Analysis of Human Genetic Linkage

Genetic architectures of psychiatric disorders: the emerging picture and its implications

Sullivan, P. F., Daly, M. J., & O'Donovan, M. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3240 · Cited by 1,177

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 simple new approach to variable selection in regression, with application to genetic fine mapping

Wang, G., Sarkar, A., Carbonetto, P., & Stephens, M. (2020) · Journal of the Royal Statistical Society Series B (Statistical Methodology) · doi:10.1111/rssb.12388 · Cited by 1,121

Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency

Grimbacher, B., Hutloff, A., Schlesier, M., Glocker, E. O., Warnatz, K., Dräger, R., Eibel, H., Fischer, B., Schäffer, A. A., Mages, H. W., et al. (2003) · Nature Immunology · doi:10.1038/ni902 · Cited by 731

A genome screen in multiple sclerosis reveals susceptibility loci on chromosome 6p21 and 17q22

Sawcer, S. J., Jones, H. B., Feakes, R. W., Gray, J., Smaldon, N., Chataway, J., Robertson, N. P., Clayton, D. G., Goodfellow, P. N., & Compston, A. (1996) · Nature Genetics · doi:10.1038/ng0896-464 · Cited by 643

The Bayesian revolution in genetics

Beaumont, M., & Rannala, B. H. (2004) · Nature Reviews Genetics · doi:10.1038/nrg1318 · Cited by 537

Location of a Major Susceptibility Locus for Familial Schizophrenia on Chromosome 1q21-q22

Brzustowicz, L. M., Hodgkinson, K. A., Chow, E. W. C., Honer, W. G., & Bassett, A. S. (2000) · Science · doi:10.1126/science.288.5466.678 · Cited by 516

Germline mutations and sequence variants of the macrophage scavenger receptor 1 gene are associated with prostate cancer risk

Xu, J., Zheng, S. L., Komiya, A., Mychaleckyj, J. C., Isaacs, S. D., Hu, J. J., Sterling, D. A., Lange, E. M., Hawkins, G. A., Turner, A. R., et al. (2002) · Nature Genetics · doi:10.1038/ng994 · Cited by 392

The etiology of autoimmune thyroid disease: A story of genes and environment

Tomer, Y., & Huber, A. K. (2009) · Journal of Autoimmunity · doi:10.1016/j.jaut.2009.02.007 · Cited by 359

A Genetic Map in theMimulus guttatusSpecies Complex Reveals Transmission Ratio Distortion due to Heterospecific Interactions

Fishman, L., Kelly, A. J., Morgan, E. A., & Willis, J. H. (2001) · Genetics · doi:10.1093/genetics/159.4.1701 · Cited by 334

A new locus for hereditary haemorrhagic telangiectasia ( HHT3 ) maps to chromosome 5

Cole, S. G., Begbie, M. E., Wallace, G. M. F., et al. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2004.028712 · Cited by 320

A Genomewide Scan for Loci Predisposing to Type 2 Diabetes in a U.K. Population (The Diabetes UK Warren 2 Repository): Analysis of 573 Pedigrees Provides Independent Replication of a Susceptibility Locus on Chromosome 1q

Wiltshire, S., Hattersley, A. T., Hitman, G. A., Walker, M., Lévy, J., Sampson, M., O’Rahilly, S., Frayling, T. M., Bell, J. I., Lathrop, M. G., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/323249 · Cited by 303

Deconstructing a Syndrome: Genomic Insights Into PCOS Causal Mechanisms and Classification

Dapas, M., & Dunaif, A. (2022) · Endocrine Reviews · doi:10.1210/endrev/bnac001 · Cited by 300

Genetic linkage analysis in the age of whole-genome sequencing

Ott, J., Wang, J., & Leal, S. M. (2015) · Nature Reviews Genetics · doi:10.1038/nrg3908 · Cited by 306

Mathematical multi-locus approaches to localizing complex human trait genes

Hoh, J. J., & Ott, J. (2003) · Nature Reviews Genetics · doi:10.1038/nrg1155 · Cited by 275

Family-based designs for genome-wide association studies

Ott, J., Kamatani, Y., & Lathrop, M. G. (2011) · Nature Reviews Genetics · doi:10.1038/nrg2989 · Cited by 278

