Sasani TA, Pedersen BS, Gao Z, Baird L, Przeworski M, Jorde LB, Quinlan AR. Large, three-generation human families reveal post-zygotic mosaicism and variability in germline mutation accumulation. Elife. 2019 Sep 24;8. pii: e46922. doi: 10.7554/eLife.46922.

Thibord F, Hardy L, Ibrahim-Kosta M, Saut N, Pulcrano-Nicolas AS, Goumidi L, Civelek M, Eriksson P, Deleuze JF, Le Goff W, Trégouët DA, Morange PE. A Genome Wide Association Study on plasma FV levels identified PLXDC2 as a new modifier of the coagulation process. J Thromb Haemost. 2019 Jul 4. doi: 10.1111/jth.14562. [Epub ahead of print]

Yu EY, Wesselius A, van Osch F, Stern MC, Jiang X, Kellen E, Lu CM, Pohlabeln H, Steineck G, Marshall J, Allam MF, La Vecchia C, Johnson KC, Benhamou S, Zhang ZF, Bosetti C, Taylor JA, Zeegers MP. The association between coffee consumption and bladder cancer in the bladder cancer epidemiology and nutritional determinants (BLEND) international pooled study. Cancer Causes Control. 2019 Aug;30(8):859-870. doi: 10.1007/s10552-019-01191-1. Epub 2019 May 30

Adams HH, Hibar DP, Chouraki V, Stein JL, Nyquist PA, Renteria ME, Trompet S, Arias-Vasquez A, Seshadri S, Desrivières S, Beecham AH, Jahanshad N, Wittfeld K, Van der Lee SJ, Abramovic L, Alhusaini S, Amin N, Andersson M, Arfanakis K, Aribisala BS, Armstrong NJ, Athanasiu L, Axelsson T, Beiser A, Bernard M, Bis JC, Blanken LM, Blanton SH, Bohlken MM, Boks MP, Bralten J, Brickman AM, Carmichael O, Chakravarty MM, Chauhan G, Chen Q, Ching CR, Cuellar-Partida G, Braber AD, Doan NT, Ehrlich S, Filippi I, Ge T, Giddaluru S, Goldman AL, Gottesman RF, Greven CU, Grimm O, Griswold ME, Guadalupe T, Hass J, Haukvik UK, Hilal S, Hofer E, Hoehn D, Holmes AJ, Hoogman M, Janowitz D, Jia T, Kasperaviciute D, Kim S, Klein M, Kraemer B, Lee PH, Liao J, Liewald DC, Lopez LM, Luciano M, Macare C, Marquand A, Matarin M, Mather KA, Mattheisen M, Mazoyer B, McKay DR, McWhirter R, Milaneschi Y, Mirza-Schreiber N, Muetzel RL, Maniega SM, Nho K, Nugent AC, Loohuis LM, Oosterlaan J, Papmeyer M, Pappa I, Pirpamer L, Pudas S, Pütz B, Rajan KB, Ramasamy A, Richards JS, Risacher SL, Roiz-Santiañez R, Rommelse N, Rose EJ, Royle NA, Rundek T, Sämann PG, Satizabal CL, Schmaal L, Schork AJ, Shen L, Shin J, Shumskaya E, Smith AV, Sprooten E, Strike LT, Teumer A, Thomson R, Tordesillas-Gutierrez D, Toro R, Trabzuni D, Vaidya D, Van der Grond J, Van der Meer D, Van Donkelaar MM, Van Eijk KR, Van Erp TG, Van Rooij D, Walton E, Westlye LT, Whelan CD, Windham BG, Winkler AM, Woldehawariat G, Wolf C, Wolfers T, Xu B, Yanek LR, Yang J, Zijdenbos A, Zwiers MP, Agartz I, Aggarwal NT, Almasy L, Ames D, Amouyel P, Andreassen OA, Arepalli S, Assareh AA, Barral S, Bastin ME, Becker DM, Becker JT, Bennett DA, Blangero J, van Bokhoven H, Boomsma DI, Brodaty H, Brouwer RM, Brunner HG, Buckner RL, Buitelaar JK, Bulayeva KB, Cahn W, Calhoun VD, Cannon DM, Cavalleri GL, Chen C, Cheng CY, Cichon S, Cookson MR, Corvin A, Crespo-Facorro B, Curran JE, Czisch M, Dale AM, Davies GE, De Geus EJ, De Jager PL, de Zubicaray GI, Delanty N, Depondt C, DeStefano AL, Dillman A, Djurovic S, Donohoe G, Drevets WC, Duggirala R, Dyer TD, Erk S, Espeseth T, Evans DA, Fedko IO, Fernández G, Ferrucci L, Fisher SE, Fleischman DA, Ford I, Foroud TM, Fox PT, Francks C, Fukunaga M, Gibbs JR, Glahn DC, Gollub RL, Göring HH, Grabe HJ, Green RC, Gruber O, Gudnason V, Guelfi S, Hansell NK, Hardy J, Hartman CA, Hashimoto R, Hegenscheid K, Heinz A, Le Hellard S, Hernandez DG, Heslenfeld DJ, Ho BC, Hoekstra PJ, Hoffmann W, Hofman A, Holsboer F, Homuth G, Hosten N, Hottenga JJ, Pol HE, Ikeda M, Ikram MK, Jr CR, Jenkinson M, Johnson R, Jönsson EG, Jukema JW, Kahn RS, Kanai R, Kloszewska I, Knopman DS, Kochunov P, Kwok JB, Lawrie SM, Lemaître H, Liu X, Longo DL, Jr WT, Lopez OL, Lovestone S, Martinez O, Martinot JL, Mattay VS, McDonald C, McIntosh AM, McMahon KL, McMahon FJ, Mecocci P, Melle I, Meyer-Lindenberg A, Mohnke S, Montgomery GW, Morris DW, Mosley TH, Mühleisen TW, Müller-Myhsok B, Nalls MA, Nauck M, Nichols TE, Niessen WJ, Nöthen MM, Nyberg L, Ohi K, Olvera RL, Ophoff RA, Pandolfo M, Paus T, Pausova Z, Penninx BW, Pike GB, Potkin SG, Psaty BM, Reppermund S, Rietschel M, Roffman JL, Romanczuk-Seiferth N, Rotter JI, Ryten M, Sacco RL, Sachdev PS, Saykin AJ, Schmidt R, Schofield PR, Sigurdsson S, Simmons A, Singleton A, Sisodiya SM, Smith C, Smoller JW, Soininen H, Srikanth V, Steen VM, Stott DJ, Sussmann JE, Thalamuthu A, Tiemeier H, Toga AW, Traynor BJ, Troncoso J, Turner JA, Tzourio C, Uitterlinden AG, Hernández MC, Van der Brug M, Van der Lugt A, Van der Wee NJ, Van Duijn CM, Van Haren NE, Van T Ent D, Van Tol MJ, Vardarajan BN, Veltman DJ, Vernooij MW, Völzke H, Walter H, Wardlaw JM, Wassink TH, Weale ME, Weinberger DR, Weiner MW, Wen W, Westman E, White T, Wong TY, Wright CB, Zielke HR, Zonderman AB, Deary IJ, DeCarli C, Schmidt H, Martin NG, De Craen AJ, Wright MJ, Launer LJ, Schumann G, Fornage M, Franke B, Debette S, Medland SE, Ikram MA, Thompson PM. Novel genetic loci underlying human intracranial volume identified through genome-wide association. Nat Neurosci. 2016 Oct 3. doi: 10.1038/nn.4398.

Al-Sadat N, Majid HA, Sim PY, Su TT, Dahlui M, Abu Bakar MF, Dzaki N, Norbaya S, Murray L, Cantwell MM, Jalaludin MY; MyHeART study group. Vitamin D deficiency in Malaysian adolescents aged 13 years: findings from the Malaysian Health and Adolescents Longitudinal Research Team study (MyHeARTs). BMJ Open. 2016 Aug 18;6(8):e010689. doi: 10.1136/bmjopen-2015-010689.

Barrie ES, Hartmann K, Lee SH, Frater JT, Seweryn M, Wang D, Sadee W The CHRNA5/CHRNA3/CHRNB4 Nicotinic Receptor Regulome: Genomic Architecture, Regulatory Variants, and Clinical Associations. Hum Mutat. 2016 Oct 19. doi: 10.1002/humu.23135.

Basu A, Sarkar-Roy N, Majumder PP. Genomic reconstruction of the history of extant populations of India reveals five distinct ancestral components and a complex structure. Proc Natl Acad Sci U S A. 2016 Jan 25. pii: 201513197.

Brenner DR, Brennan P, Boffetta P, Amos CI, Spitz MR, Chen C, Goodman G, Heinrich J, Bickeböller H, Rosenberger A, Risch A, Muley T, McLaughlin JR, Benhamou S, Bouchardy C, Lewinger JP, Witte JS, Chen G, Bull S, Hung RJ Erratum to: Hierarchical modeling identifies novel lung cancer susceptibility variants in inflammation pathways among 10,140 cases and 11,012 controls. Hum Genet. 2016 Aug;135(8):963. No abstract available.

Iotchkova V, Huang J, Morris JA, Jain D, Barbieri C, Walter K, Min JL, Chen L, Astle W, Cocca M, Deelen P, Elding H, Farmaki AE, Franklin CS, Franberg M, Gaunt TR, Hofman A, Jiang T, Kleber ME, Lachance G, Luan J, Malerba G, Matchan A, Mead D, Memari Y, Ntalla I, Panoutsopoulou K, Pazoki R, Perry JR, Rivadeneira F, Sabater-Lleal M, Sennblad B, Shin SY, Southam L, Traglia M, van Dijk F, van Leeuwen EM, Zaza G, Zhang W,Amin N, Butterworth A, Chambers JC, Dedoussis G, Dehghan A, Franco OH, Franke L, Frontini M, Gambaro G, Gasparini P, Hamsten A, Issacs A, Kooner JS, Kooperberg C, Langenberg C, Marz W, Scott RA, Swertz MA, Toniolo D, Uitterlinden AG, van Duijn CM, Watkins H, Zeggini E, Maurano MT, Timpson NJ, Reiner AP, Auer PL, Soranzo N. Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps. Nat Genet. 2016 Sep 26. doi: 10.1038/ng.3668.

