Allegro, a new computer program for multipoint linkage analysis

MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes

Li, Y., Willer, C. J., Ding, J., Scheet, P., & Abecasis, G. R. (2010) · Genetic Epidemiology · doi:10.1002/gepi.20533 · Cited by 1,843

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

The Autism Genome Project Consortium (2007) · Nature Genetics · doi:10.1038/ng1985 · Cited by 1,402

Genetics of gene expression and its effect on disease

Emilsson, V., Thorleifsson, G., Zhang, B., Leonardson, A. S., Zink, F., Zhu, J., Carlson, S., Helgason, A., Walters, G. B., Gunnarsdottir, S., et al. (2008) · Nature · doi:10.1038/nature06758 · Cited by 1,296

Genotype Imputation

Li, Y., Willer, C., Sanna, S., & Abecasis, G. (2009) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.9.081307.164242 · Cited by 990

The genetics of depression: A review

Levinson, D. F. (2006) · Biological Psychiatry · doi:10.1016/j.biopsych.2005.08.024 · Cited by 855

A common variant associated with prostate cancer in European and African populations

Amundadottir, L. T., Sulem, P., Gudmundsson, J., Helgason, A., Baker, A., Agnarsson, B. A., Sigurdsson, A., Benediktsdottir, K. R., Cazier, J.-B., Sainz, J., et al. (2006) · Nature Genetics · doi:10.1038/ng1808 · Cited by 787

A General Approach for Haplotype Phasing across the Full Spectrum of Relatedness

O'Connell, J., Gurdasani, D., Delaneau, O., Pirastu, N., Ulivi, S., Cocca, M., Traglia, M., Huang, J., Huffman, J. E., Rudan, I., et al. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004234 · Cited by 593

Insulin gene mutations as a cause of permanent neonatal diabetes

Støy, J., Edghill, E. L., Flanagan, S. E., Ye, H., Paz, V. P., Pluzhnikov, A., Below, J. E., Hayes, M. G., Cox, N. J., Lipkind, G. M., et al. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0707291104 · Cited by 564

Mutation of TDP1, encoding a topoisomerase I–dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

Takashima, H., Boerkoel, C. F., John, J., Saifi, G. M., Salih, M. A. M., Armstrong, D., Mao, Y., Quiocho, F. A., Roa, B. B., Nakagawa, M., et al. (2002) · Nature Genetics · doi:10.1038/ng987 · Cited by 522

Susceptibility genes for age-related maculopathy on chromosome 10q26

Jakobsdottir, J., Conley, Y. P., Weeks, D. E., Mah, T. S., Ferrell, R. E., & Gorin, M. B. (2005) · The American Journal of Human Genetics · doi:10.1086/444437 · Cited by 470

Allelic heterogeneity at the serotonin transporter locus (SLC6A4) confers susceptibility to autism and rigid-compulsive behaviors

Sutcliffe, J. S., Delahanty, R. J., Prasad, H. C., McCauley, J. L., Han, Q., Jiang, L., Li, C., Folstein, S. E., & Blakely, R. D. (2005) · The American Journal of Human Genetics · doi:10.1086/432648 · Cited by 392

Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation

Pasutto, F., Sticht, H., Hammersen, G., Gillessen-Kaesbach, G., FitzPatrick, D. R., Nürnberg, G., Brasch, F., Schirmer-Zimmermann, H., Tolmie, J. L., Chitayat, D., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/512203 · Cited by 361

A genomewide screen for autism susceptibility loci

Liu, J., Nyholt, D. R., Magnussen, P., Parano, E., Pavone, P., Geschwind, D., Lord, C., Iversen, P., Hoh, J., Autism Genetic Resource Exchange Consortium, T., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/321980 · Cited by 309

Untitled work

Concannon (2005) · doi:10.2337/diabetes.54.10.2995 · Cited by 257

Linkage of Osteoporosis to Chromosome 20p12 and Association to BMP2

Styrkarsdottir, U., Cazier, J.-B., Kong, A., Rolfsson, O., Larsen, H., Bjarnadottir, E., Johannsdottir, V. D., Sigurdardottir, M. S., Bagger, Y., Christiansen, C., et al. (2003) · PLoS Biology · doi:10.1371/journal.pbio.0000069 · Cited by 248