Genomic screen and follow‐up analysis for autistic disorder

Shao, Y., Wolpert, C. M., Raiford, K. L., Menold, M. M., Donnelly, S. L., Ravan, S. A., Bass, M. P., McClain, C., von Wendt, L., Vance, J. M., et al. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.10153 · Cited by 252

Genetic basis of total colourblindness among the Pingelapese islanders

Sundin, O. H., Yang, J.-M., Li, Y., Zhu, D., Hurd, J. N., Mitchell, T. N., Silva, E. D., & Maumenee, I. H. (2000) · Nature Genetics · doi:10.1038/77162 · Cited by 242

INVITED REVIEW: Quantitative trait locus mapping in natural populations: progress, caveats and future directions

Slate, J. (2004) · Molecular Ecology · doi:10.1111/j.1365-294x.2004.02378.x · Cited by 236

Genetic Susceptibility to Autoimmune Thyroid Disease: Past, Present, and Future

Tomer, Y. (2010) · Thyroid · doi:10.1089/thy.2010.1644 · Cited by 233

The Relationship Between Microsatellite Slippage Mutation Rate and the Number of Repeat Units

Lai, Y. (2003) · Molecular Biology and Evolution · doi:10.1093/molbev/msg228 · Cited by 227

Common and Unique Susceptibility Loci in Graves and Hashimoto Diseases: Results of Whole-Genome Screening in a Data Set of 102 Multiplex Families

Tomer, Y., Ban, Y., Concepcion, E., Barbesino, G., Villanueva, R., Greenberg, D. A., & Davies, T. F. (2003) · The American Journal of Human Genetics · doi:10.1086/378588 · Cited by 223

Familial Hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3.

MacRae, C. A., Ghaisas, N., Kass, S., Donnelly, S., Basson, C. T., Watkins, H. C., Anan, R., Thierfelder, L., McGarry, K., & Rowland, E. (1995) · Journal of Clinical Investigation · doi:10.1172/jci118154 · Cited by 219

Integrating physical and genetic maps: from genomes to interaction networks

Beyer, A., Bandyopadhyay, S., & Ideker, T. (2007) · Nature Reviews Genetics · doi:10.1038/nrg2144 · Cited by 207

DNA variation and the future of human genetics

Schafer, A. J., & Hawkins, J. R. (1998) · Nature Biotechnology · doi:10.1038/nbt0198-33 · Cited by 210

Increased risk of lung cancer in individuals with a family history of the disease: A pooled analysis from the International Lung Cancer Consortium

Coté, M. L., Liu, M., Bonassi, S., Neri, M., Schwartz, A. G., Christiani, D. C., Spitz, M. R., Muscat, J. E., Rennert, G., Aben, K. K. H., et al. (2012) · European Journal of Cancer · doi:10.1016/j.ejca.2012.01.038 · Cited by 215

Genome-wide scan for schizophrenia in the Finnish population: evidence for a locus on chromosome 7q22

Ekelund, J. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.7.1049 · Cited by 206

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

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

Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes

Sharma, S., Gao, X., Londoño, D., Devroy, S. E., Mauldin, K., Frankel, J. T., Brandon, J., Zhang, D., Li, Q., Dobbs, M. B., et al. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddq571 · Cited by 203

Molecular genetics of growth and development in Populus. III. A genetic linkage map of a hybrid poplar composed of RFLP, STS, and RAPD markers

Bradshaw, H. D., Villar, M., Watson, B., et al. (1994) · Theoretical and Applied Genetics · doi:10.1007/bf00225137 · Cited by 201

A genome-wide scan for preeclampsia in the Netherlands

Lachmeijer, A. M. A., Arngrı́msson, R., Bastiaans, E., et al. (2001) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200706 · Cited by 200

Genetic Studies of Autistic Disorder and Chromosome 7

Ashley‐Koch, A. E., Wolpert, C. M., Menold, M. M., Zaeem, L., Basu, S., Donnelly, S. L., Ravan, S. A., Powell, C. M., Qumsiyeh, M. Β., Aylsworth, A. S., et al. (1999) · Genomics · doi:10.1006/geno.1999.5968 · Cited by 195

Self-recognition, color signals, and cycles of greenbeard mutualism and altruism

Sinervo, B., Chaine, A. S., Clobert, J., et al. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0510260103 · Cited by 179

VARIATION IN HUMAN MEIOTIC RECOMBINATION

Lynn, A. H., Ashley, T., & Hassold, T. J. (2004) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.4.070802.110217 · Cited by 177

Subclinical intestinal inflammation: an inherited abnormality in Crohn’s disease relatives?

