• The University of Western Australia (M503), 35 Stirling Highway,

    6009 Perth

    Australia

  • 6063 Citations
  • 38 h-Index
1986 …2019
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Research Output 1986 2019

  • 6063 Citations
  • 38 h-Index
  • 91 Article
  • 35 Abstract
  • 1 Book
  • 1 Literature review
2019
4 Citations (Scopus)

GARFIELD classifies disease-relevant genomic features through integration of functional annotations with association signals

UK10K Consortium & Wilson, S., Feb 2019, In : Nature Genetics. 51, 2, p. 343-+ 13 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)
Open Access
Osteitis Deformans
Osteoclasts
Quantitative Trait Loci
Genome-Wide Association Study
Genes
6 Citations (Scopus)

Identification of Novel Loci Associated With Hip Shape: A Meta-Analysis of Genomewide Association Studies

Baird, D. A., Evans, D. S., Kamanu, F. K., Gregory, J. S., Saunders, F. R., Giuraniuc, C. V., Barr, R. J., Aspden, R. M., Jenkins, D., Kiel, D. P., Orwoll, E. S., Cummings, S. R., Lane, N. E., Mullin, B. H., Williams, F. M., Richards, J. B., Wilson, S. G., Spector, T. D., Faber, B. G., Lawlor, D. A. & 10 othersGrundberg, E., Ohlsson, C., Pettersson-Kymmer, U., Capellini, T. D., Richard, D., Beck, T. J., Evans, D. M., Paternoster, L., Karasik, D. & Tobias, J. H., Feb 2019, In : Journal of Bone & Mineral Research. 34, 2, p. 241-251 11 p.

Research output: Contribution to journalArticle

Open Access
Meta-Analysis
Hip
Hip Osteoarthritis
Osteoporotic Fractures
Photon Absorptiometry

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

UK10K Consortium, 21 Jan 2019, In : Nature Communications. 10, 1, 16 p., 357.

Research output: Contribution to journalArticle

Open Access
circumferences
Head
low frequencies
Genetic Models
Human Development

Meta-analysis of genomewide association studies reveals genetic variants for hip bone geometry

Hsu, Y. H., Estrada, K., Evangelou, E., Ackert-Bicknell, C., Akesson, K., Beck, T., Brown, S. J., Capellini, T., Carbone, L., Cauley, J., Cheung, C. L., Cummings, S. R., Czerwinski, S., Demissie, S., Econs, M., Evans, D., Farber, C., Gautvik, K., Harris, T., Kammerer, C. & 32 othersKemp, J., Koller, D. L., Kung, A., Lawlor, D., Lee, M., Lorentzon, M., McGuigan, F., Medina-Gomez, C., Mitchell, B., Newman, A., Nielson, C., Ohlsson, C., Peacock, M., Reppe, S., Richards, J. B., Robbins, J., Sigurdsson, G., Spector, T. D., Stefansson, K., Streeten, E., Styrkarsdottir, U., Tobias, J., Trajanoska, K., Uitterlinden, A., Vandenput, L., Wilson, S. G., Yerges-Armstrong, L., Young, M., Zillikens, C., Rivadeneira, F., Kiel, D. P. & Karasik, D., 19 Mar 2019, In : Journal of Bone & Mineral Research. 13 p., e3698.

Research output: Contribution to journalArticle

Pelvic Bones
Genetic Association Studies
Meta-Analysis
Hip
Femur Neck

Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis

UK10K Consortium, 12 Apr 2019, In : Nature Communications. 10, 14 p., 1718.

Research output: Contribution to journalArticle

Open Access
2018
3 Citations (Scopus)
80 Downloads (Pure)

Expression quantitative trait locus study of bone mineral density GWAS variants in human osteoclasts

Mullin, B. H., Zhu, K., Xu, J., Brown, S. J., Mullin, S., Tickner, J., Pavlos, N. J., Dudbridge, F., Walsh, J. P. & Wilson, S. G., Jun 2018, In : Journal of Bone & Mineral Research. 33, 6, p. 1044-1051

Research output: Contribution to journalArticle

Open Access
File
Quantitative Trait Loci
Genome-Wide Association Study
Osteoclasts
Bone Density
Single Nucleotide Polymorphism
3 Citations (Scopus)

Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation

LifeLines Cohort Study, 1 Dec 2018, In : Nature Communications. 9, 1, 4455.

Research output: Contribution to journalArticle

Open Access
hormones
genome
Thyroid Hormones
Genes
Thyroid Diseases
1 Citation (Scopus)

How many cases of disease in a pedigree imply familial disease?

Dudbridge, F., Brown, S. J., Ward, L., Wilson, S. G. & Walsh, J. P., 1 Mar 2018, In : Annals of Human Genetics. 82, 2, p. 109-113 5 p.

Research output: Contribution to journalArticle

Open Access
Pedigree
Rare Diseases
Exome
Thyroid Neoplasms
Colorectal Neoplasms
5 Citations (Scopus)

Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria

the 23andMe Research Team, 1 Dec 2018, In : PLoS Genetics. 14, 12, e1007813.

Research output: Contribution to journalArticle

Open Access
polycystic ovary syndrome
Polycystic Ovary Syndrome
meta-analysis
Meta-Analysis
genome
24 Citations (Scopus)

Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects

Medina-Gomez, C., Kemp, J. P., Trajanoska, K., Luan, J., Chesi, A., Ahluwalia, T. S., Mook-Kanamori, D. O., Ham, A., Hartwig, F. P., Evans, D. S., Joro, R., Nedeljkovic, I., Zheng, H. F., Zhu, K., Atalay, M., Liu, C. T., Nethander, M., Broer, L., Porleifsson, G., Mullin, B. H. & 69 othersHandelman, S. K., Nalls, M. A., Jessen, L. E., Heppe, D. H. M., Richards, J. B., Wang, C., Chawes, B., Schraut, K. E., Amin, N., Wareham, N., Karasik, D., Van der Velde, N., Ikram, M. A., Zemel, B. S., Zhou, Y., Carlsson, C. J., Liu, Y., McGuigan, F. E., Boer, C. G., Bønnelykke, K., Ralston, S. H., Robbins, J. A., Walsh, J. P., Zillikens, M. C., Langenberg, C., Li-Gao, R., Williams, F. M. K., Harris, T. B., Akesson, K., Jackson, R. D., Sigurdsson, G., den Heijer, M., van der Eerden, B. C. J., van de Peppel, J., Spector, T. D., Pennell, C., Horta, B. L., Felix, J. F., Zhao, J. H., Wilson, S. G., de Mutsert, R., Bisgaard, H., Styrkársdóttir, U., Jaddoe, V. W., Orwoll, E., Lakka, T. A., Scott, R., Grant, S. F. A., Lorentzon, M., van Duijn, C. M., Wilson, J. F., Stefansson, K., Psaty, B. M., Kiel, D. P., Ohlsson, C., Ntzani, E., van Wijnen, A. J., Forgetta, V., Ghanbari, M., Logan, J. G., Williams, G. R., Bassett, J. H. D., Croucher, P. I., Evangelou, E., Uitterlinden, A. G., Ackert-Bicknell, C. L., Tobias, J. H., Evans, D. M. & Rivadeneira, F., 4 Jan 2018, In : American Journal of Human Genetics. 102, 1, p. 88-102 15 p.

Research output: Contribution to journalArticle

Genome-Wide Association Study
Bone Density
Meta-Analysis
Osteoporosis
Bone and Bones
2017
8 Citations (Scopus)

Genome-wide association study meta-analysis for quantitative ultrasound parameters of bone identifies five novel loci for broadband ultrasound attenuation

Mullin, B. H., Hua Zhao, J., Brown, S., Perry, J. R. B., Luan, JA., Zheng, H-F., Langenberg, C., Dudbridge, F., Scott, R. A., Wareham, N. J., Spector, T. D., Brent Richards, J., Walsh, J. P. & Wilson, S. G., 15 Jul 2017, In : Human Molecular Genetics. 26, 14, p. 2791-2802

Research output: Contribution to journalArticle

Genome-Wide Association Study
Meta-Analysis
Genome
Bone and Bones
Genetic Loci
12 Citations (Scopus)

