Genetics of population isolates

THE GENETICAL STRUCTURE OF POPULATIONS

Wright, S. (1949) · Annals of Eugenics · doi:10.1111/j.1469-1809.1949.tb02451.x · Cited by 6,729 · see citing works

Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome

Kestilä, M., Lenkkeri, U., Männikkö, M., Lamerdin, J., McCready, P., Putaala, H., Ruotsalainen, V., Morita, T., Nissinen, M., Herva, R., et al. (1998) · Molecular Cell · doi:10.1016/s1097-2765(00)80057-x · Cited by 1,866 · see citing works

Positional cloning of the APECED gene

Nagamine, K., Peterson, P., Scott, H. S., Kudoh, J., Minoshima, S., Heino, M., Krohn, K. J. E., Lalioti, M. D., Mullis, P. E., Antonarakis, S. E., et al. (1997) · Nature Genetics · doi:10.1038/ng1297-393 · Cited by 1,439 · see citing works

Prospects for whole-genome linkage disequilibrium mapping of common disease genes

Kruglyak, L. (1999) · Nature Genetics · doi:10.1038/9642 · Cited by 1,416 · see citing works

Molecular systematics

Pääbo, S. (1991) · Trends in Genetics · doi:10.1016/0168-9525(91)90328-n · Cited by 1,387 · see citing works

The Genetics of Human Populations

J., A., Cavali-Sforza, L. L., & Bodmer, W. F. (1972) · Population · doi:10.2307/1529365 · Cited by 1,212 · see citing works

Identification of a variant associated with adult-type hypolactasia

Enattah, N. S., Sahi, T., Savilahti, E., Terwilliger, J. D., Peltonen, L., & Järvelä, I. E. (2002) · Nature Genetics · doi:10.1038/ng826 · Cited by 1,029 · see citing works

Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure

Aittomäki, K., Dieguez-Lucena, J. L., Pakarinen, P., Sistonen, P., Tapanainen, J. S., Gromoll, J., Kaskikari, R., Sankila, E.-M. K., Lehväslaiho, H., Reyes‐Engel, A., et al. (1995) · Cell · doi:10.1016/0092-8674(95)90275-9 · Cited by 975 · see citing works

The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping

Hästbacka, J., de la Chapelle, A., Mahtani, M. M., Clines, G., Reeve-Daly, M. P., Daly, M., Hamilton, B. A., Kusumi, K., Trivedi, B., Weaver, A., et al. (1994) · Cell · doi:10.1016/0092-8674(94)90281-x · Cited by 744 · see citing works

Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

Vesa, J., Hellsten, E., Verkruyse, L. A., Camp, L. A., Rapola, J., Santavuori, P., Hofmann, S. L., & Peltonen, L. (1995) · Nature · doi:10.1038/376584a0 · Cited by 736 · see citing works

A Guide to the World’s Languages

Ruhlen, M. (1987) · Stanford University Press eBooks · doi:10.1515/9781503621336 · Cited by 633 · see citing works

VARIANCE OF GENE FREQUENCIES

Cockerham, C. C. (1969) · Evolution · doi:10.1111/j.1558-5646.1969.tb03496.x · Cited by 595 · see citing works

Tissue-Specific Expression of a Splicing Mutation in the Gene Causes Familial Dysautonomia

Slaugenhaupt, S. A., Blumenfeld, A., Gill, S., Leyne, M., Mull, J., Cuajungco, M. P., Liebert, C. B., Chadwick, B. P., Idelson, M., Reznik, L., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/318810 · Cited by 591 · see citing works

Mutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1)

Pennacchio, L. A., Lehesjoki, A., Stone, N., Willour, V. L., Virtaneva, K. I., Miao, J., D’Amato, E., Ramirez, L., Faham, M., Koskiniemi, M., et al. (1996) · Science · doi:10.1126/science.271.5256.1731 · Cited by 541 · see citing works

The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy

Eisenberg, I., Avidan, N., Potikha, T., Hochner, H., Chen, M., Olender, T., Barash, M., Shemesh, M., Sadeh, M., Grabov-Nardini, G., et al. (2001) · Nature Genetics · doi:10.1038/ng718 · Cited by 517 · see citing works

Mutations in the RNA Component of RNase MRP Cause a Pleiotropic Human Disease, Cartilage-Hair Hypoplasia

Ridanpää, M., van Eenennaam, H., Pelin, K., Chadwick, R. B., Johnson, C. K. H., Yuan, B., vanVenrooij, W. J., Pruijn, G. J. M., Salmela, R., Rockas, S., et al. (2001) · Cell · doi:10.1016/s0092-8674(01)00205-7 · Cited by 511 · see citing works

An apportionment of human DNA diversity

Barbujani, G., Magagni, A., Minch, E., & Cavalli-Sforza, L. L. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.9.4516 · Cited by 498 · see citing works

Positional cloning of the gene associated with X-linked juvenile retinoschisis

Sauer, C. G., Gehrig, A., Warneke-Wittstock, R., Marquardt, A., Ewing, C. C., Gibson, A., Lorenz, B., Jurklies, B., & Weber, B. H. F. (1997) · Nature Genetics · doi:10.1038/ng1097-164 · Cited by 497 · see citing works

Localization of a Novel Locus for Autosomal Recessive Early-Onset Parkinsonism, PARK6, on Human Chromosome 1p35-p36

Valente, E. M., Bentivoglio, A. R., Dixon, P. H., Ferraris, A., Ialongo, T., Frontali, M., Albanese, A., & Wood, N. W. (2001) · The American Journal of Human Genetics · doi:10.1086/319522 · Cited by 493 · see citing works

Molecular genetics of the Finnishdisease heritage

Peltonen, L. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.10.1913 · Cited by 488 · see citing works

Use of population isolates for mapping complex traits

Peltonen, L., Palotie, A. V., & Lange, K. L. (2000) · Nature Reviews Genetics · doi:10.1038/35042049 · Cited by 455 · see citing works

β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12

Lim, L. E., Duclos, F. J., Broux, O., Bourg, N., Sunada, Y., Allamand, V., Meyer, J., Richard, I., Moomaw, C. R., Slaughter, C. A., et al. (1995) · Nature Genetics · doi:10.1038/ng1195-257 · Cited by 445 · see citing works

Re-evaluation of the linkage relationship between chromosome 11p loci and the gene for bipolar affective disorder in the Old Order Amish

Kelsoe, J. R., Ginns, E. I., Egeland, J. A., Gerhard, D. S., Goldstein, A. M., Bale, S. J., Pauls, D. L., Long, R. T. L., Kídd, K. K., Conte, G. L., et al. (1989) · Nature · doi:10.1038/342238a0 · Cited by 440 · see citing works

Linkage Disequilibrium, Gene Trees and Selfing: An Ancestral Recombination Graph With Partial Self-Fertilization

Nordborg, M. (2000) · Genetics · doi:10.1093/genetics/154.2.923 · Cited by 430 · see citing works

Familial Dysautonomia Is Caused by Mutations of the IKAP Gene

Anderson, S. L., Coli, R., Daly, I., Kichula, E. A., Rork, M. J., Volpi, S. A., Ekstein, J., & Rubin, B. Y. (2001) · The American Journal of Human Genetics · doi:10.1086/318808 · Cited by 429 · see citing works

Mutations of the Down–regulated in adenoma (DRA) gene cause congenital chloride diarrhoea

Höglund, P., Haila, S., Socha, J., Tomaszewski, L., Saarialho‐Kere, U., Karjalainen‐Lindsberg, M., Airola, K., Holmberg, C., de la Chapelle, A., & Kere, J. (1996) · Nature Genetics · doi:10.1038/ng1196-316 · Cited by 426 · see citing works

Investigations into the effect of diet on modern human hair isotopic values

O’Connell, T. C., & Hedges, R. E. M. (1999) · American Journal of Physical Anthropology · doi:10.1002/(sici)1096-8644(199904)108:4 · Cited by 421 · see citing works

Dissecting Human Disease in the Postgenomic Era

Peltonen, L., & McKusick, V. A. (2001) · Science · doi:10.1126/science.291.5507.1224 · Cited by 414 · see citing works

Drift, admixture, and selection in human evolution: a study with DNA polymorphisms.

Bowcock, A. M., Kidd, J. R., Mountain, J. L., Hebert, J. M., Carotenuto, L., Kídd, K. K., & Cavalli-Sforza, L. L. (1991) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.88.3.839 · Cited by 414 · see citing works

Admixture as a tool for finding linked genes and detecting that difference from allelic association between loci.

Chakraborty, R., & Weiss, K. (1988) · Proceedings of the National Academy of Sciences of the United States of America · doi:10.1073/pnas.85.23.9119 · Cited by 404 · see citing works

Genetic variability maintained in a finite population due to mutational production of neutral and nearly neutral isoalleles

Kimura, M. (1968) · Genetics Research · doi:10.1017/s0016672300011459 · Cited by 390 · see citing works

Breeding systems and genome evolution

Charlesworth, D., & Wright, S. (2001) · Current Opinion in Genetics & Development · doi:10.1016/s0959-437x(00)00254-9 · Cited by 385 · see citing works

Genome-wide search for asthma susceptibility loci in a founder population. The Collaborative Study on the Genetics of Asthma

Ober, C. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.9.1393 · Cited by 382 · see citing works

A second-generation genomewide screen for asthma-susceptibility alleles in a founder population.

Ober, C., Tsalenko, A., Parry, R., & Cox, N. (2000) · American Journal of Human Genetics · doi:10.1016/s0002-9297(07)62946-2 · Cited by 374 · see citing works

Disease gene mapping in isolated human populations: the example of Finland.

de la Chapelle, A. (1993) · Journal of Medical Genetics · doi:10.1136/jmg.30.10.857 · Cited by 356 · see citing works

Clinical Features of Early-Onset Alzheimer Disease in a Large Kindred With an E280A Presenilin-1 Mutation

Lopera, F. (1997) · JAMA: The Journal of the American Medical Association · doi:10.1001/jama.1997.03540340027028 · Cited by 351 · see citing works

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

Ruiz‐Pérez, V. L., Ide, S. E., Strom, T. M., Lorenz, B., Wilson, D. I., Woods‐Townsend, K., King, L. M., Francomano, C. A., Freisinger, P., Spranger, S., et al. (2000) · Nature Genetics · doi:10.1038/73508 · Cited by 339 · see citing works

A Novel Nemaline Myopathy in the Amish Caused by a Mutation in Troponin T1

Johnston, J. J., Kelley, R. I., Crawford, T. O., Morton, D. H., Agarwala, R., Koch, T., Schäffer, A. A., Francomano, C. A., & Biesecker, L. G. (2000) · The American Journal of Human Genetics · doi:10.1086/303089 · Cited by 328 · see citing works

Chromosome 1 loci in Finnish schizophrenia families

Ekelund, J. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.15.1611 · Cited by 313 · see citing works

Evolutionary relationships of human populations on a global scale.

