Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 139


Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population.

Nakka P, Pattillo Smith S, O'Donnell-Luria AH, McManus KF; 23andMe Research Team, Mountain JL, Ramachandran S, Sathirapongsasuti JF.

Am J Hum Genet. 2019 Nov 7;105(5):921-932. doi: 10.1016/j.ajhg.2019.09.016. Epub 2019 Oct 10.


Measuring peripheral nerve involvement in Friedreich's ataxia.

Creigh PD, Mountain J, Sowden JE, Eichinger K, Ravina B, Larkindale J, Herrmann DN.

Ann Clin Transl Neurol. 2019 Sep;6(9):1718-1727. doi: 10.1002/acn3.50865. Epub 2019 Aug 15.


Improvement in Psychosocial Outcomes in Children with Type 1 Diabetes and Their Parents Following Subsidy for Continuous Glucose Monitoring.

Burckhardt MA, Abraham MB, Mountain J, Coenen D, Paniora J, Clapin H, Jones TW, Davis EA.

Diabetes Technol Ther. 2019 Oct;21(10):575-580. doi: 10.1089/dia.2019.0149. Epub 2019 Aug 22.


Diversity of KIR, HLA Class I, and Their Interactions in Seven Populations of Sub-Saharan Africans.

Nemat-Gorgani N, Guethlein LA, Henn BM, Norberg SJ, Chiaroni J, Sikora M, Quintana-Murci L, Mountain JL, Norman PJ, Parham P.

J Immunol. 2019 May 1;202(9):2636-2647. doi: 10.4049/jimmunol.1801586. Epub 2019 Mar 27.


The Charcot-Marie-Tooth Functional Outcome Measure (CMT-FOM).

Eichinger K, Burns J, Cornett K, Bacon C, Shepherd ML, Mountain J, Sowden J, Shy R, Shy ME, Herrmann DN.

Neurology. 2018 Oct 9;91(15):e1381-e1384. doi: 10.1212/WNL.0000000000006323. Epub 2018 Sep 19.


Potential for noninvasive assessment of lung inhomogeneity using highly precise, highly time-resolved measurements of gas exchange.

Mountain JE, Santer P, O'Neill DP, Smith NMJ, Ciaffoni L, Couper JH, Ritchie GAD, Hancock G, Whiteley JP, Robbins PA.

J Appl Physiol (1985). 2018 Mar 1;124(3):615-631. doi: 10.1152/japplphysiol.00745.2017. Epub 2017 Oct 26.


Tracking of vitamin D status from childhood to early adulthood and its association with peak bone mass.

Zhu K, Oddy WH, Holt P, Ping-Delfos WCS, Mountain J, Lye S, Pennell C, Hart PH, Walsh JP.

Am J Clin Nutr. 2017 Jul;106(1):276-283. doi: 10.3945/ajcn.116.150524. Epub 2017 Jun 7.


Cohort Profile: The Western Australian Pregnancy Cohort (Raine) Study-Generation 2.

Straker L, Mountain J, Jacques A, White S, Smith A, Landau L, Stanley F, Newnham J, Pennell C, Eastwood P.

Int J Epidemiol. 2017 Oct 1;46(5):1384-1385j. doi: 10.1093/ije/dyw308. No abstract available.


Correction: Dual Energy X-Ray Absorptiometry Compared with Anthropometry in Relation to Cardio-Metabolic Risk Factors in a Young Adult Population: Is the 'Gold Standard' Tarnished?

Demmer DL, Beilin LJ, Hands B, Burrows S, Cox KL, Pennell CE, Lye SJ, Mountain JA, Mori TA.

PLoS One. 2016 Dec 20;11(12):e0168961. doi: 10.1371/journal.pone.0168961. eCollection 2016.


Depressive symptoms, body composition and bone mass in young adults: a prospective cohort study.

Zhu K, Allen K, Mountain J, Lye S, Pennell C, Walsh JP.

