Strategies for multilocus linkage analysis in humans.

Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease

Goate, A., Chartier-Harlin, M.-C., Mullan, M., Brown, J., Crawford, F., Fidani, L., Giuffra, L., Haynes, A., Irving, N., James, L., et al. (1991) · Nature · doi:10.1038/349704a0 · Cited by 4,659

Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency

Brooks-Wilson, A., Marcil, M., Clee, S. M., Zhang, L.-H., Roomp, K., van Dam, M., Yu, L., Brewer, C., Collins, J. A., Molhuizen, H. O. F., et al. (1999) · Nature Genetics · doi:10.1038/11905 · Cited by 1,687

Early-onset Alzheimer's disease caused by mutations at codon 717 of the β-amyloid precursor protein gene

Chartier-Harlin, M.-C., Crawford, F., Houlden, H., Warren, A., Hughes, D., Fidani, L., Goate, A., Rossor, M., Roques, P., Hardy, J., et al. (1991) · Nature · doi:10.1038/353844a0 · Cited by 1,214

Linkage of a neurophysiological deficit in schizophrenia to a chromosome 15 locus

Freedman, R., Coon, H., Myles-Worsley, M., Orr-Urtreger, A., Olincy, A., Davis, A., Polymeropoulos, M., Holik, J., Hopkins, J., Hoff, M., et al. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.2.587 · Cited by 1,141

A functional polymorphism in the monoamine oxidase A gene promoter

Sabol, S. Z., Hu, S., & Hamer, D. (1998) · Human Genetics · doi:10.1007/s004390050816 · Cited by 1,079

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel ß1 subunit gene SCN1B

Wallace, R. H., Wang, D. W., Singh, R., Scheffer, I. E., George, A. L., Phillips, H. A., Saar, K., Reis, A., Johnson, E. W., Sutherland, G. R., et al. (1998) · Nature Genetics · doi:10.1038/1252 · Cited by 996

EIF2AK3, encoding translation initiation factor 2-α kinase 3, is mutated in patients with Wolcott-Rallison syndrome

Delépine, M., Nicolino, M., Barrett, T., Golamaully, M., Mark Lathrop, G., & Julier, C. (2000) · Nature Genetics · doi:10.1038/78085 · Cited by 813

A Homozygous CARD9 Mutation in a Family with Susceptibility to Fungal Infections

Glocker, E.-O., Hennigs, A., Nabavi, M., Schäffer, A. A., Woellner, C., Salzer, U., Pfeifer, D., Veelken, H., Warnatz, K., Tahami, F., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0810719 · Cited by 800

The Cardiac Mechanical Stretch Sensor Machinery Involves a Z Disc Complex that Is Defective in a Subset of Human Dilated Cardiomyopathy

Knöll, R., Hoshijima, M., Hoffman, H. M., Person, V., Lorenzen-Schmidt, I., Bang, M.-L., Hayashi, T., Shiga, N., Yasukawa, H., Schaper, W., et al. (2002) · Cell · doi:10.1016/s0092-8674(02)01226-6 · Cited by 786

Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage.

(1991) · Europe PMC (PubMed Central) · Cited by 758

The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

Yang, Y., Hentati, A., Deng, H.-X., Dabbagh, O., Sasaki, T., Hirano, M., Hung, W.-Y., Ouahchi, K., Yan, J., Azim, A. C., et al. (2001) · Nature Genetics · doi:10.1038/ng1001-160 · Cited by 743

Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy

Geller, D. S., Farhi, A., Pinkerton, N., Fradley, M., Moritz, M., Spitzer, A., Meinke, G., Tsai, F. T. F., Sigler, P. B., & Lifton, R. P. (2000) · Science · doi:10.1126/science.289.5476.119 · Cited by 675

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

Muenke, M., Schell, U., Hehr, A., Robin, N. H., Losken, H. W., Schinzel, A., Pulleyn, L. J., Rutland, P., Reardon, W., Malcolm, S., et al. (1994) · Nature Genetics · doi:10.1038/ng1194-269 · Cited by 614

Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease

Hara, K., Shiga, A., Fukutake, T., Nozaki, H., Miyashita, A., Yokoseki, A., Kawata, H., Koyama, A., Arima, K., Takahashi, T., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0801560 · Cited by 460

A Systematic Genetic Assessment of 1,433 Sequence Variants of Unknown Clinical Significance in the BRCA1 and BRCA2 Breast Cancer–Predisposition Genes

Easton, D. F., Deffenbaugh, A. M., Pruss, D., Frye, C., Wenstrup, R. J., Allen-Brady, K., Tavtigian, S. V., Monteiro, A. N. A., Iversen, E. S., Couch, F. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/521032 · Cited by 455

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

PREDISPOSING LOCUS FOR ALZHEIMER'S DISEASE ON CHROMOSOME 21

Goate, A., Owen, M., James, L., Mullan, M., Rossor, M., Haynes, A., Farrall, M., Lai, L. C., Roques, P., Williamson, R., et al. (1989) · The Lancet · doi:10.1016/s0140-6736(89)91725-x · Cited by 270

Autosomal Recessive Catecholamine- or Exercise-Induced Polymorphic Ventricular Tachycardia: Clinical Features and Assignment of the Disease Gene to Chromosome 1p13-21

Lahat, H., Eldar, M., Levy-Nissenbaum, E., Bahan, T., Friedman, E., Khoury, A., Lorber, A., Kastner, D. L., Goldman, B., & Pras, E. (2001) · Circulation · doi:10.1161/01.cir.103.23.2822 · Cited by 266

Genetic localization of a locus controlling the intensity of infection by Schistosoma mansoni on chromosome 5q31-q33

