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2016
Analysis of protein-coding genetic variation in 60,706 humans.Lek, M., Karczewski KJ, Minikel EV, Samocha KE, Banks E., Fennell T., O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T., Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K., Zhao F., Zou J., Pierce-Hoffman E., Berghout J., Cooper DN, et al. Nature, 2016/08/17, Volume 536, Issue 7616, p.285-91, (2016) Read More / View Supplemental Materials
Abstract
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.Kim, JH, Shinde DN, Reijnders MR, Hauser NS, Belmonte RL, Wilson GR, Bosch DG, Bubulya PA, Shashi V., Petrovski S., Stone JK, Park EY, Veltman JA, Sinnema M., Stumpel CT, Draaisma JM, Nicolai J., University of Washington Center for Mendelian Genomics, Yntema HG, Lindstrom K., et al. American journal of human genetics, 2016/08/17, (2016) Read More / View Supplemental Materials
Abstract
Patterns of genic intolerance of rare copy number variation in 59,898 human exomes.Ruderfer, DM, Hamamsy T., Lek M., Karczewski KJ, Kavanagh D., Samocha KE, Exome Aggregation Consortium, Daly M. J., Macarthur DG, Fromer M., and Purcell SM Nature genetics, 2016/08/17, (2016) Read More / View Supplemental Materials
Abstract
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.Walsh, R., Thomson KL, Ware JS, Funke BH, Woodley J., McGuire KJ, Mazzarotto F., Blair E., Seller A., Taylor JC, Minikel EV, Exome Aggregation Consortium, Macarthur DG, Farrall M., Cook SA, and Watkins H. Genetics in medicine : official journal of the American College of Medical Genetics, 2016/08/17, (2016) Read More / View Supplemental Materials
Abstract
A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.Rivas, MA, Graham D., Sulem P., Stevens C., Desch AN, Goyette P., Gudbjartsson D., Jonsdottir I., Thorsteinsdottir U., Degenhardt F., Mucha S., Kurki MI, Li D., D'Amato M., Annese V., Vermeire S., Weersma RK, Halfvarson J., Paavola-Sakki P., Lappalainen M., et al. Nature communications, 2016/08/09, Volume 7, p.12342, (2016) Read More / View Supplemental Materials
Abstract
TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy.Ghaoui, R., Benavides T., Lek M., Waddell LB, Kaur S., North KN, Macarthur DG, Clarke NF, and Cooper ST Neuromuscular disorders : NMD, 2016/05/24, (2016) Read More / View Supplemental Materials
Abstract
Diagnosis and aetiology of congenital muscular dystrophy: we are halfway there.O'Grady, GL, Lek M., Lamande SR, Waddell L., Oates EC, Punetha J., Ghaoui R., Sandaradura SA, Best H., Kaur S., Davis M., Laing NG, Muntoni F., Hoffman E., Macarthur DG, Clarke NF, Cooper S., and North K. Annals of neurology, 2016/05/09, (2016) Read More / View Supplemental Materials
Abstract
Health and population effects of rare gene knockouts in adult humans with related parents.Narasimhan, VM, Hunt KA, Mason D., Baker CL, Karczewski KJ, Barnes MR, Barnett AH, Bates C., Bellary S., Bockett NA, Giorda K., Griffiths CJ, Hemingway H., Jia Z., Kelly MA, Khawaja HA, Lek M., McCarthy S., McEachan R., O'Donnell-Luria A., et al. Science (New York, N.Y.), 2016/03/03, (2016) Read More / View Supplemental Materials
Abstract
A homozygous nonsense mutation in SGCA is a common cause of LGMD in Assiut, Egypt.Reddy, HM, Hamed SA, Lek M., Mitsuhashi S., Estrella E., Jones MD, Mahoney LJ, Duncan AR, Cho K., Macarthur DG, Kunkel LM, and Kang PB Muscle & nerve, 2016/03/02, (2016) Read More / View Supplemental Materials
Abstract
Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease.O'Grady, GL, Ma A., Sival D., Wong MT, Peduto T., Menezes MP, Young H., Waddell L., Ghaoui R., Needham M., Lek M., North KN, Macarthur DG, van Ravenswaaij-Arts CM, and Clarke NF European journal of human genetics : EJHG, 2016/01/27, (2016) Read More / View Supplemental Materials
Abstract