Int J Obes (Lond). 2017 Apr;41(4):576-581. doi: 10.1038/ijo.2016.214. Epub 2016 Nov 24.


Parental pre-pregnancy BMI is a dominant early-life risk factor influencing BMI of offspring in adulthood.

Rath SR, Marsh JA, Newnham JP, Zhu K, Atkinson HC, Mountain J, Oddy WH, Hughes IP, Harris M, Leong GM, Cotterill AM, Sly PD, Pennell CE, Choong CS.

Obes Sci Pract. 2016 Mar;2(1):48-57. Epub 2016 Feb 19.


Dual Energy X-Ray Absorptiometry Compared with Anthropometry in Relation to Cardio-Metabolic Risk Factors in a Young Adult Population: Is the 'Gold Standard' Tarnished?

Demmer DL, Beilin LJ, Hands B, Burrows S, Pennell CE, Lye SJ, Mountain JA, Mori TA.

PLoS One. 2016 Sep 13;11(9):e0162164. doi: 10.1371/journal.pone.0162164. eCollection 2016. Erratum in: PLoS One. 2016 Dec 20;11(12 ):e0168961.


Data linkage in an established longitudinal cohort: the Western Australian Pregnancy Cohort (Raine) Study.

Mountain JA, Nyaradi A, Oddy WH, Glauert RA, de Klerk NH, Straker LM, Stanley FJ.

Public Health Res Pract. 2016 Jul 15;26(3). pii: 2631636. doi: 10.17061/phrp2631636.


Rydel-Seiffer fork revisited: Beyond a simple case of black and white.

Panosyan FB, Mountain JM, Reilly MM, Shy ME, Herrmann DN.

Neurology. 2016 Aug 16;87(7):738-40. doi: 10.1212/WNL.0000000000002991. Epub 2016 Jul 13. No abstract available.


Longitudinal Trajectories of Television Watching Across Childhood and Adolescence Predict Bone Mass at Age 20 Years in the Raine Study.

McVeigh JA, Zhu K, Mountain J, Pennell CE, Lye SJ, Walsh JP, Straker LM.

J Bone Miner Res. 2016 Nov;31(11):2032-2040. doi: 10.1002/jbmr.2890. Epub 2016 Jul 4.


Germ line variants predispose to both JAK2 V617F clonal hematopoiesis and myeloproliferative neoplasms.

Hinds DA, Barnholt KE, Mesa RA, Kiefer AK, Do CB, Eriksson N, Mountain JL, Francke U, Tung JY, Nguyen HM, Zhang H, Gojenola L, Zehnder JL, Gotlib J.

Blood. 2016 Aug 25;128(8):1121-8. doi: 10.1182/blood-2015-06-652941. Epub 2016 Jun 30.


Associations between hypothalamic-pituitary-adrenal axis function and peak bone mass at 20years of age in a birth cohort.

Zhu K, Henley D, Pennell C, Herbison CE, Mountain J, Lye S, Walsh JP.

Bone. 2016 Apr;85:37-44. doi: 10.1016/j.bone.2016.01.016. Epub 2016 Jan 21.


The impact of direct-to-consumer personal genomic testing on perceived risk of breast, prostate, colorectal, and lung cancer: findings from the PGen study.

Carere DA, VanderWeele T, Moreno TA, Mountain JL, Roberts JS, Kraft P, Green RC; PGen Study Group.

BMC Med Genomics. 2015 Oct 15;8:63. doi: 10.1186/s12920-015-0140-y.


Identification of a dietary pattern prospectively associated with bone mass in Australian young adults.

van den Hooven EH, Ambrosini GL, Huang RC, Mountain J, Straker L, Walsh JP, Zhu K, Oddy WH.

Am J Clin Nutr. 2015 Nov;102(5):1035-43. doi: 10.3945/ajcn.115.110502. Epub 2015 Sep 16.


Explaining, not just predicting, drives interest in personal genomics.

Meisel SF, Carere DA, Wardle J, Kalia SS, Moreno TA, Mountain JL, Roberts JS, Green RC; PGen Study Group.