Nei, M., & Roychoudhury, A. K. (1993) · Molecular Biology and Evolution · doi:10.1093/oxfordjournals.molbev.a040059 · Cited by 310 · see citing works

Strong Amerind/White Sex Bias and a Possible Sephardic Contribution among the Founders of a Population in Northwest Colombia

Carvajal‐Carmona, L. G., Soto‐Calderón, I. D., Pineda-Trujillo, N., Ortíz-Barrientos, D., Duque, C., Ospina-Duque, J., McCarthy, M. I., Montoya, P., Alvarez, V. M., Bedoya, G., et al. (2000) · The American Journal of Human Genetics · doi:10.1016/s0002-9297(07)62956-5 · Cited by 310 · see citing works

CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis

Savukoski, M., Klockars, T., Holmberg, V., Santavuori, P., Lander, E. S., & Peltonen, L. (1998) · Nature Genetics · doi:10.1038/975 · Cited by 301 · see citing works

The neutral theory of molecular evolution: A review of recent evidence

KIMURA, M. (1991) · The Japanese Journal of Genetics · doi:10.1266/jjg.66.367 · Cited by 295 · see citing works

A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases

Verheijen, F. W., Verbeek, E., Aula, N., Beerens, C. E. M. T., Havelaar, A. C., Joosse, M., Peltonen, L., Aula, P., GALJAARD, H., van der Spek, P. J., et al. (1999) · Nature Genetics · doi:10.1038/70585 · Cited by 294 · see citing works

Identification of a Novel Common Genetic Risk Factor for Lumbar Disk Disease

Paassilta, P. (2001) · JAMA · doi:10.1001/jama.285.14.1843 · Cited by 286 · see citing works

Polygenic inheritance of Tourette syndrome, stuttering, attention deficit hyperactivity, conduct, and oppositional defiant disorder: the additive and subtractive effect of the three dopaminergic genes--DRD2, D beta H, and DAT1.

Comings, D., Wu, S., Chiu, C., Ring, R., Gade, R., Ahn, C., MacMurray, J. P., Dietz, G., & Muhleman, D. (1996) · American journal of medical genetics · doi:10.1002/(sici)1096-8628(19960531)67:3 · Cited by 283 · see citing works

A Genomewide Screen for Schizophrenia Genes in an Isolated Finnish Subpopulation, Suggesting Multiple Susceptibility Loci

Hovatta, I., Varilo, T., Suvisaari, J., Terwilliger, J. D., Ollikainen, V., Arajärvi, R., Juvonen, H., Kokko-Sahin, M.-L., Väisänen, L., Mannila, H., et al. (1999) · The American Journal of Human Genetics · doi:10.1086/302567 · Cited by 281 · see citing works

Linkage of familial combined hyperlipidaemia to chromosome 1q21–q23

Pajukanta, P., Nuotio, I. O., Terwilliger, J. D., Porkka, K., Ylitalo, K., Pihlajamäki, J., Suomalainen, A. J., Syvänen, A., Lehtimäki, T. J., Viikari, J. S. A., et al. (1998) · Nature Genetics · doi:10.1038/ng0498-369 · Cited by 266 · see citing works

The Finnish population structure A genetic and genealogical study

Nevanlinna, H. R. (2009) · Hereditas · doi:10.1111/j.1601-5223.1972.tb01021.x · Cited by 261 · see citing works

Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation

Lopera, F. J. (1997) · JAMA · doi:10.1001/jama.277.10.793 · Cited by 255 · see citing works

Hereditary diseases in Finland; rare flora in rare soul.

Norio, R., Nevanlinna, H. R., & Perheentupa, J. (1973) · PubMed · Cited by 251 · see citing works

High incidence of malaria in α-thalassaemic children

Williams, T. N., Maitland, K., Bennett, S., Ganczakowski, M., Peto, T., Newbold, C., Bowden, D. K., Weatherall, D. J., & Clegg, J. B. (1996) · Nature · doi:10.1038/383522a0 · Cited by 238 · see citing works

Paternal and maternal DNA lineages reveal a bottleneck in the founding of the Finnish population.

Sajantila, A., Salem, A. H., Savolainen, P., Bauer, K., Gierig, C., & Pääbo, S. (1996) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.93.21.12035 · Cited by 231 · see citing works

Emergence of <i>FY*A</i> ^null in a <i>Plasmodium vivax</i> -endemic region of Papua New Guinea

Zimmerman, P. A., Woolley, I., Masinde, G. L., Miller, S. M., McNamara, D. T., Hazlett, F., Mgone, C. S., Alpers, M. P., Genton, B., Boatin, B. A., et al. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.24.13973 · Cited by 231 · see citing works

Genomewide Screen and Identification of Gene-Gene Interactions for Asthma-Susceptibility Loci in Three U.S. Populations: Collaborative Study on the Genetics of Asthma

Xu, J., Meyers, D. A., Ober, C., Blumenthal, M. N., Mellen, B. G., Barnes, K. C., King, R. A., Lester, L. A., Howard, T. D., Solway, J., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/320589 · Cited by 230 · see citing works

Mapping by admixture linkage disequilibrium in human populations: limits and guidelines.

Stephens, J. C., Briscoe, D. A., & O’Brien, S. J. (1994) · PubMed Central · Cited by 223 · see citing works

Mutations in a Novel Gene with Transmembrane Domains Underlie Usher Syndrome Type 3

Joensuu, T. H., Hämäläinen, R. H., Yuan, B., Johnson, C. K. H., Tegelberg, S., Gasparini, P., Zelante, L., Pirvola, U., Pakarinen, L., Lehesjoki, A., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/323610 · Cited by 217 · see citing works

Genes, Peoples and Languages

Cavalli-Sforza, L. L. (1991) · Scientific American · doi:10.1038/scientificamerican1191-104 · Cited by 212 · see citing works

A putative vulnerability locus to multiple sclerosis maps to 5p14–p12 in a region syntenic to the murine locus Eae2

Kuokkanen, S., Sundvall, M., Terwilliger, J. D., Tienari, P. J., Wikstrom, J., Holmdahl, R., Pettersson, U., & Peltonen, L. (1996) · Nature Genetics · doi:10.1038/ng0896-477 · Cited by 208 · see citing works

Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome

Stone, D. L., Slavotinek, A. M., Bouffard, G. G., Banerjee‐Basu, S., Baxevanis, A. D., Barr, M., & Biesecker, L. G. (2000) · Nature Genetics · doi:10.1038/75637 · Cited by 201 · see citing works

Dual Origins of Finns Revealed by Y Chromosome Haplotype Variation

Kittles, R. A., Perola, M., Peltonen, L., Bergen, A. W., Aragon, R., Virkkunen, M. E., Linnoila, M., Goldman, D. A., & Long, J. C. (1998) · The American Journal of Human Genetics · doi:10.1086/301831 · Cited by 200 · see citing works

On the rate of molecular evolution

Kimura, M., & Ohta, T. (1971) · Journal of Molecular Evolution · doi:10.1007/bf01659390 · Cited by 195 · see citing works

Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism

Avela, K., Lipsanen‐Nyman, M., Idänheimo, N., Seemanová, E., Rosengren, S. S., Mäkelä, T. P., Perheentupa, J., de la Chapelle, A., & Lehesjoki, A. (2000) · Nature Genetics · doi:10.1038/77053 · Cited by 189 · see citing works

Human Genomic Diversity in Europe: A Summary of Human Genomic Diversity in Europe: A Summary of Recent Research and Prospects for the Future

Cavalli-Sforza, L. L., & Piazza, A. (1993) · European Journal of Human Genetics · doi:10.1159/000472383 · Cited by 188 · see citing works

The Genetic Dissection of Complex Traits in a Founder Population

Ober, C., Abney, M., & McPeek, M. S. (2001) · The American Journal of Human Genetics · doi:10.1086/324025 · Cited by 188 · see citing works

Autosomal, mtDNA, and Y-Chromosome Diversity in Amerinds: Pre- and Post-Columbian Patterns of Gene Flow in South America

Mesa, N., Mondragón, M. C., Soto‐Calderón, I. D., Parra, M. V., Duque, C., Ortíz-Barrientos, D., García, L. F., Vélez, I. D., Bravo, M. L. J., Múnera, J. G., et al. (2000) · The American Journal of Human Genetics · doi:10.1016/s0002-9297(07)62955-3 · Cited by 176 · see citing works

A Second‐Generation Genomewide Screen for Asthma‐Susceptibility Alleles in a Founder Population

Ober, C., Tsalenko, A., Parry, R. R., et al. (2000) · The American Journal of Human Genetics · doi:10.1086/321191 · Cited by 176 · see citing works

Mutations in the Na-Cl Cotransporter Reduce Blood Pressure in Humans

Cruz, D. N., Simon, D. B., Nelson-Williams, C. J., Farhi, A., Finberg, K. E., Burleson, L., Gill, J. R., & Lifton, R. P. (2001) · Hypertension · doi:10.1161/01.hyp.37.6.1458 · Cited by 175 · see citing works

Secondary calpain3 deficiency in 2q-linked muscular dystrophy

Haravuori, H., Vihola, A., Straub, V. W., Auranen, M., Richard, I., Marchand, S., Voït, T., Labeit, S., Somer, H., Peltonen, L., et al. (2001) · Neurology · doi:10.1212/wnl.56.7.869 · Cited by 174 · see citing works

Diabetes in the Old Order Amish: characterization and heritability analysis of the Amish Family Diabetes Study.

Hsueh, W.-C., Mitchell, B. D., Aburomia, R., Pollin, T. I., Sakul, H., Ehm, M. G., Michelsen, B. K., Wagner, M. J., Jean, P. L. S., Knowler, W. C., et al. (2000) · Diabetes Care · doi:10.2337/diacare.23.5.595 · Cited by 173 · see citing works

A genome-wide search for chromosomal loci linked to bipolar affective disorder in the Old Order Amish

Ginns, E. I., Ott, J., Egeland, J. A., Allen, C. R., Fann, C. S. J., Pauls, D. L., Weissenbach, J., Carulli, J. P., Falls, K. M., Keith, T. P., et al. (1996) · Nature Genetics · doi:10.1038/ng0496-431 · Cited by 172 · see citing works

Genome-wide scan in a nationwide study sample of schizophrenia families in Finland reveals susceptibility loci on chromosomes 2q and 5q

Paunio, T. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.26.3037 · Cited by 171 · see citing works

Mutation in gelsolin gene in Finnish hereditary amyloidosis.

Levy, E., Haltia, M., Fernandez-Madrid, I. J., Koivunen, O., Ghiso, J. A., Prelli, F. C., & Frangione, B. (1990) · The Journal of Experimental Medicine · doi:10.1084/jem.172.6.1865 · Cited by 158 · see citing works

Linkage and Association Studies of Prostate Cancer Susceptibility: Evidence for Linkage at 8p22-23

Xu, J., Zheng, S. L., Hawkins, G. A., Faith, D., Kelly, B., Isaacs, S. D., Wiley, K. E., Chang, B., Ewing, C. M., Bujnovszky, P., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/321967 · Cited by 154 · see citing works

Genetics and the population history of Europe

Barbujani, G., & Bertorelle, G. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.98.1.22 · Cited by 147 · see citing works

Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease.

Ikonen, E., Baumann, M., Grön, K., Syvänen, A.-C., Enomaa, N., Halila, R., Aula, P., & Peltonen, L. (1991) · The EMBO Journal · doi:10.1002/j.1460-2075.1991.tb07920.x · Cited by 138 · see citing works

A Genome Scan for Type 2 Diabetes Susceptibility Loci in a Genetically Isolated Population

Permutt, M. A., Wasson, J. C., Suarez, B. K., Lin, J. Y., Thomas, J., Meyer, J. M., Lewitzky, S., Rennich, J. S., Parker, A. N., Duprat, L. J., et al. (2001) · Diabetes · doi:10.2337/diabetes.50.3.681 · Cited by 135 · see citing works

Assignment of the Muscle-Eye-Brain Disease Gene to 1p32-p34 by Linkage Analysis and Homozygosity Mapping

Cormand, B., Avela, K., Pihko, H. S., Santavuori, P., Talim, B., Topaloğlu, H., de la Chapelle, A., & Lehesjoki, A. (1999) · The American Journal of Human Genetics · doi:10.1086/302206 · Cited by 131 · see citing works

Genome Scan for Predisposing Loci for Distal Interphalangeal Joint Osteoarthritis: Evidence for a Locus on 2q

Leppävuori, J., Kujala, U. M., Kinnunen, J., Kaprio, J. A., Nissilä, M., Heliövaara, M., Klinger, N., Partanen, J., Terwilliger, J. D., & Peltonen, L. (1999) · The American Journal of Human Genetics · doi:10.1086/302569 · Cited by 120 · see citing works

Positional Cloning of Disease Genes: Advantages of Genetic Isolates

Peltonen, L. (1999) · Human Heredity · doi:10.1159/000022892 · Cited by 115 · see citing works

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 · see citing works

The genetic relationship between the Finns and the Finnish Saami (Lapps): analysis of nuclear DNA and mtDNA.