An eMERGE Clinical Center at Partners Personalized Medicine.Smoller, JW, Karlson EW, Green RC, Kathiresan S., Macarthur DG, Talkowski ME, Murphy SN, and Weiss ST Journal of personalized medicine, 2016/01/20, Volume 6, Issue 1, (2016) Read More / View Supplemental Materials
Abstract
Quantifying prion disease penetrance using large population control cohorts.Minikel, EV, Vallabh SM, Lek M., Estrada K., Samocha KE, Sathirapongsasuti JF, McLean CY, Tung JY, Yu LP, Gambetti P., Blevins J., Zhang S., Cohen Y., Chen W., Yamada M., Hamaguchi T., Sanjo N., Mizusawa H., Nakamura Y., Kitamoto T., et al. Science translational medicine, 2016/01/20, Volume 8, Issue 322, p.322ra9, (2016) Read More / View Supplemental Materials
Abstract
2015
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.Ghaoui, R., Palmio J., Brewer J., Lek M., Needham M., Evilä A., Hackman P., Jonson PH, Penttilä S., Vihola A., Huovinen S., Lindfors M., Davis RL, Waddell L., Kaur S., Yiannikas C., North K., Clarke N., Macarthur DG, Sue CM, et al. Neurology, 2015/12/30, (2015) Read More / View Supplemental Materials
Abstract
Analysis of the ACTN3 Heterozygous Genotype Suggests That α-Actinin-3 Controls Sarcomeric Composition and Muscle Function in a Dose-Dependent Fashion.Hogarth, MW, Garton FC, Houweling PJ, Tukiainen T., Lek M., Macarthur DG, Seto JT, Quinlan KG, Yang N., Head SI, and North KN Human molecular genetics, 2015/12/17, (2015) Read More / View Supplemental Materials
Abstract
A respiratory chain controlled signal transduction cascade in the mitochondrial intermembrane space mediates hydrogen peroxide signaling.Patterson, HC, Gerbeth C., Thiru P., Vögtle NF, Knoll M., Shahsafaei A., Samocha KE, Huang CX, Harden MM, Song R., Chen C., Kao J., Shi J., Salmon W., Shaul YD, Stokes MP, Silva JC, Bell GW, Macarthur DG, Ruland J., et al. Proceedings of the National Academy of Sciences of the United States of America, 2015/10/05, (2015) Read More / View Supplemental Materials
Abstract
Concept and design of a genome-wide association genotyping array tailored for transplantation-specific studies.Li, YR, van Setten J., Verma SS, Lu Y., Holmes MV, Gao H., Lek M., Nair N., Chandrupatla H., Chang B., Karczewski KJ, Wong C., Mohebnasab M., Mukhtar E., Phillips R., Tragante V., Hou C., Steel L., Lee T., Garifallou J., et al. Genome medicine, 2015/10/01, Volume 7, Issue 1, p.90, (2015) Read More / View Supplemental Materials
Abstract
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol (GPI) deficiencies.Ilkovski, B., Pagnamenta AT, O'Grady GL, Kinoshita T., Howard MF, Lek M., Thomas B., Turner A., Christodoulou J., Sillence D., Knight SJ, Popitsch N., Keays DA, Anzilotti C., Goriely A., Waddell LB, Brilot F., North KN, Kanzawa N., Macarthur DG, et al. Human molecular genetics, 2015/08/20, (2015) Read More / View Supplemental Materials
Abstract
Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome.Rivas, MA, Pirinen M., Conrad DF, Lek M., Tsang EK, Karczewski KJ, Maller JB, Kukurba KR, Deluca DS, Fromer M., Ferreira PG, Smith KS, Zhang R., Zhao F., Banks E., Poplin R., Ruderfer DM, Purcell SM, Tukiainen T., Minikel EV, et al. Science (New York, N.Y.), 2015/05/08, Volume 348, Issue 6235, p.666-9, (2015) Read More / View Supplemental Materials
Abstract
Expanding the phenotype of GMPPB mutations.Cabrera-Serrano, M., Ghaoui R., Ravenscroft G., Johnsen RD, Davis MR, Corbett A., Reddel S., Sue CM, Liang C., Waddell LB, Kaur S., Lek M., North KN, Macarthur DG, Lamont PJ, Clarke NF, and Laing NG Brain : a journal of neurology, 2015/02/12, (2015) Read More / View Supplemental Materials
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2014
A framework for the interpretation of de novo mutation in human disease.Samocha, KE, Robinson EB, Sanders SJ, Stevens C., Sabo A., McGrath LM, Kosmicki JA, Rehnström K., Mallick S., Kirby A., Wall DP, Macarthur DG, Gabriel SB, DePristo M., Purcell SM, Palotie A., Boerwinkle E., Buxbaum JD, Cook EH Jr, Gibbs RA, et al. Nature genetics, 2014/08/03, (2014) Read More / View Supplemental Materials
