My Bibliography

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Genetic mapping using haplotype, association and linkage methods suggests a locus for severe bipolar disorder. Nature genetics. . NIHMSID: NIHMS178323.

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Genome-wide mapping of brain phenotypes in extended pedigrees with strong genetic loading for bipolar disorder. Molecular psychiatry. . NIHMSID: NIHMS1599148.

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Rare coding variants in ten genes confer substantial risk for schizophrenia. Nature. . NIHMSID: NIHMS1847886.

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Haplotype sharing provides insights into fine-scale population history and disease in Finland. American journal of human genetics. . NIHMSID: NIHMS963831.doi: 10.1016/j.ajhg.2018.03.003.

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Freimer NB, Ogmundsdóttir HM, Blackwell CC, Sutherland IW, Graham L, Weir DM. The role of cell wall carbohydrates in binding of microorganisms to mouse peritoneal exudate macrophages. Acta Pathol Microbiol Scand B. 1978 Apr;86(2):53-7. doi: 10.1111/j.1699-0463.1978.tb00009.x. PubMed PMID: 696323.

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Mautner HG, Lorenc C, Quain P, Marquis JK, Tasaki I. Synthesis and study of conformationally defined enantiomers of local anesthetics and conformationally defined enantiomers of fluorescent dyes designed to label electrically excitable membranes. J Med Chem. 1980 Mar;23(3):282-5. doi: 10.1021/jm00177a014. PubMed PMID: 7365743.

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Lindman B. Effect of NaCl on kinetics of D-glucosamine uptake in yeasts differing in halotolerance. Antonie Van Leeuwenhoek. 1981;47(4):297-306. doi: 10.1007/BF02350780. PubMed PMID: 7044305.

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Nahata MC, Freimer N, Hilty MD. Decreased absorption of cefaclor in short bowel syndrome. Drug Intell Clin Pharm. 1983 Mar;17(3):201-2. doi: 10.1177/106002808301700307. PubMed PMID: 6839944.

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Freimer N, Echenberg D, Kretchmer N. Cultural variation--nutritional and clinical implications. West J Med. 1983 Dec;139(6):928-33. Review. PubMed PMID: 6364578; PubMed Central PMCID: PMC1011027.

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Freimer N, Lu F, Chen J. Posttraumatic stress and conversion disorders in a Laotian refugee veteran: use of amobarbital interviews. J Nerv Ment Dis. 1989 Jul;177(7):432-3. doi: 10.1097/00005053-198907000-00008. PubMed PMID: 2746196.

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Gilliam TC, Freimer NB, Kaufmann CA, Powchik PP, Bassett AS, Bengtsson U, Wasmuth JJ. Deletion mapping of DNA markers to a region of chromosome 5 that cosegregates with schizophrenia. Genomics. 1989 Nov;5(4):940-4. doi: 10.1016/0888-7543(89)90138-9. PubMed PMID: 2591972; PubMed Central PMCID: PMC3154173.

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Kleyn PW, Brzustowicz LM, Wilhelmsen KC, Freimer NB, Miller JM, Munsat TL, Gilliam TC. Spinal muscular atrophy is not the result of mutations at the beta-hexosaminidase or GM2-activator locus. Neurology. 1991 Sep;41(9):1418-22. doi: 10.1212/wnl.41.9.1418. PubMed PMID: 1679910.

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Consalez GG, Stayton CL, Freimer NB, Goonewardena P, Brown WT, Gilliam TC, Warren ST. Isolation and characterization of a highly polymorphic human locus (DXS455) in proximal Xq28. Genomics. 1992 Apr;12(4):710-4. doi: 10.1016/0888-7543(92)90299-8. PubMed PMID: 1572645.

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Baron M, Freimer NF, Risch N, Lerer B, Alexander JR, Straub RE, Asokan S, Das K, Peterson A, Amos J. Diminished support for linkage between manic depressive illness and X-chromosome markers in three Israeli pedigrees. Nat Genet. 1993 Jan;3(1):49-55. doi: 10.1038/ng0193-49. PubMed PMID: 8490654.

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Valdes AM, Slatkin M, Freimer NB. Allele frequencies at microsatellite loci: the stepwise mutation model revisited. Genetics. 1993 Mar;133(3):737-49. doi: 10.1093/genetics/133.3.737. PubMed PMID: 8454213; PubMed Central PMCID: PMC1205356.