Lahermo, P., Sajantila, A., Sistonen, P., Lukka, M., Aula, P., Peltonen, L., & Savontaus, M.-L. (1996) · PubMed Central · Cited by 115 · see citing works

Quantitative-Trait-Locus Analysis of Body-Mass Index and of Stature, by Combined Analysis of Genome Scans of Five Finnish Study Groups

Perola, M., Öhman, M. K., Hiekkalinna, T., Leppävuori, J., Pajukanta, P., Wessman, M., Koskenvuo, M. J., Palotie, A. V., Lange, K. L., Kaprio, J. A., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/321286 · Cited by 115 · see citing works

The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21–q24

Paavola, P., Salonen, R., Weissenbach, J., & Peltonen, L. (1995) · Nature Genetics · doi:10.1038/ng1095-213 · Cited by 112 · see citing works

Episodic evolution of pyrin in primates: human mutations recapitulate ancestral amino acid states

Schaner, P. E., Richards, N. W., Wadhwa, A., Aksentijevich, I. A., Kastner, D. L., Tucker, P. K., & Gumucio, D. L. (2001) · Nature Genetics · doi:10.1038/85893 · Cited by 111 · see citing works

Review

Peltonen, L., Pekkarinen, P., & Aaltonen, J. (1995) · Biological Chemistry Hoppe-Seyler · doi:10.1515/bchm3.1995.376.12.697 · Cited by 110 · see citing works

Proceedings of the Third International Congress of Human Genetics

Roberts, J. A. (1969) · Europe PMC (PubMed Central) · Cited by 108 · see citing works

DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13–36.32 in an Italian family with cranial‐cervical or upper limb onset

Valente, E. M., Bentivoglio, A. R., Cassetta, E., Dixon, P. H., Davis, M. B., Ferraris, A., Ialongo, T., Frontali, M., Wood, N. W., & Albanese, A. (2001) · Annals of Neurology · doi:10.1002/ana.73 · Cited by 107 · see citing works

Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus.

Nikali, K., Suomalainen, A., Terwilliger, J. D., Koskinen, T., Weissenbach, J., & Peltonen, L. (1995) · PubMed Central · Cited by 106 · see citing works

Shared HLA antigens and reproductive performance among Hutterites.

Ober, C. L., Martin, A. O., Simpson, J. L., Hauck, W. W., Amos, D. B., Kostyu, D. D., Fotino, M., & Allen, F. H. (1983) · PubMed · Cited by 105 · see citing works

Low Prevalence of Psychoses Among the Hutterites, an Isolated Religious Community

Nimgaonkar, V. L., Fujiwara, T. M., Dutta, M., Wood, J., Gentry, K., Maendel, S., Morgan, K., & Eaton, J. (2000) · American Journal of Psychiatry · doi:10.1176/appi.ajp.157.7.1065 · Cited by 104 · see citing works

Ellis-van Creveld syndrome and the Amish

McKusick, V. A. (2000) · Nature Genetics · doi:10.1038/73389 · Cited by 102 · see citing works

Biocultural Aspects of Disease

Cooper, R. (1982) · JAMA · doi:10.1001/jama.1982.03330020074037 · Cited by 98 · see citing works

Geographic patterns: how to identify them and why.

Barbujani, G. (2000) · PubMed · Cited by 98 · see citing works

Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish.

Biery, B. J., Stein, D. E., Morton, D. H., & Goodman, S. I. (1996) · PubMed Central · Cited by 97 · see citing works

Aberrant splicing of the CHM gene is a significant cause of choroideremia

Sankila, E., Tolvanen, R., van den Hurk, J. A. J. M., Cremers, F. P. M., & de la Chapelle, A. (1992) · Nature Genetics · doi:10.1038/ng0592-109 · Cited by 95 · see citing works

Vitiligo: complex segregation and linkage disequilibrium analyses with respect to microsatellite loci spanning the HLA

Arcos‐Burgos, M., Parodi, E., Salgar, M., Bedoya, E., Builes, J. J., J., D. E. J., Gabriel Ceballos, C., Uribe, A., Rivera, N., Rivera, D., et al. (2002) · Human Genetics · doi:10.1007/s00439-002-0687-5 · Cited by 94 · see citing works

Assignment of the Tibial Muscular Dystrophy Locus to Chromosome 2q31

Haravuori, H., Mäkelä‐Bengs, P., Udd, B., Partanen, J. V., Pulkkinen, L., Somer, H., & Peltonen, L. (1998) · The American Journal of Human Genetics · doi:10.1086/301752 · Cited by 91 · see citing works

Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia.

Kure, S., Takayanagi, M., Narisawa, K., Tada, K., & Leisti, J. (1992) · Journal of Clinical Investigation · doi:10.1172/jci115831 · Cited by 91 · see citing works

The Importance of Genealogy in Determining Genetic Associations with Complex Traits

Newman, D. L., Abney, M., McPeek, M. S., Ober, C., & Cox, N. J. (2001) · The American Journal of Human Genetics · doi:10.1086/323659 · Cited by 90 · see citing works

QTL Influencing Blood Pressure Maps to the Region of PPH1 on Chromosome 2q31-34 in Old Order Amish

Hsueh, W., Mitchell, B. D., Schneider, J. L., Wagner, M. J., Bell, C. J., Nanthakumar, E. J., & Shuldiner, A. R. (2000) · Circulation · doi:10.1161/01.cir.101.24.2810 · Cited by 89 · see citing works

Genome-Wide Scan of Obesity in the Old Order Amish1

Hsueh, W., Mitchell, B. D., Schneider, J. L., Jean, P. L. S., Pollin, T. I., Ehm, M. G., Wagner, M. J., Burns, D. K., Sakul, H., Bell, C. J., et al. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.86.3.7358 · Cited by 88 · see citing works

Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis

Tahvanainen, E., Norio, R., Karila, E., Ranta, S., Weissenbach, J., Sistonen, P., & de la Chapelle, A. (1994) · Nature Genetics · doi:10.1038/ng0694-201 · Cited by 87 · see citing works

The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8.

Tahvanainen, E., Ranta, S., Hirvasniemi, A., Karila, E., Leisti, J., Sistonen, P., Weissenbach, J., Lehesjoki, A., & de la Chapelle, A. (1994) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.91.15.7267 · Cited by 83 · see citing works

An association study of bipolar mood disorder (type I) with the 5-HTTLPR serotonin transporter polymorphism in a human population isolate from Colombia

Ospina-Duque, J., Duque, C., Carvajal‐Carmona, L. G., Ortíz-Barrientos, D., Soto‐Calderón, I. D., Pineda-Trujillo, N., Arias, J. M. C., Calle, J., López‐Jaramillo, C., Ochoa, L., et al. (2000) · Neuroscience Letters · doi:10.1016/s0304-3940(00)01464-6 · Cited by 81 · see citing works

Asthma on Tristan da Cunha: Looking for the Genetic Link. The University of Toronto Genetics of Asthma Research Group

Zamel, N., McClean, P. A., Sandell, P. R., Siminovitch, K. A., & Slutsky, A. S. (1996) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/ajrccm.153.6.8665053 · Cited by 80 · see citing works

Homozygous Deletion in KVLQT1 Associated With Jervell and Lange-Nielsen Syndrome

Chen, Q., Zhang, D., Gingell, R. L., Moss, A. J., Napolitano, C., Priori, S. G., Schwartz, P. J., Kehoe, E., Robinson, J. L., Schulze‐Bahr, E., et al. (1999) · Circulation · doi:10.1161/01.cir.99.10.1344 · Cited by 80 · see citing works

Human mitochondrial DNA types in two Israeli populations--a comparative study at the DNA level.

Bonné, B., Johnson, M. J., Natali, A., Wallace, D. C., & Cavalli-Sforza, L. L. (1986) · PubMed · Cited by 79 · see citing works

Assignment of the Locus for Congenital Lactase Deficiency to 2q21, in the Vicinity of but Separate from the Lactase-Phlorizin Hydrolase Gene

Järvelä, I. E., Enattah, N. S., Kokkonen, J., Varilo, T., Savilahti, E., & Peltonen, L. (1998) · The American Journal of Human Genetics · doi:10.1086/302064 · Cited by 79 · see citing works

Conditional linkage disequilibrium analysis of a complex disease superlocus, IDDM1 in the HLA region, reveals the presence of independent modifying gene effects influencing the type 1 diabetes risk encoded by the major HLA-DQB1, -DRB1 disease loci

Zavattari, P. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.8.881 · Cited by 79 · see citing works

At least two mutant alleles of ornithine delta-aminotransferase cause gyrate atrophy of the choroid and retina in Finns.

Mitchell, G. A., Brody, L. C., Sipilä, I., Looney, J. E., Wong, C., Engelhardt, J. F., Patel, A. S., Steel, G., Obie, C., & Kaiser‐Kupfer, M. I. (1989) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.86.1.197 · Cited by 78 · see citing works

Evidence for a chromosome 2p13–14 schizophrenia susceptibility locus in families from Palau, Micronesia

Coon, H. H., Myles‐Worsley, M., Tiobech, J., Hoff, M., Rosenthal, J., Bennett, P., Reimherr, F. W., Wender, P. H., Dale, P. W., Polloi, A., et al. (1998) · Molecular Psychiatry · doi:10.1038/sj.mp.4000453 · Cited by 75 · see citing works

History and relevance of the Hutterite population for genetic studies

Hostetler, J. A., Opitz, J. M., & Reynolds, J. F. (1985) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320220303 · Cited by 74 · see citing works

Gene Mapping in Isolated Populations: New Roles for Old Friends?

Jorde, L. B., Watkins, W. S., Kere, J., Nyman, D., & Eriksson, A. W. (1999) · Human Heredity · doi:10.1159/000022891 · Cited by 72 · see citing works

Autosomal, mtDNA, and Y‐Chromosome Diversity in Amerinds: Pre‐ and Post‐Columbian Patterns of Gene Flow in South America

Mesa, N. R., Mondragón, M. C., Soto‐Calderón, I. D., et al. (2000) · The American Journal of Human Genetics · doi:10.1086/321214 · Cited by 72 · see citing works

Genetic isolates: separate but equal?