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

Hendricks, A. E., Bochukova, E. G., Marenne, G., Keogh, J. M., Atanassova, N., Bounds, R., Wheeler, E., Mistry, V., Henning, E., Körner, A., Muddyman, D., McCarthy, S., Hinney, A., Hebebrand, J., Scott, R. A., Langenberg, C., Wareham, N. J., Surendran, P., Howson, J. M. M., Butterworth, A. S. & 250 othersDanesh, J., Nordestgaard, B. G., Nielsen, S. F., Afzal, S., Papadia, S., Ashford, S., Garg, S., Millhauser, G. L., Palomino, R. I., Kwasniewska, A., Tachmazidou, I., O'Rahilly, S., Zeggini, E., Barroso, I., Farooqi, I. S., Benzeval, M., Burton, J., Buck, N., Jäckle, A., Kumari, M., Laurie, H., Lynn, P., Pudney, S., Rabe, B., Wolke, D., Overvad, K., Tjønneland, A., Clavel-Chapelon, F., Kaaks, R., Boeing, H., Trichopoulou, A., Ferrari, P., Palli, D., Krogha, V., Panico, S., Tuminoa, R., Matullo, G., Boer, J., Van Der Schouw, Y. T., Weiderpass, E., Quiros, J. R., Sánchez, M. J., Navarro, C., Moreno-Iribas, C., Arriola, L., Melander, O., Wennberg, P., Key, T. J., Riboli, E., Turki, S. A., Anderson, C. A., Anney, R., Antony, D., Soler Artigas, M., Ayub, M., Bala, S., Barrett, J. C., Beales, P., Bentham, J., Bhattacharyaa, S., Birney, E., Blackwooda, D., Bobrow, M., Bolton, P. F., Boustred, C., Breen, G., Calissanoa, M., Carss, K., Charlton, R., Chatterjee, K., Chen, L., Ciampia, A., Cirak, S., Clapham, P., Clement, G., Coates, G., Coccaa, M., Collier, D. A., Cosgrove, C., Coxa, T., Craddock, N., Crooks, L., Curran, S., Curtis, D., Daly, A., Danecek, P., Day, I. N. M., Day-Williams, A., Dominiczak, A. F., Down, T., Du, Y., Dunham, I., Durbin, R., Edkins, S., Ekong, R., Ellis, P., Evansa, D. M., Fitzpatrick, D. R., Flicek, P., Floyd, J., Foley, A. R., Franklin, C. S., Futema, M., Gallagher, L., Gaunt, T. R., Geihs, M., Geschwind, D., Greenwood, C. M. T., Griffin, H., Grozeva, D., Guo, X., Guo, X., Gurling, H., Hart, D., Holmans, P. A., Howie, B., Huang, J., Huang, L., Hubbard, T., Humphries, S. E., Hurles, M. E., Hysi, P. G., Iotchkova, V., Jackson, D. K., Jamshidi, Y., Joyce, C., Karczewski, K. J., Kaye, J., Keane, T., Kemp, J. P., Kennedy, K., Kent, A., Khawaja, F., Van Kogelenberg, M., Kolb-Kokocinski, A., Lachance, G., Langford, C., Lawson, D., Lee, I., Lek, M., Li, R., Li, Y., Liang, J., Lin, H., Liu, R., Lönnqvist, J., Lopes, L. R., Lopes, M., MacArthur, D. G., Mangino, M., Marchini, J., Maslen, J., Mathieson, I., McGuffin, P., McIntosh, A. M., McKechanie, A. G., McQuillin, A., Memari, Y., Metrustry, S., Migone, N., Min, J. L., Mitchison, H. M., Moayyeri, A., Morris, A. P., Morris, J., Muntoni, F., Northstone, K., O'Donovan, M. C., Onoufriadis, A., Oualkacha, K., Owen, M. J., Palotie, A., Panoutsopoulou, K., Parker, V., Parr, J. R., Paternoster, L., Paunio, T., Payne, F., Payne, S. J., Perry, J. R. B., Pietilainen, O., Plagnol, V., Pollitt, R. C., Porteous, D. J., Povey, S., Quail, M. A., Quaye, L., Raymond, F. L., Rehnström, K., Richards, J. B., Ridout, C. K., Ring, S. M., Ritchie, G. R. S., Roberts, N., Robinson, R. L., Savage, D. B., Scambler, P., Schiffels, S., Schmidts, M., Schoenmakers, N., Scott, R. H., Semple, R. K., Serra, E., Sharp, S. I., Shaw, A., Shihab, H. A., Shin, S. Y., Skuse, D., Small, K. S., Smee, C., Smith, B. H., Davey Smith, G., Soranzo, N., Southam, L., Spasic-Boskovic, O., Spector, T. D., St Clair, D., St Pourcain, B., Stalker, J., Stevens, E., Sun, J., Surdulescu, G. L., Suvisaari, J., Syrris, P., Taylor, R., Tian, J., Timpson, N. J., Tobin, M. D., Valdes, A. M., Vandersteen, A. M., Vijayarangakannan, P., Visscher, P. M., Wain, L. V., Walter, K., Walters, J. T. R., Wang, G., Wang, J., Wang, Y., Ward, K., Whyte, T., Williams, H. J., Williamson, K. A., Wilson, C., Wilson, S. G., Wong, K., Xu, C., Yang, J., Zhang, H. F., Zhang, P. & Zheng, H-F., 1 Dec 2017, In : Scientific Reports. 7, 1, 4394.

Research output: Contribution to journalArticle

Open Access
Morbid Obesity
Pediatric Obesity
Rodentia
Obesity
Genes
18 Citations (Scopus)

Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits

Tachmazidou, I., Süveges, D., Min, J. L., Ritchie, G. R. S., Steinberg, J., Walter, K., Iotchkova, V., Schwartzentruber, J., Huang, J., Memari, Y., McCarthy, S., Crawford, A. A., Bombieri, C., Cocca, M., Farmaki, A. E., Gaunt, T. R., Jousilahti, P., Kooijman, M. N., Lehne, B., Malerba, G. & 83 othersMännistö, S., Matchan, A., Medina-Gomez, C., Metrustry, S. J., Nag, A., Ntalla, I., Paternoster, L., Rayner, N. W., Sala, C., Scott, W. R., Shihab, H. A., Southam, L., St Pourcain, B., Traglia, M., Trajanoska, K., Zaza, G., Zhang, W., Artigas, M. S., Bansal, N., Benn, M., Chen, Z., Danecek, P., Lin, W. Y., Locke, A., Luan, J., Manning, A. K., Mulas, A., Sidore, C., Tybjaerg-Hansen, A., Varbo, A., Zoledziewska, M., Finan, C., Hatzikotoulas, K., Hendricks, A. E., Kemp, J. P., Moayyeri, A., Panoutsopoulou, K., Szpak, M., Wilson, S. G., Boehnke, M., Cucca, F., Di Angelantonio, E., Langenberg, C., Lindgren, C., McCarthy, M. I., Morris, A. P., Nordestgaard, B. G., Scott, R. A., Tobin, M. D., Wareham, N. J., Burton, P., Chambers, J. C., Smith, G. D., Dedoussis, G., Felix, J. F., Franco, O. H., Gambaro, G., Gasparini, P., Hammond, C. J., Hofman, A., Jaddoe, V. W. V., Kleber, M., Kooner, J. S., Perola, M., Relton, C., Ring, S. M., Rivadeneira, F., Salomaa, V., Spector, T. D., Stegle, O., Toniolo, D., Uitterlinden, A. G., Barroso, I., Greenwood, C. M. T., Perry, J. R. B., Walker, B. R., Butterworth, A. S., Xue, Y., Durbin, R., Small, K. S., Soranzo, N., Timpson, N. J. & Zeggini, E., 1 Jun 2017, In : American Journal of Human Genetics. 100, 6, p. 865-884 20 p.

Research output: Contribution to journalArticle

Open Access
Genome
Multifactorial Inheritance
Body Fat Distribution
High-Throughput Nucleotide Sequencing
Chromosome Mapping
2016
172 Downloads (Pure)

Common genetic variants associated with thyroid function may be risk alleles for Hashimoto's disease and Graves' disease

Campbell, P., Brix, T. H., Wilson, S., Ward, L. C., Hui, J., Beilby, J., Hegedüs, L. & Walsh, J., 27 Feb 2016, In : Clinical Endocrinology. 84, 2, p. 278-283 6 p.

Research output: Contribution to journalArticle

Open Access
File
Hashimoto Disease
Graves Disease
Thyroid Gland
Alleles
Thyroid Diseases
14 Citations (Scopus)
125 Downloads (Pure)

DNA methylation and the social gradient of osteoporotic fracture: A conceptual model

Brennan-Olsen, S. L., Page, R. S., Berk, M., Riancho, J. A., Leslie, W. D., Wilson, S., Saban, K. L., Janusek, L., Pasco, J. A., Hodge, J. M., Quirk, S. E., Hyde, N. K., Hosking, S. M. & Williams, L. J., Mar 2016, In : Bone. 84, p. 204-212 9 p.

Research output: Contribution to journalLiterature review

Open Access
File
Osteoporotic Fractures
DNA Methylation
Epigenomics
Osteoporosis
Vulnerable Populations
1 Citation (Scopus)
11 Downloads (Pure)

Genome-wide association meta-analyses identified 1q43 and 2q32.2 for hip Ward's triangle areal bone mineral density

GEFOS-seq Consortium & Wilson, S., Oct 2016, In : Bone. 91, p. 1-10 10 p.

Research output: Contribution to journalArticle

Open Access
File
Genome-Wide Association Study
Bone Density
Meta-Analysis
Hip
Femur
11 Citations (Scopus)
139 Downloads (Pure)

Genome-wide association study using family-based cohorts identifies the WLS and CCDC170/ESR1 loci as associated with bone mineral density

Mullin, B., Walsh, J., Zheng, H. F., Brown, S. J., Surdulescu, G. L., Curtis, C., Breen, G., Dudbridge, F., Richards, J. B., Spector, T. D. & Wilson, S., 25 Feb 2016, In : BMC Genomics. 17, 1, p. 1-11 11 p., 136.

Research output: Contribution to journalArticle

Open Access
File
Genome-Wide Association Study
Bone Density
Ligands
Genes
Body Size
26 Citations (Scopus)

Genome-wide association study with 1000 genomes imputation identifies signals for nine sex hormone-related phenotypes

Ruth, K. S., Campbell, P. J., Chew, S., Lim, E. M., Hadlow, N., Stuckey, B., Brown, S. J., Feenstra, B., Joseph, J., Surdulescu, G. L., Zheng, H. F., Richards, J. B., Murray, A., Spector, T. D., Wilson, S. & Perry, J. R. B., 2016, In : European Journal of Human Genetics. 24, 2, p. 284-290 7 p.

Research output: Contribution to journalArticle

Open Access
Genome-Wide Association Study
Gonadal Steroid Hormones
Progesterone
Dehydroepiandrosterone Sulfate
Follicle Stimulating Hormone
12 Citations (Scopus)

HABP2 germline variants are uncommon in familial nonmedullary thyroid cancer

Weeks, A. L., Wilson, S. G., Ward, L., Goldblatt, J., Hui, J. & Walsh, J. P., 17 Aug 2016, In : BMC Medical Genetics. 17, 1, p. 1-6

Research output: Contribution to journalArticle

Open Access
Exome
Thyroid Neoplasms
Mutation
Neoplasm Genes
Tumor Suppressor Genes
141 Citations (Scopus)

Timing, rates and spectra of human germline mutation

Rahbari, R., Wuster, A., Lindsay, S. J., Hardwick, R. J., Alexandrov, L. B., Al Turki, S., Dominiczak, A., Morris, A., Porteous, D., Smith, B., Stratton, M. R., Hurles, M. E. & Wilson, S., 1 Feb 2016, In : Nature Genetics. 48, 2, p. 126-133 8 p.

