The Pharmacogene Variation (PharmVar) Consortium: Incorporation of the Human Cytochrome P450 (CYP) Allele Nomenclature Database
Gaedigk, Andrea, Ingelman‐Sundberg, Magnus, Miller, Neil A., Leeder, J. Steven, Whirl‐Carrillo, Michelle, Klein, Teri E.
Published in Clinical pharmacology and therapeutics (01.03.2018)
Published in Clinical pharmacology and therapeutics (01.03.2018)
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Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders
Soden, Sarah E, Saunders, Carol J, Willig, Laurel K, Farrow, Emily G, Smith, Laurie D, Petrikin, Josh E, LePichon, Jean-Baptiste, Miller, Neil A, Thiffault, Isabelle, Dinwiddie, Darrell L, Twist, Greyson, Noll, Aaron, Heese, Bryce A, Zellmer, Lee, Atherton, Andrea M, Abdelmoity, Ahmed T, Safina, Nicole, Nyp, Sarah S, Zuccarelli, Britton, Larson, Ingrid A, Modrcin, Ann, Herd, Suzanne, Creed, Mitchell, Ye, Zhaohui, Yuan, Xuan, Brodsky, Robert A, Kingsmore, Stephen F
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Published in Science translational medicine (03.12.2014)
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Carrier testing for severe childhood recessive diseases by next-generation sequencing
Bell, Callum J, Dinwiddie, Darrell L, Miller, Neil A, Hateley, Shannon L, Ganusova, Elena E, Mudge, Joann, Langley, Ray J, Zhang, Lu, Lee, Clarence C, Schilkey, Faye D, Sheth, Vrunda, Woodward, Jimmy E, Peckham, Heather E, Schroth, Gary P, Kim, Ryan W, Kingsmore, Stephen F
Published in Science translational medicine (12.01.2011)
Published in Science translational medicine (12.01.2011)
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Genome Sequencing and Mapping Reveal Loss of Heterozygosity as a Mechanism for Rapid Adaptation in the Vegetable Pathogen Phytophthora capsici
LAMOUR, Kurt H, MUDGE, Joann, BHARTI, Arvind K, DONAHOO, Ryan S, FINLEY, Sabra, HUITEMA, Edgar, HULVEY, Jon, PLATT, Darren, SALAMOV, Asaf, SAVIDOR, Alon, SHARMA, Rahul, STAM, Remco, GOBENA, Daniel, STOREY, Dylan, THINES, Marco, WIN, Joe, HAAS, Brian J, DINWIDDIE, Darrell L, JENKINS, Jerry, KNIGHT, James R, AFFOURTIT, Jason P, HAN, Cliff S, CHERTKOV, Olga, HURTADO-GONZALES, Oscar P, LINDQUIST, Erika A, DETTER, Chris, GRIGORIEV, Igor V, KAMOUN, Sophien, KINGSMORE, Stephen F, SCHMUTZ, Jeremy, KUO, Alan, MILLER, Neil A, RICE, Brandon J, RAFFAELE, Sylvain, CANO, Liliana M
Published in Molecular plant-microbe interactions (01.10.2012)
Published in Molecular plant-microbe interactions (01.10.2012)
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C6/36 Aedes albopictus cells have a dysfunctional antiviral RNA interference response
Brackney, Doug E, Scott, Jaclyn C, Sagawa, Fumihiko, Woodward, Jimmy E, Miller, Neil A, Schilkey, Faye D, Mudge, Joann, Wilusz, Jeffrey, Olson, Ken E, Blair, Carol D, Ebel, Gregory D
Published in PLoS neglected tropical diseases (26.10.2010)
Published in PLoS neglected tropical diseases (26.10.2010)
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MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates
Guimier, Anne, Gabriel, George C, Bajolle, Fanny, Tsang, Michael, Liu, Hui, Noll, Aaron, Schwartz, Molly, El Malti, Rajae, Smith, Laurie D, Klena, Nikolai T, Jimenez, Gina, Miller, Neil A, Oufadem, Myriam, Moreau de Bellaing, Anne, Yagi, Hisato, Saunders, Carol J, Baker, Candice N, Di Filippo, Sylvie, Peterson, Kevin A, Thiffault, Isabelle, Bole-Feysot, Christine, Cooley, Linda D, Farrow, Emily G, Masson, Cécile, Schoen, Patric, Deleuze, Jean-François, Nitschké, Patrick, Lyonnet, Stanislas, de Pontual, Loic, Murray, Stephen A, Bonnet, Damien, Kingsmore, Stephen F, Amiel, Jeanne, Bouvagnet, Patrice, Lo, Cecilia W, Gordon, Christopher T
Published in Nature genetics (01.11.2015)
Published in Nature genetics (01.11.2015)
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Long-Distance Phasing of a Tentative "Enhancer" Single-Nucleotide Polymorphism With CYP2D6 Star Allele Definitions
Boone, Erin C, Wang, Wendy Y, Gaedigk, Roger, Cherner, Mariana, Bérard, Anick, Leeder, J Steven, Miller, Neil A, Gaedigk, Andrea
Published in Frontiers in pharmacology (08.05.2020)
Published in Frontiers in pharmacology (08.05.2020)
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Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak–like primary immunodeficiency syndrome
Badolato, Raffaele, Prandini, Alberto, Caracciolo, Sonia, Colombo, Francesca, Tabellini, Giovanna, Giacomelli, Mauro, Cantarini, Maria E., Pession, Andrea, Bell, Callum J., Dinwiddie, Darrell L., Miller, Neil A., Hateley, Shannon L., Saunders, Carol J., Zhang, Lu, Schroth, Gary P., Plebani, Alessandro, Parolini, Silvia, Kingsmore, Stephen F.
