Transl Med 2013 Jul;5(195):195ra95

National Center for Genome Resources, Santa Fe, NM 87505, USA.

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July 2013

Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome.

Authors:
Darrell L Dinwiddie Laurie D Smith Neil A Miller Andrea M Atherton Emily G Farrow Meghan E Strenk Sarah E Soden Carol J Saunders Stephen F Kingsmore

Genomics 2013 Sep 28;102(3):148-56. Epub 2013 Apr 28.

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

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September 2013

Combined DOCK8 and CLEC7A mutations causing immunodeficiency in 3 brothers with diarrhea, eczema, and infections.

Authors:
Darrell L Dinwiddie Stephen F Kingsmore Sonia Caracciolo Giuseppe Rossi Daniele Moratto Cinzia Mazza Cristiano Sabelli Rosa Bacchetta Laura Passerini Chiara Magri Callum J Bell Neil A Miller Shannon L Hateley Carol J Saunders Lu Zhang Gary P Schroth Sergio Barlati Raffaele Badolato

J Allergy Clin Immunol 2013 Feb;131(2):594-7.e1-3

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February 2013

Genome sequencing and mapping reveal loss of heterozygosity as a mechanism for rapid adaptation in the vegetable pathogen Phytophthora capsici.

Authors:
Kurt H Lamour Joann Mudge Daniel Gobena Oscar P Hurtado-Gonzales Jeremy Schmutz Alan Kuo Neil A Miller Brandon J Rice Sylvain Raffaele Liliana M Cano Arvind K Bharti Ryan S Donahoo Sabra Finley Edgar Huitema Jon Hulvey Darren Platt Asaf Salamov Alon Savidor Rahul Sharma Remco Stam Dylan Storey Marco Thines Joe Win Brian J Haas Darrell L Dinwiddie Jerry Jenkins James R Knight Jason P Affourtit Cliff S Han Olga Chertkov Erika A Lindquist Chris Detter Igor V Grigoriev Sophien Kamoun Stephen F Kingsmore

Mol Plant Microbe Interact 2012 Oct;25(10):1350-60

University of Tennessee, Knoxville, TN, USA.

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October 2012

Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome.

Authors:
Raffaele Badolato Alberto Prandini Sonia Caracciolo Francesca Colombo Giovanna Tabellini Mauro Giacomelli Maria E Cantarini Andrea Pession Callum J Bell Darrell L Dinwiddie Neil A Miller Shannon L Hateley Carol J Saunders Lu Zhang Gary P Schroth Alessandro Plebani Silvia Parolini Stephen F Kingsmore

Blood 2012 Mar;119(13):3185-7

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March 2012

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

Authors:
Stephen F Kingsmore John D Lantos Darrell L Dinwiddie Neil A Miller Sarah E Soden Emily G Farrow Carol J Saunders

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.

Authors:
Stephen F Kingsmore Darrell L Dinwiddie Neil A Miller Sarah E Soden Carol J Saunders

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