Beyond Mendel: an evolving view of human genetic disease transmission

Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA

Riordan, J. R., Rommens, J. M., Kerem, B.-S., Alon, N., Rozmahel, R., Grzelczak, Z., Zielenski, J., Lok, S., Plavsic, N., Chou, J.-L., et al. (1989) · Science · doi:10.1126/science.2475911 · Cited by 7,418

A Dominant Mutation That Predisposes to Multiple Intestinal Neoplasia in the Mouse

Moser, A. R., Pitot, H. C., & Dove, W. F. (1990) · Science · doi:10.1126/science.2296722 · Cited by 1,591

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

Boute, N., Gribouval, O., Roselli, S., Benessy, F., Lee, H., Fuchshuber, A., Dahan, K., Gubler, M.-C., Niaudet, P., & Antignac, C. (2000) · Nature Genetics · doi:10.1038/74166 · Cited by 1,444

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophy

Allikmets, R., Singh, N., Sun, H., Shroyer, N. F., Hutchinson, A., Chidambaram, A., Gerrard, B., Baird, L., Stauffer, D., Peiffer, A., et al. (1997) · Nature Genetics · doi:10.1038/ng0397-236 · Cited by 1,435 · cited 1×

Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns

Rivolta, C. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.10.1219 · Cited by 296

Biochemical defects in ABCR protein variants associated with human retinopathies

Sun, H., Smallwood, P. M., & Nathans, J. (2000) · Nature Genetics · doi:10.1038/79994 · Cited by 203

Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

Lupski, J. R., Reid, J. G., Gonzaga-Jauregui, C., Rio Deiros, D., Chen, D. C. Y., Nazareth, L., Bainbridge, M., Dinh, H., Jing, C., Wheeler, D. A., et al. (2010) · New England Journal of Medicine · doi:10.1056/nejmoa0908094 · Cited by 759

Systematic mapping of genetic interactions in Caenorhabditis elegans identifies common modifiers of diverse signaling pathways

Lehner, B., Crombie, C., Tischler, J., Fortunato, A., & Fraser, A. G. (2006) · Nature Genetics · doi:10.1038/ng1844 · Cited by 502

Cryptic genetic variation: evolution's hidden substrate

Paaby, A. B., & Rockman, M. V. (2014) · Nature Reviews Genetics · doi:10.1038/nrg3688 · Cited by 500

Genetic architecture: the shape of the genetic contribution to human traits and disease

Timpson, N. J., Greenwood, C. M. T., Soranzo, N., Lawson, D. J., & Richards, J. B. (2018) · Nature Reviews Genetics · doi:10.1038/nrg.2017.101 · Cited by 434

Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

Pitteloud, N., Quinton, R., Pearce, S., Raivio, T., Acierno, J., Dwyer, A., Plummer, L., Hughes, V., Seminara, S., Cheng, Y.-Z., et al. (2007) · Journal of Clinical Investigation · doi:10.1172/jci29884 · Cited by 379

Mutations in the genes encoding 11β-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency

Draper, N., Walker, E. A., Bujalska, I. J., Tomlinson, J. W., Chalder, S. M., Arlt, W., Lavery, G. G., Bedendo, O., Ray, D. W., Laing, I., et al. (2003) · Nature Genetics · doi:10.1038/ng1214 · Cited by 285

Combining biological networks to predict genetic interactions

Wong, S. L., Zhang, L. V., Tong, A. H. Y., Li, Z., Goldberg, D. S., King, O. D., Lesage, G., Vidal, M., Andrews, B., Bussey, H., et al. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0406614101 · Cited by 245

A Nondegenerate Code of Deleterious Variants in Mendelian Loci Contributes to Complex Disease Risk

Blair, D. R., Lyttle, C. S., Mortensen, J. M., Bearden, C. F., Jensen, A. B., Khiabanian, H., Melamed, R., Rabadan, R., Bernstam, E. V., Brunak, S., et al. (2013) · Cell · doi:10.1016/j.cell.2013.08.030 · Cited by 215

The genetics of neurodevelopmental disease

Mitchell, K. J. (2011) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2010.08.009 · Cited by 164

Fitness Trade-Offs and Environmentally Induced Mutation Buffering in Isogenic C. elegans

Casanueva, M. O., Burga, A., & Lehner, B. (2012) · Science · doi:10.1126/science.1213491 · Cited by 146

The recent genetics of hypogonadotrophic hypogonadism—novel insights and new questions

Semple, R. K., & Topaloglu, A. K. (2010) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2009.03687.x · Cited by 117

Heritability of Regional Brain Volumes in Large-Scale Neuroimaging and Genetic Studies

Zhao, B., Ibrahim, J. G., Li, Y., Li, T., Wang, Y., Shan, Y., Zhu, Z., Zhou, F., Zhang, J., Huang, C., et al. (2019) · Cerebral Cortex · doi:10.1093/cercor/bhy157 · Cited by 58

Microtubule transport defects in neurological and ciliary disease

Gerdes, J. M., & Katsanis, N. (2005) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-005-5007-5 · Cited by 51