Þjóðleifsson, B., Sigthorsson, G., Cariglia, N., Reynisdóttir, I., Gudbjartsson, D. F., Kristjánsson, K., Meddings, J. B., Gudnason, V. G., Wandall, J. H., Andersen, L. P., et al. (2003) · Gastroenterology · doi:10.1016/s0016-5085(03)00383-4 · Cited by 173

Ordered subset analysis in genetic linkage mapping of complex traits

Hauser, E. R., Watanabe, R. M., Duren, W. L., Bass, M. P., Langefeld, C. D., & Boehnke, M. (2004) · Genetic Epidemiology · doi:10.1002/gepi.20000 · Cited by 174

Phenotypic Homogeneity Provides Increased Support for Linkage on Chromosome 2 in Autistic Disorder

Shao, Y., Raiford, K. L., Wolpert, C. M., Cope, H., Ravan, S. A., Ashley‐Koch, A. E., Abramson, R. K., Wright, H. H., DeLong, R. G., Gilbert, J. R., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/339765 · Cited by 172

Reelin gene alleles and susceptibility to autism spectrum disorders

Zhang, H., Liu, X., Zhang, C., Mundo, E., Macciardi, F. M., Grayson, D. R., Guidotti, A. R., & Holden, J. J. A. (2002) · Molecular Psychiatry · doi:10.1038/sj.mp.4001124 · Cited by 168

Gene for susceptibility to diabetic nephropathy in type 2 diabetes maps to 18q22.3-23

Vardarli, I., Baier, L. J., Hanson, R. L., Akkoyun, İ., Fischer, C., Rohmeiss, P., Başçı, A., Bartram, C. R., van der Woude, F. J., & Janssen, B. J. (2002) · Kidney International · doi:10.1046/j.1523-1755.2002.00663.x · Cited by 166

A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females

Sharma, S., Londoño, D., Eckalbar, W. L., Gao, X., Zhang, D., Mauldin, K., Kou, I., Takahashi, A., Matsumoto, M., Kamiya, N., et al. (2015) · Nature Communications · doi:10.1038/ncomms7452 · Cited by 158

The Consortium on the Genetics of Endophenotypes in Schizophrenia: Model Recruitment, Assessment, and Endophenotyping Methods for a Multisite Collaboration

Calkins, M. E., Dobie, D. J., Cadenhead, K. S., D, A. O. M., Freedman, R., Green, M. F., Greenwood, T. A., Gur, R. E., Gur, R. C., Light, G. A., et al. (2006) · Schizophrenia Bulletin · doi:10.1093/schbul/sbl044 · Cited by 160

The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1

Benomar, A., Krols, L., Stévanin, G., Cancel‐Tassin, G., Leguern, É., David, G., Ouhabi, H., Martin, J., Dürr, A., Zaǐm, A., et al. (1995) · Nature Genetics · doi:10.1038/ng0595-84 · Cited by 160

Genomewide Scan for Prostate Cancer–Aggressiveness Loci

Witte, J. S., Goddard, K. A. B., Conti, D. V., Elston, R. C., Lin, J., Suarez, B. K., Broman, K. W., Burmester, J. K., Weber, J. L., & Catàlona, W. J. (2000) · The American Journal of Human Genetics · doi:10.1086/302960 · Cited by 158

The use of pedigree, sib-pair and association studies of common diseases for genetic mapping and epidemiology

Freimer, N. B., & Sabatti, C. (2004) · Nature Genetics · doi:10.1038/ng1433 · Cited by 152

A Genetic Locus for Adolescent Idiopathic Scoliosis Linked to Chromosome 19p13.3

Chan, V., Fong, G. C. Y., Luk, K. D. K., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/341607 · Cited by 156

Genetic basis for clinical expression in multiple sclerosis

The Multiple Sclerosis Genetics Group, Barcellos, L. F., Oksenberg, J. R., Green, A. J., Bucher, P., Rimmler, J. B., Schmidt, S., Garcia, M., Lincoln, R., Pericak‐Vance, M. A., et al. (2002) · Brain · doi:10.1093/brain/awf009 · Cited by 154