Kruglyak, L. (1999) · Proceedings of the National Academy of Sciences of the United States of America · doi:10.1073/pnas.96.4.1170 · Cited by 70 · see citing works

Archival, demographic and genetic studies define a Sardinian sub-isolate as a suitable model for mapping complex traits

Angius, A., Melis, P. M., Morelli, L., Petretto, E. G., Casu, G., Maestrale, G. B., Fraumene, C., Bebbere, D., Forabosco, P., & Pirastu, M. (2001) · Human Genetics · doi:10.1007/s004390100557 · Cited by 69 · see citing works

Localization of the Gene for the Intermediate Form of Charcot-Marie-Tooth to Chromosome 10q24.1-q25.1

Verhoeven, K., Villanova, M., Rossi, A., Malandrini, A., Jonghe, P. D., & Timmerman, V. (2001) · The American Journal of Human Genetics · doi:10.1086/323742 · Cited by 69 · see citing works

Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor–vitamin B12 by cubilin

Kristiansen, M., Aminoff, M., Jacobsen, C. B., de la Chapelle, A., Krahe, R., Verroust, P. J., & Moestrup, S. K. (2000) · Blood · doi:10.1182/blood.v96.2.405 · Cited by 69 · see citing works

Genetic variation in paraoxonase-1 and paraoxonase-2 is associated with variation in plasma lipoproteins in Alberta Hutterites

Boright, A. P., Connelly, P. W., Brunt, J., Scherer, S. W., Tsui, L., & Hegele, R. A. (1998) · Atherosclerosis · doi:10.1016/s0021-9150(98)00071-9 · Cited by 68 · see citing works

Genomewide Multipoint Linkage Analysis of Seven Extended Palauan Pedigrees with Schizophrenia, by a Markov-Chain Monte Carlo Method

Camp, N. J., Neuhausen, S. L., Tiobech, J., Polloi, A., Coon, H. H., & Myles‐Worsley, M. (2001) · The American Journal of Human Genetics · doi:10.1086/324590 · Cited by 65 · see citing works

Linkage study of the alpha2A adrenergic receptor in attention-deficit hyperactivity disorder families.

Xu, C., Schachar, R., Tannock, R., Roberts, W., Malone, M., Kennedy, J., & Barr, C. (2001) · American journal of medical genetics · doi:10.1002/1096-8628(2001)9999:9999 · Cited by 63 · see citing works

The effect of hitch-hiking on genes linked to a balanced polymorphism in a subdivided population

Schierup, M. H., Charlesworth, D., & Vekemans, X. (2000) · Genetics Research · doi:10.1017/s0016672300004547 · Cited by 63 · see citing works

Molecular Background of the Finnish Disease Heritage

Peltonen, L. (1997) · Annals of Medicine · doi:10.3109/07853899709007481 · Cited by 61 · see citing works

Estimation of race admixture--a new method.

Chakraborty, R. (1975) · American Journal of Physical Anthropology · doi:10.1002/ajpa.1330420319 · Cited by 61 · see citing works

High-Resolution Physical and Transcriptional Mapping of the Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy Locus on Chromosome 21q22.3 by FISHPreprint

Aaltonen, J., Horelli‐Kuitunen, N., Fan, J., Björses, P., Perheentupa, J., Myers, R., Palotie, A. V., & Peltonen, L. (1997) · Genome Research · doi:10.1101/gr.7.8.820 · Cited by 60 · see citing works

Polymorphisms and phyletic relationships of the Paisa community from Antioquia (Colombia).

Ml, B., Cy, V., & Arcos‐Burgos, M. (1996) · PubMed · Cited by 59 · see citing works

GROUP INBREEDING WITH TWO LINKED LOCI

Weir, B. S., & Cockerham, C. C. (1969) · Genetics · doi:10.1093/genetics/63.3.711 · Cited by 58 · see citing works

Assignment of the Disease Locus for Lethal Congenital Contracture Syndrome to a Restricted Region of Chromosome 9q34, by Genome Scan Using Five Affected Individuals

Mäkelä‐Bengs, P., Järvinen, N., Vuopala, K. S., Suomalainen, A., Ignatius, J., Sipilä, M., Herva, R., Palotie, A. V., & Peltonen, L. (1998) · The American Journal of Human Genetics · doi:10.1086/301968 · Cited by 58 · see citing works

A novel Cys212Tyr founder mutation in parkin and allelic heterogeneity of juvenile Parkinsonism in a population from North West Colombia

Pineda-Trujillo, N., Carvajal‐Carmona, L. G., Buriticá, O., Moreno, S., Uribe, C. S., Pineda, D. A., Toro, M. F., Garcı́a, F., Arias, W. H., Bedoya, G., et al. (2001) · Neuroscience Letters · doi:10.1016/s0304-3940(00)01733-x · Cited by 58 · see citing works

DNA Variation and Language Affinities

Barbujani, G. (1997) · The American Journal of Human Genetics · doi:10.1086/301620 · Cited by 56 · see citing works

Genetic Variation on Chromosome 1 Associated With Variation in Body Fat Distribution in Men

Hegele, R. A., Brunt, J., & Connelly, P. W. (1995) · Circulation · doi:10.1161/01.cir.92.5.1089 · Cited by 54 · see citing works

Genome-Wide Scan of Obesity in the Old Order Amish

Hsueh, W. C. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.86.3.1199 · Cited by 54 · see citing works

Rheumatoid arthritis association in Colombian population is restricted to HLA-DRB1*04 QRRAA alleles

Anaya, J., Corréa, P., Mantilla, R. D., & Arcos‐Burgos, M. (2002) · Genes and Immunity · doi:10.1038/sj.gene.6363833 · Cited by 49 · see citing works

The genetic origin of the Jews: a multivariate approach.

Carmelli, D., & Cavalli-Sforza, L. L. (1979) · PubMed · Cited by 49 · see citing works

Are the Basques a single and a unique population?

Aguirre, A. I., Vicario, A., Mazón, L. I., Estomba, A., de Pancorbo, M. M., Picó, V. A., Elortondo, F. J. P., & Lostao, C. M. (1991) · Europe PMC (PubMed Central) · Cited by 48 · see citing works

Recombination of haplotypes leads to biased estimates of admixture proportions in human populations.

Chakraborty, R., & Smouse, P. E. (1988) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.85.9.3071 · Cited by 46 · see citing works

A Locus for Autosomal Dominant Colobomatous Microphthalmia Maps to Chromosome 15q12-q15

Morlé, L., Bozon, M., Zech, J., Alloisio, N., Raas‐Rothschild, A., Philippe, C., Lambert, J. C., Godet, J., Plauchu, H., & Edery, P. (2000) · The American Journal of Human Genetics · doi:10.1086/316894 · Cited by 46 · see citing works

Assignment of the Locus for PLO-SL, a Frontal-Lobe Dementia with Bone Cysts, to 19q13

Pekkarinen, P., Hovatta, I., Hakola, P., JÄRVI, O. H., Kestilä, M., Lenkkeri, U., Adolfsson, R., Holmgren, G., Nylander, P., Tranebjærg, L., et al. (1998) · The American Journal of Human Genetics · doi:10.1086/301722 · Cited by 44 · see citing works

TAP, HLA-DQB1, and HLA-DRB1 polymorphism in Colombian patients with primary Sjögren's syndrome

Anaya, J., Corréa, P., Mantilla, R. D., & Arcos‐Burgos, M. (2002) · Seminars in Arthritis and Rheumatism · doi:10.1053/sarh.2002.32557 · Cited by 44 · see citing works

Estimation of inbreeding parameters in stratified populations

Cockerham, C. C., & Weir, B. S. (1986) · Annals of Human Genetics · doi:10.1111/j.1469-1809.1986.tb01048.x · Cited by 44 · see citing works

Surnames as neutral alleles: observations in Sardinia.

Zei, G., Guglielmino, C. R., Siri, E., Moroni, A., & Cavalli-Sforza, L. L. (1983) · PubMed · Cited by 44 · see citing works

Genetic analysis in Finnish families with inflammatory bowel disease supports linkage to chromosome 3p21

Paavola, P., Heliö, T. M., Kiuru, M. H., Halme, L., Turunen, U., Terwilliger, J. D., Karvonen, A., Julkunen, R. J. K., Niemelä, S., Nurmi, H., et al. (2001) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200626 · Cited by 43 · see citing works

INBREEDING AND PREREPRODUCTIVE MORTALITY IN THE OLD ORDER AMISH. I. GENEALOGIC EPIDEMIOLOGY OF INBREEDING

Khoury, M. J., Cohen, B. H., Diamond, E. L., Chase, G. A., & McKusick, V. A. (1987) · American Journal of Epidemiology · doi:10.1093/oxfordjournals.aje.a114551 · Cited by 42 · see citing works

Cladistic association analysis of Y chromosome effects on alcohol dependence and related personality traits

Kittles, R. A., Long, J. C., Bergen, A. W., Eggert, M., Virkkunen, M. E., Linnoila, M., & Goldman, D. A. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.7.4204 · Cited by 41 · see citing works

Socioeconomic assortative mating in Santiago, Chile: A demonstration using stochastic matrices of mother‐child relationships applied to ABO blood groups

Valenzuela, C. Y., & Harb, Z. (1977) · Social Biology · doi:10.1080/19485565.1977.9988285 · Cited by 41 · see citing works

Identification of a New Candidate Locus for Uric Acid Nephrolithiasis

Ombra, M. N., Forabosco, P., Casula, S., Angius, A., Maestrale, G., Petretto, E. G., Casu, G., Colussi, G., Usai, E., Melis, P. M., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/320105 · Cited by 41 · see citing works

A Locus for an Autosomal Dominant Form of Progressive Renal Failure and Hypertension at Chromosome 1q21

Cohn, D. H., Shohat, T., Yahav, M., Ilan, T., Rechavi, G., King, L. M., & Shohat, M. (2000) · The American Journal of Human Genetics · doi:10.1086/303051 · Cited by 40 · see citing works

Genome screening for linkage disequilibrium in a Costa Rican sample of patients with bipolar-I disorder: A follow-up study on chromosome 18

Escamilla, M., McInnes, L. A., Service, S. K., Spesny, M., Reus, V. I., Molina, J., Gallegos, Á., Fournier, E., Batki, S. L., Neylan, T. C., et al. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.1205 · Cited by 40 · see citing works

Fine-scale mapping of a locus for severe bipolar mood disorder on chromosome 18p11.3 in the Costa Rican population

McInnes, L., Service, S., Reus, V., Barnes, G., Charlat, O., Jawahar, S., Lewitzky, S., Yang, Q., Duong, Q., Spesny, M., et al. (2001) · Proceedings of the National Academy of Sciences of the United States of America · doi:10.1073/pnas.191519098 · Cited by 40 · see citing works

A follow-up report of a genome search for affective disorder predisposition loci in the Old Order Amish.

Labuda, M. C., Maldonado, M., Marshall, D., Otten, K., & Gerhard, D. S. (1996) · PubMed Central · Cited by 36 · see citing works

Assignment of the Locus for Hydrolethalus Syndrome to a Highly Restricted Region on 11q23-25

Visapää, I., Salonen, R., Varilo, T., Paavola, P., & Peltonen, L. (1999) · The American Journal of Human Genetics · doi:10.1086/302603 · Cited by 36 · see citing works

Fine mapping of a gene responsible for regulating dietary cholesterol absorption; founder effects underlie cases of phytosterolaemia in multiple communities

Lee, M., Gordon, D., Ott, J., Lu, K., Ose, L., Miettinen, T. A., Gylling, H., Stalenhoef, A. F. H., Pandya, A., Hidaka, H., et al. (2001) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200628 · Cited by 36 · see citing works

Do Basque- and Caucasian- Speaking Populations Share Non-Indo-European Ancestors?

Calafell, F., Nasidze, I. S., Barbujani, G., Bertorelle, G., & Bertranpetit, J. (1995) · European Journal of Human Genetics · doi:10.1159/000472306 · Cited by 33 · see citing works

The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6.