Published in Blood (29.03.2012)
Published in Blood (29.03.2012)
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Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences
Twist, Greyson P, Gaedigk, Andrea, Miller, Neil A, Farrow, Emily G, Willig, Laurel K, Dinwiddie, Darrell L, Petrikin, Josh E, Soden, Sarah E, Herd, Suzanne, Gibson, Margaret, Cakici, Julie A, Riffel, Amanda K, Leeder, J Steven, Dinakarpandian, Deendayal, Kingsmore, Stephen F
Published in Npj genomic medicine (13.01.2016)
Published in Npj genomic medicine (13.01.2016)
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Transcriptome sequencing of malignant pleural mesothelioma tumors
Sugarbaker, David J, Richards, William G, Gordon, Gavin J, Dong, Lingsheng, De Rienzo, Assunta, Maulik, Gautam, Glickman, Jonathan N, Chirieac, Lucian R, Hartman, Mor-Li, Taillon, Bruce E, Du, Lei, Bouffard, Pascal, Kingsmore, Stephen F, Miller, Neil A, Farmer, Andrew D, Jensen, Roderick V, Gullans, Steven R, Bueno, Raphael
Published in Proceedings of the National Academy of Sciences - PNAS (04.03.2008)
Published in Proceedings of the National Academy of Sciences - PNAS (04.03.2008)
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Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing
Dinwiddie, Darrell L., Bracken, Julia M., Bass, Julie A., Christenson, Kathy, Soden, Sarah E., Saunders, Carol J., Miller, Neil A., Singh, Vivekanand, Zwick, David L., Roberts, Charles C., Dalal, Jignesh, Kingsmore, Stephen F.
Published in Genomics (San Diego, Calif.) (01.11.2013)
Published in Genomics (San Diego, Calif.) (01.11.2013)
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Correction: Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth
Huusko, Johanna M, Karjalainen, Minna K, Graham, Britney E, Zhang, Ge, Farrow, Emily G, Miller, Neil A, Jacobsson, Bo, Eidem, Haley R, Murray, Jeffrey C, Bedell, Bruce, Breheny, Patrick, Brown, Noah W, Bødker, Frans L, Litterman, Nadia K, Jiang, Pan-Pan, Russell, Laura, Hinds, David A, Hu, Youna, Rokas, Antonis, Teramo, Kari, Christensen, Kaare, Williams, Scott M, Rämet, Mika, Kingsmore, Stephen F, Ryckman, Kelli K, Hallman, Mikko, Muglia, Louis J
Published in PLoS genetics (13.09.2018)
Published in PLoS genetics (13.09.2018)
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Physiologically Based Pharmacokinetic Modelling for First-In-Human Predictions: An Updated Model Building Strategy Illustrated with Challenging Industry Case Studies
Miller, Neil A., Reddy, Micaela B., Heikkinen, Aki T., Lukacova, Viera, Parrott, Neil
Published in Clinical pharmacokinetics (01.06.2019)
Published in Clinical pharmacokinetics (01.06.2019)
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The Evolution of PharmVar
Gaedigk, Andrea, Sangkuhl, Katrin, Whirl‐Carrillo, Michelle, Twist, Greyson P., Klein, Teri E., Miller, Neil A.
Published in Clinical pharmacology and therapeutics (01.01.2019)
Published in Clinical pharmacology and therapeutics (01.01.2019)
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Journal Article
PharmVar and the Landscape of Pharmacogenetic Resources
Gaedigk, Andrea, Whirl-Carrillo, Michelle, Pratt, Victoria M, Miller, Neil A, Klein, Teri E
Published in Clinical pharmacology and therapeutics (01.01.2020)
Published in Clinical pharmacology and therapeutics (01.01.2020)
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Combined DOCK8 and CLEC7A mutations causing immunodeficiency in 3 brothers with diarrhea, eczema, and infections
Dinwiddie, Darrell L., PhD, Kingsmore, Stephen F., MB, ChB, BAO, DSc, Caracciolo, Sonia, PhD, Rossi, Giuseppe, MD, Moratto, Daniele, PhD, Mazza, Cinzia, PhD, Sabelli, Cristiano, PhD, Bacchetta, Rosa, MD, Passerini, Laura, PhD, Magri, Chiara, PhD, Bell, Callum J., PhD, Miller, Neil A., BA, Hateley, Shannon L., BA, Saunders, Carol J., PhD, Zhang, Lu, BS, Schroth, Gary P., PhD, Barlati, Sergio, MD, Badolato, Raffaele, MD, PhD
Published in Journal of allergy and clinical immunology (01.02.2013)
Published in Journal of allergy and clinical immunology (01.02.2013)
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Alström Syndrome: Mutation Spectrum of ALMS1
Marshall, Jan D., Muller, Jean, Collin, Gayle B., Milan, Gabriella, Kingsmore, Stephen F., Dinwiddie, Darrell, Farrow, Emily G., Miller, Neil A., Favaretto, Francesca, Maffei, Pietro, Dollfus, Hélène, Vettor, Roberto, Naggert, Jürgen K.
Published in Human mutation (01.07.2015)
Published in Human mutation (01.07.2015)
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A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases
Miller, Neil A, Farrow, Emily G, Gibson, Margaret, Willig, Laurel K, Twist, Greyson, Yoo, Byunggil, Marrs, Tyler, Corder, Shane, Krivohlavek, Lisa, Walter, Adam, Petrikin, Josh E, Saunders, Carol J, Thiffault, Isabelle, Soden, Sarah E, Smith, Laurie D, Dinwiddie, Darrell L, Herd, Suzanne, Cakici, Julie A, Catreux, Severine, Ruehle, Mike, Kingsmore, Stephen F
Published in Genome medicine (30.09.2015)
Published in Genome medicine (30.09.2015)
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