Research output: Contribution to journalArticle

Germ-Line Mutation
Mutation Rate
Mutation
Paternal Age
Germ Cells
2015
10 Citations (Scopus)

Genetic sharing with cardiovascular disease risk factors and diabetes reveals novel bone mineral density loci

Reppe, S., Wang, Y., Thompson, W. K., Mcevoy, L. K., Schork, A. J., Zuber, V., Leblanc, M., Bettella, F., Mills, I. G., Desikan, R. S., Djurovic, S., Gautvik, K. M., Dale, A. M., Andreassen, O. A., Estrada, K., Styrkarsdottir, U., Evangelou, E., Hsu, Y-H., Duncan, E. L., Ntzani, E. E. & 173 othersOei, L., Albagha, O. M. E., Amin, N., Kemp, J. P., Koller, D. L., Li, G., Liu, C-T., Minster, R. L., Moayyeri, A., Vandenput, L., Willner, D., Xiao, S-M., Yerges-Armstrong, L. M., Zheng, H-F., Alonso, N., Eriksson, J., Kammerer, C. M., Kaptoge, S. K., Leo, P. J., Thorleifsson, G., Wilson, S., Wilson, J. F., Aalto, V., Alen, M., Aragaki, A. K., Aspelund, T., Center, J. R., Dailiana, Z., Duggan, D. J., Garcia, M., Garcia-Giralt, N., Giroux, S., Hallmans, G., Hocking, L. J., Husted, L. B., Jameson, K. A., Khusainova, R., Kim, G. S., Kooperberg, C., Koromila, T., Kruk, M., Laaksonen, M., Lacroix, A. Z., Lee, S. H., Leung, P. C., Lewis, J., Masi, L., Mencej-Bedrac, S., Nguyen, T. V., Nogues, X., Patel, M. S., Prezelj, J., Rose, L. M., Scollen, S., Siggeirsdottir, K., Smith, A. V., Svensson, O., Trompet, S., Trummer, O., Van Schoor, N. M., Woo, J., Zhu, K., Balcells, S., Brandi, M. L., Buckley, B. M., Cheng, S., Christiansen, C., Cooper, C., Dedoussis, G., Ford, I., Frost, M., Goltzman, D., González-Macías, J., Kähönen, M., Karlsson, M., Khusnutdinova, E., Koh, J-M., Kollia, P., Langdahl, B. L., Leslie, W. D., Lips, P., Ljunggren, Ö., Lorenc, R. S., Marc, J., Mellström, D., Obermayer-Pietsch, B., Olmos, J. M., Pettersson-Kymmer, U., Reid, D. M., Riancho, J. A., Ridker, P. M., Rousseau, F., Slagboom, P. E., Tang, N. L. S., Urreizti, R., Van Hul, W., Viikari, J., Zarrabeitia, M. T., Aulchenko, Y. S., Castano-Betancourt, M., Grundberg, E., Herrera, L., Ingvarsson, T., Johannsdottir, H., Kwan, T., Li, R., Luben, R., Medina-Gómez, C., Palsson, S. T., Rotter, J. I., Sigurdsson, G., Van Meurs, J. B. J., Verlaan, D., Williams, F. M. K., Wood, A. R., Zhou, Y., Pastinen, T., Raychaudhuri, S., Cauley, J. A., Chasman, D. I., Clark, G. R., Cummings, S. R., Danoy, P., Dennison, E. M., Eastell, R., Eisman, J. A., Gudnason, V., Hofman, A., Jackson, R. D., Jones, G., Jukema, J. W., Khaw, K-T., Lehtimäki, T., Liu, Y., Lorentzon, M., Mccloskey, E., Mitchell, B. D., Nandakumar, K., Nicholson, G. C., Oostra, B. A., Peacock, M., Pols, H. A. P., Prince, R., Raitakari, O., Reid, I. R., Robbins, J., Sambrook, P. N., Sham, P. C., Shuldiner, A. R., Tylavsky, F. A., Van Duijn, C. M., Wareham, N. J., Cupples, L. A., Econs, M. J., Evans, D. M., Harris, T. B., Kung, A. W. C., Psaty, B. M., Reeve, J., Spector, T. D., Streeten, E. A., Zillikens, M. C., Thorsteinsdottir, U., Ohlsson, C., Karasik, D., Richards, J. B., Brown, M. A., Stefansson, K., Uitterlinden, A. G., Ralston, S. H., Ioannidis, J. P. A., Kiel, D. P. & Rivadeneira, F., 2015, In : PLoS One. 10, 12, p. 1-20

Research output: Contribution to journalArticle

Open Access
bone density
Medical problems
Bone Density
cardiovascular diseases
Minerals
102 Citations (Scopus)

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Huang, J., Howie, B., Mccarthy, S., Memari, Y., Walter, K., Min, J. L., Danecek, P., Malerba, G., Trabetti, E., Zheng, H-F., Gambaro, G., Richards, J. B., Durbin, R., Timpson, N. J., Marchini, J., Soranzo, N., Al Turki, S., Amuzu, A., Anderson, C. A., Anney, R. & 218 othersAntony, D., Artigas, M. S., Ayub, M., Bala, S., Barrett, J. C., Barroso, I., Beales, P., Benn, M., Bentham, J., Bhattacharya, S., Birney, E., Blackwood, D., Bobrow, M., Bochukova, E., Bolton, P. F., Bounds, R., Boustred, C., Breen, G., Calissano, M., Carss, K., Casas, J. P., Chambers, J. C., Charlton, R., Chatterjee, K., Chen, L., Ciampi, A., Cirak, S., Clapham, P., Clement, G., Coates, G., Cocca, M., Collier, D. A., Cosgrove, C., Cox, T., Craddock, N., Crooks, L., Curran, S., Curtis, D., Daly, A., Day, I. N. M., Day-Williams, A., Dedoussis, G., Down, T., Du, Y., Van Duijn, C. M., Dunham, I., Edkins, S., Ekong, R., Ellis, P., Evans, D. M., Farooqi, I. S., Fitzpatrick, D. R., Flicek, P., Floyd, J., Foley, A. R., Franklin, C. S., Futema, M., Gallagher, L., Gasparini, P., Gaunt, T. R., Geihs, M., Geschwind, D., Greenwood, C., Griffin, H., Grozeva, D., Guo, X., Gurling, H., Hart, D., Hendricks, A. E., Holmans, P., Huang, L., Hubbard, T., Humphries, S. E., Hurles, M. E., Hysi, P., Iotchkova, V., Isaacs, A., Jackson, D. K., Jamshidi, Y., Johnson, J., Joyce, C., Karczewski, K. J., Kaye, J., Keane, T., Kemp, J. P., Kennedy, K., Kent, A., Keogh, J., Khawaja, F., Kleber, M. E., Van Kogelenberg, M., Kolb-Kokocinski, A., Kooner, J. S., Lachance, G., Langenberg, C., Langford, C., Lawson, D., Lee, I., Van Leeuwen, E. M., Lek, M., Li, R., Li, Y., Liang, J., Lin, H., Liu, R., Lönnqvist, J., Lopes, L. R., Lopes, M., Luan, J., Macarthur, D. G., Mangino, M., Marenne, G., März, W., Maslen, J., Matchan, A., Mathieson, I., Mcguffin, P., Mcintosh, A. M., Mckechanie, A. G., Mcquillin, A., Metrustry, S., Migone, N., Mitchison, H. M., Moayyeri, A., Morris, J., Morris, R., Muddyman, D., Muntoni, F., Nordestgaard, B. G., Northstone, K., O'Donovan, M. C., O'Rahilly, S., Onoufriadis, A., Oualkacha, K., Owen, M. J., Palotie, A., Panoutsopoulou, K., Parker, V., Parr, J. R., Paternoster, L., Paunio, T., Payne, F., Payne, S. J., Perry, J. R. B., Pietilainen, O., Plagnol, V., Pollitt, R. C., Povey, S., Quail, M. A., Quaye, L., Raymond, L., Rehnström, K., Ridout, C. K., Ring, S., Ritchie, G. R. S., Roberts, N., Robinson, R. L., Savage, D. B., Scambler, P., Schiffels, S., Schmidts, M., Schoenmakers, N., Scott, R. H., Scott, R. A., Semple, R. K., Serra, E., Sharp, S. I., Shaw, A., Shihab, H. A., Shin, S-Y., Skuse, D., Small, K. S., Smee, C., Smith, G. D., Southam, L., Spasic-Boskovic, O., Spector, T. D., St. Clair, D., St. Pourcain, B., Stalker, J., Stevens, E., Sun, J., Surdulescu, G., Suvisaari, J., Syrris, P., Tachmazidou, I., Taylor, R., Tian, J., Tobin, M. D., Toniolo, D., Traglia, M., Tybjaerg-Hansen, A., Valdes, A. M., Vandersteen, A. M., Varbo, A., Vijayarangakannan, P., Visscher, P. M., Wain, L. V., Walters, J. T. R., Wang, G., Wang, J., Wang, Y., Ward, K., Wheeler, E., Whincup, P., Whyte, T., Williams, H. J., Williamson, K. A., Wilson, C., Wilson, S., Wong, K., Xu, C., Yang, J., Zaza, G., Zeggini, E., Zhang, F., Zhang, P. & Zhang, W., 2015, In : Nature Communications. 6, p. 1-9

Research output: Contribution to journalArticle

Open Access
genome
Haplotypes
Genes
Genome
low frequencies
12 Citations (Scopus)

Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation

Addis, L., Ahn, J. W., Dobson, R., Dixit, A., Ogilvie, C. M., Pinto, D., Vaags, A. K., Coon, H., Chaste, P., Wilson, S., Parr, J. R., Andrieux, J., Lenne, B., Tumer, Z., Leuzzi, V., Aubell, K., Koillinen, H., Curran, S., Marshall, C. R., Scherer, S. W. & 3 othersStrug, L. J., Collier, D. A. & Pal, D. K., 2015, In : Human Mutation. 36, 9, p. 842-850

Research output: Contribution to journalArticle

Intellectual Disability
Language
Phenotype
Autistic Disorder
Epilepsy
466 Citations (Scopus)