Haataja, L. M., Schleutker, J., Laine, A., Renlund, M., Savontaus, M. L., Dib, C., Weissenbach, J., Peltonen, L., & Aula, P. (1994) · PubMed Central · Cited by 33 · see citing works

Linkage Disequilibrium Mapping of the Gene for Margarita Island Ectodermal Dysplasia (ED4) to 11q23

Suzuki, K., Bustos, T., & Spritz, R. A. (1998) · The American Journal of Human Genetics · doi:10.1086/302072 · Cited by 33 · see citing works

Current topic: HLA and reproduction: Lessons from studies in the Hutterites

Ober, C. (1995) · Placenta · doi:10.1016/0143-4004(95)90026-8 · Cited by 33 · see citing works

Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis

Tahvanainen, E., Forsius, H. R., Karila, E., Ranta, S., Eerola, M., Weissenbach, J., Sistonen, P., & de la Chapelle, A. (1995) · Genomics · doi:10.1016/0888-7543(95)80213-6 · Cited by 33 · see citing works

Selective intestinal malabsorption of vitamin B12 displays recessive mendelian inheritance: assignment of a locus to chromosome 10 by linkage.

Aminoff, M., Tahvanainen, E., Gräsbeck, R., Weissenbach, J., Broch, H., & de la Chapelle, A. (1995) · PubMed Central · Cited by 33 · see citing works

Linkage to atopy on chromosome 19 in north‐eastern Italian families with allergic asthma

Venanzi, S., Malerba, G., Galavotti, R., Lauciello, M. C., Trabetti, E., Zanoni, G., Pescollderungg, L., Martinati, L. C., Boner, A. L., & Pignatti, P. F. (2001) · Clinical & Experimental Allergy · doi:10.1046/j.1365-2222.2001.01132.x · Cited by 33 · see citing works

Mapping genes for complex traits in founder populations

Ober, & Cox (1998) · Clinical & Experimental Allergy · doi:10.1046/j.1365-2222.1998.0280s1101.x · Cited by 32 · see citing works

Prevalence of psychosis among the Hutterites: a reanalysis of the 1950–1953 study

Torrey, Ε. F. (1995) · Schizophrenia Research · doi:10.1016/0920-9964(95)00042-k · Cited by 32 · see citing works

Genetic and Biochemical Factors Associated With Variation in Blood Pressure in a Genetic Isolate

Hegele, R. A., Brunt, J., & Connelly, P. W. (1996) · Hypertension · doi:10.1161/01.hyp.27.2.308 · Cited by 30 · see citing works

Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor–vitamin B12 by cubilin

Kristiansen, M., Aminoff, M., Jacobsen, C. B., et al. (2000) · Blood · doi:10.1182/blood.v96.2.405.014k16_405_409 · Cited by 30 · see citing works

Surnames in Sardinia II. Computation of migration matrices from surname distributions in different periods

Wijsman, E. M., Zei, G., Moroni, A., & Cavalli-Sforza, L. L. (1984) · Annals of Human Genetics · doi:10.1111/j.1469-1809.1984.tb00836.x · Cited by 28 · see citing works

Genetic analysis of HLA in the U.S. Schmiedenleut Hutterites.

Kostyu, D. D., Ober, C. L., Dawson, D. V., Ghanayem, M., Elias, S., & Martin, A. O. (1989) · PubMed · Cited by 25 · see citing works

Spatial subdivision of populations and estimates of genetic variation

Cavalli-Sforza, L. L., & Feldman, M. W. (1990) · Theoretical Population Biology · doi:10.1016/0040-5809(90)90024-p · Cited by 25 · see citing works

Ancestral and recombinant 16-locus HLA haplotypes in the Hutterites

WEITKAMP, L. R., & Ober, C. (1999) · Immunogenetics · doi:10.1007/s002510050525 · Cited by 25 · see citing works

Idiopathic epilepsy with generalized tonic clonic seizures in Antioquia, Colombia: is the joint Amerindian and Negroid racial admixture the cause of its high prevalence?

Jiménez, I., Mora, O., López, G., Jiménez, M. E., Zuluga, L., Isaza, R., Sanchez, J. L., Uribe, C. S., Valenzuela, C. Y., Blanco, R., et al. (1996) · PubMed · Cited by 24 · see citing works

Assignment of the Locus for a New Lethal Neonatal Metabolic Syndrome to 2q33-37

Visapää, I., Fellman, V., Varilo, T., Palotie, A. V., Raivio, K. O., & Peltonen, L. (1998) · The American Journal of Human Genetics · doi:10.1086/302123 · Cited by 24 · see citing works

Surnames as Neutral Alleles: Observations in Sardinia

Zei, G., Guglielmino, C. R., Siri, E., Moroni, A., & Ll, C.-S. (2020) · Human Biology · Cited by 24 · see citing works

Identification of Disease Genes in Genetic Isolates

Peltonen, L. (1996) · Methods · doi:10.1006/meth.1996.0017 · Cited by 23 · see citing works

Confirmation of the DRB1-DQB1 loci as the major component of IDDM1 in the isolated founder population of Sardinia

Zavattari, P. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.20.2967 · Cited by 23 · see citing works

Novel X-linked mental retardation syndrome with short stature maps to Xq24

Vitale, E., Specchia, C., Devoto, M., Angius, A., Sun, R., Rocchi, M., Schwalb, M. N., Demelas, L., Paglietti, D., Manca, S., et al. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.1495 · Cited by 20 · see citing works

Discriminación de factores genéticos en el déficit de atención

Restrepo, F. L., Palacio, L. G., Ramírez, I. J., Villegas, P., Puerta, I. C., Pineda, D. A., Jaramillo, M. E. J., & Arcos‐Burgos, M. (1999) · Revista de Neurología · doi:10.33588/rn.2807.98517 · Cited by 20 · see citing works

Analysis of HLA Haplotype Segregation in the Schmiedeleut Hutterites of South Dakota

Bryttan, J. M., Kostyu, D. D., Ober, C., Elias, S., & Dawson, D. V. (1994) · Human Heredity · doi:10.1159/000154215 · Cited by 19 · see citing works

Rare Disease Genes—Lessons and ChallengesPreprint

Peltonen, L., & Uusitalo, A. (1997) · Genome Research · doi:10.1101/gr.7.8.765 · Cited by 18 · see citing works

Genetic studies in American inbred populations with particular reference to the Old Order Amish.

Va, M. (1974) · PubMed · Cited by 18 · see citing works

Multiple Sclerosis: Association to HLA DQα in a Tropical Population

Arcos‐Burgos, M., Palacio, G., Sánchez, J. L., Londoño, A. C., Uribe, C. S., Jiménez, M. E., Villa, A., Anaya, J., Bravo, M. L. J., Jaramillo, N., et al. (1999) · Experimental and Clinical Immunogenetics · doi:10.1159/000019105 · Cited by 14 · see citing works

Blood groups in two Amish demes

McKusick, V. A., Bias, W. Β., Norum, R. A., & Cross, H. E. (1967) · Human Genetics · doi:10.1007/bf00286209 · Cited by 14 · see citing works

Searching for a major genetic locus for affective disorder in the old order Amish

Kidd, J. R., Egeland, J. A., Pakstis, A. J., Castiglione, C. M., Pletcher, B. A., Morton, L. A., & Kídd, K. K. (1987) · Journal of Psychiatric Research · doi:10.1016/0022-3956(87)90107-5 · Cited by 12 · see citing works

Hallazgos neuropatológicos en la enfermedad de Alzheimer de inicio temprano (mutación E280A-PS1)

Duque-Castaño, A., Mi, R., Arango-Viana, J. C., Arcos-Burgos, M., Cubillo, H., & Lopera, F. (1999) · Revista de Neurología · doi:10.33588/rn.2901.99122 · Cited by 12 · see citing works

New data for AG haplotype frequencies in Caucasoid populations and selective neutrality of the AG polymorphism.

Sanchez‐Mazas, A., Bütler-Brunner, E., Excoffier, L., Ghanem, N., Salem, M. B., Bréguet, G., Dard, P., Pellegrini, B., Tikkanen, M. J., & Langaney, A. (1994) · PubMed · Cited by 10 · see citing works

Localisation of the gene responsible for Fechtner syndrome in a region <600 Kb on 22q11–q13

Cusano, R., Gangarossa, S., Forabosco, P., Caridi, G., Ghiggeri, G. M., Russo, G. M., Iolascon, A., Ravazzolo, R., & Seri, M. (2000) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200533 · Cited by 10 · see citing works

Genetic Architecture of Temperament

Lichtermann, D., Ekelund, J., Peltonen, L., & Järvelin, M. (2001) · American Journal of Psychiatry · doi:10.1176/appi.ajp.158.8.1339 · Cited by 8 · see citing works

Caracterización clínica de una familia numerosa con enfermedad vascular cerebral hereditaria en Colombia

Restrepo, F. L., Velázquez, J. A., Másmela, S. M., Almeida, N., Arias, J. M. C., & Arcos‐Burgos, M. (2000) · Revista de Neurología · doi:10.33588/rn.3110.2000389 · Cited by 8 · see citing works

Kallmann syndrome gene (KAL-X) is not mutated in schizophrenia

O’Neill, M. J., Brewer, W. J., Thornley, C., Copolov, D., Warne, G. L., Sinclair, A. H., Forrest, S., & Williamson, R. (1999) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19990205)88:1 · Cited by 7 · see citing works

DNA Profiling in a Genetically Isolated Population Using Three Hypervariable DNA Markers

Sajantila, A., Makkonen, K., Ehnholm, C., & Peltonen, L. (1992) · Human Heredity · doi:10.1159/000154100 · Cited by 7 · see citing works

Esclerosis múltiple: aproximación epidemiológico-genética en habitantes de Antioquia, Colombia. Desequilibrio de ligamiento al HLA Dqa

Sánchez, J., Palacio, L. G., Londoño, A. C., Uribe, C. S., Jaramillo, M. E. J., Villa, L. A., Anaya, J., Bravo, M. L. J., Jaramillo, N., Berrio, G. B., et al. (2000) · Revista de Neurología · doi:10.33588/rn.3002.99377 · Cited by 6 · see citing works

Análisis de segregación compleja de una familia numerosa con enfermedad cerebrovascular hereditaria en Antioquia (Colombia)

Restrepo, F. L., García, N. A. R., Velázquez, J. A., Arango, T. R., & Arcos‐Burgos, M. (2001) · Revista de Neurología · doi:10.33588/rn.3203.2000427 · Cited by 6 · see citing works

DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13–36.32 in an Italian family with cranial‐cervical or upper limb onset

Valente, E. M., Bentivoglio, A. R., Cassetta, E., et al. (2001) · Annals of Neurology · doi:10.1002/ana.73.abs · Cited by 6 · see citing works

Plant Self-Incompatibility: The key to specificity

Charlesworth, D. (1994) · Current Biology · doi:10.1016/s0960-9822(00)00121-4 · Cited by 4 · see citing works

Modo de herencia de epilepsia idiopática generalizada no mioclónica en familias pesquisadas a través de probandos afectados de epilepsia idiopática con crisis tonicoclónicas del despertar en Antioquia, Colombia

Mora, O., Ramírez, I. J., Palacio, L. G., Jaramillo, M. E. J., Múnera, J. L. S., Zuluaga, L., Uribe, C. S., Bermúdez, R. A. I., Muñoz, A., & Burgos, O. M. A. (1999) · Revista de Neurología · doi:10.33588/rn.2808.98250 · Cited by 1 · see citing works

[Segregation analysis program for personal computers and microcomputers].

Bianco, M., Barbujani, G., Danieli, G. A., & Barrai, I. (1983) · PubMed · Cited by 1 · see citing works

[Antiochian genealogies in which idiopathic epilepsy presents familial conglomeration. Simulations of power for the detection of genetic linkage].

Arcos‐Burgos, M., Palacio, L. G., Jiménez, I., Pineda-Trujillo, N., Mora, O., Sánchez, J. L., Jiménez, M. J. U., Muñoz, A., Brancolini, V., Devoto, M., et al. (1998) · PubMed · Cited by 1 · see citing works

[Finnish heredity even in hearing disorders?].