Genome Med. 2015 Aug 1;7(1):74. doi: 10.1186/s13073-015-0188-5. eCollection 2015.


Heightened cold pain and pressure pain sensitivity in young female adults with moderate-to-severe menstrual pain.

Slater H, Paananen M, Smith AJ, OʼSullivan P, Briggs AM, Hickey M, Mountain J, Karppinen J, Beales D.

Pain. 2015 Dec;156(12):2468-78. doi: 10.1097/j.pain.0000000000000317.


Rationale, design and methods for the 22 year follow-up of the Western Australian Pregnancy Cohort (Raine) Study.

Straker LM, Hall GL, Mountain J, Howie EK, White E, McArdle N, Eastwood PR; Raine Study 22 Year Follow-Up Investigator Group.

BMC Public Health. 2015 Jul 14;15:663. doi: 10.1186/s12889-015-1944-6.


How Well Do Customers of Direct-to-Consumer Personal Genomic Testing Services Comprehend Genetic Test Results? Findings from the Impact of Personal Genomics Study.

Ostergren JE, Gornick MC, Carere DA, Kalia SS, Uhlmann WR, Ruffin MT, Mountain JL, Green RC, Roberts JS; PGen Study Group.

Public Health Genomics. 2015;18(4):216-24. doi: 10.1159/000431250. Epub 2015 Jun 16.


ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.

Springelkamp H, Iglesias AI, Cuellar-Partida G, Amin N, Burdon KP, van Leeuwen EM, Gharahkhani P, Mishra A, van der Lee SJ, Hewitt AW, Rivadeneira F, Viswanathan AC, Wolfs RC, Martin NG, Ramdas WD, van Koolwijk LM, Pennell CE, Vingerling JR, Mountain JE, Uitterlinden AG, Hofman A, Mitchell P, Lemij HG, Wang JJ, Klaver CC, Mackey DA, Craig JE, van Duijn CM, MacGregor S.

Hum Mol Genet. 2015 May 1;24(9):2689-99. doi: 10.1093/hmg/ddv027. Epub 2015 Jan 30.


Genetic and environmental factors in conjunctival UV autofluorescence.

Yazar S, Cuellar-Partida G, McKnight CM, Quach-Thanissorn P, Mountain JA, Coroneo MT, Pennell CE, Hewitt AW, MacGregor S, Mackey DA.

JAMA Ophthalmol. 2015 Apr;133(4):406-12. doi: 10.1001/jamaophthalmol.2014.5627.


The genetic ancestry of African Americans, Latinos, and European Americans across the United States.

Bryc K, Durand EY, Macpherson JM, Reich D, Mountain JL.

Am J Hum Genet. 2015 Jan 8;96(1):37-53. doi: 10.1016/j.ajhg.2014.11.010. Epub 2014 Dec 18.


Vitamin D in fetal development: findings from a birth cohort study.

Hart PH, Lucas RM, Walsh JP, Zosky GR, Whitehouse AJ, Zhu K, Allen KL, Kusel MM, Anderson D, Mountain JA.

Pediatrics. 2015 Jan;135(1):e167-73. doi: 10.1542/peds.2014-1860. Epub 2014 Dec 15.


Design, methods, and participant characteristics of the Impact of Personal Genomics (PGen) Study, a prospective cohort study of direct-to-consumer personal genomic testing customers.

Carere DA, Couper MP, Crawford SD, Kalia SS, Duggan JR, Moreno TA, Mountain JL, Roberts JS, Green RC; PGen Study Group.

Genome Med. 2014 Dec 3;6(12):96. doi: 10.1186/s13073-014-0096-0. eCollection 2014.


Replicability and robustness of genome-wide-association studies for behavioral traits.

