Mendelian Inheritance in Man

Network medicine: a network-based approach to human disease

Barabási, A.-L., Gulbahce, N., & Loscalzo, J. (2011) · Nature Reviews Genetics · doi:10.1038/nrg2918 · Cited by 5,034

CASTp: computed atlas of surface topography of proteins with structural and topographical mapping of functionally annotated residues

Dundas, J., Ouyang, Z., Tseng, J., Binkowski, A., Turpaz, Y., & Liang, J. (2006) · Nucleic Acids Research · doi:10.1093/nar/gkl282 · Cited by 1,725

Absence of expression of the FMR-1 gene in fragile X syndrome

Pieretti, M., Zhang, F., Fu, Y.-H., Warren, S. T., Oostra, B. A., Caskey, C. T., & Nelson, D. L. (1991) · Cell · doi:10.1016/0092-8674(91)90125-i · Cited by 1,476

Metabolic biomarkers of increased oxidative stress and impaired methylation capacity in children with autism

James, S. J., Cutler, P., Melnyk, S., Jernigan, S., Janak, L., Gaylor, D. W., & Neubrander, J. A. (2004) · The American Journal of Clinical Nutrition · doi:10.1093/ajcn/80.6.1611 · Cited by 955

An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita

Zanaria, E., Muscatelli, F., Bardoni, B., Strom, T. M., Guioli, S., Guo, W., Lalli, E., Moser, C., Walker, A. P., McCabe, E. R. B., et al. (1994) · Nature · doi:10.1038/372635a0 · Cited by 858

An integrative approach to ortholog prediction for disease-focused and other functional studies

Hu, Y., Flockhart, I., Vinayagam, A., Bergwitz, C., Berger, B., Perrimon, N., & Mohr, S. E. (2011) · BMC Bioinformatics · doi:10.1186/1471-2105-12-357 · Cited by 848

The ADAMTS metalloproteinases

PORTER, S., CLARK, I. M., KEVORKIAN, L., & EDWARDS, D. R. (2005) · Biochemical Journal · doi:10.1042/bj20040424 · Cited by 779

Hereditary Anemias of the Mouse: A Review for Geneticists

Russell, E. S. (1979) · Advances in Genetics · doi:10.1016/s0065-2660(08)60549-0 · Cited by 766

Inhibition of HIF is necessary for tumor suppression by the von Hippel-Lindau protein

Kondo, K., Klco, J., Nakamura, E., Lechpammer, M., & Kaelin, W. G. (2002) · Cancer Cell · doi:10.1016/s1535-6108(02)00043-0 · Cited by 761

Lumican regulates collagen fibril assembly: skin fragility and corneal opacity in the absence of lumican

Chakravarti, S., Magnuson, T., Lass, J. H., Jepsen, K. J., LaMantia, C., & Carroll, H. (1998) · The Journal of Cell Biology · doi:10.1083/jcb.141.5.1277 · Cited by 731

Mechanisms of ectodermal organogenesis.

Pispa, J., & Thesleff, I. (2003) · Developmental Biology · doi:10.1016/s0012-1606(03)00325-7 · Cited by 499

Proline hydroxylation and gene expression

Kaelin, W. G. (2005) · Annual Review of Biochemistry · doi:10.1146/annurev.biochem.74.082803.133142 · Cited by 468

Malformation syndromes caused by disorders of cholesterol synthesis

Porter, F. D., & Herman, G. E. (2011) · Journal of Lipid Research · doi:10.1194/jlr.r009548 · Cited by 473

Malignant-Hyperthermia Susceptibility Is Associated with a Mutation of the a1-Subunit of the Human Dihydropyridine-Sensitive L-Type Voltage-Dependent Calcium-Channel Receptor in Skeletal Muscle

Monnier, N., Procaccio, V., Stieglitz, P., & Lunardi, J. (1997) · The American Journal of Human Genetics · doi:10.1086/515454 · Cited by 420

Integrin β4 mutations associated with junctional epidermolysis bullosa with pyloric atresia

Vidal, F., Aberdam, D., Miquel, C., Christiano, A. M., Pulkkinen, L., Uitto, J., Ortonne, J.-P., & Meneguzzi, G. (1995) · Nature Genetics · doi:10.1038/ng0695-229 · Cited by 386

von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF.

Hoffman, M. A. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.10.1019 · Cited by 382

Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency)

Dupont, B., Oberfield, S. E., Smithwick, E. M., Lee, T. D., & Levine, L. S. (1977) · The Lancet · doi:10.1016/s0140-6736(77)90362-2 · Cited by 371

X–linked spastic paraplegia and Pelizaeus–Merzbacher disease are allelic disorders at the proteolipid protein locus

Saugier-Veber, P., Munnich, A., Bonneau, D., Rozet, J.-M., Le Merrer, M., Gil, R., & Boespflug-Tanguy, O. (1994) · Nature Genetics · doi:10.1038/ng0394-257 · Cited by 359

Association Between Osteosarcoma and Deleterious Mutations in the RECQL4 Gene in Rothmund-Thomson Syndrome

Wang, L. L., Gannavarapu, A., Kozinetz, C. A., Levy, M. L., Lewis, R. A., Chintagumpala, M. M., Ruiz-Maldanado, R., Contreras-Ruiz, J., Cunniff, C., Erickson, R. P., et al. (2003) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/95.9.669 · Cited by 338

von Hippel-Lindau Disease

Kaelin, W. G. (2007) · Annual Review of Pathology: Mechanisms of Disease · doi:10.1146/annurev.pathol.2.010506.092049 · Cited by 336