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

Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p

Gouw, L. G., Kaplan, C. D., Haines, J. H., Digre, K. B., Rutledge, S. L., Matilla‐Dueñas, A., Leppert, M., Zoghbi, H. Y., & Ptáček, L. J. (1995) · Nature Genetics · doi:10.1038/ng0595-89 · Cited by 152

Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata

Martı́nez-Mir, A., Zlotogorski, A., Gordon, D., Petukhova, L., Mo, J., Gilliam, T. C., Londoño, D., Haynes, C. A., Ott, J., Hordinsky, M., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/511442 · Cited by 151

Evidence for Genetic Linkage Between a Polymorphism in the Adenosine 2A Receptor and Panic Disorder

Hamilton, S. P., Slager, S. L., Baisre, A., Heiman, G. A., Klein, D. F., Hodge, S. E., Weissman, M. M., Fyer, A. J., & Knowles, J. A. (2003) · Neuropsychopharmacology · doi:10.1038/sj.npp.1300311 · Cited by 147

A Combined Genomewide Linkage Scan of 1,233 Families for Prostate Cancer–Susceptibility Genes Conducted by the International Consortium for Prostate Cancer Genetics

Xu, J., Dimitrov, L. M., Chang, B., Adams, T. S., Turner, A. R., Meyers, D. A., Eeles, R. A., Easton, D. F., Foulkes, W. D., Simard, J., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/432377 · Cited by 146

Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2

Pollak, M. R., Chou, Y. W., Cerda, J. J., et al. (1993) · Nature Genetics · doi:10.1038/ng1093-201 · Cited by 142

Ignoring Linkage Disequilibrium among Tightly Linked Markers Induces False-Positive Evidence of Linkage for Affected Sib Pair Analysis

Huang, Q., Shete, S. S., & Amos, C. I. (2004) · The American Journal of Human Genetics · doi:10.1086/426000 · Cited by 140

Novel Vitiligo Susceptibility Loci on Chromosomes 7 (AIS2) and 8 (AIS3), Confirmation of SLEV1 on Chromosome 17, and Their Roles in an Autoimmune Diathesis

Spritz, R. A., Gowan, K., Bennett, D. C., & Fain, P. R. (2004) · The American Journal of Human Genetics · doi:10.1086/381134 · Cited by 135

CTLA-4 and Not CD28 Is a Susceptibility Gene for Thyroid Autoantibody Production

Tomer, Y., Greenberg, D. A., Barbesino, G., Concepcion, E., & Davies, T. F. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.86.4.7372 · Cited by 152

Integrating QTL and high-density SNP analyses in mice to identify Insig2 as a susceptibility gene for plasma cholesterol levels

Cervino, A., Li, G., Edwards, S., Zhu, J., Laurie, C. C., Tokiwa, G. Y., Lum, P. Y., Wang, S. S.-M., Castellini, L. W., Lusis, A. J., et al. (2005) · Genomics · doi:10.1016/j.ygeno.2005.07.010 · Cited by 134

Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease

Gülsüner, H. Ü., Gülsüner, S., Mercan, F. N., Onat, O. E., Walsh, T., Shahin, H., Lee, M. K., Doğu, O., Kansu, T., Topaloğlu, H., et al. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1419581111 · Cited by 134

Genetic Linkage Map of the Eastern Oyster Crassostrea virginica Gmelin

Yu, Z., & Guo, X. (2003) · Biological Bulletin · doi:10.2307/1543603 · Cited by 134

Association of functional polymorphisms of matrix metalloproteinase (MMP)‐1 and MMP‐3 genes with colorectal cancer

Hinoda, Y., Okayama, N., Takano, N., et al. (2002) · International Journal of Cancer · doi:10.1002/ijc.10750 · Cited by 131

Analysis of chromosome 22 markers in nine schizophrenia pedigrees

Coon, H. H., Holik, J., Hoff, M., Reimherr, F. W., Wender, P. H., Myles‐Worsley, M., Waldo, M. C., Freedman, R., & Byerley, W. (1994) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320540112 · Cited by 126