Rietveld CA, Conley D, Eriksson N, Esko T, Medland SE, Vinkhuyzen AA, Yang J, Boardman JD, Chabris CF, Dawes CT, Domingue BW, Hinds DA, Johannesson M, Kiefer AK, Laibson D, Magnusson PK, Mountain JL, Oskarsson S, Rostapshova O, Teumer A, Tung JY, Visscher PM, Benjamin DJ, Cesarini D, Koellinger PD; Social Science Genetics Association Consortium.

Psychol Sci. 2014 Nov;25(11):1975-86. doi: 10.1177/0956797614545132. Epub 2014 Oct 6.


Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.

Springelkamp H, Höhn R, Mishra A, Hysi PG, Khor CC, Loomis SJ, Bailey JN, Gibson J, Thorleifsson G, Janssen SF, Luo X, Ramdas WD, Vithana E, Nongpiur ME, Montgomery GW, Xu L, Mountain JE, Gharahkhani P, Lu Y, Amin N, Karssen LC, Sim KS, van Leeuwen EM, Iglesias AI, Verhoeven VJ, Hauser MA, Loon SC, Despriet DD, Nag A, Venturini C, Sanfilippo PG, Schillert A, Kang JH, Landers J, Jonasson F, Cree AJ, van Koolwijk LM, Rivadeneira F, Souzeau E, Jonsson V, Menon G; Blue Mountains Eye Study—GWAS group, Weinreb RN, de Jong PT, Oostra BA, Uitterlinden AG, Hofman A, Ennis S, Thorsteinsdottir U, Burdon KP; NEIGHBORHOOD Consortium; Wellcome Trust Case Control Consortium 2 (WTCCC2), Spector TD, Mirshahi A, Saw SM, Vingerling JR, Teo YY, Haines JL, Wolfs RC, Lemij HG, Tai ES, Jansonius NM, Jonas JB, Cheng CY, Aung T, Viswanathan AC, Klaver CC, Craig JE, Macgregor S, Mackey DA, Lotery AJ, Stefansson K, Bergen AA, Young TL, Wiggs JL, Pfeiffer N, Wong TY, Pasquale LR, Hewitt AW, van Duijn CM, Hammond CJ.

Nat Commun. 2014 Sep 22;5:4883. doi: 10.1038/ncomms5883.


Ancient human genomes suggest three ancestral populations for present-day Europeans.

Lazaridis I, Patterson N, Mittnik A, Renaud G, Mallick S, Kirsanow K, Sudmant PH, Schraiber JG, Castellano S, Lipson M, Berger B, Economou C, Bollongino R, Fu Q, Bos KI, Nordenfelt S, Li H, de Filippo C, Prüfer K, Sawyer S, Posth C, Haak W, Hallgren F, Fornander E, Rohland N, Delsate D, Francken M, Guinet JM, Wahl J, Ayodo G, Babiker HA, Bailliet G, Balanovska E, Balanovsky O, Barrantes R, Bedoya G, Ben-Ami H, Bene J, Berrada F, Bravi CM, Brisighelli F, Busby GB, Cali F, Churnosov M, Cole DE, Corach D, Damba L, van Driem G, Dryomov S, Dugoujon JM, Fedorova SA, Gallego Romero I, Gubina M, Hammer M, Henn BM, Hervig T, Hodoglugil U, Jha AR, Karachanak-Yankova S, Khusainova R, Khusnutdinova E, Kittles R, Kivisild T, Klitz W, Kučinskas V, Kushniarevich A, Laredj L, Litvinov S, Loukidis T, Mahley RW, Melegh B, Metspalu E, Molina J, Mountain J, Näkkäläjärvi K, Nesheva D, Nyambo T, Osipova L, Parik J, Platonov F, Posukh O, Romano V, Rothhammer F, Rudan I, Ruizbakiev R, Sahakyan H, Sajantila A, Salas A, Starikovskaya EB, Tarekegn A, Toncheva D, Turdikulova S, Uktveryte I, Utevska O, Vasquez R, Villena M, Voevoda M, Winkler CA, Yepiskoposyan L, Zalloua P, Zemunik T, Cooper A, Capelli C, Thomas MG, Ruiz-Linares A, Tishkoff SA, Singh L, Thangaraj K, Villems R, Comas D, Sukernik R, Metspalu M, Meyer M, Eichler EE, Burger J, Slatkin M, Pääbo S, Kelso J, Reich D, Krause J.