Kanai M, Tanaka T, Okada Y Empirical estimation of genome-wide significance thresholds based on the 1000 Genomes Project data set. J Hum Genet. 2016 Oct;61(10):861-866. doi: 10.1038/jhg.2016.72.

Kim YC, Cui J, Luo J, Xiao F, Downs B, Wang SM Exome-based Variant Detection in Core Promoters. Sci Rep. 2016 Jul 28;6:30716. doi: 10.1038/srep30716.

Jensen L, Børsting C, Dalhoff K, Morling N Evaluation of the iPLEX® ADME PGx Pro Panel and allele frequencies of pharmacogenetic markers in Danes. Clin Biochem. 2016 Nov;49(16-17):1299-1301. doi: 10.1016/j.clinbiochem.2016.07.014.

Liu G, Zhang F, Hu Y, Jiang Y, Gong Z, Liu S, Chen X, Jiang Q, Hao J Genetic Variants and Multiple Sclerosis Risk Gene SLC9A9 Expression in Distinct Human Brain Regions. Mol Neurobiol. 2016 Oct 20.

Loh PR, Danecek P, Palamara PF, Fuchsberger C, A Reshef Y, K Finucane H, Schoenherr S, Forer L, McCarthy S, Abecasis GR, Durbin R, L Price A Reference-based phasing using the Haplotype Reference Consortium panel. Nat Genet. 2016 Oct 3. doi: 10.1038/ng.3679.

Moorjani P, Sankararaman S, Fu Q, Przeworski M, Patterson N, Reich D A genetic method for dating ancient genomes provides a direct estimate of human generation interval in the last 45,000 years. Proc Natl Acad Sci U S A. 2016 May 17;113(20):5652-7. doi: 10.1073/pnas.1514696113.

Nagai MH, Armelin-Correa LM, Malnic B Monogenic and Monoallelic Expression of Odorant Receptors. Mol Pharmacol. 2016 Nov;90(5):633-639.

Polley S, Cipriani V, Khan JC, Shahid H, Moore AT, Yates JR, Hollox EJ Analysis of copy number variation at DMBT1 and age-related macular degeneration. BMC Med Genet. 2016 Jul 15;17(1):44. doi: 10.1186/s12881-016-0311-5.

Racimo F, Marnetto D, Huerta-Sánchez E Signatures of archaic adaptive introgression in present-day human populations. Mol Biol Evol. 2016 Oct 18. pii: msw216.

Rume FI, Ahsan CR, Biswas PK, Yasmin M, Braun P, Walter MC, Antwerpen M, Grass G, Hanczaruk M Unexpected genomic relationships between Bacillus anthracis strains from Bangladesh and Central Europe. Infect Genet Evol. 2016 Aug 16;45:66-74. doi: 10.1016/j.meegid.2016.08.017.

Taherzadeh G, Zhou Y, Liew AW, Yang Y Sequence-Based Prediction of Protein-Carbohydrate Binding Sites Using Support Vector Machines. J Chem Inf Model. 2016 Oct 24;56(10):2115-2122.

Tran Q, Gao S, Phan V Analysis of optimal alignments unfolds aligners' bias in existing variant profiles. BMC Bioinformatics. 2016 Oct 6;17(Suppl 13):349.

Xiang Y, Guo J, Peng YF, Lan Y, Huang HT, Wei YS [Distribution of single nucleotide polymorphisms of arginine-vasopressin gene in Guangxi healthy population]. Nan Fang Yi Ke Da Xue Xue Bao. 2016 Jun 20;36(7):927-31. Chinese. .

Wright GE, Carleton B, Hayden MR, Ross CJ The global spectrum of protein-coding pharmacogenomic diversity. Pharmacogenomics J. 2016 Oct 25. doi: 10.1038/tpj.2016.77.

Zhang Z, Zheng Y, Zhang X, Liu C, Joyce BT, Kibbe WA, Hou L, Zhang W. Linking short tandem repeat polymorphisms with cytosine modifications in human lymphoblastoid cell lines. Hum Genet. 2016 Feb;135(2):223-32.

Zheng X, Weir BS. Eigenanalysis of SNP data with an identity by descent interpretation. Theor Popul Biol. 2016 Feb;107:65-76.

Ammar R, Paton TA, Torti D, Shlien A, Bader GD. Long read nanopore sequencing for detection of HLA and CYP2D6 variants and haplotypes. F1000Res. 2015 Jan 21;4:17.

Bilgin Sonay T, Carvalho T, Robinson MD, Greminger MP, Krützen M, Comas D, Highnam G, Mittelman D, Sharp A, Marques-Bonet T, Wagner A. Tandem repeat variation in human and great ape populations and its impact on gene expression divergence. Genome Res. 2015 Nov;25(11):1591-9.

Emery LS, Magnaye KM, Bigham AW, Akey JM, Bamshad MJ. Estimates of continental ancestry vary widely among individuals with the same mtDNA haplogroup. Am J Hum Genet. 2015 Feb 5;96(2):183-93.

Fan BJ, Pasquale LR, Kang JH, Levkovitch-Verbin H, Haines JL, Wiggs JL. Association of clusterin (CLU) variants and exfoliation syndrome: An analysis in two Caucasian studies and a meta-analysis. Exp Eye Res. 2015 Oct;139:115-22.

Gahan JM, Byrne MM, Hill M, Quinn EM, Murphy RT, Anney RJ, Ryan AW. Detecting Allelic Expression Imbalance at Candidate Genes Using 5' Exonuclease Genotyping Technology. Methods Mol Biol. 2015;1326:93-103.

Gazal S, Sahbatou M, Babron MC, Génin E, Leutenegger AL. High level of inbreeding in final phase of 1000 Genomes Project. Sci Rep. 2015 Dec 2;5:17453.

Jin TB, Xun XJ, Shi XG, Yuan DY, Feng T, Geng TT, Kang LL. Genetic polymorphisms in very important pharmacogenomic (VIP) variants in the Tibetan population. Genet Mol Res. 2015 Oct 16;14(4):12497-504.

Macfarlane CM, Badge RM. Genome-wide amplification of proviral sequences reveals new polymorphic HERV-K(HML-2) proviruses in humans and chimpanzees that are absent from genome assemblies. Retrovirology. 2015 Apr 28;12:35.

Mimori T, Nariai N, Kojima K, Sato Y, Kawai Y, Yamaguchi-Kabata Y, Nagasaki M. Estimating copy numbers of alleles from population-scale high-throughput sequencing data. BMC Bioinformatics. 2015;16 Suppl 1:S4.

Mozhui K, Smith AK, Tylavsky FA. Ancestry dependent DNA methylation and influence of maternal nutrition. PLoS One. 2015 Mar 5;10(3):

Pagani L, Schiffels S, Gurdasani D, Danecek P, Scally A, Chen Y, Xue Y, Haber M, Ekong R, Oljira T, Mekonnen E, Luiselli D, Bradman N, Bekele E, Zalloua P, Durbin R, Kivisild T, Tyler-Smith C. Tracing the route of modern humans out of Africa by using 225 human genome sequences from Ethiopians and Egyptians. Am J Hum Genet. 2015 Jun 4;96(6):986-91.

Tian C, Chen Z, Ma X, Yang M, Wang Z, Dong Y, Yang T, Yang W. Comparison of Genetic Variants in Cancer-Related Genes between Chinese Hui and Han Populations. PLoS One. 2015 Dec 18;10(12):e0145170

Wei YL, Wei L, Zhao L, Sun QF, Jiang L, Zhang T, Liu HB, Chen JG, Ye J, Hu L, Li CX. A single-tube 27-plex SNP assay for estimating individual ancestry and admixture from three continents. Int J Legal Med. 2015 Apr 2.

Wenz C, Barbas C, López-Gonzálvez Á, Garcia A, Benavente F, Sanz-Nebot V, Blanc T, Freckleton G, Britz-McKibbin P, Shanmuganathan M, de l'Escaille F, Far J, Haselberg R, Huang S, Huhn C, Pattky M, Michels D, Mou S, Yang F, Neusuess C, Tromsdorf N, Baidoo EE, Keasling JD, Park SS. Interlaboratory study to evaluate the robustness of capillary electrophoresis-mass spectrometry for peptide mapping. J Sep Sci. 2015 Jul 6.

Yuan Y, Tian L, Lu D, Xu S. Analysis of Genome-Wide RNA-Sequencing Data Suggests Age of the CEPH/Utah (CEU) Lymphoblastoid Cell Lines Systematically Biases Gene Expression Profiles. Sci Rep. 2015 Jan 22;5:7960.

Zheng HF, Rong JJ, Liu M, Han F, Zhang XW, Richards JB, Wang L. Performance of genotype imputation for low frequency and rare variants from the 1000 genomes. PLoS One. 2015 Jan 26;10(1):e0116487.

ClearyJG, Braithwaite R, Gaastra K, Hilbush BS, Inglis S, Irvine SA, Jackson A, Littin R, Nohzadeh-Malakshah S, Rathod M, Ware D, Trigg L, De La Vega FM. Joint variant and de novo mutation identification on pedigrees from high-throughput sequencing data. J Comput Biol. 2014 Jun;21(6):405-19.

DarlingtonTM, Pimentel R, Smith K, Bakian AV, Jerominski L, Cardon J, Camp NJ, Callor WB, Grey T, Singleton M, Yandell M, Renshaw PF, Yurgelun-Todd DA, Gray D, Coon H. Identifying rare variants for genetic risk through a combined pedigree and phenotype approach: application to suicide and asthma. Transl Psychiatry. 2014 Oct 21;4:e471.

HaaslRJ, Johnson RC, Payseur BA. The effects of microsatellite selection on linked sequence diversity. Genome Biol Evol. 2014 Jul;6(7):1843-61.

HarianiGD, Lam EJ, Havener T, Kwok PY, McLeod HL, Wagner MJ, Motsinger-Reif AA. Application of next generation sequencing to CEPH cell lines to discover variants associated with FDA approved chemotherapeutics. BMC Res Notes. 2014 Jun 12;7:360.