Abstract
Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population.Lim, ET, Würtz P., Havulinna AS, Palta P., Tukiainen T., Rehnström K., Esko T., Mägi R., Inouye M., Lappalainen T., Chan Y., Salem RM, Lek M., Flannick J., Sim X., Manning A., Ladenvall C., Bumpstead S., Hämäläinen E., Aalto K., et al. PLoS genetics, 2014/07/01, Volume 10, Issue 7, p.e1004494, (2014) Read More / View Supplemental Materials
Abstract
Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population.Consortium, SIGMA Type Diabetes 2, Estrada K., Aukrust I., Bjørkhaug L., Burtt NP, Mercader JM, García-Ortiz H., Huerta-Chagoya A., Moreno-Macías H., Walford G., Flannick J., Williams AL, Gómez-Vázquez MJ, Fernandez-Lopez JC, Martínez-Hernández A., Centeno-Cruz F., Mendoza-Caamal E., Revilla-Monsalve C., Islas-Andrade S., Córdova EJ, et al. JAMA : the journal of the American Medical Association, 2014/06/11, Volume 311, Issue 22, p.2305-14, (2014) Read More / View Supplemental Materials
Abstract
Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease.Menezes, MP, Waddell L., Lenk GM, Kaur S., Macarthur DG, Meisler MH, and Clarke NF Neuromuscular disorders : NMD, 2014/05/04, (2014) Read More / View Supplemental Materials
Abstract
Allelic Expression of Deleterious Protein-Coding Variants across Human Tissues.Kukurba, KR, Zhang R., Li X., Smith KS, Knowles DA, How Tan M., Piskol R., Lek M., Snyder M., Macarthur DG, Li JB, and Montgomery SB PLoS genetics, 2014/05/01, Volume 10, Issue 5, p.e1004304, (2014) Read More / View Supplemental Materials
Abstract
Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy.Sergouniotis, PI, Chakarova C., Murphy C., Becker M., Lenassi E., Arno G., Lek M., Macarthur DG, UCL-Exomes Consortium, Bhattacharya SS, Moore AT, Holder GE, Robson AG, Wolfrum U., Webster AR, and Plagnol V. American journal of human genetics, 2014/05/01, Volume 94, Issue 5, p.760-9, (2014) Read More / View Supplemental Materials
Abstract
Guidelines for investigating causality of sequence variants in human disease.Macarthur, DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J., Abecasis GR, Adams DR, Altman RB, Antonarakis SE, Ashley EA, Barrett JC, Biesecker LG, Conrad DF, Cooper GM, Cox NJ, Daly M. J., Gerstein MB, Goldstein DB, Hirschhorn JN, Leal SM, et al. Nature, 2014/04/24, Volume 508, Issue 7497, p.469-76, (2014) Read More / View Supplemental Materials
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2013
Response to 'Predicting the diagnosis of autism spectrum disorder using gene pathway analysis'Robinson, EB, Howrigan D., Yang J., Ripke S., Anttila V., Duncan LE, Jostins L., Barrett JC, Medland SE, Macarthur DG, Breen G., O'Donovan MC, Wray NR, Devlin B., Daly M. J., Visscher PM, Sullivan PF, and Neale BM Molecular psychiatry, 2013/10/22, (2013) Read More / View Supplemental Materials
Mutations in eIF4ENIF1 Are Associated With Primary Ovarian Insufficiency.Kasippillai, T., Macarthur DG, Kirby A., Thomas B., Lambalk CB, Daly M. J., and Welt CK The Journal of clinical endocrinology and metabolism, 2013/07/31, (2013) Read More / View Supplemental Materials
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Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.Lim, ET, Raychaudhuri S., Sanders SJ, Stevens C., Sabo A., Macarthur DG, Neale BM, Kirby A., Ruderfer DM, Fromer M., Lek M., Liu L., Flannick J., Ripke S., Nagaswamy U., Muzny D., Reid JG, Hawes A., Newsham I., Wu Y., et al. Neuron, 2013/01/23, Volume 77, Issue 2, p.235-42, (2013) Read More / View Supplemental Materials
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2012
The uncertain road towards genomic medicine.Macarthur, DG, and Lek M. Trends in genetics : TIG, 2012/07/01, Volume 28, Issue 7, p.303-5, (2012) Read More / View Supplemental Materials
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  • Showing 1-30 of 30 Results