EVOLUTIONARY MECHANISMS OF LIMB LOSS IN TETRAPODS

Lande, R. (1978) · Evolution · doi:10.1111/j.1558-5646.1978.tb01099.x · Cited by 258

Eleutherococcus senticosus (Rupr. & Maxim.) Maxim. (Araliaceae) as an adaptogen: a closer look

Davydov, M., & Krikorian, A. D. (2000) · Journal of Ethnopharmacology · doi:10.1016/s0378-8741(00)00181-1 · Cited by 256

Null mutations in human and mouse orthologs frequently result in different phenotypes

Liao, B.-Y., & Zhang, J. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0800387105 · Cited by 234

The Role of Receptor Activator of Nuclear Factor-κB (RANK)/RANK Ligand/Osteoprotegerin: Clinical Implications

Vega, D., Maalouf, N. M., & Sakhaee, K. (2007) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2007-0646 · Cited by 246

Human complex I deficiency: Clinical spectrum and involvement of oxygen free radicals in the pathogenicity of the defect

Robinson, B. H. (1998) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/s0005-2728(98)00033-4 · Cited by 223

VirusMINT: a viral protein interaction database

Chatr-aryamontri, A., Ceol, A., Peluso, D., Nardozza, A., Panni, S., Sacco, F., Tinti, M., Smolyar, A., Castagnoli, L., Vidal, M., et al. (2009) · Nucleic Acids Research · doi:10.1093/nar/gkn739 · Cited by 213

Cell Line Data Base: structure and recent improvements towards molecular authentication of human cell lines

Romano, P., Manniello, A., Aresu, O., Armento, M., Cesaro, M., & Parodi, B. (2009) · Nucleic Acids Research · doi:10.1093/nar/gkn730 · Cited by 147

Psychopathology in adopted-out children of alcoholics. The Stockholm Adoption Study

Cloninger, C. R., Bohman, M., Sigvardsson, S., & von Knorring, A.-L. (1985) · Recent Developments in Alcoholism · doi:10.1007/978-1-4615-7715-7_4 · Cited by 142

The effect of Mendelian disease on human health: A measurement

Costa, T., Scriver, C. R., Childs, B., Opitz, J. M., & Reynolds, J. F. (1985) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320210205 · Cited by 137

Tandem array of human visual pigment genes at Xq28

Vollrath, D., Nathans, J., & Davis, R. W. (1988) · Science · doi:10.1126/science.2837827 · Cited by 127

SOX Genes: Architects of Development

Prior, H. M., & Walter, M. A. (1996) · Molecular Medicine · doi:10.1007/bf03401900 · Cited by 103

Ectodysplasin, Edar and TNFRSF19 are expressed in complementary and overlapping patterns during mouse embryogenesis.

Pispa, J., Mikkola, M. L., Mustonen, T., & Thesleff, I. (2003) · Gene Expression Patterns · doi:10.1016/s1567-133x(03)00092-9 · Cited by 78

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

Ockeloen, C. W., Khandelwal, K. D., Dreesen, K., Ludwig, K. U., Sullivan, R., van Rooij, I. A. L. M., Thonissen, M., Swinnen, S., Phan, M., Conte, F., et al. (2016) · Genetics in Medicine · doi:10.1038/gim.2016.10 · Cited by 78

Quantitative genetics of human skin color

Byard, P. J. (1981) · American Journal of Physical Anthropology · doi:10.1002/ajpa.1330240506 · Cited by 57

Natural hair color and the incidence of endometriosis

Missmer, S. A., Spiegelman, D., Hankinson, S. E., Malspeis, S., Barbieri, R. L., & Hunter, D. J. (2006) · Fertility and Sterility · doi:10.1016/j.fertnstert.2005.12.008 · Cited by 38

The Ever Expanding Spinocerebellar Ataxias. Editorial

Matilla-Dueñas, A. (2012) · The Cerebellum · doi:10.1007/s12311-012-0376-4 · Cited by 31

Hereditary myopathy with lactic acidosis, succinate dehydrogenase and aconitase deficiency in northern Sweden: A genealogical study

Drugge, U., Holmberg, M., Holmgren, G., Almay, B. G., & Linderholm, H. (1995) · Journal of Medical Genetics · doi:10.1136/jmg.32.5.344 · Cited by 26

Molecular and cytologic studies of Ehlers‐Danlos syndrome type VIII

Biesecker, L. G., Erickson, R. P., Glover, T. W., & Bonadio, J. (1991) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320410305 · Cited by 22

Pelizaeus-Merzbacher disease: A novel mutation in the 5′-untranslated region of the proteolipid protein gene

Kawanishi, C., Sugiyama, N., Osaka, H., Inoue, K., Suzuki, K., Onishi, H., Yamada, Y., Nezu, A., Kimura, S., & Kosaka, K. (1996) · Human Mutation · doi:10.1002/(sici)1098-1004(1996)7:4<355::aid-humu10>3.0.co;2-1 · Cited by 7

Rodent Genetics, Models, and Genotyping Methods

Wildt, S. J., Brooks, A. I., & Russell, R. J. (2008) · Sourcebook of Models for Biomedical Research · doi:10.1007/978-1-59745-285-4_20 · Cited by 2