Hoggart CJ, Venturini G, Mangino M, Gomez F, Ascari G, et al. (2014) Novel Approach Identifies SNPs in SLC2A10 and KCNK9 with Evidence for Parent-of-Origin Effect on Body Mass Index. PLOS Genetics 10(7): e1004508. https://doi.org/10.1371/journal.pgen.1004508

OkadaY, Diogo D, Greenberg JD, Mouassess F, Achkar WA, Fulton RS, Denny JC, Gupta N, Mirel D, Gabriel S, Li G, Kremer JM, Pappas DA, Carroll RJ, Eyler AE, Trynka G, Stahl EA, Cui J, Saxena R, Coenen MJ, Guchelaar HJ, Huizinga TW, Dieudé P, Mariette X, Barton A, Canhão H, Fonseca JE, de Vries N, Tak PP, Moreland LW, Bridges SL Jr, Miceli-Richard C, Choi HK, Kamatani Y, Galan P, Lathrop M, Raj T, De Jager PL, Raychaudhuri S, Worthington J, Padyukov L, Klareskog L, Siminovitch KA, Gregersen PK, Mardis ER, Arayssi T, Kazkaz LA, Plenge RM. Integration of sequence data from a Consanguineous family with genetic data from an outbred population identifies PLB1 as a candidate rheumatoid arthritis risk gene. PLoS One. 2014 Feb 10;9(2):e87645.

Pikkuhookana P, Sillanpäauml; MJ. Combined linkage disequilibrium and linkage mapping: Bayesian multilocus approach. Heredity (Edinb). 2014 Mar;112(3):351-60.

QuigleyDA, Fiorito E, Nord S, Van Loo P, Alnæs GG, Fleischer T, Tost J, Moen Vollan HK, Tramm T, Overgaard J, Bukholm IR, Hurtado A, Balmain A, Børresen-Dale AL, Kristensen V. The 5p12 breast cancer susceptibility locus affects MRPS30 expression in estrogen-receptor positive tumors. Mol Oncol. 2014 Mar;8(2):273-84.

ShiJ, Yang XR, Ballew B, Rotunno M, Calista D, Fargnoli MC, Ghiorzo P, Bressac-de Paillerets B, Nagore E, Avril MF, Caporaso NE, McMaster ML, Cullen M, Wang Z, Zhang X; NCI DCEG Cancer Sequencing Working Group; NCI DCEG Cancer Genomics Research Laboratory; French Familial Melanoma Study Group, Bruno W, Pastorino L, Queirolo P, Banuls-Roca J, Garcia-Casado Z, Vaysse A, Mohamdi H, Riazalhosseini Y, Foglio M, Jouenne F, Hua X, Hyland PL, Yin J, Vallabhaneni H, Chai W, Minghetti P, Pellegrini C, Ravichandran S, Eggermont A, Lathrop M, Peris K, Scarra GB, Landi G, Savage SA, Sampson JN, He J, Yeager M, Goldin LR, Demenais F, Chanock SJ, Tucker MA, Goldstein AM, Liu Y, Landi MT. Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma. Nat Genet. 2014 May;46(5):482-6.

Wang Y, McKay JD, Rafnar T, Wang Z, Timofeeva MN, Broderick P, Zong X, Laplana M, Wei Y, Han Y, Lloyd A, Delahaye-Sourdeix M, Chubb D, Gaborieau V, Wheeler W, Chatterjee N, Thorleifsson G, Sulem P, Liu G, Kaaks R, Henrion M, Kinnersley B, Vallée M, LeCalvez-Kelm F, Stevens VL, Gapstur SM, Chen WV, Zaridze D, Szeszenia-Dabrowska N, Lissowska J, Rudnai P, Fabianova E, Mates D, Bencko V, Foretova L, Janout V, Krokan HE, Gabrielsen ME, Skorpen F, Vatten L, Njølstad I, Chen C, Goodman G, Benhamou S, Vooder T, Välk K, Nelis M, Metspalu A, Lener M, Lubiński J, Johansson M, Vineis P, Agudo A, Clavel-Chapelon F, Bueno-de-Mesquita HB, Trichopoulos D, Khaw KT, Johansson M, Weiderpass E, Tjønneland A, Riboli E, Lathrop M, Scelo G, Albanes D, Caporaso NE, Ye Y, Gu J, Wu X, Spitz MR, Dienemann H, Rosenberger A, Su L, Matakidou A, Eisen T, Stefansson K, Risch A, Chanock SJ, Christiani DC, Hung RJ, Brennan P, Landi MT, Houlston RS, Amos CI. Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer. Nat Genet. 2014 Jul;46(7):736-41. doi: 10.1038/ng.3002. Epub 2014 Jun 1. Erratum in: Nat Genet. 2017 Mar 30;49(4):651. PMID: 24880342; PMCID: PMC4074058.

Wang Z, Zhu B, Zhang M, Parikh H, Jia J, Chung CC, Sampson JN, Hoskins JW, Hutchinson A, Burdette L, Ibrahim A, Hautman C, Raj PS, Abnet CC, Adjei AA, Ahlbom A, Albanes D, Allen NE, Ambrosone CB, Aldrich M, Amiano P, Amos C, Andersson U, Andriole G Jr, Andrulis IL, Arici C, Arslan AA, Austin MA, Baris D, Barkauskas DA, Bassig BA, Beane Freeman LE, Berg CD, Berndt SI, Bertazzi PA, Biritwum RB, Black A, Blot W, Boeing H, Boffetta P, Bolton K, Boutron-Ruault MC, Bracci PM, Brennan P, Brinton LA, Brotzman M, Bueno-de-Mesquita HB, Buring JE, Butler MA, Cai Q, Cancel-Tassin G, Canzian F, Cao G, Caporaso NE, Carrato A, Carreon T, Carta A, Chang GC, Chang IS, Chang-Claude J, Che X, Chen CJ, Chen CY, Chen CH, Chen C, Chen KY, Chen YM, Chokkalingam AP, Chu LW, Clavel-Chapelon F, Colditz GA, Colt JS, Conti D, Cook MB, Cortessis VK, Crawford ED, Cussenot O, Davis FG, De Vivo I, Deng X, Ding T, Dinney CP, Di Stefano AL, Diver WR, Duell EJ, Elena JW, Fan JH, Feigelson HS, Feychting M, Figueroa JD, Flanagan AM, Fraumeni JF Jr, Freedman ND, Fridley BL, Fuchs CS, Gago-Dominguez M, Gallinger S, Gao YT, Gapstur SM, Garcia-Closas M, Garcia-Closas R, Gastier-Foster JM, Gaziano JM, Gerhard DS, Giffen CA, Giles GG, Gillanders EM, Giovannucci EL, Goggins M, Gokgoz N, Goldstein AM, Gonzalez C, Gorlick R, Greene MH, Gross M, Grossman HB, Grubb R 3rd, Gu J, Guan P, Haiman CA, Hallmans G, Hankinson SE, Harris CC, Hartge P, Hattinger C, Hayes RB, He Q, Helman L, Henderson BE, Henriksson R, Hoffman-Bolton J, Hohensee C, Holly EA, Hong YC, Hoover RN, Hosgood HD 3rd, Hsiao CF, Hsing AW, Hsiung CA, Hu N, Hu W, Hu Z, Huang MS, Hunter DJ, Inskip PD, Ito H, Jacobs EJ, Jacobs KB, Jenab M, Ji BT, Johansen C, Johansson M, Johnson A, Kaaks R, Kamat AM, Kamineni A, Karagas M, Khanna C, Khaw KT, Kim C, Kim IS, Kim JH, Kim YH, Kim YC, Kim YT, Kang CH, Jung YJ, Kitahara CM, Klein AP, Klein R, Kogevinas M, Koh WP, Kohno T, Kolonel LN, Kooperberg C, Kratz CP, Krogh V, Kunitoh H, Kurtz RC, Kurucu N, Lan Q, Lathrop M, Lau CC, Lecanda F, Lee KM, Lee MP, Le Marchand L, Lerner SP, Li D, Liao LM, Lim WY, Lin D, Lin J, Lindstrom S, Linet MS, Lissowska J, Liu J, Ljungberg B, Lloreta J, Lu D, Ma J, Malats N, Mannisto S, Marina N, Mastrangelo G, Matsuo K, McGlynn KA, McKean-Cowdin R, McNeill LH, McWilliams RR, Melin BS, Meltzer PS, Mensah JE, Miao X, Michaud DS, Mondul AM, Moore LE, Muir K, Niwa S, Olson SH, Orr N, Panico S, Park JY, Patel AV, Patino-Garcia A, Pavanello S, Peeters PH, Peplonska B, Peters U, Petersen GM, Picci P, Pike MC, Porru S, Prescott J, Pu X, Purdue MP, Qiao YL, Rajaraman P, Riboli E, Risch HA, Rodabough RJ, Rothman N, Ruder AM, Ryu JS, Sanson M, Schned A, Schumacher FR, Schwartz AG, Schwartz KL, Schwenn M, Scotlandi K, Seow A, Serra C, Serra M, Sesso HD, Severi G, Shen H, Shen M, Shete S, Shiraishi K, Shu XO, Siddiq A, Sierrasesumaga L, Sierri S, Loon Sihoe AD, Silverman DT, Simon M, Southey MC, Spector L, Spitz M, Stampfer M, Stattin P, Stern MC, Stevens VL, Stolzenberg-Solomon RZ, Stram DO, Strom SS, Su WC, Sund M, Sung SW, Swerdlow A, Tan W, Tanaka H, Tang W, Tang ZZ, Tardon A, Tay E, Taylor PR, Tettey Y, Thomas DM, Tirabosco R, Tjonneland A, Tobias GS, Toro JR, Travis RC, Trichopoulos D, Troisi R, Truelove A, Tsai YH, Tucker MA, Tumino R, Van Den Berg D, Van Den Eeden SK, Vermeulen R, Vineis P, Visvanathan K, Vogel U, Wang C, Wang C, Wang J, Wang SS, Weiderpass E, Weinstein SJ, Wentzensen N, Wheeler W, White E, Wiencke JK, Wolk A, Wolpin BM, Wong MP, Wrensch M, Wu C, Wu T, Wu X, Wu YL, Wunder JS, Xiang YB, Xu J, Yang HP, Yang PC, Yatabe Y, Ye Y, Yeboah ED, Yin Z, Ying C, Yu CJ, Yu K, Yuan JM, Zanetti KA, Zeleniuch-Jacquotte A, Zheng W, Zhou B, Mirabello L, Savage SA, Kraft P, Chanock SJ, Yeager M, Landi MT, Shi J, Chatterjee N, Amundadottir LT. Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33. Hum Mol Genet. 2014 Dec 15;23(24):6616-33. doi: 10.1093/hmg/ddu363. Epub 2014 Jul 15. PMID: 25027329; PMCID: PMC4240198.