Marquet, S., Abel, L., Hillaire, D., Dessein, H., Kalil, J., Feingold, J., Weissenbach, J., & Dessein, A. J. (1996) · Nature Genetics · doi:10.1038/ng1096-181 · Cited by 251

Age-related Macular Degeneration: Clinical Features in a Large Family and Linkage to Chromosome 1q

Klein, M. L. (1998) · Archives of Ophthalmology · doi:10.1001/archopht.116.8.1082 · Cited by 252

Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy

Garcia, C. C., Blair, H. J., Seager, M., Coulthard, A., Tennant, S., Buddles, M., Curtis, A., & Goodship, J. A. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2003.013680 · Cited by 205

Evidence for Linkage of Spelling Disability to Chromosome 15

Schulte-Körne, G., Grimm, T., Nöthen, M. M., Müller-Myhsok, B., Cichon, S., Vogt, I. R., Propping, P., & Remschmidt, H. (1998) · The American Journal of Human Genetics · doi:10.1086/301919 · Cited by 171

Serial Changes of Cerebral Glucose Metabolism and Caudate Size in Persons at Risk for Huntington's Disease

Grafton, S. T., Mazziotta, J. C., Pahl, J. J., George-Hyslop, P. S., Haines, J. L., Gusella, J., Hoffman, J. M., Baxter, L. R., & Phelps, M. E. (1992) · Archives of Neurology · doi:10.1001/archneur.1992.00530350075022 · Cited by 157

Peutz-Jeghers syndrome: Confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4

Mehenni, H., Blouin, J.-L., Radhakrishna, U., Bhardwaj, S. S., Bhardwaj, K., Dixit, V. B., Richards, K. F., Bermejo-Fenoll, A., Silva Leal, A., Raval, R. C., et al. (1997) · The American Journal of Human Genetics · doi:10.1086/301644 · Cited by 147

A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus

Weiler, T., Greenberg, C. R., Zelinski, T., Nylen, E., Coghlan, G., Crumley, M. J., Fujiwara, T. M., Morgan, K., & Wrogemann, K. (1998) · The American Journal of Human Genetics · doi:10.1086/301925 · Cited by 115

The Aromatase Excess Syndrome Is Associated with Feminization of Both Sexes and Autosomal Dominant Transmission of Aberrant P450 Aromatase Gene Transcription

Stratakis, C. A. (1998) · Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.83.4.1348 · Cited by 115

The Dwarfs of Sindh: severe growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene.

Baumann, G., & Maheshwari, H. (1997) · Acta Paediatrica · doi:10.1111/j.1651-2227.1997.tb18366.x · Cited by 111

Evidence for a Nonallelic Heterogeneity of Epidermodysplasia Verruciformis with Two Susceptibility Loci Mapped to Chromosome Regions 2p21–p24 and 17q25

Ramoz, N., Favre, M., Orth, G., Taïeb, A., Rueda, L.-A., Montoya, L.-S., & Bouadjar, B. (2000) · Journal of Investigative Dermatology · doi:10.1046/j.1523-1747.2000.00996.x · Cited by 98

Lack of an association of apolipoprotein E gene polymorphisms with familial age-related macular degeneration

Schultz, D. W. (2003) · Archives of Ophthalmology · doi:10.1001/archopht.121.5.679 · Cited by 76

Full results of the genome-wide scan which localises a locus controlling the intensity of infection by Schistosoma mansoni on chromosome 5q31-q33

Marquet, S., Abel, L., Hillaire, D., & Dessein, A. (1999) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200243 · Cited by 65

Ehlers-Danlos Syndrome with Severe Early-Onset Periodontal Disease (EDS-VIII) Is a Distinct, Heterogeneous Disorder with One Predisposition Gene at Chromosome 12p13

Rahman, N., Dunstan, M., Teare, M. D., Hanks, S., Douglas, J., Coleman, K., Bottomly, W. E., Campbell, M. E., Berglund, B., Nordenskjöld, M., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/376416 · Cited by 55

Correcting for multiple analyses in genomewide linkage studies

CAMP, N. J., & FARNHAM, J. M. (2001) · Annals of Human Genetics · doi:10.1046/j.1469-1809.2001.6560577.x · Cited by 50

White spotting in the domestic cat (Felis catus) maps near KIT on feline chromosome B1

Cooper, M. P., Fretwell, N., Bailey, S. J., & Lyons, L. A. (2006) · Animal Genetics · doi:10.1111/j.1365-2052.2005.01389.x · Cited by 44

Incomplete dominance of type III hyperlipoproteinemia is associated with the rare apolipoprotein E2 (Arg136 → Ser) variant in multigenerational pedigree studies

Pocovi, M., Cenarro, A., Civeir, F., Myers, R. H., Casao, E., Esteban, M., & Ordovas, J. M. (1996) · Atherosclerosis · doi:10.1016/0021-9150(95)06745-0 · Cited by 42

Association of DRD2 variants and Gilles de la Tourette syndrome in a family-based sample from a South American population isolate

Herzberg, I., Valencia-Duarte, A. V., Kay, V. A., White, D. J., Müller, H., Rivas, I. C., Mesa, S. C., Cuartas, M., García, J., Bedoya, G., et al. (2010) · Psychiatric Genetics · doi:10.1097/ypg.0b013e32833a215a · Cited by 36

Evidence for three loci modifying age‐at‐onset of Alzheimer's disease in early‐onset PSEN2 families

Marchani, E. E., Bird, T. D., Steinbart, E. J., Rosenthal, E., Yu, C., Schellenberg, G. D., & Wijsman, E. M. (2010) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.31072 · Cited by 29