New genetic loci link adipose and insulin biology to body fat distribution

Shungin, D., Winkler, T. W., Croteau-Chonka, D. C., Ferreira, T., Locke, A. E., Mägi, R., Strawbridge, R. J., Pers, T. H., Fischer, K., Justice, A. E., Workalemahu, T., Wu, J. M. W., Buchkovich, M. L., Heard-Costa, N. L., Roman, T. S., Drong, A. W., Song, C., Gustafsson, S., Day, F. R., Esko, T. & 387 othersFall, T., Kutalik, Z., Luan, J., Randall, J. C., Scherag, A., Vedantam, S., Wood, A. R., Chen, J., Fehrmann, R., Karjalainen, J., Kahali, B., Liu, C-T., Schmidt, E. M., Absher, D., Amin, N., Anderson, D., Beekman, M., Bragg-Gresham, J. L., Buyske, S., Demirkan, A., Ehret, G. B., Feitosa, M. F., Goel, A., Jackson, A. U., Johnson, T., Kleber, M. E., Kristiansson, K., Mangino, M., Leach, I. M., Medina-Gomez, C., Palmer, C. D., Pasko, D., Pechlivanis, S., Peters, M. J., Prokopenko, I., Stanca'Kova', A., Sung, Y. J., Tanaka, T., Teumer, A., Van Vliet-Ostaptchouk, J. V., Yengo, L., Zhang, W., Albrecht, E., Ärnlöv, J., Arscott, G. M., Bandinelli, S., Barrett, A., Bellis, C., Bennett, A. J., Berne, C., Blüher, M., Böhringer, S., Bonnet, F., Böttcher, Y., Bruinenberg, M., Carba, D. B., Caspersen, I. H., Clarke, R., Daw, E. W., Deelen, J., Deelman, E., Delgado, G., Doney, A. S. F., Eklund, N., Erdos, M. R., Estrada, K., Eury, E., Friedrich, N., Garcia, M. E., Giedraitis, V., Gigante, B., Go, A. S., Golay, A., Grallert, H., Grammer, T. B., Gräsler, J., Grewal, J., Groves, C. J., Haller, T., Hallmans, G., Hartman, C. A., Hassinen, M., Hayward, C., Heikkilä, K., Herzig, K-H., Helmer, Q., Hillege, H. L., Holmen, O., Hunt, S. C., Isaacs, A., Ittermann, T., James, A., Johansson, I., Juliusdottir, T., Kalafati, I-P., Kinnunen, L., Koenig, W., Kooner, I. K., Kratzer, W., Lamina, C., Leander, K., Lee, N. R., Lichtner, P., Lind, L., Lindström, J., Lobbens, S., Lorentzon, M., Mach, F., Magnusson, P. K. E., Mahajan, A., Mcardle, W. L., Menni, C., Merger, S., Mihailov, E., Milani, L., Mills, R., Moayyeri, A., Monda, K. L., Mooijaart, S. P., Mühleisen, T. W., Mulas, A., Müller, G., Müller-Nurasyid, M., Nagaraja, R., Nalls, M. A., Narisu, N., Glorioso, N., Nolte, I. M., Olden, M., Rayner, N. W., Renstrom, F., Ried, J. S., Robertson, N. R., Rose, L. M., Sanna, S., Scharnagl, H., Scholtens, S., Sennblad, B., Seufferlein, T., Sitlani, C. M., Smith, A. V., Stirrups, K., Stringham, H. M., Sundström, J., Swertz, M. A., Swift, A. J., Syvänen, A-C., Tayo, B. O., Thorand, B., Thorleifsson, G., Tomaschitz, A., Troffa, C., Van Oort, F. V. A., Verweij, N., Vonk, J. M., Waite, L. L., Wennauer, R., Wilsgaard, T., Wojczynski, M. K., Wong, A., Zhang, Q., Zhao, J. H., Brennan, E. P., Choi, M., Eriksson, P., Folkersen, L., Franco-Cereceda, A., Gharavi, A. G., Hedman, A. K., Hivert, M-F., Huang, J., Kanoni, S., Karpe, F., Keildson, S., Kiryluk, K., Liang, L., Lifton, R. P., Ma, B., Mcknight, A. J., Mcpherson, R., Metspalu, A., Min, J. L., Moffatt, M. F., Montgomery, G. W., Murabito, J. M., Nicholson, G., Nyholt, D. R., Olsson, C., Perry, J. R. B., Reinmaa, E., Salem, R. M., Sandholm, N., Schadt, E. E., Scott, R. A., Stolk, L., Vallejo, E. E., Westra, H-J., Zondervan, K. T., Amouyel, P., Arveiler, D., Bakker, S. J. L., Beilby, J., Bergman, R. N., Blangero, J., Brown, M. J., Burnier, M., Campbell, H., Chakravarti, A., Chines, P. S., Claudi-Boehm, S., Collins, F. S., Crawford, D. C., Danesh, J., De Faire, U., De Geus, E. J. C., Dörr, M., Erbel, R., Eriksson, J. G., Farrall, M., Ferrannini, E., Ferrières, J., Forouhi, N. G., Forrester, T., Franco, O. H., Gansevoort, R. T., Gieger, C., Gudnason, V., Haiman, C. A., Harris, T. B., Hattersley, A. T., Heliövaara, M., Hicks, A. A., Hingorani, A. D., Hoffmann, W., Hofman, A., Homuth, G., Humphries, S. E., Hyppönen, E., Illig, T., Jarvelin, M-R., Johansen, B., Jousilahti, P., Jula, A. M., Kaprio, J., Kee, F., Keinanen-Kiukaanniemi, S. M., Kooner, J. S., Kooperberg, C., Kovacs, P., Kraja, A. T., Kumari, M., Kuulasmaa, K., Kuusisto, J., Lakka, T. A., Langenberg, C., Le Marchand, L., Lehtimäki, T., Lyssenko, V., Männistö, S., Marette, A., Matise, T. C., Mckenzie, C. A., Mcknight, B., Musk, A. W., Möhlenkamp, S., Morris, A. D., Nelis, M., Ohlsson, C., Oldehinkel, A. J., Ong, K. K., Palmer, L. J., Penninx, B. W., Peters, A., Pramstaller, P. P., Raitakari, O. T., Rankinen, T., Rao, D. C., Rice, T. K., Ridker, P. M., Ritchie, M. D., Rudan, I., Salomaa, V., Samani, N. J., Saramies, J., Sarzynski, M. A., Schwarz, P. E. H., Shuldiner, A. R., Staessen, J. A., Steinthorsdottir, V., Stolk, R. P., Strauch, K., Tönjes, A., Tremblay, A., Tremoli, E., Vohl, M-C., Völker, U., Vollenweider, P., Wilson, J. F., Witteman, J. C., Adair, L. S., Bochud, M., Boehm, B. O., Bornstein, S. R., Bouchard, C., Cauchi, S., Caulfield, M. J., Chambers, J. C., Chasman, D. I., Cooper, R. S., Dedoussis, G., Ferrucci, L., Froguel, P., Grabe, H-J., Hamsten, A., Hui, J., Hveem, K., Jöckel, K-H., Kivimaki, M., Kuh, D., Laakso, M., Liu, Y., März, W., Munroe, P. B., Njolstad, I., Oostra, B. A., Palmer, C. N. A., Pedersen, N. L., Perola, M., Pe'Russe, L., Peters, U., Power, C., Quertermous, T., Rauramaa, R., Rivadeneira, F., Saaristo, T. E., Saleheen, D., Sinisalo, J., Slagboom, P. E., Snieder, H., Spector, T. D., Thorsteinsdottir, U., Stumvoll, M., Tuomilehto, J., Uitterlinden, A. G., Uusitupa, M., Van Der Harst, P., Veronesi, G., Walker, M., Wareham, N. J., Watkins, H., Wichmann, H-E., Abecasis, G. R., Assimes, T. L., Berndt, S. I., Boehnke, M., Borecki, I. B., Deloukas, P., Franke, L., Frayling, T. M., Groop, L. C., Hunter, D. J., Kaplan, R. C., O'Connell, J. R., Qi, L., Schlessinger, D., Strachan, D. P., Stefansson, K., Van Duijn, C. M., Willer, C. J., Visscher, P. M., Yang, J., Hirschhorn, J. N., Zillikens, M. C., Mccarthy, M. I., Speliotes, E. K., North, K. E., Fox, C. S., Barroso, I., Franks, P. W., Ingelsson, E., Heid, I. M., Loos, R. J. F., Cupples, L. A., Morris, A. P., Lindgren, C. M., Mohlke, K. L. & Wilson, S., 2015, In : Nature. 518, p. 187-196

Research output: Contribution to journalArticle

23 Citations (Scopus)

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Schmidts, M., Hou, Y., Cortés, C. R., Mans, D. A., Huber, C., Boldt, K., Patel, M., Van Reeuwijk, J., Plaza, J. M., Van Beersum, S. E. C., Yap, Z. M., Letteboer, S. J. F., Taylor, S. P., Herridge, W., Johnson, C. A., Scambler, P. J., Ueffing, M., Kayserili, H., Krakow, D., King, S. M. & 167 othersBeales, P. L., Al-Gazali, L., Wicking, C., Cormier-Daire, V., Roepman, R., Mitchison, H. M., Witman, G. B., Al-Turki, S., Anderson, C., Anney, R., Antony, D., Asimit, J., Ayub, M., Barrett, J., Barroso, I., Bentham, J., Bhattacharya, S., Blackwood, D., Bobrow, M., Bochukova, E., Bolton, P., Boustred, C., Breen, G., Brion, M. J., Brown, A., Calissano, M., Carss, K., Chatterjee, K., Chen, L., Cirak, S., Clapham, P., Clement, G., Coates, G., Collier, D., Cosgrove, C., Cox, T., Craddock, N., Crooks, L., Curran, S., Daly, A., Danecek, P., Davey, S. G., Day-Williams, A., Day, I., Durbin, R., Edkins, S., Ellis, P., Evans, D., Farooqi, I. S., Fatemifar, G., Fitzpatrick, D., Flicek, P., Floyd, J., Foley, A. R., Franklin, C., Futema, M., Gallagher, L., Gaunt, T., Geschwind, D., Greenwood, C., Grozeva, D., Guo, X., Gurling, H., Hart, D., Hendricks, A., Holmans, P., Huang, J., Humphries, S. E., Hurles, M., Hysi, P., Jackson, D., Jamshidi, Y., Jewell, D., Chris, J., Kaye, J., Keane, T., Kemp, J., Kennedy, K., Kent, A., Kolb-Kokocinski, A., Lachance, G., Langford, C., Lee, I., Li, R., Li, Y., Ryan, L., Lönnqvist, J., Lopes, M., MacArthur, D. G., Massimo, M., Marchini, J., Maslen, J., McCarthy, S., McGuffin, P., McIntosh, A., McKechanie, A., McQuillin, A., Memari, Y., Metrustry, S., Min, J., Moayyeri, A., Morris, J., Muddyman, D., Muntoni, F., Northstone, K., O'Donovan, M., O'Rahilly, S., Onoufriadis, A., Oualkacha, K., Owen, M., Palotie, A., Panoutsopoulou, K., Parker, V., Parr, J., Paternoster, L., Paunio, T., Payne, F., Perry, J., Pietilainen, O., Plagnol, V., Quail, M. A., Quaye, L., Raymond, L., Rehnström, K., Richards, J. B., Ring, S., Ritchie, G. R. S., Savage, D. B., Schoenmakers, N., Semple, R. K., Serra, E., Shihab, H., Shin, S. Y., Skuse, D., Small, K., Smee, C., Soler, A. M., Soranzo, N., Southam, L., Spector, T., Pourcain, B. S., Clair, D. S., Stalker, J., Surdulescu, G., Suvisaari, J., Tachmazidou, I., Tian, J., Timpson, N., Tobin, M., Valdes, A., Van Kogelenberg, M., Vijayarangakannan, P., Wain, L., Walter, K., Wang, J., Ward, K., Wheeler, E., Whittall, R., Williams, H., Williamson, K., Wilson, S. G., Wong, K., Whyte, T., Jiang, X. C., Zeggini, E., Zhang, F. & Zheng, H. F., 5 Jun 2015, In : Nature Communications. 6, 7074.