Yang S, Liu Y, Jiang N, Chen J, Leach L, Luo Z, Wang M Genome-wide eQTLs and heritability for gene expression traits in unrelated individuals BMC Genomics 2014 Jan 9;15(1):13

Bleazard T, Ju YS, Sung J, Seo JS Fine-scale mapping of meiotic recombination in Asians BMC Genet 2013 Mar 8;14:19 doi: 10.1186/1471-2156-14-19.

Di Gaetano C, Matullo G, Piazza A, Ursino M, Gasparini M A proximity-based method to identify genomic regions correlated with a continuously varying environmental variable Evol Bioinform Online 2013;9:29-42 doi: 10.4137/EBO.S10211 Epub 2013 Jan 29.

Fondevila M, Phillips C, Santos C, Freire Aradas A, Vallone PM, Butler JM, Lareu MV, Carracedo A Revision of the SNPforID 34-plex forensic ancestry test: Assay enhancements, standard reference sample genotypes and extended population studies Forensic Sci Int Genet 2013 Jan;7(1):63-74

Lappalainen T, Sammeth M, Friedländer MR, 't Hoen PA, Monlong J, Rivas MA, Gonzàlez-Porta M, Kurbatova N, Griebel T, Ferreira PG, Barann M, Wieland T, Greger L, van Iterson M, Almlöf J, Ribeca P, Pulyakhina I, Esser D, Giger T, Tikhonov A, Sultan M, Bertier G, MacArthur DG, Lek M, Lizano E, Buermans HP, Padioleau I, Schwarzmayr T, Karlberg O, Ongen H, Kilpinen H, Beltran S, Gut M, Kahlem K, Amstislavskiy V, Stegle O, Pirinen M, Montgomery SB, Donnelly P, McCarthy MI, Flicek P, Strom TM; Geuvadis Consortium, Lehrach H, Schreiber S, Sudbrak R, Carracedo A, Antonarakis SE, Häsler R, Syvänen AC, van Ommen GJ, Brazma A, Meitinger T, Rosenstiel P, Guigó R, Gut IG, Estivill X, Dermitzakis ET; Geuvadis Consortium Transcriptome and genome sequencing uncovers functional variation in humans Nature 2013 Sep 26;501(7468):506-11 doi: 10.1038/nature12531 Epub 2013 Sep 15.

Li H, Teo YY, Tan EK Patterns of Linkage Disequilibrium of LRRK2 across Different Races: Implications for Genetic Association Studies PLoS One 2013 Sep 5;8(9):e75041

Namjou B, Keddache M, Marsolo K, Wagner M, Lingren T, Cobb B, Perry C, Kennebeck S, Holm IA, Li R, Crimmins NA, Martin L, Solti I, Kohane IS, Harley JB EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children Front Genet 2013 Dec 3;4:268

Paré-Brunet L, Glubb D, Evans P, Berenguer-Llergo A, Etheridge AS, Skol AD, Di Rienzo A, Duan S, Gamazon ER, Innocenti F Discovery and Functional Assessment of Gene Variants in the Vascular Endothelial Growth Factor Pathway Hum Mutat 2013 Nov 4 doi: 10.1002/humu.22475.

Peng MS, He JD, Fan L, Liu J, Adeola AC, Wu SF, Murphy RW, Yao YG, Zhang YP Retrieving Y chromosomal haplogroup trees using GWAS data Eur J Hum Genet 2013 Nov 27 doi: 10.1038/ejhg.2013.272.

Phillips C, Fernandez-Formoso L, Gelabert-Besada M, Garcia-Magariños M, Santos C, Fondevila M, Carracedo A, Lareu MV Development of a novel forensic STR multiplex for ancestry analysis and extended identity testing Electrophoresis 2013 Feb 12 doi: 10.1002/elps.201200621

Pybus M, Dall'olio GM, Luisi P, Uzkudun M, Carreño-Torres A, Pavlidis P, Laayouni H, Bertranpetit J, Engelken J 1000 Genomes Selection Browser 1.0: a genome browser dedicated to signatures of natural selection in modern humans Nucleic Acids Res 2013 Nov 25.

Schlebusch CM, Sjödin P, Skoglund P, Jakobsson M Stronger signal of recent selection for lactase persistence in Maasai than in Europeans Eur J Hum Genet 2013 May;21(5):550-3 doi: 10.1038/ejhg.2012.199 Epub 2012 Sep 5.

Attar H, Bedard K, Migliavacca E, Gagnebin M, Dupré Y, Descombes P, Borel C, Deutsch S, Prokisch H, Meitinger T, Mehta D, Wichmann E, Delabar JM, Dermitzakis ET, Krause KH, Antonarakis SE Extensive natural variation for cellular hydrogen peroxide release is genetically controlled PLoS One 2012;7(8):e43566 doi: 10.1371/journal.pone.0043566 Epub 2012 Aug 29.

Cáceres A, Sindi SS, Raphael BJ, Cáceres M, González JR Identification of polymorphic inversions from genotypes BMC Bioinformatics 2012 Feb 9;13:28 doi: 10.1186/1471-2105-13-28.

García-Redondo A, Dols-Icardo O, Rojas-García R, Esteban-Pérez J, Cordero-Vázquez P, Muñoz-Blanco JL, Catalina I, González-Muñoz M, Varona L, Sarasola E, Povedano M, Sevilla T, Guerrero A, Pardo J, de Munain AL, Márquez-Infante C, de Rivera FJ, Pastor P, Jericó I, de Arcaya AÁ, Mora JS, Clarimón J; C9ORF72 Spanish Study Group, Gonzalo-Martínez JF, Juárez-Rufián A, Atencia G, Jiménez-Bautista R, Morán Y, Mascías J, Hernández-Barral M, Kapetanovic S, García-Barcina M, Alcalá C, Vela A, Ramírez-Ramos C, Galán L, Pérez-Tur J, Quintáns B, Sobrido MJ, Fernández-Torrón R, Poza JJ, Gorostidi A, Paradas C, Villoslada P, Larrodé P, Capablo JL, Pascual-Calvet J, Goñi M, Morgado Y, Guitart M, Moreno-Laguna S, Rueda A, Martín-Estefanía C, Cemillán C, Blesa R, Lleó A Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide Hum Mutat 2013 Jan;34(1):79-82 doi: 10.1002/humu.22211 Epub 2012 Oct 11.

Geeleher P, Huang SR, Gamazon ER, Golden A, Seoighe C The regulatory effect of miRNAs is a heritable genetic trait in humans BMC Genomics 2012 Aug 10;13:383 doi: 10.1186/1471-2164-13-383.

Lee RD, Song MY, Lee JK Large-scale profiling and identification of potential regulatory mechanisms for allelic gene expression in colorectal cancer cells Gene 2013 Jan 1;512(1):16-22 doi: 10.1016/j.gene.2012.10.001 Epub 2012 Oct 10.

Lu JT, Wang Y, Gibbs RA, Yu F Characterizing linkage disequilibrium and evaluating imputation power of human genomic insertion-deletion polymorphisms Genome Biol 2012 Feb 29;13(2):R15 doi: 10.1186/gb-2012-13-2-r15.

Pimenoff VN, Laval G, Comas D, Palo JU, Gut I, Cann H, Excoffier L, Sajantila A Similarity in recombination rate and linkage disequilibrium at CYP2C and CYP2D cytochrome P450 gene regions among Europeans indicates signs of selection and no advantage of using tagSNPs in population isolates Pharmacogenet Genomics 2012 Dec;22(12):846-57 doi: 10.1097/FPC.0b013e32835a3a6d.

Setsirichok D, Piroonratana T, Assawamakin A, Usavanarong T, Limwongse C, Wongseree W, Aporntewan C, Chaiyaratana N Small Ancestry Informative Marker panels for complete classification between the original four HapMap populations Int J Data Min Bioinform 2012;6(6):651-74.

Stathias V, Sotiris GR, Karagiannidis I, Bourikas G, Martinis G, Papazoglou D, Tavridou A, Papanas N, Maltezos E, Theodoridis M, Vargemezis V, Manolopoulos VG, Speed WC, Kidd JR, Kidd KK, Drineas P, Paschou P Exploring genomic structure differences and similarities between the Greek and European HapMap populations: implications for association studies Ann Hum Genet 2012 Nov;76(6):472-83 doi: 10.1111/j.1469-1809.2012.00730.x.

Stevens EL, Heckenberg G, Baugher JD, Roberson ED, Downey TJ, Pevsner J Consanguinity in Centre d'Étude du Polymorphisme Humain (CEPH) pedigrees Eur J Hum Genet 2012 Jun;20(6):657-67 doi: 10.1038/ejhg.2011.266 Epub 2012 Jan 25.

Westen AA, Haned H, Grol LJ, Harteveld J, van der Gaag KJ, de Knijff P, Sijen T Combining results of forensic STR kits: HDplex validation including allelic association and linkage testing with NGM and Identifiler loci Int J Legal Med 2012 Sep;126(5):781-9.

Abyzov A, Urban AE, Snyder M, Gerstein M CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing Genome Res 2011 Jun;21(6):974-84 Epub 2011 Feb 7.

Carr IM, Diggle CP, Touqan N, Anwar R, Sheridan EG, Bonthron DT, Johnson CA, Ali M, Markham AF Identification of autosomal recessive disease loci using out-bred nuclear families Hum Mutat 2011 Nov 3

Humphreys K, Grankvist A, Leu M, Hall P, Liu J, Ripatti S, Rehnström K, Groop L, Klareskog L, Ding B, Grönberg H, Xu J, Pedersen NL, Lichtenstein P, Mattingsdal M, Andreassen OA, O'Dushlaine C, Purcell SM, Sklar P, Sullivan PF, Hultman CM, Palmgren J, Magnusson PK The genetic structure of the Swedish population PLoS One 2011;6(8):e22547 doi: 10.1371/journal.pone.0022547 Epub 2011 Aug 4.