Nature. 2014 Sep 18;513(7518):409-13. doi: 10.1038/nature13673.


Myopia is associated with lower vitamin D status in young adults.

Yazar S, Hewitt AW, Black LJ, McKnight CM, Mountain JA, Sherwin JC, Oddy WH, Coroneo MT, Lucas RM, Mackey DA.

Invest Ophthalmol Vis Sci. 2014 Jun 26;55(7):4552-9. doi: 10.1167/iovs.14-14589.


Multiple prenatal ultrasound scans and ocular development: 20-year follow-up of a randomized controlled trial.

Forward H, Yazar S, Hewitt AW, Khan J, Mountain JA, Pesudovs K, McKnight CM, Tan AX, Pennell CE, Mackey DA, Newnham JP.

Ultrasound Obstet Gynecol. 2014 Aug;44(2):166-70. doi: 10.1002/uog.13399.


Gender differences in the relationships between lean body mass, fat mass and peak bone mass in young adults.

Zhu K, Briffa K, Smith A, Mountain J, Briggs AM, Lye S, Pennell C, Straker L, Walsh JP.

Osteoporos Int. 2014 May;25(5):1563-70. doi: 10.1007/s00198-014-2665-x. Epub 2014 Mar 20.


Comparison of monochromatic aberrations in young adults with different visual acuity and refractive errors.

Yazar S, Hewitt AW, Forward H, McKnight CM, Tan A, Mountain JA, Mackey DA.

J Cataract Refract Surg. 2014 Mar;40(3):441-9. doi: 10.1016/j.jcrs.2013.07.055. Epub 2014 Jan 11.


Maternal vitamin D status during pregnancy and bone mass in offspring at 20 years of age: a prospective cohort study.

Zhu K, Whitehouse AJ, Hart PH, Kusel M, Mountain J, Lye S, Pennell C, Walsh JP.

J Bone Miner Res. 2014;29(5):1088-95. doi: 10.1002/jbmr.2138.


A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.

Hinds DA, McMahon G, Kiefer AK, Do CB, Eriksson N, Evans DM, St Pourcain B, Ring SM, Mountain JL, Francke U, Davey-Smith G, Timpson NJ, Tung JY.

Nat Genet. 2013 Aug;45(8):907-11. doi: 10.1038/ng.2686. Epub 2013 Jun 30.


Interrogation of the platelet-derived growth factor receptor alpha locus and corneal astigmatism in Australians of Northern European ancestry: results of a genome-wide association study.

Yazar S, Mishra A, Ang W, Kearns LS, Mountain JA, Pennell C, Montgomery GW, Young TL, Hammond CJ, Macgregor S, Mackey DA, Hewitt AW.

Mol Vis. 2013 Jun 6;19:1238-46. Print 2013.


Dealing with the unexpected: consumer responses to direct-access BRCA mutation testing.

Francke U, Dijamco C, Kiefer AK, Eriksson N, Moiseff B, Tung JY, Mountain JL.

PeerJ. 2013 Feb 12;1:e8. doi: 10.7717/peerj.8. Print 2013.


Genome-wide analysis points to roles for extracellular matrix remodeling, the visual cycle, and neuronal development in myopia.

Kiefer AK, Tung JY, Do CB, Hinds DA, Mountain JL, Francke U, Eriksson N.

PLoS Genet. 2013;9(2):e1003299. doi: 10.1371/journal.pgen.1003299. Epub 2013 Feb 28.


A geometric morphometric assessment of hand shape and comparison to the 2D:4D digit ratio as a marker of sexual dimorphism.

Sanfilippo PG, Hewitt AW, Mountain JA, Mackey DA.