Meta-analysis of genome scans of age-related macular degeneration

Fisher, S. A., Abecasis, G. R., Yashar, B. M., Zareparsi, S., Swaroop, A., Iyengar, S. K., Klein, B. E. K., Klein, R., Lee, K. E., Majewski, J., et al. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi230 · Cited by 239

Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning

Bae, B.-I., Tietjen, I., Atabay, K. D., Evrony, G. D., Johnson, M. B., Asare, E., Wang, P. P., Murayama, A. Y., Im, K., Lisgo, S. N., et al. (2014) · Science · doi:10.1126/science.1244392 · Cited by 229

Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay

Kim, M., Sandford, E., Gatica, D., Qiu, Y., Liu, X., Zheng, Y., Schulman, B. A., Xu, J., Semple, I., Ro, S.-H., et al. (2016) · eLife · doi:10.7554/elife.12245 · Cited by 225

Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13

Giunta, C., Elçioglu, N. H., Albrecht, B., Eich, G., Chambaz, C., Janecke, A. R., Yeowell, H., Weis, M., Eyre, D. R., Kraenzlin, M., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.05.001 · Cited by 218

Age-related macular degeneration–a genome scan in extended families

Majewski, J., Schultz, D. W., Weleber, R. G., Schain, M. B., Edwards, A. O., Matise, T. C., Acott, T. S., Ott, J., & Klein, M. L. (2003) · The American Journal of Human Genetics · doi:10.1086/377701 · Cited by 201

Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions

Weeks, D. E., Conley, Y. P., Tsai, H.-J., Mah, T. S., Schmidt, S., Postel, E. A., Agarwal, A., Haines, J. L., Pericak-Vance, M. A., Rosenfeld, P. J., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/422476 · Cited by 195

Functional Candidate Genes in Age-Related Macular Degeneration: Significant Association with VEGF,VLDLR, and LRP6

Haines, J. L., Schnetz-Boutaud, N., Schmidt, S., Scott, W. K., Agarwal, A., Postel, E. A., Olson, L., Kenealy, S. J., Hauser, M., Gilbert, J. R., et al. (2006) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.05-0116 · Cited by 189

Genome-wide and Ordered-Subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlates

McCauley, J. L., Li, C., Jiang, L., Olson, L. M., Crockett, G., Gainer, K., Folstein, S. E., Haines, J. L., & Sutcliffe, J. S. (2005) · BMC Medical Genetics · doi:10.1186/1471-2350-6-1 · Cited by 168

Age-related maculopathy: an expanded genome-wide scan with evidence of susceptibility loci within the 1q31 and 17q25 regions

Weeks, D. E., Conley, Y. P., Tsai, H.-J., Mah, T. S., Rosenfeld, P. J., Paul, T. O., Eller, A. W., Morse, L. S., Dailey, J. P., Ferrell, R. E., et al. (2001) · American Journal of Ophthalmology · doi:10.1016/s0002-9394(01)01214-4 · Cited by 140

Evolutionary Proteomics Uncovers Ancient Associations of Cilia with Signaling Pathways

Sigg, M. A., Menchen, T., Lee, C., Johnson, J., Jungnickel, M. K., Choksi, S. P., Garcia, G., Busengdal, H., Dougherty, G. W., Pennekamp, P., et al. (2017) · Developmental Cell · doi:10.1016/j.devcel.2017.11.014 · Cited by 130

Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure

Beetz, C., Johnson, A., Schuh, A. L., Thakur, S., Varga, R.-E., Fothergill, T., Hertel, N., Bomba-Warczak, E., Thiele, H., Nürnberg, G., et al. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1217197110 · Cited by 106

Y Chromosome Lineage- and Village-Specific Genes on Chromosomes 1p22 and 6q27 Control Visceral Leishmaniasis in Sudan

Miller, E. N., Fadl, M., Mohamed, H. S., Elzein, A., Jamieson, S. E., Cordell, H. J., Peacock, C. S., Fakiola, M., Raju, M., Khalil, E. A., et al. (2007) · PLoS Genetics · doi:10.1371/journal.pgen.0030071 · Cited by 72

Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure

Bendon, C. L., Fenwick, A. L., Hurst, J. A., Nürnberg, G., Nürnberg, P., Wall, S. A., Wilkie, A. O., & Johnson, D. (2012) · BMC Medical Genetics · doi:10.1186/1471-2350-13-104 · Cited by 28