Research output: Contribution to journalArticle

Open Access
penetrants
Dyneins
vertebrates
machinery
destabilization
339 Citations (Scopus)

The UK10K project identifies rare variants in health and disease

Walter, K., Min, J. L., Huang, J., Crooks, L., Memari, Y., Mccarthy, S., Perry, J. R. B., Xu, C., Futema, M., Lawson, D., Iotchkova, V., Schiffels, S., Hendricks, A. E., Danecek, P., Li, R., Floyd, J., Wain, L. V., Barroso, I., Humphries, S. E., Hurles, M. E. & 221 othersZeggini, E., Barrett, J. C., Plagnol, V., Richards, J. B., Greenwood, C. M. T., Timpson, N. J., Durbin, R., Bala, S., Clapham, P., Coates, G., Cox, T., Daly, A., Du, Y., Edkins, S., Ellis, P., Flicek, P., Guo, X., Huang, L., Jackson, D. K., Joyce, C., Keane, T., Kolb-Kokocinski, A., Langford, C., Li, Y., Liang, J., Lin, H., Liu, R., Maslen, J., Muddyman, D., Quail, M. A., Stalker, J., Sun, J., Tian, J., Wang, G., Wang, J., Wang, Y., Wong, K., Zhang, P., Birney, E., Boustred, C., Chen, L., Clement, G., Cocca, M., Smith, G. D., Day, I. N. M., Day-Williams, A., Down, T., Dunham, I., Evans, D. M., Gaunt, T. R., Geihs, M., Hart, D., Howie, B., Hubbard, T., Hysi, P., Jamshidi, Y., Karczewski, K. J., Kemp, J. P., Lachance, G., Lek, M., Lopes, M., Macarthur, D. G., Marchini, J., Mangino, M., Mathieson, I., Metrustry, S., Moayyeri, A., Northstone, K., Panoutsopoulou, K., Paternoster, L., Quaye, L., Ring, S., Ritchie, G. R. S., Shihab, H. A., Shin, S-Y., Small, K. S., Artigas, M. S., Soranzo, N., Southam, L., Spector, T. D., St Pourcain, B., Surdulescu, G., Tachmazidou, I., Tobin, M. D., Valdes, A. M., Visscher, P. M., Ward, K., Wilson, S., Yang, J., Zhang, F., Zheng, H-F., Anney, R., Ayub, M., Blackwood, D., Bolton, P. F., Breen, G., Collier, D. A., Craddock, N., Curran, S., Curtis, D., Gallagher, L., Geschwind, D., Gurling, H., Holmans, P., Lee, I., Lönnqvist, J., Mcguffin, P., Mcintosh, A. M., Mckechanie, A. G., Mcquillin, A., Morris, J., O'Donovan, M. C., Owen, M. J., Palotie, A., Parr, J. R., Paunio, T., Pietilainen, O., Rehnström, K., Sharp, S. I., Skuse, D., St Clair, D., Suvisaari, J., Walters, J. T. R., Williams, H. J., Bochukova, E., Bounds, R., Dominiczak, A., Farooqi, I. S., Keogh, J., Marenne, G., Morris, A., O'Rahilly, S., Porteous, D. J., Smith, B. H., Wheeler, E., Al Turki, S., Anderson, C. A., Antony, D., Beales, P., Bentham, J., Bhattacharya, S., Calissano, M., Carss, K., Chatterjee, K., Cirak, S., Cosgrove, C., Fitzpatrick, D. R., Foley, A. R., Franklin, C. S., Grozeva, D., Mitchison, H. M., Muntoni, F., Onoufriadis, A., Parker, V., Payne, F., Raymond, F. L., Roberts, N., Savage, D. B., Scambler, P., Schmidts, M., Schoenmakers, N., Semple, R. K., Serra, E., Spasic-Boskovic, O., Stevens, E., Van Kogelenberg, M., Vijayarangakannan, P., Williamson, K. A., Wilson, C., Whyte, T., Ciampi, A., Oualkacha, K., Bobrow, M., Griffin, H., Kaye, J., Kennedy, K., Kent, A., Smee, C., Charlton, R., Ekong, R., Khawaja, F., Lopes, L. R., Migone, N., Payne, S. J., Pollitt, R. C., Povey, S., Ridout, C. K., Robinson, R. L., Scott, R. H., Shaw, A., Syrris, P., Taylor, R., Vandersteen, A. M., Amuzu, A., Casas, J. P., Chambers, J. C., Dedoussis, G., Gambaro, G., Gasparini, P., Isaacs, A., Johnson, J., Kleber, M. E., Kooner, J. S., Langenberg, C., Luan, J., Malerba, G., März, W., Matchan, A., Morris, R., Nordestgaard, B. G., Benn, M., Scott, R. A., Toniolo, D., Traglia, M., Tybjaerg-Hansen, A., Van Duijn, C. M., Van Leeuwen, E. M., Varbo, A., Whincup, P., Zaza, G. & Zhang, W., 2015, In : Nature. 526, 7571, p. 82-89

Research output: Contribution to journalArticle

Open Access
Health
Lipoproteins
Cholesterol
Agglomeration
Genes
39 Citations (Scopus)

Whole-genome sequence-based analysis of thyroid function

Taylor, P. N., Porcu, E., Chew, S., Campbell, P. J., Traglia, M., Brown, S. J., Mullin, B., Shihab, H. A., Min, J., Walter, K. K. H., Memari, Y., Huang, J., Barnes, M. R., Beilby, J., Charoen, P., Danecek, P., Dudbridge, F., Forgetta, V., Greenwood, C., Grundberg, E. & 201 othersJohnson, A. D., Hui, J., Lim, E. M., Mccarthy, S., Muddyman, D., Panicker, V., Perry, J. R. B., Bell, J. T., Yuan, W., Relton, C. L., Gaunt, T. R., Schlessinger, D., Abecasis, G. R., Cucca, F., Surdulescu, G. L., Woltersdorf, W., Zeggini, E., Zheng, H., Toniolo, D., Dayan, C. M., Naitza, S., Walsh, J., Spector, T. D., Smith, G. D., Durbin, R. M., Richards, J. B., Sanna, S., Soranzo, N., Timpson, N. J., Wilson, S., Turki, S. A., Anderson, C. A., Anney, R. J. L., Antony, D., Artigas, M. S., Ayub, M. K., Balasubramaniam, S., Barrett, J. C., Barroso, I., Beales, P. L., Bentham, J. R., Bhattacharya, S., Birney, E., Blackwood, D. H. R., Bobrow, M. N., Bochukova, E. G., Bolton, P. A., Bounds, R., Boustred, C. R., Breen, G., Calissano, M., Carss, K. J., Chatterjee, K., Chen, L., Ciampi, A., Cirak, S., Clapham, P., Clement, G., Coates, G., Collier, D. A., Cosgrove, C. L., Cox, T. V., Craddock, N. J., Crooks, L., Curran, S. R., Curtis, D., Daly, A., Day-Williams, A. G., Day, I. N. M., Down, T. A., Du, Y., Dunham, I., Edkins, S. J., Ellis, P. D., Evans, D. M. D., Faroogi, S., Fatemifar, G., Fitzpatrick, D. R., Flicek, P., Flyod, J., Foley, A. R., Franklin, C. S., Futema, M., Gallagher, L., Geihs, M., Geschwind, D. H., Griffin, H., Grozeva, D., Guo, X., Gurling, H. M. D., Hart, D. J., Hendricks, A. E., Holmans, P. A., Howie, B. N., Huang, L., Hubbard, T. J. P., Humphries, S. E., Hurles, M. E., Hysi, P. G., Jackson, D. K., Jamshidi, Y., Jing, T., Joyce, C., Kaye, J., Keane, T. M., Keogh, J. M., Kemp, J. P., Kennedy, K. L., Kolb-Kokocinski, A., Lachance, G., Langford, C., Lawson, D. J., Lee, I., Lek, M., Liang, J., Lin, H., Li, R., Li, Y., Liu, R., Lönnqvist, J., Lopes, M. C., Lotchkova, V., Macarthur, D. G., Marchini, J. L., Maslen, J., Massimo, M., Mathieson, I., Marenne, G., Mcguffin, P. W., Mcintosh, A. M., Mckechanie, A. G., Mcquillin, A., Metrustry, S. J., Mitchison, H. M., Moayyeri, A., Morris, J. A., Muntoni, F. M., Northstone, K., O'Donnovan, M., Onoufriadis, A., O'Rahilly, S. P., Oualkacha, K., Owen, M. J., Palotie, A., Panoutsopoulou, K., Parker, V., Parr, J. R., Paternoster, L., Paunio, T., Payne, F., Pietiläinen, O. P. H., Plagnol, V., Quaye, L., Quail, M. A., Raymond, L. F., Rehnström, K., Richards, B., Ring, S. M., Ritchie, G. R. S., Roberts, N. Y., Savage, D. B., Scambler, P. J., Schiffels, S., Schmidts, M., Schoenmakers, N. A., Semple, R. K., Serra, E., Sharp, S. I., Shin, S., Skuse, D. H., Small, K. S., Southam, L., Spasić-Bǒsković, O., Clair, D. S., Stalker, J. W., Stevens, E., Pourcian, B. S., Sun, J., Suvisaari, J. M., Tachmazidou, I., Tobin, M. D., Valdes, A. A., Van Kogelenberg, M., Vijayarangakannan, P., Visscher, P. M., Wain, L. V., Walters, J. T. R., Wang, G., Wang, J., Wang, Y., Ward, K. J., Wheeler, E., Whyte, T., Williams, H., Williamson, K. A., Wilson, C., Wong, K., Xu, C., Yang, J., Zhang, F. & Zhang, P., 2015, In : Nature Communications. 6, p. 1-11