Sawitzke J, Im KM, Kostiha B, Dean M, Gold B Association assessment of copy number polymorphism and risk of age-related macular degeneration Ophthalmology 2011 Dec;118(12):2442-6.

Song MY, Kim HE, Kim S, Choi IH, Lee JK SNP-based large-scale identification of allele-specific gene expression in human B cells Gene 2011 Dec 8

Watson VG, Hardison NE, Harris T, Motsinger-Reif A, McLeod HL Genomic profiling in CEPH cell lines distinguishes between the camptothecins and indenoisoquinolines Mol Cancer Ther 2011 Oct;10(10):1839-45 doi: 10.1158/1535-7163.MCT-10-0872 Epub 2011 Jul 12.

Watson VG, Hardison NE, Harris T, Motsinger-Reif A, McLeod HL Genomic profiling in CEPH cell lines distinguishes between the camptothecins and indenoisoquinolines Mol Cancer Ther 2011 Oct;10(10):1839-45 Epub 2011 Jul 12.

Brunson T, Wang Q, Chambers I, Song Q A copy number variation in human NCF1 and its pseudogenes BMC Genet 2010 Feb 23;11:13.

Feller G, Kugel S, Moonshine D, Chalifa-Caspi V, Scholz M, Prüfer D, Rabinski T, Müller KJ, Ofir R African Descents Are More Sensitive Than European Descents to the Antitumor Compounds alpha-Hederin and Kalopanaxsaponin I Planta Med 2010 Jun 24

Khil PP, Camerini-Otero RD.Genetic crossovers are predicted accurately by the computed human recombination map PLoS Genet 2010 Jan 29;6(1):e1000831.

Meyer MS, Penney KL, Stark JR, Schumacher F, Sesso H, Loda M, Fiorentino M, Finn S, Flavin R, Kurth T, Price A, Giovannucci E, Fall K, Stampfer MJ, Ma J, Mucci LA Genetic variation in RNASEL associated with Prostate Cancer Risk and Progression Carcinogenesis 2010 Jun 24

Paschou P, Kukuvitis A, Yavropoulou MP, Dritsoula A, Giapoutzidis V, Anastasiou O, Kazakos K, Yovos JG Genetic variation in the visfatin (PBEF1/NAMPT) gene and type 2 diabetes in the Greek population Cytokine 2010 Jul;51(1):25-7

Saferali A, Grundberg E, Berlivet S, Beauchemin H, Morcos L, Polychronakos C, Pastinen T, Graham J, McNeney B, Naumova AK Cell culture-induced aberrant methylation of the imprinted IG DMR in human lymphoblastoid cell lines Epigenetics 2010 Jan;5(1):50-60.

Pikkuhookana P, Sillanpää MJ Correcting for relatedness in Bayesian models for genomic data association analysis Heredity 2009 Sep;103(3):223-37 Epub 2009 May 20

Martin MP, Single RM, Wilson MJ, Trowsdale J, Carrington M KIR haplotypes defined by segregation analysis in 59 Centre d'Etude Polymorphisme Humain (CEPH) families Immunogenetics 2008 Dec;60(12):767-74 Epub 2008 Oct 30 Erratum in: Immunogenetics 2009 Jan;61(1):79

Meenagh A, Gonzalez A, Sleator C, McQuaid S, Middleton D Investigation of killer cell immunoglobulin-like receptor gene diversity, KIR2DL1 and KIR2DS1 Tissue Antigens 2008 Oct;72(4):383-91 Epub 2008 Jul 15

Rio Frio T, Civic N, Ransijn A, Beckmann JS, Rivolta C Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations Hum Mol Genet 2008 Oct 15;17(20):3154-65 Epub 2008 Jul 18

Cervino AC, Tsinoremas NF, Hoffman RW A genome-wide study of lupus:preliminary analysis and data release Ann N Y Acad Sci 2007 Sep;1110:131-9.

Cheung VG, Spielman RS Data for Genetic Analysis Workshop (GAW) 15, Problem 1: genetics of gene expression variation in humans BMC Proc 2007;1 Suppl 1:S2 Epub 2007 Dec 18

Falk CT, Finch SJ, Kim W, Mukhopadhyay ND, Gong B, Hinrichs A, Li X, Liu X, Malhotra A, Mehta T, Page G, Rao S, Saccone N, Shete S, Yang Y, Yu R, Zhao JH, Zhou X Data mining of RNA expression and DNA genotype data: presentation group 5 contributions to Genetic Analysis Workshop 15 Genet Epidemiol 2007;31 Suppl 1:S43-50

McRae AF, Matigian NA, Vadlamudi L, Mulley JC, Mowry B, Martin NG, Berkovic SF, Hayward NK, Visscher PM Replicated effects of sex and genotype on gene expression in human lymphoblastoid cell lines Hum Mol Genet 2007 Feb 15;16(4):364-73 Epub 2006 Dec 12

Phillips C, Fang R, Ballard D, Fondevila M, Harrison C, Hyland F, Musgrave-Brown E, Proff C, Ramos-Luis E, Sobrino B, Carracedo A, Furtado MR, Syndercombe Court D, Schneider PM; SNPforID Consortium Evaluation of the Genplex SNP typing system and a 49plex forensic marker panel Forensic Sci Int Genet 2007 Jun;1(2):180-5 Epub 2007 Mar 23

Reed P, Cucca F, Jenkins S, Merriman M, Wilson A, McKinney P, Bosi E, Joner G, Rønningen KS, Thorsby E, Undlien D, Merriman T, Barnett A, Bain S, Todd J Evidence for a type 1 diabetes susceptibility locus (IDDM10) on human chromosome 10p11-q11 Hum Mol Genet 1997 Jul;6(7):1011-6 Erratum in: Hum Mol Genet 2007 Dec 15;16(24):3198 Rønningen, K [corrected to Rønningen, K S]

Rousseau K, Byrne C, Griesinger G, Leung A, Chung A, Hill AS, Swallow DM.Allelic association and recombination hotspots in the mucin gene (MUC) complex on chromosome 11p15.5 Ann Hum Genet 2007 Sep;71(Pt 5):561-9 Epub 2007 May 29.

Pereira RW, Pena SD Phylogeography of haplotypes of five microsatellites located in a low-recombination region of the X chromosome: studies worldwide and in Brazilian populations Genetica 2006 Jan;126(1-2):243-50

Deutsch S, Lyle R, Dermitzakis ET, Attar H, Subrahmanyan L, Gehrig C, Parand L, Gagnebin M, Rougemont J, Jongeneel CV, Antonarakis SE Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes Hum Mol Genet 2005 Dec 1;14(23):3741-9 Epub 2005 Oct 26 PubMed PMID: 16251198.

Gourraud PA, Lamiraux P, El-Kadhi N, Raffoux C, Cambon-Thomsen A Inferred HLA haplotype information for donors from hematopoietic stem cells donor registries Hum Immunol 2005 May;66(5):563-70 Epub 2005 Mar 3

Malhotra A, Cromer K, Leppert MF, Hasstedt SJ The power to detect genetic linkage for quantitative traits in the Utah CEPH pedigrees J Hum Genet 2005;50(2):69-75 Epub 2005 Jan 29

Clark VJ, Dean M Characterisation of SNP haplotype structure in chemokine and chemokine receptor genes using CEPH pedigrees and statistical estimation Hum Genomics 2004 Mar;1(3):195-207

Halfpenny IA, Middleton D, Barnett YA, Williams F Investigation of killer cell immunoglobulin-like receptor gene diversity: IV KIR3DL1/S1 Hum Immunol 2004 Jun;65(6):602-12

Keaney L, Williams F, Meenagh A, Sleator C, Middleton D Investigation of killer cell immunoglobulin-like receptor gene diversity III KIR2DL3 Tissue Antigens 2004 Aug;64(2):188-94

Meenagh A, Williams F, Sleator C, Halfpenny IA, Middleton D Investigation of killer cell immunoglobulin-like receptor gene diversity V KIR3DL2 Tissue Antigens 2004 Sep;64(3):226-34

Monks SA, Leonardson A, Zhu H, Cundiff P, Pietrusiak P, Edwards S, Phillips JW, Sachs A, Schadt EE Genetic inheritance of gene expression in human cell lines Am J Hum Genet 2004 Dec;75(6):1094-105 Epub 2004 Oct 21

Sivagnanasundaram S, Broman KW, Liu M, Petronis A Quasi-linkage: a confounding factor in linkage analysis of complex diseases? Hum Genet 2004 May;114(6):588-93 Epub 2004 Mar 26

Williams F, Meenagh A, Sleator C, Middleton D Investigation of killer cell immunoglobulinlike receptor gene diversity: I KIR2DL4 Hum Immunol 2004 Jan;65(1):31-8

Chiba-Falek O, Touchman JW, Nussbaum RL Functional analysis of intra-allelic variation at NACP-Rep1 in the alpha-synuclein gene Hum Genet 2003 Oct;113(5):426-31 Epub 2003 Aug 16

Drayna D, Coon H, Kim UK, Elsner T, Cromer K, Otterud B, Baird L, Peiffer AP, Leppert M; Utah Genetic Reference Project Genetic analysis of a complex trait in the Utah Genetic Reference Project: a major locus for PTC taste ability on chromosome 7q and a secondary locus on chromosome 16p Hum Genet 2003 May;112(5-6):567-72 Epub 2003 Mar 6

Kraft P, Schadt E, Aten J, Horvath S A family-based test for correlation between gene expression and trait values Am J Hum Genet 2003 May;72(5):1323-30 Epub 2003 Apr 8

Berloff N, Perola M, Lange K Spline methods for the comparison of physical and genetic maps J Comput Biol 2002;9(3):465-75

Hall MA, Norman PJ, Thiel B, Tiwari H, Peiffer A, Vaughan RW, Prescott S, Leppert M, Schork NJ, Lanchbury JS Quantitative trait loci on chromosomes 1, 2, 3, 4, 8, 9, 11, 12, and 18 control variation in levels of T and B lymphocyte subpopulations Am J Hum Genet 2002 May;70(5):1172-82 Epub 2002 Apr 9 Erratum in: Am J Hum Genet 2002 Sep;71(3):693

Clark VJ, Metheny N, Dean M, Peterson RJ Statistical estimation and pedigree analysis of CCR2-CCR5 haplotypes Hum Genet 2001 Jun;108(6):484-93

Mead S, Mahal SP, Beck J, Campbell T, Farrall M, Fisher E, Collinge J Sporadic--but not variant--Creutzfeldt-Jakob disease is associated with polymorphisms upstream of PRNP exon 1 Am J Hum Genet 2001 Dec;69(6):1225-35 Epub 2001 Nov 5

Miller RD, Taillon-Miller P, Kwok PY Regions of low single-nucleotide polymorphism incidence in human and orangutan xq: deserts and recent coalescences Genomics 2001 Jan 1;71(1):78-88

Naumova AK, Greenwood CM, Morgan K Imprinting and deviation from Mendelian transmission ratios Genome 2001 Jun;44(3):311-20

Bonnen PE, Story MD, Ashorn CL, Buchholz TA, Weil MM, Nelson DL Haplotypes at ATM identify coding-sequence variation and indicate a region of extensive linkage disequilibrium Am J Hum Genet 2000 Dec;67(6):1437-51 Epub 2000 Nov 14.