Pakarinen, L., & Sankila, E. M. (1998) · PubMed · Cited by 1 · see citing works

[Block mating selection model in a random mating population].

Cy, V. (1973) · PubMed · Cited by 1 · see citing works

E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles

Lendon, C. L., Martinez, A., Behrens, I. M., Kosik, K. S., Madrigal, L., Norton, J., Neuman, R., Myers, A., Busfield, F., Wragg, M., et al. (1997) · Human Mutation · doi:10.1002/(sici)1098-1004(1997)10:3

Untitled work

Aleck (1997) · doi:10.1002/(sici)1096-8628(19971031)72:3

Inbreeding and runs of homozygosity: A possible solution to an old problem

Čurik, I., Ferenčaković, M., & Sölkner, J. (2014) · Livestock Science · doi:10.1016/j.livsci.2014.05.034 · Cited by 419 · see citing works

Patterns of human genetic diversity: implications for human evolutionary history and disease.

Tishkoff, S., & Verrelli, B. (2003) · Annual review of genomics and human genetics (Print) · doi:10.1146/annurev.genom.4.070802.110226 · Cited by 408 · see citing works

Attention-Deficit/Hyperactivity Disorder in a Population Isolate: Linkage to Loci at 4q13.2, 5q33.3, 11q22, and 17p11

Arcos‐Burgos, M., Castellanos, F. X., Pineda, D. A., Lopera, F. J., Palacio, J. D., Palacio, L. G., Rapoport, J. L., Berg, K. A., Wilson, J., & Muenke, M. (2004) · The American Journal of Human Genetics · doi:10.1086/426154 · Cited by 211 · see citing works

The importance of gene–environment interactions in human obesity

Reddon, H., Guéant, J., & Meyre, D. (2016) · Clinical Science · doi:10.1042/cs20160221 · Cited by 198 · see citing works

The promise of discovering population-specific disease-associated genes in South Asia

Nakatsuka, N. J., Moorjani, P., Rai, N., Sarkar, B., Tandon, A., Patterson, N. J., Bhavani, G. S., Girisha, K. M., Mustak, M. S., Srinivasan, S., et al. (2017) · Nature Genetics · doi:10.1038/ng.3917 · Cited by 166 · see citing works

Isolated populations and complex disease gene identification

Kristiansson, K., Naukkarinen, J., & Peltonen, L. (2008) · Genome biology · doi:10.1186/gb-2008-9-8-109 · Cited by 165 · see citing works

Mutation History of the Roma/Gypsies

Morar, B., Gresham, D., Angelicheva, D., Tournev, I., Gooding, R., Guergueltcheva, V., Schmidt, C., Abicht, A., Lochmüller, H., Tordai, A., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/424759 · Cited by 167 · see citing works

Genetic dissection of myocilin glaucoma.

Gong, G., Kosoko-Lasaki, O., Haynatzki, G., & Wilson, M. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh074 · Cited by 175 · see citing works

The Genetic Lexicon of Dyslexia

Paracchini, S., Scerri, T. S., & Monaco, A. P. (2007) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.8.080706.092312 · Cited by 155 · see citing works

Nature, nurture and human disease

Chakravarti, A., & Little, P. (2003) · Nature · doi:10.1038/nature01401 · Cited by 148 · see citing works

Ethnic and population differences in the genetic predisposition to human obesity

Stryjecki, C., Alyass, A., & Meyre, D. (2017) · Obesity Reviews · doi:10.1111/obr.12604 · Cited by 142 · see citing works

RAD51C is a susceptibility gene for ovarian cancer

Pelttari, L. M., Heikkinen, T., Thompson, D. J., Kallioniemi, A. H., Schleutker, J., Holli, K., BLOMQVIST, C. P., Aittomäki, K., Bützow, R. C., & Nevanlinna, H. A. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr229 · Cited by 136 · see citing works

A newly discovered founder population: the Roma/Gypsies

Kalaydjieva, L., Morar, B., Chaix, R., & Tang, H. (2005) · BioEssays · doi:10.1002/bies.20287 · Cited by 125 · see citing works

Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania

Puffenberger, E. G. (2003) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.20003 · Cited by 119 · see citing works

Signatures of founder effects, admixture, and selection in the Ashkenazi Jewish population

Bray, S. M., Mullé, J. G., Dodd, A., Pulver, A. E., Wooding, S., & Warren, S. T. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1004381107 · Cited by 120 · see citing works

No evidence that skewing of X chromosome inactivation patterns is transmitted to offspring in humans

Bolduc, V., Chagnon, P., Provost, S., Dubé, M., Bélisle, C., Gingras, M., Mollica, L. R., & Busque, L. (2007) · Journal of Clinical Investigation · doi:10.1172/jci33166 · Cited by 114 · see citing works

APOE*E2 allele delays age of onset in PSEN1 E280A Alzheimer’s disease

Vélez, J. I., Lopera, F., Sepulveda-Falla, D., Patel, H. R., Johar, A. S., Chuah, A., Tobón, C., Rivera, D., Villegas, A., Cai, Y., et al. (2016) · Molecular Psychiatry · doi:10.1038/mp.2015.177 · Cited by 111 · see citing works

Performance of Some Estimators of Relative Variability

Ospina, R., & Marmolejo‐Ramos, F. (2019) · Frontiers in Applied Mathematics and Statistics · doi:10.3389/fams.2019.00043 · Cited by 113 · see citing works

Vitamin D insufficiency in a sunny environment: a demographic and seasonal analysis.

Oren, Y., Shapira, Y., Agmon‐Levin, N., Kivity, S., Zafrir, Y., Altman, A. A., Lerner, A., & Shoenfeld, Y. (2010) · PubMed · Cited by 107 · see citing works

Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger–Huët anomaly

Максимова, Н. Р., Hara, K., Nikolaeva, I., Chun-Feng, T., Usui, T., Takagi, M., Nishihira, Y., Miyashita, A., Fujiwara, H., Oyama, T., et al. (2010) · Journal of Medical Genetics · doi:10.1136/jmg.2009.074815 · Cited by 106 · see citing works

Genetic variation in the Sorbs of eastern Germany in the context of broader European genetic diversity

Veeramah, K. R., Tönjes, A., Kovacs, P. L., Gross, A., Wegmann, D., Geary, P. J., Gašperíková, D., Klimeś, I., Scholz, M. R., Novembre, J., et al. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2011.65 · Cited by 100 · see citing works

Genome-Wide Association Studies in an Isolated Founder Population from the Pacific Island of Kosrae

Lowe, J. K., Maller, J., Pe’er, I., Neale, B. M., Salit, J., Kenny, E. E., Shea, J., Burkhardt, R., Smith, J. G., Ji, W., et al. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000365 · Cited by 98 · see citing works

Using population isolates in genetic association studies

Hatzikotoulas, K., Gilly, A., & Zeggini, E. (2014) · Briefings in Functional Genomics · doi:10.1093/bfgp/elu022 · Cited by 93 · see citing works

Language Deficits as a Preclinical Window into Parkinson’s Disease: Evidence from Asymptomatic Parkin and Dardarin Mutation Carriers

García, A. M., Sedeño, L., Trujillo, N., Bocanegra, Y., Gómez, D., Pineda, D. A., Villegas, A., Muñoz, É., Arias, W. H., & Ibáñez, A. M. (2017) · Journal of the International Neuropsychological Society · doi:10.1017/s1355617716000710 · Cited by 93 · see citing works

CRISPLD2: a novel NSCLP candidate gene

Chiquet, B. T., Lidral, A. C., Stal, S., Mulliken, J. B., Moreno, L. M., Arco-Burgos, M., Valencia-Ramírez, C., Blanton, S. H., & Hecht, J. T. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm176 · Cited by 88 · see citing works

Influences of environmental bacteria and their metabolites on allergies, asthma, and host microbiota

Jatzlauk, G., Bartel, S., Heine, H., Schloter, M., & Krauss‐Etschmann, S. (2017) · Allergy · doi:10.1111/all.13220 · Cited by 82 · see citing works

Consanguineous Marriage and Its Association With Genetic Disorders in Saudi Arabia: A Review

Khayat, A. M., Alshareef, B. G., Alharbi, S. F., AlZahrani, M. M., Alshangity, B. A., & Tashkandi, N. F. (2024) · Cureus · doi:10.7759/cureus.53888 · Cited by 94 · see citing works

Attention deficit/hyperactivity disorder (ADHD): Complex phenotype, simple genotype?

Acosta, M., Arcos‐Burgos, M., & Muenke, M. (2004) · Genetics in Medicine · doi:10.1097/01.gim.0000110413.07490.0b · Cited by 78 · see citing works

Attention-Deficit/Hyperactivity Disorder and Comorbid Disruptive Behavior Disorders: Evidence of Pleiotropy and New Susceptibility Loci

Jain, M., Palacio, L. G., Castellanos, F. X., Palacio, J. D., Pineda, D. A., Restrepo, M. I., Muñoz, J. F., Lopera, F. J., WALLIS, D. E., Berg, K. A., et al. (2006) · Biological Psychiatry · doi:10.1016/j.biopsych.2006.06.026 · Cited by 77 · see citing works

Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia

Максимова, Н. Р., Hara, K., Miyashia, A., Nikolaeva, I., Shiga, A., Nogovicina, A., Sukhomyasova, A. L., Аргунов, В. А., Shvedova, A., Ikeuchi, T., et al. (2007) · Journal of Medical Genetics · doi:10.1136/jmg.2007.051979 · Cited by 77 · see citing works

Age at onset in Sardinian bipolar I patients: evidence for three subgroups

Manchia, M., Lampus, S. F., Chillotti, C., Sardu, C., Ardau, R., Severino, G., & Zompo, M. D. (2008) · Bipolar Disorders · doi:10.1111/j.1399-5618.2007.00572.x · Cited by 71 · see citing works

Association study in a Sardinian sample between bipolar disorder and the nuclear receptor REV‐ERBα gene, a critical component of the circadian clock system

Severino, G., Manchia, M., Contu, P., Squassina, A., Lampus, S. F., Ardau, R., Chillotti, C., & Zompo, M. D. (2009) · Bipolar Disorders · doi:10.1111/j.1399-5618.2009.00667.x · Cited by 70 · see citing works

Reconstructing the history of founder events using genome-wide patterns of allele sharing across individuals

Tournebize, R., Chu, G., & Moorjani, P. (2022) · PLoS Genetics · doi:10.1371/journal.pgen.1010243 · Cited by 68 · see citing works

Pedigree disequilibrium test (PDT) replicates association and linkage between DRD4 and ADHD in multigenerational and extended pedigrees from a genetic isolate

Arcos-Burgos, M., Castellanos, F., Konecki, D., Lopera, F., Pineda, D., Palacio, J., Rapoport, J., Berg, K., Bailey-Wilson, J., & Muenke, M. (2004) · Molecular Psychiatry · doi:10.1038/sj.mp.4001396 · Cited by 68 · see citing works

Phenotypic Profile of Early-Onset Familial Alzheimer's Disease Caused by Presenilin-1 E280A Mutation

Sepulveda-Falla, D., Glatzel, M., & Lopera, F. (2012) · Journal of Alzheimer's Disease · doi:10.3233/jad-2012-120907 · Cited by 75 · see citing works

Attention-Deficit/Hyperactivity Disorder and Comorbidities in 18 Paisa Colombian Multigenerational Families

Palacio, J. D., Castellanos, F. X., Pineda, D. A., Lopera, F. J., Arcos‐Burgos, M., Quiroz, Y. T., Henao, G. C., Lópera, I. C. P., Ramirez, D., Rapoport, J. L., et al. (2004) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/01.chi.0000142279.79805.dc · Cited by 65 · see citing works

Gene expression and chromosomal location for susceptibility to Sjögren's syndrome

Pérez, P., Anaya, J., Aguilera, S., Urzúa, U., Munroe, D. J., Molina, C., Hermoso, M. A., Cherry, J. M., Alliende, C., Olea, N., et al. (2009) · Journal of Autoimmunity · doi:10.1016/j.jaut.2009.05.001 · Cited by 65 · see citing works

Complementary and Alternative Medicine (CAM): considerations for the treatment of major depressive disorder.