A novel deletion in progranulin gene is associated with FTDP-17 and CBS

Benussi, L., Binetti, G. G., Sina, E., Gigola, L., Bettecken, T., Meitinger, T., & Ghidoni, R. (2006) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2006.10.028 · Cited by 126

A combination of three common inherited mitochondrial DNA polymorphisms promotes longevity in Finnish and Japanese subjects

Niemi, A., Moilanen, J. S., Tanaka, M., Hervonen, A., Hurme, M., Lehtimäki, T. J., Arai, Y., Hirose, N., & Majamaa, K. (2004) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201308 · Cited by 125

Generalized T2 Test for Genome Association Studies

Xiong, M., Zhao, J., & Boerwinkle, E. (2002) · The American Journal of Human Genetics · doi:10.1086/340392 · Cited by 124

SSRs and INDELs mined from the sunflower EST database: abundance, polymorphisms, and cross-taxa utility

Heesacker, A. F., Kishore, V. K., Gao, W., Tang, S., Kolkman, J. M., Gingle, A. R., Matvienko, M., Kozik, A., Michelmore, R. W., Lai, Z., et al. (2008) · Theoretical and Applied Genetics · doi:10.1007/s00122-008-0841-0 · Cited by 120

SLC25A22 is a novel gene for migrating partial seizures in infancy

Poduri, A., Heinzen, E. L., Chitsazzadeh, V., Lasorsa, F. M., Elhosary, P. C., LaCoursiere, C. M., Martin, E., Yuskaitis, C. J., Hill, R. S., Atabay, K. D., et al. (2013) · Annals of Neurology · doi:10.1002/ana.23998 · Cited by 117

Family-based association analysis of β2-adrenergic receptor polymorphisms in the childhood asthma management program

Silverman, E. K., Kwiatkowski, D. J., Sylvia, J. S., et al. (2003) · Journal of Allergy and Clinical Immunology · doi:10.1016/s0091-6749(03)02023-2 · Cited by 119

Progress in searching for susceptibility loci and genes for smoking‐related behaviour

Li, M., Ma, J., & Beuten, J. (2004) · Clinical Genetics · doi:10.1111/j.1399-0004.2004.00302.x · Cited by 118

A novel locus for inherited myoclonus-dystonia on 18p11

Grimes, D. A., Han, F., Lang, A. E., George-Hyssop, P. S., Racacho, L., & Bulman, D. E. (2002) · Neurology · doi:10.1212/wnl.59.8.1183 · Cited by 117

Fine Mapping of the Chromosome 12 Late-Onset Alzheimer Disease Locus: Potential Genetic and Phenotypic Heterogeneity

Scott, W. K., Grubber, J. M., Conneally, P. M., Small, G. W., Hulette, C. M., Rosenberg, C. K., Saunders, A. M., Roses, A. D., Haines, J. L., & Pericak‐Vance, M. A. (2000) · The American Journal of Human Genetics · doi:10.1086/302828 · Cited by 114

High-Resolution Multipoint Linkage-Disequilibrium Mapping in the Context of a Human Genome Sequence

Rannala, B. H., & REEVE, J. P. (2001) · The American Journal of Human Genetics · doi:10.1086/321279 · Cited by 110

The application of next-generation sequencing in the autozygosity mapping of human recessive diseases

Alkuraya, F. S. (2013) · Human Genetics · doi:10.1007/s00439-013-1344-x · Cited by 114

Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48)

Genı́s, D., Ortega‐Cubero, S., Nicolás, H. S., Corral, J., Gardenyes, J., Jorge, L., López, E., Campos, B., Lorenzo, E., Tonda, R., et al. (2018) · Neurology · doi:10.1212/wnl.0000000000006550 · Cited by 110

Power and sample size calculations in the presence of phenotype errors for case/control genetic association studies

Edwards, B. J., Haynes, C. A., Levenstien, M. A., Finch, S. J., & Gordon, D. (2005) · BMC Genetics · doi:10.1186/1471-2156-6-18 · Cited by 109

Evaluation of Linkage and Association of HPC2/ELAC2 in Patients with Familial or Sporadic Prostate Cancer

Xu, J., Zheng, S. L., Carpten, J. D., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/319513 · Cited by 110

Benchmarking Relatedness Inference Methods with Genome-Wide Data from Thousands of Relatives