Broman KW, Weber JL Characterization of human crossover interference Am J Hum Genet 2000 Jun;66(6):1911-26 Epub 2000 May 8

Bugawan TL, Klitz W, Blair A, Erlich HA High-resolution HLA class I typing in the CEPH families: analysis of linkage disequilibrium among HLA loci Tissue Antigens 2000 Nov;56(5):392-404

Dai KZ, Vergnaud G, Ando A, Inoko H, Spurkland A The SH2D2A gene encoding the T-cell-specific adapter protein (TSAd) is localized centromeric to the CD1 gene cluster on human Chromosome 1 Immunogenetics 2000 Mar;51(3):179-85

Medhioub M, Vaury C, Hamelin R, Thomas G Lack of somatic mutation in the coding sequence of SIAH1 in tumors hemizygous for this candidate tumor suppressor gene Int J Cancer 2000 Sep 15;87(6):794-7

Djoulah S, Le Monnier de Gouville I, Martuchou-Dehay C, Busson M, Charron D, Hors J [HLA-C allele recognition using DNA sequencing] Pathol Biol (Paris) 1999 Oct;47(8):812-8 French

Yip SP, Lovegrove JU, Rana NA, Hopkinson DA, Whitehouse DB Mapping recombination hotspots in human phosphoglucomutase (PGM1) Hum Mol Genet 1999 Sep;8(9):1699-706

Baasner A, Schäfer C, Junge A, Madea B Polymorphic sites in human mitochondrial DNA control region sequences: population data and maternal inheritance Forensic Sci Int 1998 Dec 21;98(3):169-78

Broman KW, Murray JC, Sheffield VC, White RL, Weber JL Comprehensive human genetic maps: individual and sex-specific variation in recombination Am J Hum Genet 1998 Sep;63(3):861-9

de la Puente A, Velasco E, Pérez Jurado LA, Hernández-Chico C, van de Rijke FM, Scherer SW, Raap AK, Cruces J Analysis of the monomeric alphoid sequences in the pericentromeric region of human chromosome 7 Cytogenet Cell Genet 1998;83(3-4):176-81

Baerwald CG, Panayi GS, Lanchbury JS Corticotropin releasing hormone promoter region polymorphisms in rheumatoid arthritis J Rheumatol 1997 Jan;24(1):215-6

Haddad L, Day LB, Attwood J, Povey S, Humphries SE, Day IN Development of a microsatellite-based approach to co-segregation analysis of familial hypercholesterolaemic kindreds Ann Hum Genet 1997 Nov;61(Pt 6):497-506

Kala P, Koptides M, Diangelo S, Hoover RR, Lin Z, Veletza V, Kouretas D, Floros J Characterization of markers flanking the human SP-B locus Dis Markers 1997 Nov;13(3):153-67

Moonsamy PV, Klitz W, Tilanus MG, Begovich AB Genetic variability and linkage disequilibrium within the DP region in the CEPH families Hum Immunol 1997 Dec;58(2):112-21

Povey S, Attwood J, Chadwick B, Frezal J, Haines JL, Knowles M, Kwiatkowski DJ, Olopade OI, Slaugenhaupt S, Spurr NK, Smith M, Steel K, White JA, Pericak-Vance MA Report on the Fifth International Workshop on Chromosome 9 held at Eynsham, Oxfordshire, UK, September 4-6, 1996 Ann Hum Genet 1997 May;61(Pt3):183-206

Riess O, Schöls L, Bottger H, Nolte D, Vieira-Saecker AM, Schimming C, Kreuz F, Macek M Jr, Krebsová A, Macek M Sen, Klockgether T, Zühlke C, Laccone FA SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene Hum Mol Genet 1997 Aug;6(8):1289-93

Rubinsztein DC, Leggo J Non-Mendelian transmission at the Machado-Joseph disease locus in normal females: preferential transmission of alleles with smaller CAG repeats J Med Genet 1997 Mar;34(3):234-6

Shimron-Abarbanell D, Erdmann J, Vogt IR, Bryant SP, Spurr NK, Knapp M, Propping P, Nöthen MM Human 5-HT5A receptor gene: systematic screening for DNA sequence variation and linkage mapping on chromosome 7q34-q36 using a polymorphism in the 5' untranslated region Biochem Biophys Res Commun 1997 Apr 7;233(1):6-9

Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Marc S, Hazan J, Seboun E, Lathrop M, Gyapay G, Morissette J, Weissenbach J A comprehensive genetic map of the human genome based on 5,264 microsatellites Nature 1996 Mar 14;380(6570):152-4

Gedeon AK, Kozman HM, Robinson H, Pilia G, Schlessinger D, Turner G, Mulley JC Refinement of the background genetic map of Xq26-q27 and gene localisation for Börjeson-Forssman-Lehmann Syndrome Am J Med Genet 1996 Jul 12;64(1):63-8.

Jarnik M, Tang JQ, Korab-Laskowska M, Zietkiewicz E, Cardinal G, Gorska-Flipot I, Sinnett D, Labuda D Overall informativity, OI, in DNA polymorphisms revealed by inter-Alu PCR: detection of genomic rearrangements Genomics 1996 Sep 15;36(3):388-98

Pigny P, Guyonnet-Duperat V, Hill AS, Pratt WS, Galiegue-Zouitina S, d'Hooge MC, Laine A, Van-Seuningen I, Degand P, Gum JR, Kim YS, Swallow DM, Aubert JP, Porchet N Human mucin genes assigned to 11p15.5: identification and organization of a cluster of genes Genomics 1996 Dec 15;38(3):340-52

Polymeropoulos MH, Ide SE, Becker K, Naylor SL Linkage and cytogenetic mapping of a CAG repeat containing human cDNA to 3p24.2-p22 Cancer Genet Cytogenet 1996 Nov;92(1):46-9

Prades C, Laurent AM, Yurov Y, Puechberty J, Roizès G A 19-allele polymorphic marker within the centromere of human chromosome 5 Cytogenet Cell Genet 1996;72(1):69-71

Begy CR, Dierick HA, Innis JW, Glover TW Two highly polymorphic CA repeats in the Menkes gene (ATP7A) Hum Genet 1995 Sep;96(3):355-6

Blouin JL, Christie DH, Gos A, Lynn A, Morris MA, Ledbetter DH, Chakravarti A, Antonarakis SE A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination Am J Hum Genet 1995 Aug;57(2):388-94

Cox S, Bryant SP, Collins A, Weissenbach J, Donis-Keller H, Koeleman BP, Steinkasserer A, Spurr NK Integrated genetic map of human chromosome 2 Ann Hum Genet 1995 Oct;59(Pt 4):413-34

Deckert J, Nöthen MM, Bryant SP, Ren H, Wolf HK, Stiles GL, Spurr NK, Propping P Human adenosine A1 receptor gene: systematic screening for DNA sequence variation and linkage mapping on chromosome 1q31-32.1 using a silent polymorphism in the coding region Biochem Biophys Res Commun 1995 Sep 14;214(2):614-21

Fujita R, Skolnick C, Pakstis AJ, Yang-Feng TL, Swaroop A Dinucleotide polymorphism at the DXS1178 locus is tightly linked to PGK1 at Xq13 Hum Genet 1995 Apr;95(4):467-8

Gerken SC, Albertsen H, Elsner T, Ballard L, Holik P, Lawrence E, Moore M, Zhao X, White R A strategy for constructing high-resolution genetic maps of the human genome: a genetic map of chromosome 17p, ordered with meiotic breakpoint-mapping panels Am J Hum Genet 1995 Feb;56(2):484-99

Johnson EW, Iyer LM, Rich SS, Orr HT, Gil-Nagel A, Kurth JH, Zabramski JM, Marchuk DA, Weissenbach J, Clericuzio CL, Davis LE, Hart BL, Gusella JF, Kosofsky BE, Louis DN, Morrison LA, Green ED, Weber JL Refined localization of the cerebral cavernous malformation gene (CCM1) to a 4-cM interval of chromosome 7q contained in a well-defined YAC contig Genome Res 1995 Nov;5(4):368-80

Kozman HM, Keith TP, Donis-Keller H, White RL, Weissenbach J, Dean M, Vergnaud G, Kidd K, Gusella J, Royle NJ, et al The CEPH consortium linkage map of human chromosome 16 Genomics 1995 Jan 1;25(1):44-58

Lappalainen J, Dean M, Charbonneau L, Virkkunen M, Linnoila M, Goldman D Mapping of the serotonin 5-HT1D beta autoreceptor gene on chromosome 6 and direct analysis for sequence variants Am J Med Genet 1995 Apr 24;60(2):157-61

Lappalainen J, Zhang L, Dean M, Oz M, Ozaki N, Yu DH, Virkkunen M, Weight F, Linnoila M, Goldman D Identification, expression, and pharmacology of a Cys23-Ser23 substitution in the human 5-HT2c receptor gene (HTR2C) Genomics 1995 May 20;27(2):274-9

Olschwang S, Laurent-Puig P, Melot T, Thuille B, Thomas G High resolution genetic map of the adenomatous polyposis coli gene (APC) region Am J Med Genet 1995 May 8;56(4):413-9

Summar ML, Dasouki MJ, Schofield PJ, Krishnamani MR, Vnencak-Jones C, Tuchman M, Mao J, Phillips JA 3rd Physical and linkage mapping of human carbamyl phosphate synthetase I (CPS1) and reassignment from 2p to 2q35 Cytogenet Cell Genet 1995;71(3):266-7

Talbot CC Jr, Avramopoulos D, Gerken S, Chakravarti A, Armour JA, Matsunami N, White R, Antonarakis SE The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells Hum Mol Genet 1995 Jul;4(7):1193-9

Weeks DE, Nygaard TG, Neystat M, Harby LD, Wilhelmsen KC A high-resolution genetic linkage map of the pericentromeric region of the human X chromosome Genomics 1995 Mar 1;26(1):39-46

Yankowitz J, Li S, Murray JC Polymerase chain reaction determination of RhD blood type: an evaluation of accuracy Obstet Gynecol 1995 Aug;86(2):214-7.