Freeman, M. (2009) · Journal of Clinical Psychiatry · doi:10.4088/jcp.8157su1c.01 · Cited by 50 · see citing works

A population-based study of autosomal-recessive disease-causing mutations in a founder population.

Chong, J. X., Ouwenga, R., Anderson, R. L., Waggoner, D. J., & Ober, C. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.08.007 · Cited by 55 · see citing works

The 312 N variant of the luteinizing hormone/choriogonadotropin receptor gene ( LHCGR ) confers up to 2·7‐fold increased risk of polycystic ovary syndrome in a S ardinian population

Capalbo, A., Sagnella, F., Apa, R., Fulghesu, A. M., Lanzone, A., Morciano, A., Farcomeni, A., Gangalè, M. F., Moro, F., Martínez, D., et al. (2012) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2012.04372.x · Cited by 58 · see citing works

Comprehensive genomic analyses associate UGT8 variants with musical ability in a Mongolian population

Park, H., Lee, S., Kim, H., Ju, Y. S., Shin, J.-Y., Hong, D., von Grotthuss, M., Lee, D.-S., Park, C., Kim, J. H., et al. (2012) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2012-101209 · Cited by 57 · see citing works

Genetic analysis of candidate loci in non‐syndromic cleft lip families from Antioquia‐Colombia and Ohio

Moreno, L. M., Arcos‐Burgos, M., Marazita, M. L., Krahn, K. N., Maher, B. S., Cooper, M. E., Valencia-Ramírez, C., & Lidral, A. C. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.20425 · Cited by 57 · see citing works

Human Races: Classifying People vs Understanding Diversity

Barbujani, G. (2005) · Current Genomics · doi:10.2174/1389202054395973 · Cited by 56 · see citing works

A multifactorial model of pathology for age of onset heterogeneity in familial Alzheimer’s disease

Sepulveda-Falla, D., Chavez-Gutierrez, L., Portelius, E., Vélez, J. I., Dujardin, S., Barrera-Ocampo, A., Dinkel, F., Hagel, C., Puig, B., Mastronardi, C., et al. (2021) · Acta Neuropathologica · doi:10.1007/s00401-020-02249-0 · Cited by 54 · see citing works

A polymorphism in the inducible nitric oxide synthase gene is associated with tuberculosis

Gómez, L. M., Anaya, J., Vilchez, J. R., Cadena, J., Hinojosa, R., Vélez, L., López‐Nevot, M. Á., & Martin, J. J. (2007) · Tuberculosis · doi:10.1016/j.tube.2007.03.002 · Cited by 54 · see citing works

The Druze: A Population Genetic Refugium of the Near East

Shlush, L. I., Behar, D. M., Yudkovsky, G., Templeton, A. R., Hadid, Y., Basis, F., Hammer, M. F., Itzkovitz, S., & Skorecki, K. L. (2008) · PLoS ONE · doi:10.1371/journal.pone.0002105 · Cited by 52 · see citing works

Clinical genetics and the Hutterite population: a review of Mendelian disorders.

Boycott, K. M., Parboosingh, J. S., Chodirker, B. N., Lowry, R. B., McLeod, D. R., Morris, J., Greenberg, C. R., Chudley, A. E., Bernier, F. P., Midgley, J., et al. (2008) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32245 · Cited by 50 · see citing works

Connectivity between island Marine Protected Areas and the mainland

Bell, J. J. (2008) · Biological Conservation · doi:10.1016/j.biocon.2008.08.017 · Cited by 49 · see citing works

Genetic risk of suicidal behavior in bipolar spectrum disorder: analysis of 737 pedigrees

Manchia, M., Hájek, T., O’Donovan, C., Deiana, V., Chillotti, C., Růžičková, M., Zompo, M. D., & Alda, M. (2013) · Bipolar Disorders · doi:10.1111/bdi.12088 · Cited by 48 · see citing works

Heritability and Demographic Analyses in the Large Isolated Population of Val Borbera Suggest Advantages in Mapping Complex Traits Genes

Traglia, M., Sala, C. F., Masciullo, C., Cverhova, V., Lori, F., Pistis, G., Bione, S., Gasparini, P., Ulivi, S., Ciullo, M., et al. (2009) · PLoS ONE · doi:10.1371/journal.pone.0007554 · Cited by 46 · see citing works

The Saguenay-Lac-Saint-Jean asthma familial collection: the genetics of asthma in a young founder population

Laprise, C. (2014) · Genes and Immunity · doi:10.1038/gene.2014.12 · Cited by 47 · see citing works

Genetic studies of neuropsychiatric disorders in Costa Rica: a model for the use of isolated populations

Mathews, C. A., Reus, V. I., Bejarano, J., Escamilla, M., Fournier, E., Herrera, L. D., Lowe, T. L., McInnes, L. A., Molina, J., Ophoff, R. A., et al. (2004) · Psychiatric Genetics · doi:10.1097/00041444-200403000-00003 · Cited by 45 · see citing works

Preliminary Transcriptome Analysis in Lymphoblasts from Cluster Headache and Bipolar Disorder Patients Implicates Dysregulation of Circadian and Serotonergic Genes

Costa, M., Squassina, A., Piras, I. S., Pisanu, C., Congiu, D., Niola, P., Angius, A., Chillotti, C., Ardau, R., Severino, G., et al. (2015) · Journal of Molecular Neuroscience · doi:10.1007/s12031-015-0567-9 · Cited by 44 · see citing works

Unique disease heritage of the Dutch‐German Mennonite population

Orton, N. C., Innes, A. M., Chudley, A. E., & Bech‐Hansen, N. T. (2008) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32061 · Cited by 44 · see citing works

New susceptibility locus for hypertension on chromosome 8q by efficient pedigree-breaking in an Italian isolate

Ciullo, M., Bellenguez, C., Colonna, V., Nutile, T., Calabria, A., Pacente, R., Iovino, G., Trimarco, B., Bourgain, C., & Persico, M. G. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl097 · Cited by 43 · see citing works

Toward a better understanding of ADHD: LPHN3 gene variants and the susceptibility to develop ADHD

Arcos-Burgos, M., & Muenke, M. (2010) · Attention deficit and hyperactivity disorders · doi:10.1007/s12402-010-0030-2 · Cited by 39 · see citing works

Candidate high myopia loci on chromosomes 18p and 12q do not play a major role in susceptibility to common myopia

Ibay, G., Doan, B. Q., Reider, L., Dana, D., Schlifka, M., Hu, H., Holmes, T. N., O'Neill, J., Owens, R., Ciner, E. B., et al. (2004) · BMC Medical Genetics · doi:10.1186/1471-2350-5-20 · Cited by 42 · see citing works

GWAS reveals new recessive loci associated with non-syndromic facial clefting

Camargo, M., Rivera, D., Moreno, L. M., Lidral, A. C., Harper, U. L., Jones, M. S., Solomon, B. D., Roessler, E., Velez, J. I., Martinez, A. F., et al. (2012) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2012.06.005 · Cited by 40 · see citing works

Amish, Mennonite, and Hutterite Genetic Disorder Database

Payne, M., Rupar, C. A., Siu, G. M., & Siu, V. M. (2011) · Paediatrics & Child Health · doi:10.1093/pch/16.3.e23 · Cited by 40 · see citing works

Genetics and Genomic Medicine in Colombia

Castro, M. J. D., & Restrepo, C. M. (2015) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.139 · Cited by 39 · see citing works

Mutational load, inbreeding depression and heterosis in subdivided populations

Charlesworth, B. (2018) · Molecular Ecology · doi:10.1111/mec.14933 · Cited by 36 · see citing works

High Differentiation among Eight Villages in a Secluded Area of Sardinia Revealed by Genome-Wide High Density SNPs Analysis

Pistis, G., Piras, I. S., Pirastu, N., Persico, I., Sassu, A., Picciau, A., Prodi, D. A., Fraumene, C., Mocci, E., Manias, M. T., et al. (2009) · PLoS ONE · doi:10.1371/journal.pone.0004654 · Cited by 35 · see citing works

Association of metabolic parameters and rs726344 in FNDC5 with serum irisin concentrations

Ebert, T., Kralisch, S., Wurst, U., Scholz, M. R., Stümvoll, M., Kovacs, P. L., Faßhauer, M., & Tönjes, A. (2015) · International Journal of Obesity · doi:10.1038/ijo.2015.157 · Cited by 35 · see citing works

Genetic structure of the Newfoundland and Labrador population: founder effects modulate variability

Zhai, G., Zhou, J., Woods, M. O., Green, J. S., Parfrey, P. S., Rahman, P., & Green, R. C. (2015) · European Journal of Human Genetics · doi:10.1038/ejhg.2015.256 · Cited by 34 · see citing works

Migraine and tumour necrosis factor gene polymorphism

Asuni, C., Stochino, M. E., Cherchi, A., Manchia, M., Congiu, D., Manconi, M., Squassina, A., Piccardi, M. P., & Zompo, M. D. (2009) · Journal of Neurology · doi:10.1007/s00415-009-0961-8 · Cited by 34 · see citing works

Attention‐deficit/hyperactivity disorder (ADHD): feasibility of linkage analysis in a genetic isolate using extended and multigenerational pedigrees

Arcos‐Burgos, M., Castellanos, F. X., Lopera, F. J., Pineda, D. A., Palacio, J. D., García-Barrera, M. A., Henao, G., Palacio, L., Berg, K., Bailey‐Wilson, J. E., et al. (2002) · Clinical Genetics · doi:10.1034/j.1399-0004.2002.610503.x · Cited by 33 · see citing works

Heterogeneous distribution of BRAF/NRAS mutations among Italian patients with advanced melanoma

Colombino, M., Lissia, A., Capone, M., GIORGI, V. D., Massi, D., Stanganelli, I., Fonsatti, E., Maio, M., Botti, G., Caracò, C., et al. (2013) · Journal of Translational Medicine · doi:10.1186/1479-5876-11-202 · Cited by 33 · see citing works

Population-genetic comparison of the Sorbian isolate population in Germany with the German KORA population using genome-wide SNP arrays

Gross, A., Tönjes, A., Kovacs, P. L., Veeramah, K. R., Ahnert, P., Roshyara, N. R., Gieger, C., Rueckert, I.-M., Loeffler, M., Stoneking, M., et al. (2011) · BMC Genetics · doi:10.1186/1471-2156-12-67 · Cited by 32 · see citing works

Metric and non-metric randomization methods, geographic variation, and the single-species hypothesis for Asian and African Homo erectus

Villmoare, B. A. (2005) · Journal of Human Evolution · doi:10.1016/j.jhevol.2005.07.005 · Cited by 32 · see citing works

Linkage and association of successful aging to the 6q25 region in large Amish kindreds

Edwards, D. R. V., Gilbert, J. R., Hicks, J. E., Myers, J. L., Jiang, L., Cummings, A. C., Guo, S., Gallins, P. J., Konidari, I., Caywood, L. J., et al. (2012) · AGE · doi:10.1007/s11357-012-9447-1 · Cited by 32 · see citing works