Twin Res Hum Genet. 2013 Apr;16(2):590-600. doi: 10.1017/thg.2013.5. Epub 2013 Feb 27.


Raine eye health study: design, methodology and baseline prevalence of ophthalmic disease in a birth-cohort study of young adults.

Yazar S, Forward H, McKnight CM, Tan A, Soloshenko A, Oates SK, Ang W, Sherwin JC, Wood D, Mountain JA, Pennell CE, Hewitt AW, Mackey DA.

Ophthalmic Genet. 2013 Dec;34(4):199-208. doi: 10.3109/13816810.2012.755632. Epub 2013 Jan 10.


Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.

Lu Y, Vitart V, Burdon KP, Khor CC, Bykhovskaya Y, Mirshahi A, Hewitt AW, Koehn D, Hysi PG, Ramdas WD, Zeller T, Vithana EN, Cornes BK, Tay WT, Tai ES, Cheng CY, Liu J, Foo JN, Saw SM, Thorleifsson G, Stefansson K, Dimasi DP, Mills RA, Mountain J, Ang W, Hoehn R, Verhoeven VJ, Grus F, Wolfs R, Castagne R, Lackner KJ, Springelkamp H, Yang J, Jonasson F, Leung DY, Chen LJ, Tham CC, Rudan I, Vatavuk Z, Hayward C, Gibson J, Cree AJ, MacLeod A, Ennis S, Polasek O, Campbell H, Wilson JF, Viswanathan AC, Fleck B, Li X, Siscovick D, Taylor KD, Rotter JI, Yazar S, Ulmer M, Li J, Yaspan BL, Ozel AB, Richards JE, Moroi SE, Haines JL, Kang JH, Pasquale LR, Allingham RR, Ashley-Koch A; NEIGHBOR Consortium, Mitchell P, Wang JJ, Wright AF, Pennell C, Spector TD, Young TL, Klaver CC, Martin NG, Montgomery GW, Anderson MG, Aung T, Willoughby CE, Wiggs JL, Pang CP, Thorsteinsdottir U, Lotery AJ, Hammond CJ, van Duijn CM, Hauser MA, Rabinowitz YS, Pfeiffer N, Mackey DA, Craig JE, Macgregor S, Wong TY.

Nat Genet. 2013 Feb;45(2):155-63. doi: 10.1038/ng.2506. Epub 2013 Jan 6.


Birth of a cohort--the first 20 years of the Raine study.

McKnight CM, Newnham JP, Stanley FJ, Mountain JA, Landau LI, Beilin LJ, Puddey IB, Pennell CE, Mackey DA.

Med J Aust. 2012 Dec 10;197(11):608-10. No abstract available.


The genetic prehistory of southern Africa.

Pickrell JK, Patterson N, Barbieri C, Berthold F, Gerlach L, Güldemann T, Kure B, Mpoloka SW, Nakagawa H, Naumann C, Lipson M, Loh PR, Lachance J, Mountain J, Bustamante CD, Berger B, Tishkoff SA, Henn BM, Stoneking M, Reich D, Pakendorf B.

Nat Commun. 2012;3:1143. doi: 10.1038/ncomms2140.


Peer review versus editorial review and their role in innovative science.