Banchs I, Bosch A, Guimerà J, Lázaro C, Puig A, Estivill X New alleles at microsatellite loci in CEPH families mainly arise from somatic mutations in the lymphoblastoid cell lines Hum Mutat 1994;3(4):365-72 Erratum in: Hum Mutat 1994;4(3):232

Biancalana V, Trivier E, Weber C, Weissenbach J, Rowe PS, O'Riordan JL, Partington MW, Heyberger S, Oudet C, Hanauer A Construction of a high-resolution linkage map for Xp22.1-p22.2 and refinement of the genetic localization of the Coffin-Lowry syndrome gene Genomics 1994 Aug;22(3):617-25

Brett PM, Le Bourdelles B, See CG, Whiting PJ, Attwood J, Woodward K, Robertson MM, Kalsi G, Povey S, Gurling HM Genomic cloning and localization by FISH and linkage analysis of the human gene encoding the primary subunit NMDAR1 (GRIN1) of the NMDA receptor channel Ann Hum Genet 1994 May;58(Pt 2):95-100.

Carrington M, Stephens JC, Klitz W, Begovich AB, Erlich HA, Mann D Major histocompatibility complex class II haplotypes and linkage disequilibrium values observed in the CEPH families Hum Immunol 1994 Nov;41(3):234-40

Chen H, Lowther W, Avramopoulos D, Antonarakis SE Homologous loci DXYS156X and DXYS156Y contain a polymorphic pentanucleotide repeat (TAAAA)n and map to human X and Y chromosomes Hum Mutat 1994;4(3):208-11

Chyan YJ, Ackerman S, Shepherd NS, McBride OW, Widen SG, Wilson SH, Wood TG The human DNA polymerase beta gene structure Evidence of alternative splicing in gene expression Nucleic Acids Res 1994 Jul 25;22(14):2719-25

Cox DW, Billingsley G, Nguyen VT A linkage map of human chromosome 14, including 13 gene loci Genomics 1994 Sep 15;23(2):331-7

Glavac D, Ravnik-Glavac M, O'Brien SJ, Dean M Polymorphisms in the 3' untranslated region of the I kappa B/MAD-3 (NFKBI) gene located on chromosome 14 Hum Genet 1994 Jun;93(6):694-6

Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, Marc S, Bernardi G, Lathrop M, Weissenbach J The 1993-94 Généthon human genetic linkage map Nat Genet 1994 Jun;7(2 Spec No):246-339

Jedlicka AE, Taylor EW, Meyers DA, Liu Z, Levitt RC Localization of the highly polymorphic locus D19S120 to 19p13.3 by linkage Cytogenet Cell Genet 1994;65(1-2):140

Jones EM, Menzel S, Espinosa R 3rd, Le Beau MM, Bell GI, Takeda J Localization of the gene encoding a neutral amino acid transporter-like protein to human chromosome band 19q13.3 and characterization of a simple sequence repeat DNA polymorphism Genomics 1994 Sep 15;23(2):490-1

Menzel S, Stoffel M, Espinosa R 3rd, Fernald AA, Le Beau MM, Bell GI Localization of the glucagon receptor gene to human chromosome band 17q25 Genomics 1994 Mar 15;20(2):327-8

Nemani M, Cherif D, Chesne H, Pelandakis M, Ougen P, Berger R, Weissenbach J, Le Paslier D, Cohen D, Cann HM A YAC contig in 6p23 based on sequence tagged sites Genomics 1994 Jul 15;22(2):388-96

Schwengel DA, Jedlicka AE, Nanthakumar EJ, Weber JL, Levitt RC Comparison of fluorescence-based semi-automated genotyping of multiple microsatellite loci with autoradiographic techniques Genomics 1994 Jul 1;22(1):46-54

Shen Y, Kozman HM, Thompson A, Phillips HA, Holman K, Nancarrow J, Lane S, Chen LZ, Apostolou S, Doggett NA, et al A PCR-based genetic linkage map of human chromosome 16 Genomics 1994 Jul 1;22(1):68-76

Su YR, Klanke CA, Houseal TW, Linn SC, Burk SE, Varvil TS, Otterud BE, Shull GE, Leppert MF, Menon AG Molecular cloning and physical and genetic mapping of the human anion exchanger isoform 3 (SLC2C) gene to chromosome 2q36 Genomics.1994 Aug;22(3):605-9

Tiller GE, Polumbo PA, Summar ML Linkage mapping of the gene for type III collagen (COL3A1) to human chromosome 2q using a VNTR polymorphism Genomics 1994 Mar 15;20(2):275-7

Vora DK, Rosenbloom CL, Beaudet AL, Cottingham RW Polymorphisms and linkage analysis for ICAM-1 and the selectin gene cluster Genomics 1994 Jun;21(3):473-7

Wirth B, Pick E, Leutner A, Dadze A, Voosen B, Knapp M, Piechaczek-Wappenschmidt B, Rudnik-Schöneborn S, Schönling J, Cox S, et al Large linkage analysis in 100 families with autosomal recessive spinal muscular atrophy (SMA) and 11 CEPH families using 15 polymorphic loci in the region 5q11.2-q13.3 Genomics 1994 Mar 1;20(1):84-93

Avramopoulos D, Cox T, Kraus JP, Chakravarti A, Antonarakis SE Linkage mapping of the cystathionine beta-synthase (CBS) gene on human chromosome 21 using a DNA polymorphism in the 3' untranslated region Hum Genet 1993 Jan;90(5):566-8

Chen H, Kalaitsidaki M, Warren AC, Avramopoulos D, Antonarakis SE A novel zinc finger cDNA with a polymorphic pentanucleotide repeat (ATTTT)n maps on human chromosome 19p Genomics 1993 Mar;15(3):621-5

Gelernter J, Kruger S, Pakstis AJ, Pacholczyk T, Sparkes RS, Kidd KK, Amara S Assignment of the norepinephrine transporter protein (NET1) locus to chromosome 16 Genomics 1993 Dec;18(3):690-2

Gregg RG, Couch F, Hogan K, Powers PA Assignment of the human gene for the alpha 1 subunit of the skeletal muscle DHP-sensitive Ca2+ channel (CACNL1A3) to chromosome 1q31-q32 Genomics 1993 Jan;15(1):107-12

Gregg RG, Powers PA, Hogan K Assignment of the human gene for the beta subunit of the voltage-dependent calcium channel (CACNLB1) to chromosome 17 using somatic cell hybrids and linkage mapping Genomics 1993 Jan;15(1):185-7

Harvey CB, Fox MF, Jeggo PA, Mantei N, Povey S, Swallow DM Regional localization of the lactase-phlorizin hydrolase gene, LCT, to chromosome 2q21 Ann Hum Genet 1993 Jul;57(Pt 3):179-85

Henke A, Fischer C, Rappold GA Genetic map of the human pseudoautosomal region reveals a high rate of recombination in female meiosis at the Xp telomere Genomics 1993 Dec;18(3):478-85

Hoehe MR, Ehrenreich H, Otterud B, Caenazzo L, Plaetke R, Zander H, Leppert M The human endothelin-1 gene (EDN1) encoding a peptide with potent vasoactive properties maps distal to HLA on chromosome arm 6p in close linkage to D6S89 Cytogenet Cell Genet 1993;62(2-3):131-5

Jabs EW, Li X, Lovett M, Yamaoka LH, Taylor E, Speer MC, Coss C, Cadle R, Hall B, Brown K, et al Genetic and physical mapping of the Treacher Collins syndrome locus with respect to loci in the chromosome 5q3 region Genomics 1993 Oct;18(1):7-13

Johnson B, Brooks BA, Heinzmann C, Diep A, Mohandas T, Sparkes RS, Reyes H, Hoffman E, Lange E, Gatti RA, et al The Ah receptor nuclear translocator gene (ARNT) is located on q21 of human chromosome 1 and on mouse chromosome 3 near Cf-3 Genomics 1993 Sep;17(3):592-8

Jorde LB, Watkins WS, Viskochil D, O'Connell P, Ward K Linkage disequilibrium in the neurofibromatosis 1 (NF1) region: implications for gene mapping Am J Hum Genet 1993 Nov;53(5):1038-50

Koyama K, Emi M, Nakamura Y The cell adhesion regulator (CAR) gene, TaqI and insertion/deletion polymorphisms, and regional assignment to the peritelomeric region of 16q by linkage analysis Genomics 1993 Apr;16(1):264-5

Kumar-Singh R, Wang H, Humphries P, Farrar GJ Autosomal dominant retinitis pigmentosa: no evidence for nonallelic genetic heterogeneity on 3q Am J Hum Genet 1993 Feb;52(2):319-26

Lázaro C, Gaona A, Ravella A, Volpini V, Casals T, Fuentes JJ, Estivill X Novel alleles, hemizygosity and deletions at an Alu-repeat within the neurofibromatosis type 1 (NF1) gene Hum Mol Genet 1993 Jun;2(6):725-30

Litt M, Kramer P, Hauge XY, Weber JL, Wang Z, Wilkie PJ, Holt MS, Mishra S, Donis-Keller H, Warnich L, et al A microsatellite-based index map of human chromosome 11 Hum Mol Genet 1993 Jul;2(7):909-13

March RE, Hollyoake M, Putt W, Hopkinson DA, Edwards YH, Whitehouse DB Genetic polymorphism in the 3' untranslated region of human phosphoglucomutase-1 Ann Hum Genet 1993 Jan;57(Pt 1):1-8