Research output: Contribution to journalArticle

Open Access
genome
Thyrotropin
Sequence Analysis
Thyroid Gland
Genes
166 Citations (Scopus)

Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture

Zheng, H-F., Forgetta, V., Hsu, Y-H., Estrada, K., Rosello-Diez, A., Leo, P. J., Dahia, C. L., Park-Min, K. H., Tobias, J. H., Kooperberg, C., Kleinman, A., Styrkarsdottir, U., Liu, C-T., Uggla, C., Evans, D. S., Nielson, C. M., Walter, K., Pettersson-Kymmer, U., Mccarthy, S., Eriksson, J. & 136 othersKwan, T., Jhamai, M., Trajanoska, K., Memari, Y., Min, J., Huang, J., Danecek, P., Wilmot, B., Li, R., Chou, W-C., Mokry, L. E., Moayyeri, A., Claussnitzer, M., Cheng, C-H., Cheung, W., Medina-Gómez, C., Ge, B., Chen, S-H., Choi, K., Oei, L., Fraser, J., Kraaij, R., Hibbs, M. A., Gregson, C. L., Paquette, D., Hofman, A., Wibom, C., Tranah, G. J., Marshall, M., Gardiner, B. B., Cremin, K., Auer, P., Hsu, L., Ring, S., Tung, J. Y., Thorleifsson, G., Enneman, A. W., Van Schoor, N. M., De Groot, L. C. P. G. M., Van Der Velde, N., Melin, B., Kemp, J. P., Christiansen, C., Sayers, A., Zhou, Y., Calderari, S., Van Rooij, J., Carlson, C., Peters, U., Berlivet, S., Dostie, J., Uitterlinden, A. G., Williams, S. R., Farber, C., Grinberg, D., Lacroix, A. Z., Haessler, J., Chasman, D. I., Giulianini, F., Rose, L. M., Ridker, P. M., Eisman, J. A., Nguyen, T. V., Center, J. R., Nogues, X., Garcia-Giralt, N., Launer, L. L., Gudnason, V., Mellström, D., Vandenput, L., Amin, N., Van Duijn, C. M., Karlsson, M. K., Ljunggren, O., Svensson, O., Hallmans, G., Rousseau, F., Giroux, S., Bussière, J., Arp, P. P., Koromani, F., Prince, R., Lewis, J., Langdahl, B. L., Hermann, A. P., Jensen, J-EB., Kaptoge, S., Khaw, K-T., Reeve, J., Formosa, M. M., Xuereb-Anastasi, A., Åkesson, K., Mcguigan, F. E., Garg, G., Olmos, J. M., Zarrabeitia, M. T., Riancho, J. A., Ralston, S. H., Alonso, N., Jiang, X., Goltzman, D., Pastinen, T., Grundberg, E., Gauguier, D., Orwoll, E. S., Karasik, D., Davey-Smith, G., Smith, A. V., Siggeirsdottir, K., Harris, T. B., Zillikens, M. C., Van Meurs, J. B. J., Thorsteinsdottir, U., Maurano, M. T., Timpson, N. J., Soranzo, N., Durbin, R., Wilson, S. G., Ntzani, E. E., Brown, M. A., Stefansson, K., Hinds, D. A., Spector, T., Cupples, L. A., Ohlsson, C., Greenwood, C. M. T., Jackson, R. D., Rowe, D. W., Loomis, C. A., Evans, D. M., Ackert-Bicknell, C. L., Joyner, A. L., Duncan, E. L., Kiel, D. P., Rivadeneira, F. & Richards, J. B., 2015, In : Nature. 526, 7571, p. 112-117

Research output: Contribution to journalArticle

Bone
Genes
Minerals
2014
41 Citations (Scopus)

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

Timpson, N. J., Walter, K. K. H., Min, J. L., Tachmazidou, I., Malerba, G., Shin, S., Chen, L., Futema, M., Southam, L., Iotchkova, V., Cocca, M., Huang, J., Memari, Y., Mccarthy, S., Danecek, P., Muddyman, D., Mangino, M., Menni, C., Perry, J. R. B., Ring, S. M. & 183 othersGaye, A., Dedoussis, G. V., Farmaki, A. E., Burton, P., Talmud, P. J., Gambaro, G., Spector, T. D., Smith, G. D., Durbin, R. M., Richards, J. B., Humphries, S. E., Zeggini, E., Soranzo, N., Turki, S. A., Anderson, C. A., Anney, R. J. L., Antony, D., Artigas, M. S., Ayub, M. K., Balasubramaniam, S., Barrett, J. C. J., Barroso, I., Beales, P. L., Bentham, J. R., Bhattacharya, S., Birney, E., Blackwood, D. H. R., Bobrow, M. N., Bochukova, E. G., Bolton, P. A., Bounds, R., Boustred, C. R., Breen, G., Calissano, M., Carss, K. J., Chatterjee, K., Ciampi, A., Cirak, S., Clapham, P., Clement, G., Coates, G., Collier, D., Cosgrove, C. L., Cox, T. V., Craddock, N. J., Crooks, L., Curran, S. R., Curtis, D. F., Daly, A., Day-Williams, A. G., Day, I. N. M., Down, T. A., Du, Y., Dunham, I., Edkins, S. J., Ellis, P. D., Evans, D. M. D., Faroogi, S., Fatemifar, G., Fitzpatrick, D. R., Flicek, P., Flyod, J., Foley, A. R., Franklin, C. S., Gallagher, L., Gaunt, T. R., Geihs, M., Geschwind, D. H., Greenwood, C., Griffin, H., Grozeva, D., Guo, X., Gurling, H. M. D., Hart, D. J., Hendricks, A. E., Holmans, P. A., Howie, B. N., Huang, L., Hubbard, T. J. P., Hurles, M. E., Hysi, P. G., Jackson, D. K., Jamshidi, Y., Jing, T., Joyce, C., Kaye, J., Keane, T. M., Keogh, J. M., Kemp, J. P., Kennedy, K. L., Kolb-Kokocinski, A., Lachance, G., Langford, C. F., Lawson, D. J., Lee, I., Lek, M., Liang, J., Lin, H., Li, R., Li, Y., Liu, R., Lönnqvist, J. K., Lopes, M. C., Lotchkova, V., Macarthur, D. G., Marchini, J., Maslen, J., Massimo, M., Mathieson, I., Marenne, G., Mcguffin, P. W., Mcintosh, A. M., Mckechanie, A. G., Mcquillin, A., Metrustry, S. J., Mitchison, H. M., Moayyeri, A., Morris, J. A., Muntoni, F. M., Northstone, K., O'Donnovan, M., Onoufriadis, A., O'Rahilly, S. P., Oualkacha, K., Owen, M. J., Palotie, A., Panoutsopoulou, K., Parker, V., Parr, J. R., Paternoster, L., Paunio, T., Payne, F., Pietiläinen, O. P. H., Plagnol, V., Quaye, L., Quail, M. A., Raymond, L. F., Rehnström, K., Richards, B., Ritchie, G. R. S., Roberts, N. Y., Savage, D. B., Scambler, P. J., Schiffels, S., Schmidts, M., Schoenmakers, N. A., Semple, R. K., Serra, E., Sharp, S. I., Shihab, H., Skuse, D. H., Small, K. S., Spasić-Bǒsković, O., Clair, D. S., Stalker, J. W., Stevens, E., Pourcian, B. S., Sun, J., Surdulescu, G. L., Suvisaari, J. M., Tobin, M. D., Valdes, A. A., Van Kogelenberg, M., Vijayarangakannan, P., Visscher, P. M., Wain, L. V., Walters, J. T. R., Wang, G., Wang, J., Wang, Y., Ward, K. J., Wheeler, E., Whyte, T., Williams, H., Williamson, K. A., Wilson, C., Wilson, S., Wong, K., Xu, C., Yang, J., Zhang, F., Zhang, P. & Zheng, H., 2014, In : Nature Communications. 5, p. 10pp

Research output: Contribution to journalArticle

Open Access
sequencing
genome
Genes
Plasmas
HDL Lipoproteins
53 Citations (Scopus)

Genetic determinants of heel bone properties: Genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium

Moayyeri, A., Hsu, Y., Karasik, D., Estrada, K., Xiao, S., Nielson, C. M., Srikanth, P., Giroux, S. K., Wilson, S., Zheng, H., Smith, A. V., Pye, S. R., Leo, P. J., Teumer, A., Hwang, J., Ohlsson, C., Mcguigan, F. E. A., Minster, R. L., Hayward, C., Olmos, J. M. & 110 othersLyytikäinen, L. P., Lewis, J., Swart, K. M. A., Masi, L., Oldmeadow, C. J., Holliday, E. G., Cheng, S., Van Schoor, N. M., Harvey, N. C. W., Kruk, M., Del Greco, F. M., Igl, W., Trummer, O., Grigoriou, E., Luben, R. N., Liu, C., Zhou, Y., Oei, L. D. W., Medina-Gõmez, C., Zmuda, J. M., Tranah, G. J., Brown, S. J., Williams, F. M. K., Soranzo, N., Jakobsdottir, J., Siggeirsdóttir, K., Holliday, K. L., Hannemann, A., Go, M., Garcia, M. E., Polašek, O., Laaksonen, M. M. L., Zhu, K., Enneman, A. W., Mcevoy, M. A., Pee, R., Sham, P., Jaworski, M., Johansson, A. M., Hicks, A. A., Płudowski, P., Scott, R. J., Dhonukshe-Rutten, R. A. M., Van Der Velde, N. V., Kaöhönen, M., Viikari, J. S. A., Sievaönen, H., Raitakari, O. T., González-Macías, J. J., Hernández, J. L. Z., Mellström, D. D., Ljunggren, O., Cho, Y., Völker, U. U., Nauck, M. A., Homuth, G., Völzke, H., Haring, R., Brown, M. A., Mccloskey, E. V., Nicholson, G. C., Eastell, R., Eisman, J. A., Jones, G., Reid, I. R., Dennison, E. M., Wark, J. D., Boonen, S., Vanderschueren, D. M. O. I., Wu, F. C. W., Aspelund, T., Richards, J. B., Bauer, D. C., Hofman, A., Khaw, K. T. T., Dedoussis, G. V. Z., Obermayer-Pietsch, B. M., Gyllensten, U. B., Pramstaller, P. P., Lorenc, R. S., Cooper, C. C., Kung, A., Lips, P. T. A. M., Alén, M. J., Attia, J. R., Brandi, M. L., De Groot, L. C. P. G. M., Lehtimäki, T. J., Riancho, J. A., Campbell, H. S., Liu, Y., Harris, T. B., Åkesson, K., Karlsson, M. K., Jong-Lee, Y., Wallaschofski, H., Duncan, E. L., O'Neill, T. W., Gudnason, V. G., Spector, T. D., Rousseau, F. L., Orwoll, E. S., Cummings, S. R., Wareham, N. J., Rivadeneira, F. F., Uitterlinden, A. G., Prince, R., Kiel, D. P., Reeve, J. & Kaptoge, S. K., 2014, In : Human Molecular Genetics. 23, 11, p. 3054-3068

Research output: Contribution to journalArticle

Open Access
Calcaneus
Heel
Genome-Wide Association Study
Bone Density
Meta-Analysis
74 Citations (Scopus)

Identification of novel genetic loci associated with thyroid peroxidase antibodies and clinical thyroid disease

Medici, M., Porcu, E., Pistis, G., Teumer, A., Brown, S. J., Jensen, R. A., Rawal, R., Roef, G. L., Plantinga, T. S., Vermeulen, S. H., Lahti, J., Simmonds, M. J., Husemoen, L. L. N., Freathy, R. M., Shields, B. M., Pietzner, D., Nagy, R., Broer, L., Chaker, L., Korevaar, T. I. M. & 98 othersPlia, M. G., Sala, C., Voelker, U., Richards, J. B., Sweep, F. C., Gieger, C., Corre, T., Kajantie, E., Thuesen, B., Taes, Y. E., Visser, W. E., Hattersley, A. T., Kratzsch, J., Hamilton, A., Li, W., Homuth, G., Lobina, M., Mariotti, S., Soranzo, N., Cocca, M., Nauck, M., Spielhagen, C., Ross, A., Arnold, A., van de Bunt, M., Liyanarachchi, S., Heier, M., Grabe, H. J., Masciullo, C., Galesloot, T. E., Lim, E. M., Reischl, E., Leedman, P. J., Lai, S., Delitala, A., Bremner, A. P., Philips, D. I. W., Beilby, J. P., Mulas, A., Vocale, M., Abecasis, G., Forsen, T., James, A., Widen, E., Hui, J., Prokisch, H., Rietzschel, E. E., Palotie, A., Feddema, P., Fletcher, S. J., Schramm, K., Rotter, J. I., Kluttig, A., Radke, D., Traglia, M., Surdulescu, G. L., He, H., Franklyn, J. A., Tiller, D., Vaidya, B., de Meyer, T., Jorgensen, T., Eriksson, J. G., O'Leary, P. C., Wichmann, E., Hermus, A. R., Psaty, B. M., Ittermann, T., Hofman, A., Bosi, E., Schlessinger, D., Wallaschofski, H., Pirastu, N., Aulchenko, Y. S., de la Chapelle, A., Netea-Maier, R. T., Gough, S. C. L., Meyer zu Schwabedissen, H., Frayling, T. M., Kaufman, J-M., Linneberg, A., Raeikkoenen, K., Smit, J. W. A., Kiemeney, L. A., Rivadeneira, F., Uitterlinden, A. G., Walsh, J. P., Meisinger, C., Den Heijer, M., Visser, T. J., Spector, T. D., Wilson, S. G., Voelzke, H., Cappola, A., Toniolo, D., Sanna, S., Naitza, S. & Peeters, R. P., Feb 2014, In : PLoS Genetics. 10, 2, p. 1-13 13 p., e1004123.

Research output: Contribution to journalArticle

Open Access
11 Citations (Scopus)

Influence of ARHGEF3 and RHOA knockdown on ACTA2 and other genes in osteoblasts and osteoclasts

Mullin, B., Mamotte, C., Prince, R. & Wilson, S., 2014, In : PLoS One. 9, 5, p. 9pp

Research output: Contribution to journalArticle

Open Access
osteoclasts
osteoblasts
Osteoblasts
Osteoclasts
Genes
2013
101 Citations (Scopus)

A Meta-Analysis of Thyroid-Related Traits Reveals Novel Loci and Gender-Specific Differences in the Regulation of Thyroid Function

Porcu, E., Medici, M., Pistis, G., Volpato, C. B., Wilson, S., Cappola, A. R., Bos, S. D., Deelen, J., Den Heijer, M., Freathy, R. M., Lahti, J., Liu, C., Lopez, L. M., Nolte, I. M., O'Connell, J. R., Tanaka, T., Trompet, S., Arnold, A., Bandinelli, S., Beekman, M. & 74 othersBöhringer, S., Brown, S. J., Buckley, B. M., Camaschella, C., De Craen, A. J. M., Davies, G., De Visser, M. C. H., Ford, I., Forsen, T., Frayling, T. M., Fugazzola, L., Gögele, M., Hattersley, A. T., Hermus, A. R., Hofman, A., Houwing-Duistermaat, J. J., Jensen, R. A., Kajantie, E., Kloppenburg, M., Lim, E. M., Masciullo, C., Mariotti, S., Minelli, C., Mitchell, B. D., Nagaraja, R., Netea-Maier, R. T., Palotie, A., Persani, L., Piras, M. G., Psaty, B. M., Räikkönen, K., Richards, J. B., Rivadeneira, F., Sala, C., Sabra, M. M., Sattar, N., Shields, B. M., Soranzo, N., Starr, J. M., Stott, D. J., Sweep, F. C. G. J., Usala, G., Van Der Klauw, M. M., Van Heemst, D., Van Mullem, A., Vermeulen, S. H., Visser, W. E., Walsh, J., Westendorp, R. G. J., Widen, E., Zhai, G., Cucca, F., Deary, I. J., Eriksson, J. G., Ferrucci, L., Fox, C. S., Jukema, J. W., Kiemeney, L. A., Pramstaller, P. P., Schlessinger, D., Shuldiner, A. R., Slagboom, E. P., Uitterlinden, A. G., Vaidya, B., Visser, T. J., Wolffenbuttel, B. H. R., Meulenbelt, I., Rotter, J. I., Spector, T. D., Hicks, A. A., Toniolo, D., Sanna, S., Peeters, R. P. & Naitza, S., 2013, In : PLoS Genetics. 9, 2, p. 20pp

Research output: Contribution to journalArticle

Open Access
3 Citations (Scopus)
Open Access
109 Citations (Scopus)

Metabolomic markers reveal novel pathways of ageing and early development in human populations

Menni, C., Kastenmüller, G., Petersen, A. K., Bell, J. T., Psatha, M., Tsai, P-C., Gieger, C., Schulz, H., Erte, I., John, S., Brosnan, M. J., Wilson, S., Tsaprouni, L., Lim, E., Stuckey, B., Deloukas, P., Mohney, R., Suhre, K., Spector, T. D. & Valdes, A. M., 2013, In : International Journal of Epidemiology. 42, 4, p. 1111-1119

Research output: Contribution to journalArticle

Open Access
Metabolomics
Human Development
Tryptophan
Monozygotic Twins
Population
122 Citations (Scopus)

Mutations in GDP-mannose pyrophosphorylase b cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan

Carss, K. J., Stevens, E., Foley, A. R., Cirak, S., Riemersma, M., Torelli, S., Hoischen, A., Willer, T., Van Scherpenzeel, M., Moore, S. A., Messina, S., Bertini, E., Bönnemann, C. G., Abdenur, J. E., Grosmann, C. M., Kesari, A., Punetha, J., Quinlivan, R., Waddell, L. B., Young, H. K. & 16 othersWraige, E., Yau, S., Brodd, L., Feng, L., Sewry, C., Macarthur, D. G., North, K. N., Hoffman, E., Stemple, D. L., Hurles, M. E., Van Bokhoven, H., Campbell, K. P., Lefeber, D. J., Lin, Y. Y., Muntoni, F. & Wilson, S., 11 Jul 2013, In : American Journal of Human Genetics. 93, 1, p. 29-41 13 p.