Steinhauser G, Adlassnig W, Risch JA, Anderlini S, Arguriou P, Armendariz AZ, Bains W, Baker C, Barnes M, Barnett J, Baumgartner M, Baumgartner T, Bendall CA, Bender YS, Bichler M, Biermann T, Bini R, Blanco E, Bleau J, Brink A, Brown D, Burghuber C, Calne R, Carter B, Castaño C, Celec P, Celis ME, Clarke N, Cockrell D, Collins D, Coogan B, Craig J, Crilly C, Crowe D, Csoka AB, Darwich C, Del Kebos T, Derinaldi M, Dlamini B, Drewa T, Dwyer M, Eder F, de Palma RE, Esmay D, Rött CE, Exley C, Falkov R, Farber CI, Fearn W, Felsmann S, Flensmark J, Fletcher AK, Foster M, Fountoulakis KN, Fouratt J, Blanca JG, Sotelo MG, Gittler F, Gittler G, Gomez J, Gomez JF, Polar MG, Gonzalez J, Gösselsberger C, Habermacher L, Hajek M, Hakala F, Haliburton MS, Hankins JR, Hart J, Hasslberger S, Hennessey D, Herrmann A, Hersee M, Howard C, Humphries S, Isharc L, Ivanovski P, Jenuth S, Jerndal J, Johnson C, Keleta Y, Kenny A, Kidd B, Kohle F, Kolahi J, Koller-Peroutka M, Kostova L, Kumar A, Kurosawa A, Lance T, Lechermann M, Lendl B, Leuchters M, Lewis E, Lieb E, Lloyd G, Losek A, Lu Y, Maestracci S, Mangan D, Mares AW, Barnett JM, McClain V, McNair JS, Michael T, Miller L, Monzani P, Moran B, Morris M, Mößmer G, Mountain J, Phuthe OM, Muñoz M, Nakken S, Wambui AN, Neunteufl B, Nikolić D, Oberoi DV, Obmode G, Ogar L, Ohara J, Rybine NO, Owen B, Owen KW, Parikh R, Pearce NJ, Pemmer B, Piper C, Prince I, Reid T, Rindermann H, Risch S, Robbins J, Roberts S, Romero A, Rothe MT, Ruiz S, Sacher J, Sackl W, Salletmaier M, Sanand J, Sauerzopf C, Schwarzgruber T, Scott D, Seegers L, Seppi D, Shields K, Siller-Matula J, Singh B, Sithole S, Six F, Skoyles JR, Slofstra J, Sole DA, Sommer WF, Sonko M, Starr-Casanova CJ, Steakley ME, Steinhauser W, Steinhoff K, Sterba JH, Steppan M, Stindl R, Stokely J, Stokely K, St-Pierre G, Stratford J, Streli C, Stryg C, Sullivan M, Summhammer J, Tadesse A, Tavares D, Thompson L, Tomlinson A, Tozer J, Trevisanato SI, Trimmel M, Turner N, Vahur P, van der Byl J, van der Maas T, Varela L, Vega CA, Vermaak S, Villasenor A, Vogel M, von Wintzigerode G, Wagner C, Weinberger M, Weinberger P, Wilson N, Wolfe JF, Woodley MA, Young I, Zuraw G, Zwiren N.

Theor Med Bioeth. 2012 Oct;33(5):359-76. doi: 10.1007/s11017-012-9233-1.


Genetic variants near PDGFRA are associated with corneal curvature in Australians.

Mishra A, Yazar S, Hewitt AW, Mountain JA, Ang W, Pennell CE, Martin NG, Montgomery GW, Hammond CJ, Young TL, Macgregor S, Mackey DA.

Invest Ophthalmol Vis Sci. 2012 Oct 11;53(11):7131-6. doi: 10.1167/iovs.12-10489.


Genetic variants associated with breast size also influence breast cancer risk.

Eriksson N, Benton GM, Do CB, Kiefer AK, Mountain JL, Hinds DA, Francke U, Tung JY.

BMC Med Genet. 2012 Jun 30;13:53. doi: 10.1186/1471-2350-13-53.


Cryptic distant relatives are common in both isolated and cosmopolitan genetic samples.

Henn BM, Hon L, Macpherson JM, Eriksson N, Saxonov S, Pe'er I, Mountain JL.

PLoS One. 2012;7(4):e34267. doi: 10.1371/journal.pone.0034267. Epub 2012 Apr 3.


Novel associations for hypothyroidism include known autoimmune risk loci.

Eriksson N, Tung JY, Kiefer AK, Hinds DA, Francke U, Mountain JL, Do CB.

PLoS One. 2012;7(4):e34442. doi: 10.1371/journal.pone.0034442. Epub 2012 Apr 6.

Supplemental Content

Loading ...
Support Center