The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations

Yan, D. L. S., Kannan-Sundhari, A., Vishwanath, S., Jie, Q., Mittal, R., Kameswaran, M., & Liu, X. Z. (2015) · Genetic Testing and Molecular Biomarkers · doi:10.1089/gtmb.2015.0023 · Cited by 32 · see citing works

Genetic analysis of ALS cases in the isolated island population of Malta

Borg, R. M., Wismayer, M. F., Bonavia, K., Wismayer, A. F., Vella, M., van Vugt, J. J. F. A., Kenna, B., Kenna, K. P., Vassallo, N., Veldink, J. H., et al. (2021) · European Journal of Human Genetics · doi:10.1038/s41431-020-00767-9 · Cited by 31 · see citing works

Campora: A Young Genetic Isolate in South Italy

Colonna, V., Nutile, T., Astore, M., Guardiola, O., Antoniol, G., Ciullo, M., & Persico, M. G. (2007) · Human Heredity · doi:10.1159/000101964 · Cited by 31 · see citing works

Extensive genome-wide autozygosity in the population isolates of Daghestan

Karafet, T. M., Bulayeva, K., Bulayev, O. A., Gurgenova, F., Omarova, J., Yepiskoposyan, L., Savina, O. V., Veeramah, K. R., & Hammer, M. F. (2015) · European Journal of Human Genetics · doi:10.1038/ejhg.2014.299 · Cited by 30 · see citing works

Diversity matters: opportunities in the study of the genetics of psychotic disorders in low- and middle-income countries in Latin America

Fonseca, L., Sena, B. F., Crossley, N. A., López‐Jaramillo, C., Koenen, K. C., Freimer, N. B., Bressan, R. A., Belangero, S. I., Santoro, M. L., & Gadelha, A. (2020) · Brazilian Journal of Psychiatry · doi:10.1590/1516-4446-2020-1240 · Cited by 30 · see citing works

An 1H‐MRS framework predicts the onset of Alzheimer's disease symptoms in PSEN1 mutation carriers

Londoño, A. C., Castellanos, F. X., Arbeláez, A., Ruiz‐Rizzo, A. L., Aguirre–Acevedo, D. C., Richardson, A., Easteal, S., Lidbury, B. A., Arcos‐Burgos, M., & Lopera, F. J. (2013) · Alzheimer s & Dementia · doi:10.1016/j.jalz.2013.08.282 · Cited by 30 · see citing works

Clinical Applications and Implications of Common and Founder Mutations in Indian Subpopulations

Ankala, A., Tamhankar, P. M., Valencia, C. A., Rayam, K. K., Kumar, M. M., & Hegde, M. (2014) · Human Mutation · doi:10.1002/humu.22704 · Cited by 30 · see citing works

The PDLIM5 gene and lithium prophylaxis: An association and gene expression analysis in Sardinian patients with bipolar disorder

Squassina, A., Congiu, D., Manconi, F., Manchia, M., Chillotti, C., Lampus, S. F., Severino, G., & Zompo, M. D. (2008) · Pharmacological Research · doi:10.1016/j.phrs.2008.03.011 · Cited by 30 · see citing works

Kinship and Demographic Behavior in the Past

Bengtsson, T., & Mineau, G. P. (2008) · Springer eBooks · doi:10.1007/978-1-4020-6733-4 · Cited by 30 · see citing works

Increased power of mixed models facilitates association mapping of 10 loci for metabolic traits in an isolated population

Kenny, E. E., Kim, M., Gusev, A., Lowe, J. K., Salit, J., Smith, J. G., Kovvali, S., Kang, H. M., Newton‐Cheh, C., Daly, M. J., et al. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq510 · Cited by 27 · see citing works

Inbreeding estimates in human populations: Applying new approaches to an admixed Brazilian isolate

Lemes, R. B., Nunes, K., Carnavalli, J. E. P., Kimura, L., Mingroni‐Netto, R. C., Meyer, D., & Otto, P. A. (2018) · PLoS ONE · doi:10.1371/journal.pone.0196360 · Cited by 29 · see citing works

Genetics of Type 2 Diabetes: the Power of Isolated Populations

Andersen, M. K., Pedersen, C. T., Moltke, I., Hansen, T. F., Albrechtsen, A., & Grarup, N. (2016) · Current Diabetes Reports · doi:10.1007/s11892-016-0757-z · Cited by 27 · see citing works

Analysis of brain metabolism by proton magnetic resonance spectroscopy (1H-MRS) in attention-deficit/hyperactivity disorder suggests a generalized differential ontogenic pattern from controls

Arcos-Burgos, M., Londoño, A. C., Pineda, D. A., Lopera, F., Palacio, J. D., Arbelaez, A., Acosta, M. T., Vélez, J. I., Castellanos, F. X., & Muenke, M. (2012) · ADHD Attention Deficit and Hyperactivity Disorders · doi:10.1007/s12402-012-0088-0 · Cited by 26 · see citing works

No association between lithium full responders and the DRD1, DRD2, DRD3, DAT1, 5-HTTLPR and HTR2A genes in a Sardinian sample

Manchia, M., Congiu, D., Squassina, A., Lampus, S. F., Ardau, R., Chillotti, C., Severino, G., & Zompo, M. D. (2009) · Psychiatry Research · doi:10.1016/j.psychres.2008.12.004 · Cited by 26 · see citing works

Alzheimer's disease: Case‐control association study of polymorphisms in ACHE, CHAT, and BCHE genes in a Sardinian sample

Piccardi, M., Congiu, D., Squassina, A., Manconi, F., Putzu, P. F., Mereu, R. M., Chillotti, C., & Zompo, M. D. (2007) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30548 · Cited by 26 · see citing works

Genetic Isolates in Ophthalmic Diseases

Sherwin, J. C., Hewitt, A. W., Ruddle, J. B., & Mackey, D. A. (2008) · Ophthalmic Genetics · doi:10.1080/13816810802334341 · Cited by 25 · see citing works

A Mutation in<i>DAOA</i>Modifies the Age of Onset in<i>PSEN1</i>E280A Alzheimer’s Disease

Vélez, J. I., Rivera, D., Mastronardi, C. A., Patel, H. R., Tobón, C., Villegas, A., Cai, Y., Easteal, S., Lopera, F., & Arcos-Burgos, M. (2016) · Neural Plasticity · doi:10.1155/2016/9760314 · Cited by 25 · see citing works

Consanguinity in Saudi Arabia: A Unique Opportunity for Pediatric Kidney Research

Kari, J. A., Böckenhauer, D., Stanescu, H. C., Gari, M. A., Kleta, R., & Singh, A. K. (2013) · American Journal of Kidney Diseases · doi:10.1053/j.ajkd.2013.08.033 · Cited by 24 · see citing works

Análisis de isonimia entre poblaciones del noroeste de Colombia

Bedoya, G., Valencia, J. G., Montoya, P., Rojas, W., Amézquita, M. E., Soto‐Calderón, I. D., López, M. C., Ospina‐Duque, J., & Ruiz‐Linares, A. (2006) · Biomédica · doi:10.7705/biomedica.v26i4.323 · Cited by 24 · see citing works

Genetic study of Sardinian patients with Alzheimer's disease

Piscopo, P., Manfredi, A., Malvezzi‐Campeggi, L., Crestini, A., Spadoni, O., Cherchi, R., Deiana, E., Piras, M. R., & Confaloni, A. (2006) · Neuroscience Letters · doi:10.1016/j.neulet.2005.12.063 · Cited by 24 · see citing works

Prevalence of Jews as subjects in genetic research: Figures, explanation, and potential implications

Birenbaum‐Carmeli, D. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.20291 · Cited by 23 · see citing works

Nonadaptive processes in primate and human evolution

Harris, E. E. (2010) · American Journal of Physical Anthropology · doi:10.1002/ajpa.21439 · Cited by 23 · see citing works

Genetic Influences on Type 2 Diabetes and Metabolic Syndrome Related Quantitative Traits in Mauritius

Jowett, J. B. M., Diego, V. P., Kotea, N., Kowlessur, S., Chitson, P., Dyer, T. D., Zimmet, P., & Blangero, J. (2009) · Twin Research and Human Genetics · doi:10.1375/twin.12.1.44 · Cited by 23 · see citing works

A microsatellites-based survey on the genetic structure of two Italian local chicken breeds

Bianchi, M., Ceccobelli, S., Landi, V., Lorenzo, P. D., Lasagna, E., Ciocchetti, M., Şahin, E., Mugnai, C., Panella, F., & Sarti, F. M. (2011) · Italian Journal of Animal Science · doi:10.4081/ijas.2011.e39 · Cited by 23 · see citing works

Age-related hearing loss in four Italian genetic isolates: An epidemiological study

Bedin, E., Franzè, A., Zadro, C., Persico, M. G., Ciullo, M., Hladnik, U., Dolcetta, D., Grasso, D. L., Riccardi, P., Nutile, T., et al. (2009) · International Journal of Audiology · doi:10.1080/14992020902822039 · Cited by 22 · see citing works

Complex Genetics of Type 2 Diabetes and Effect Size: What have We Learned from Isolated Populations?

Nair, A. K., & Baier, L. J. (2015) · The Review of Diabetic Studies · doi:10.1900/rds.2015.12.299 · Cited by 20 · see citing works

Genetic reconstruction and phylogenetic analysis by 193 Y‐SNPs and 27 Y‐STRs in a Chinese Yi ethnic group

Wang, F., Song, F., Song, M., Li, J., Xie, M., & Hou, Y. (2021) · Electrophoresis · doi:10.1002/elps.202100003 · Cited by 22 · see citing works

Genetic diversity and conservation in a small endangered horse population

Jánová, E., Futas, J., Klumplerová, M., Putnová, L., Vrtková, I., Vyskočil, M., Frolková, P., & Hořín, P. (2013) · Journal of Applied Genetics · doi:10.1007/s13353-013-0151-3 · Cited by 22 · see citing works

Minocycline protects, rescues and prevents knockdown transgenic parkin Drosophila against paraquat/iron toxicity: Implications for autosomic recessive juvenile parkinsonism

Ortega‐Arellano, H. F., Jiménez-Del-Río, M., & Velez‐Pardo, C. (2017) · NeuroToxicology · doi:10.1016/j.neuro.2017.03.002 · Cited by 22 · see citing works

A Family Study in Oman: Large, Consanguineous, Polygamous Omani Arab Pedigrees

Hassan, M. O., Albarwani, S., Yahyaee, S. A., Al‐Hadabi, S., Rizwi, S., Jaffer, A. M., Al-Lawati, J. A., Cai, G., Comuzzie, A. G., & Bayoumi, R. (2005) · Public Health Genomics · doi:10.1159/000083341 · Cited by 22 · see citing works

Founder variations in isolated populations

Chavarría‐Soley, G., Rojas, J. C., & Raventós, H. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-817819-5.00006-1 · Cited by 2 · see citing works

Gene Mapping in Isolated Populations: New Roles for Old Friends?

Jorde, L. B., Watkins, W. S., Kere, J., Nyman, D., & Eriksson, A. W. (1999) · Human Heredity · doi:10.1159/000022891 · Cited by 72 · see citing works

Use of isolated inbred human populations for identification of disease genes

Sheffield, V. C., Stone, E. M., & Carmi, R. (1998) · Trends in Genetics · doi:10.1016/s0168-9525(98)01556-x · Cited by 128 · see citing works

Isolated Populations and Common Variants

Rehnström, K., & Peltonen, L. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195371826.003.0049

The Newfoundland population: a unique resource for genetic investigation of complex diseases

Rahman, P., Jones, A., Curtis, J. A., Bartlett, S. E., Peddle, L., Fernandez, B. A., & Freimer, N. B. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg257 · Cited by 111 · see citing works