Ramstetter, M. D., Dyer, T. D., Lehman, D. M., Curran, J. E., Duggirala, R., Blangero, J., Mezey, J. G., & Williams, A. L. (2017) · Genetics · doi:10.1534/genetics.117.1122 · Cited by 105

Evidence of Association between Smoking and α7 Nicotinic Receptor Subunit Gene in Schizophrenia Patients

Luca, V. D., Wong, A. H. C., Müller, D. J., Wong, G. W. H., Tyndale, R. F., & Kennedy, J. L. (2004) · Neuropsychopharmacology · doi:10.1038/sj.npp.1300466 · Cited by 107

The design, execution, and interpretation of genetic association studies to decipher complex diseases.

Romero, R., Kuivaniemi, H., Tromp, G., & Olson, J. (2002) · American Journal of Obstetrics and Gynecology · doi:10.1067/mob.2002.128319 · Cited by 111

Mapping of a Gene for Severe Pediatric Gastroesophageal Reflux to Chromosome 13q14

Hu, F. Z. (2000) · JAMA · doi:10.1001/jama.284.3.325 · Cited by 107

Exon 6 and 2 Peroxisome Proliferator-Activated Receptor-γ Polymorphisms in Polycystic Ovary Syndrome

Orio, F., Matarese, G., Biase, S. D., Palomba, S., Labella, D., Sanna, V., Savastano, S., Zullo, F., Colao, A., & Lombardi, G. (2003) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2002-021816 · Cited by 106

Association analysis of the catechol‐o‐methyltransferase (COMT ), serotonin transporter (5‐HTT ) and serotonin 2A receptor (5HT2A) gene polymorphisms with obsessive‐compulsive disorder

Meira‐Lima, I., Shavitt, R. G., Miguita, K., Ikenaga, E., Miguel, E. C., & Vallada, H. (2003) · Genes Brain & Behavior · doi:10.1046/j.1601-1848.2003.0042.x · Cited by 106

Pooled Analysis of Loss of Heterozygosity in Breast Cancer: a Genome Scan Provides Comparative Evidence for Multiple Tumor Suppressors and Identifies Novel Candidate Regions

Miller, B. J., Wang, D., Krahe, R., & Wright, F. A. (2003) · The American Journal of Human Genetics · doi:10.1086/378522 · Cited by 106

ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification

Biesecker, L. G., Byrne, A. B., Harrison, S. M., Pesaran, T. F., Schäffer, A. A., Shirts, B. H., Tavtigian, S. V., & Rehm, H. L. (2023) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2023.11.009 · Cited by 107

Linkage analysis in the presence of errors III: marker loci and their map as nuisance parameters.

Göring, H., & Terwilliger, J. (2000) · American Journal of Human Genetics · doi:10.1086/302846 · Cited by 107

A Founding Locus within the RET Proto-Oncogene May Account for a Large Proportion of Apparently Sporadic Hirschsprung Disease and a Subset of Cases of Sporadic Medullary Thyroid Carcinoma

Borrego, S., Wright, F. A., Fernández, R. M., Williams, N., López-Alonso, M., Davuluri, R. V., Antiñolo, G., & Eng, C. (2003) · The American Journal of Human Genetics · doi:10.1086/345466 · Cited by 101

Benign familial neonatal convulsions: Evidence for clinical and genetic heterogeneity

Ryan, S. G., Wiznitzer, M., Hollman, C., Torres, M. C., Szekeresova, M., & Schneider, S. (1991) · Annals of Neurology · doi:10.1002/ana.410290504 · Cited by 98

Evidence for a susceptibility locus on chromosome 6q influencing phonological coding dyslexia

Petryshen, T. L., Kaplan, B. J., Liu, M. F., de French, N. S., Tobias, R., Hughes, M. L., & Field, L. L. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.1475 · Cited by 99

Testing for a Finite Mixture Model with Two Components

Chen, H., Chen, J., & Kalbfleisch, J. D. (2003) · Journal of the Royal Statistical Society Series B (Statistical Methodology) · doi:10.1111/j.1467-9868.2004.00434.x · Cited by 97

AND/OR Branch-and-Bound search for combinatorial optimization in graphical models

Marinescu, R., & Dechter, R. (2009) · Artificial Intelligence · doi:10.1016/j.artint.2009.07.003 · Cited by 97

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