Research output: Contribution to journalArticle

Open Access
Guanosine Diphosphate Mannose
Dystroglycans
Limb-Girdle Muscular Dystrophies
Glycosylation
Muscular Dystrophies
2012
133 Citations (Scopus)

Age-Related Changes in Thyroid Function: A Longitudinal Study of a Community-Based Cohort

Bremner, A., Feddema, P., Leedman, P., Brown, S. J., Beilby, J., Lim, E., Wilson, S., O'Leary, P. & Walsh, J., 2012, In : Journal of Clinical Endocrinology & Metabolism. 97, 5, p. 1554-1562

Research output: Contribution to journalArticle

Longitudinal Studies
Thyroid Gland
Aging of materials
Iodide Peroxidase
Antibodies
6 Citations (Scopus)

Copy number variation of the APC gene is associated with regulation of bone mineral density

Chew, S., Dastani, Z., Brown, S. J., Lewis, J., Dudbridge, F., Soranzo, N., Surdulescu, G. L., Richards, J. B., Spector, T. D. & Wilson, S., Nov 2012, In : Bone. 51, 5, p. 939-943

Research output: Contribution to journalArticle

APC Genes
Bone Density
Spine
Forearm
Single Nucleotide Polymorphism
600 Citations (Scopus)

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

Estrada, K., Styrkarsdottir, U., Evangelou, E., Hsu, Y-H., Duncan, E. L., Ntzani, E. E., Oei, L., Albagha, O. M. E., Amin, N., Kemp, J. P., Koller, D. L., Li, G., Liu, C-T., Minster, R. L., Moayyeri, A., Vandenput, L., Willner, D., Xiao, S-M., Yerges-Armstrong, L. M., Zheng, H-F. & 161 othersAlonso, N., Eriksson, J., Kammerer, C. M., Kaptoge, S. K., Leo, P. J., Thorleifsson, G., Wilson, S., Wilson, J. F., Aalto, V., Alen, M., Aragaki, A. K., Aspelund, T., Center, J. R., Dailiana, Z., Duggan, D. J., Garcia, M., Garcia-Giralt, N., Giroux, S., Hallmans, G., Hocking, L. J., Husted, L. B., Jameson, K. A., Khusainova, R., Kim, G. S., Kooperberg, C., Koromila, T., Kruk, M., Laaksonen, M., Lacroix, A. Z., Lee, S. H., Leung, P. C., Lewis, J., Masi, L., Mencej-Bedrac, S., Nguyen, T. V., Nogues, X., Patel, M. S., Prezelj, J., Rose, L. M., Scollen, S., Siggeirsdottir, K., Smith, A. V., Svensson, O., Trompet, S., Trummer, O., Van Schoor, N. M., Woo, J., Zhu, K., Balcells, S., Brandi, M. L., Buckley, B. M., Cheng, S., Christiansen, C., Cooper, C., Dedoussis, G., Ford, I., Frost, M., Goltzman, D., González-Macías, J., Kähönen, M., Karlsson, M., Khusnutdinova, E., Koh, J-M., Kollia, P., Langdahl, B. L., Leslie, W. D., Lips, P., Ljunggren, O., Lorenc, R. S., Marc, J., Mellström, D., Obermayer-Pietsch, B., Olmos, J. M., Pettersson-Kymmer, U., Reid, D. M., Riancho, J. A., Ridker, P. M., Rousseau, F., Lagboom, P. E. S., Tang, N. L. S., Urreizti, R., Van Hul, W., Viikari, J., Zarrabeitia, M. T., Aulchenko, Y. S., Castano-Betancourt, M., Grundberg, E., Herrera, L., Ingvarsson, T., Johannsdottir, H., Kwan, T., Li, R., Luben, R., Medina-Gómez, C., Th Palsson, S., Reppe, S., Rotter, J. I., Sigurdsson, G., Van Meurs, J. B. J., Verlaan, D., Williams, F. M. K., Wood, A. R., Zhou, Y., Gautvik, K. M., Pastinen, T., Raychaudhuri, S., Cauley, J. A., Chasman, D. I., Clark, G. R., Cummings, S. R., Danoy, P., Dennison, E. M., Eastell, R., Eisman, J. A., Gudnason, V., Hofman, A., Jackson, R. D., Jones, G., Jukema, J. W., Khaw, K-T., Lehtimäki, T., Liu, Y., Lorentzon, M., Mccloskey, E., Mitchell, B. D., Nandakumar, K., Nicholson, G. C., Oostra, B. A., Peacock, M., Pols, H. A. P., Prince, R., Raitakari, O., Reid, I. R., Robbins, J., Sambrook, P. N., Sham, P. C., Shuldiner, A. R., Tylavsky, F. A., Van Duijn, C. M., Wareham, N. J., Cupples, L. A., Econs, M. J., Evans, D. M., Harris, T. B., Kung, A. W. C., Psaty, B. M., Reeve, J., Spector, T. D., Streeten, E. A., Zillikens, M. C., Thorsteinsdottir, U., Ohlsson, C., Karasik, D., Richards, J. B., Brown, M. A., Stefansson, K., Uitterlinden, A. G., Ralston, S. H., Ioannidis, J. P. A., Kiel, D. P. & Rivadeneira, F., 2012, In : Nature Genetics. 44, 5, p. 491-503

Research output: Contribution to journalArticle

113 Citations (Scopus)

WNT16 influences bone mineral density, cortical bone thickness, bone strength, and osteoporotic fracture risk

Zheng, H-F., Tobias, J. H., Duncan, E., Evans, D. M., Eriksson, J., Paternoster, L., Yerges-Armstrong, L. M., Lehtimäki, T., Bergström, U., Kähönen, M., Leo, P. J., Raitakari, O., Laaksonen, M., Nicholson, G. C., Viikari, J., Ladouceur, M., Lyytikäinen, L-P., Medina-Gomez, C., Rivadeneira, F., Prince, R. & 35 othersSievanen, H., Leslie, W. D., Mellström, D., Eisman, J. A., Movérare-Skrtic, S., Goltzman, D., Hanley, D. A., Jones, G., St. Pourcain, B., Xiao, Y., Timpson, N. J., Smith, G. D., Reid, I. R., Ring, S. M., Sambrook, P. N., Karlsson, M., Dennison, E. M., Kemp, J. P., Danoy, P., Sayers, A., Wilson, S., Nethander, M., Mccloskey, E., Vandenput, L., Eastell, R., Liu, J., Spector, T., Mitchell, B. D., Streeten, E. A., Brommage, R., Pettersson-Kymmer, U., Brown, M. A., Ohlsson, C., Richards, J. B. & Lorentzon, M., 2012, In : PLoS Genetics. 8, 7, p. 13pp

Research output: Contribution to journalArticle

Open Access
2011
10 Citations (Scopus)

A Flexible Model for Association Analysis in Sibships with Missing Genotype Data

Dudbridge, F., Holmans, P. A. & Wilson, S., 2011, In : Annals of Human Genetics. 75, p. 428-438

Research output: Contribution to journalArticle

7 Citations (Scopus)
Open Access
54 Citations (Scopus)

Eight common genetic variants associated with serum dheas levels suggest a key role in ageing mechanisms

Zhai, G., Teumer, A., Stolk, L., Perry, J. R. B., Vandenput, L., Coviello, A. D., Koster, A., Bell, J. T., Bhasin, S., Eriksson, J., Eriksson, A., Ernst, F., Ferrucci, L., Frayling, T. M., Glass, D., Grundberg, E., Haring, R., Hedmanå, A. K., Hofman, A., Kiel, D. P. & 26 othersKroemer, H. K., Liu, Y., Lunetta, K. L., Maggio, M., Lorentzon, M., Mangino, M., Melzer, D., Miljkovic, I., Nica, A., Penninx, B. W. J. H., Vasan, R. S., Rivadeneira, F., Small, K. S., Soranzo, N., Uitterlinden, A. G., Völzke, H., Wilson, S., Xi, L., Zhuang, W. V., Harris, T. B., Murabito, J. M., Ohlsson, C., Murray, A., De Jong, F. H., Spector, T. D. & Wallaschofski, H., 2011, In : PLoS Genetics. 7, p. 10pp

Research output: Contribution to journalArticle

Open Access
14 Citations (Scopus)
20 Citations (Scopus)

α-Actinin-3 deficiency is associated with reduced bone mass in human and mouse

Yang, N., Schindeler, A., Mcdonald, M. M., Seto, J. T., Houweling, P. J., Lek, M., Hogath, M., Morse, A. R., Raftery, J. M., Balasuriya, D., Macarthur, D. G., Berman, Y., Quinlan, K. G. R., Eisman, J. A., Nguyen, T. V., Center, J. R., Prince, R., Wilson, S., Zhu, K. & Little, D. G., 2011, In : Bone. 49, p. 790-798

Research output: Contribution to journalArticle

2010
28 Citations (Scopus)

A Locus on Chromosome 1p36 Is Associated with Thyrotropin and Thyroid Function as Identified by Genome-wide Association Study

Panicker, V., Wilson, S., Walsh, J., Brent Richards, J., Brown, S. J., Beilby, J., Bremner, A., Surdulescu, G. L., Qweitin, E., Gillham-Nasenya, I., Soranzo, N., Lim, E., Fletcher, S. J. & Spector, T. D., 2010, In : American Journal of Human Genetics. 87, p. 430-435

Research output: Contribution to journalArticle

Open Access
132 Citations (Scopus)

An Integration of Genome-Wide Association Study and Gene Expression Profiling to Prioritize the Discovery of Novel Susceptibility Loci for Osteoporosis-Related Traits

Hsu, Y-H., Zillikens, M. C., Wilson, S., Farber, C. R., Demissie, S., Soranzo, N., Bianchi, E. N., Grundberg, E., Liang, L., Richards, B. J., Estrada, K., Zhou, Y., Van Nas, A., Moffatt, M. F., Zhai, G., Hofman, A., Van Meurs, J. B., Pols, H. A. P., Price, R. I., Nilsson, O. & 10 othersPastinen, T., Cupples, L. A., Lusis, A. J., Schadt, E. E., Ferrari, S., Uitterlinden, A. G., Rivadeneira, F., Spector, T. D., Karasik, D. & Kiel, D. P., 2010, In : PLoS Genetics. 6, 6, p. 1-16

Research output: Contribution to journalArticle

Open Access
15 Citations (Scopus)

Impact of neuritin 1 (NRN1) polymorphisms on fluid intelligence in schizophrenia

Chandler, D., Dragovic, M., Cooper, M., Badcock, J., Mullin, B., Faulkner, D., Wilson, S., Hallmayer, J., Howell, S., Rock, D., Palmer, L., Kalaydjieva, L. & Jablensky, A., 2010, In : American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics. 153B, 2, p. 428-437

Research output: Contribution to journalArticle

Intelligence
Schizophrenia
Single Nucleotide Polymorphism
Regression Analysis
Chromosomes, Human, Pair 6