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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.SIGMA Type 2 Diabetes, Consortium, 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
Abstract
2013
Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico.The SIGMA Type 2 Diabetes, Consortium, team Writing, Williams AL, Jacobs SB, Moreno-Macías H., Huerta-Chagoya A., Churchhouse C., Márquez-Luna C., García-Ortíz H., José Gómez-Vázquez M., Burtt NP, Aguilar-Salinas CA, González-Villalpando C., Florez JC, Orozco L., Haiman CA, Tusié-Luna T., Altshuler D., team Analysis, Williams AL, et al. Nature, 2013/12/25, (2013) Read More / View Supplemental Materials
Abstract
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
Abstract
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
Abstract
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
Abstract
  • Showing 1-12 of 12 Results