Nagano K, Nakura J, Kihara K, Ye L, Kamino K, Mitsuda N, Ohta T, Jinno Y, Niikawa N, Miki T, et al Isolation and mapping of microsatellites from a library microdissected from the Werner syndrome region, 8p11.2-p22 Jpn J Hum Genet 1993 Dec;38(4):391-7

Neuman WL, Westbrook CA, Dixon M, Espinosa R 3rd, Patel YD, Nakamura Y,Weiffenbach B, Le Beau MM Physical localization of 70 polymorphic markers to human chromosome 5 by fluorescence in situ hybridization Cytogenet Cell Genet 1993;62(4):207-10

Richard I, Devaud C, Cherif D, Cohen D, Beckmann JS The gene for creatine kinase, mitochondrial 2 (sarcomeric; CKMT2), maps to chromosome 5q13.3 Genomics 1993 Oct;18(1):134-6

Royle NJ, Armour JA, Crosier M, Jeffreys AJ Abnormal segregation of alleles in CEPH pedigree DNAs arising from allele loss in lymphoblastoid DNA Genomics 1993 Jan;15(1):119-22

Schurmans S, Muscatelli F, Miot F, Mattei MG, Vassart G, Parmentier M The OLFR1 gene encoding the HGMP07E putative olfactory receptor maps to the 17p13-->p12 region of the human genome and reveals an MspI restriction fragment length polymorphism Cytogenet Cell Genet 1993;63(3):200-4

Schwengel DA, Nouri N, Meyers DA, Levitt RC Linkage mapping of the human thromboxane A2 receptor (TBXA2R) to chromosome 19p13.3 using transcribed 3' untranslated DNA sequence polymorphisms Genomics 1993 Nov;18(2):212-5

Yi H, Donohue SJ, Klein DC, McBride OW Localization of the hydroxyindole-O-methyltransferase gene to the pseudoautosomal region: implications for mapping of psychiatric disorders Hum Mol Genet 1993 Feb;2(2):127-31

Avramopoulos D, Cox T, Blaschak JE, Chakravarti A, Antonarakis SE Linkage mapping of the AML1 gene on human chromosome 21 using a DNA polymorphism in the 3' untranslated region Genomics 1992 Oct;14(2):506-7

Børglum AD, Byskov A, Ragno P, Roldan AL, Tripputi P, Cassani G, Danø K, Blasi F, Bolund L, Kruse TA Assignment of the urokinase-type plasminogen activator receptor gene (PLAUR) to chromosome 19q13.1-q13.2 Am J Hum Genet 1992 Mar;50(3):492-7

Eng CM, Durtschi BA, Zoghbi HY, Beaudet AL Isolation, mapping, and characterization of two cDNA clones expressed in the cerebellum Genomics 1992 Nov;14(3):813-5

Gelernter J, Pakstis AJ, Grandy D, Litt M, Retief AE, Kennedy JL, Hing-Loh A, Schoolfield G, Civelli O, Kidd KK Linkage map of eight human chromosome 11q markers, including DRD2, spanning 60 cM Cytogenet Cell Genet 1992;60(1):26-8.

Hazan J, Dubay C, Pankowiak MP, Becuwe N, Weissenbach J A genetic linkage map of human chromosome 20 composed entirely of microsatellite markers Genomics 1992 Feb;12(2):183-9

Nielsen DA, Dean M, Goldman D Genetic mapping of the human tryptophan hydroxylase gene on chromosome 11, using an intronic conformational polymorphism Am J Hum Genet 1992 Dec;51(6):1366-71

Oudet C, Hanauer A, Clemens P, Caskey T, Mandel JL Two hot spots of recombination in the DMD gene correlate with the deletion prone regions Hum Mol Genet 1992 Nov;1(8):599-603

Richard I, Broux O, Hillaire D, Cherif D, Fougerousse F, Cohen D, Beckmann JS Mapping of the formin gene and exclusion as a candidate gene for the autosomal recessive form of limb-girdle muscular dystrophy Hum Mol Genet 1992 Nov;1(8):621-4

Steinkasserer A, Spurr NK, Cox S, Jeggo P, Sim RB The human IL-1 receptor antagonist gene (IL1RN) maps to chromosome 2q14-q21, in the region of the IL-1 alpha and IL-1 beta loci Genomics 1992 Jul;13(3):654-7

Zhong S, Wolf CR, Spurr NK Chromosomal assignment and linkage analysis of the human glutathione S-transferase mu gene (GSTM1) using intron specific polymerase chain reaction Hum Genet 1992 Dec;90(4):435-9

Alitalo T, Kruse TA, de la Chapelle A Refined localization of the gene causing X-linked juvenile retinoschisis Genomics 1991 Mar;9(3):505-10

Blanché H, Zoghbi HY, Jabs EW, de Gouyon B, Zunec R, Dausset J, Cann HM A centromere-based genetic map of the short arm of human chromosome 6 Genomics 1991 Mar;9(3):420-8

Coleman MP, Murray JC, Willard HF, Nolan KF, Reid KB, Blake DJ, Lindsay S, Bhattacharya SS, Wright A, Davies KE Genetic and physical mapping around the properdin P gene Genomics 1991 Dec;11(4):991-6

Dean M, Lucas-Derse S, Bolos A, O'Brien SJ, Kirkness EF, Fraser CM, Goldman D Genetic mapping of the beta 1 GABA receptor gene to human chromosome 4, using a tetranucleotide repeat polymorphism Am J Hum Genet 1991 Sep;49(3):621-6.

Foroud T, Wei S, Ziv Y, Sobel E, Lange E, Chao A, Goradia T, Huo Y, Tolun A, Chessa L, Charmley P, Sanal O, Salman N, Julier C, Concannon P, McConville C, Taylor AM, Shiloh Y, Lange SK, Gatti RA Localization of an ataxia-telangiectasia locus to a 3-cM interval on chromosome 11q23: linkage analysis of 111 families by an international consortium Am J Hum Genet 1991 Dec;49(6):1263-79

Huang TH, Hejtmancik JF, Edwards A, Pettigrew AL, Herrera CA, Hammond HA, Caskey CT, Zoghbi HY, Ledbetter DH Linkage of the gene for an X-linked mental retardation disorder to a hypervariable (AGAT)n repeat motif within the human hypoxanthine phosphoribosyltransferase (HPRT) locus (Xq26) Am J Hum Genet 1991 Dec;49(6):1312-9

Jabs EW, Warren AC, Taylor EW, Colyer CR, Meyers DA, Antonarakis SE Alphoid DNA polymorphisms for chromosome 21 can be distinguished from those of chromosome 13 using probes homologous to both Genomics 1991 Jan;9(1):141-6

McInnis MG, Lutfalla G, Slaugenhaupt S, Petersen MB, Uze G, Chakravarti A, Antonarakis SE Linkage mapping of highly informative DNA polymorphisms within the human interferon-alpha receptor gene on chromosome 21 Genomics 1991 Nov;11(3):573-6

Petersen MB, Slaugenhaupt SA, Lewis JG, Warren AC, Chakravarti A, Antonarakis SE A genetic linkage map of 27 markers on human chromosome 21 Genomics 1991 Mar;9(3):407-19

Petersen MB, Weber JL, Slaugenhaupt SA, Kwitek AE, McInnis MG, Chakravarti A, Antonarakis SE Linkage mapping of D21S171 to the distal long arm of human chromosome 21 using a polymorphic (AC)n dinucleotide repeat Hum Genet 1991 Aug;87(4):401-4

Vergnaud G, Mariat D, Apiou F, Aurias A, Lathrop M, Lauthier V The use of synthetic tandem repeats to isolate new VNTR loci: cloning of a human hypermutable sequence Genomics 1991 Sep;11(1):135-44

Ballabio A, Bardoni B, Guioli S, Basler E, Camerino G Two families of low-copy-number repeats are interspersed on Xp22.3: implications for the high frequency of deletions in this region Genomics 1990 Oct;8(2):263-70

Concannon P, Malhotra U, Charmley P, Reynolds J, Lange K, Gatti RA The ataxia-telangiectasia gene (ATA) on chromosome II is distinct from the ETS-1 gene Am J Hum Genet 1990 Apr;46(4):789-94

Cutting GR, McGinniss MJ, Kasch LM, Tsipouras P, Antonarakis SE Physical mapping by PFGE localizes the COL3A1 and COL5A2 genes to a 35-kb region on human chromosome 2 Genomics 1990 Oct;8(2):407-10

Hsieh CL, Bowcock AM, Farrer LA, Hebert JM, Huang KN, Cavalli-Sforza LL, Julius D, Francke U The serotonin receptor subtype 2 locus HTR2 is on human chromosome 13 near genes for esterase D and retinoblastoma-1 and on mouse chromosome 14 Somat Cell Mol Genet 1990 Nov;16(6):567-74

Lewis JG, Weber JL, Petersen MB, Slaugenhaupt SA, Kwitek A, May PE, Warren AC, Chakravarti A, Antonarakis SE Linkage mapping of the highly informative DNA marker D21S156 to human chromosome 21 using a polymorphic GT dinucleotide repeat Genomics 1990 Oct;8(2):400-2

Mahtani MM, Willard HF Pulsed-field gel analysis of alpha-satellite DNA at the human X chromosome centromere: high-frequency polymorphisms and array size estimate Genomics 1990 Aug;7(4):607-13

Miki T, Takemoto Y, Nakura J, Endo Y, Ogihara T [Towards cloning the gene responsible for myotonic dystrophy] Hum Cell 1990 Dec;3(4):323-7 Japanese.

Petersen MB, Economou EP, Slaugenhaupt SA, Chakravarti A, Antonarakis SE Linkage analysis of the human HMG14 gene on chromosome 21 using a GT dinucleotide repeat as polymorphic marker Genomics 1990 May;7(1):136-8

Brooks BA, McBride OW, Dolphin CT, Farrall M, Scambler PJ, Gonzalez FJ, Idle JR The gene CYP3 encoding P450pcn1 (nifedipine oxidase) is tightly linked to the gene COL1A2 encoding collagen type 1 alpha on 7q21-q22.1 Am J Hum Genet 1988 Sep;43(3):280-4

Zoghbi HY, O'Brien WE, Ledley FD Linkage relationships of the human methylmalonyl CoA mutase to the HLA and D6S4 loci on chromosome 6 Genomics 1988 Nov;3(4):396-8