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Freimer NB, Sandkuijl LA, Blower SM. Incorrect specification of marker allele frequencies: effects on linkage analysis. Am J Hum Genet. 1993 Jun;52(6):1102-10. PubMed PMID: 8503444; PubMed Central PMCID: PMC1682284.

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Di Rienzo A, Peterson A, Das S, Freimer NB. Genome mapping by arbitrary amplification of yeast artificial chromosomes. Mamm Genome. 1993;4(7):359-63. doi: 10.1007/BF00360585. PubMed PMID: 8358170.

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Di Rienzo A, Peterson AC, Garza JC, Valdes AM, Slatkin M, Freimer NB. Mutational processes of simple-sequence repeat loci in human populations. Proc Natl Acad Sci U S A. 1994 Apr 12;91(8):3166-70. doi: 10.1073/pnas.91.8.3166. PubMed PMID: 8159720; PubMed Central PMCID: PMC43536.

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Houwen RH, Baharloo S, Blankenship K, Raeymaekers P, Juyn J, Sandkuijl LA, Freimer NB. Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis. Nat Genet. 1994 Dec;8(4):380-6. doi: 10.1038/ng1294-380. PubMed PMID: 7894490.

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Peterson AC, Di Rienzo A, Lehesjoki AE, de la Chapelle A, Slatkin M, Freimer NB. The distribution of linkage disequilibrium over anonymous genome regions. Hum Mol Genet. 1995 May;4(5):887-94. doi: 10.1093/hmg/4.5.887. PubMed PMID: 7633449.

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Carlton VE, Knisely AS, Freimer NB. Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region. Hum Mol Genet. 1995 Jun;4(6):1049-53. doi: 10.1093/hmg/4.6.1049. PubMed PMID: 7655458.

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McInnes LA, Freimer NB. Mapping genes for psychiatric disorders and behavioral traits. Curr Opin Genet Dev. 1995 Jun;5(3):376-81. doi: 10.1016/0959-437x(95)80054-9. Review. PubMed PMID: 7549434.

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Garza JC, Slatkin M, Freimer NB. Microsatellite allele frequencies in humans and chimpanzees, with implications for constraints on allele size. Mol Biol Evol. 1995 Jul;12(4):594-603. doi: 10.1093/oxfordjournals.molbev.a040239. PubMed PMID: 7659015.

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Garza JC, Freimer NB. Homoplasy for size at microsatellite loci in humans and chimpanzees. Genome Res. 1996 Mar;6(3):211-7. doi: 10.1101/gr.6.3.211. PubMed PMID: 8963898.

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Freimer NB, Reus VI, Escamilla MA, McInnes LA, Spesny M, Leon P, Service SK, Smith LB, Silva S, Rojas E, Gallegos A, Meza L, Fournier E, Baharloo S, Blankenship K, Tyler DJ, Batki S, Vinogradov S, Weissenbach J, Barondes SH, Sandkuijl LA. Genetic mapping using haplotype, association and linkage methods suggests a locus for severe bipolar disorder (BPI) at 18q22-q23. Nat Genet. 1996 Apr;12(4):436-41. doi: 10.1038/ng0496-436. PubMed PMID: 8630501.

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Freimer NB, Blower S, Slatkin M. Pathogens & strain diversity: is sex disruptive?. Nat Med. 1996 Apr;2(4):401-3. doi: 10.1038/nm0496-401. PubMed PMID: 8597947.

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Escamilla MA, Spesny M, Reus VI, Gallegos A, Meza L, Molina J, Sandkuijl LA, Fournier E, Leon PE, Smith LB, Freimer NB. Use of linkage disequilibrium approaches to map genes for bipolar disorder in the Costa Rican population. Am J Med Genet. 1996 May 31;67(3):244-53. doi: 10.1002/(SICI)1096-8628(19960531)67:3<244::AID-AJMG2>3.0.CO;2-N. PubMed PMID: 8725743.

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Freimer NB, Reus VI, Escamilla M, Spesny M, Smith L, Service S, Gallegos A, Meza L, Batki S, Vinogradov S, Leon P, Sandkuijl LA. An approach to investigating linkage for bipolar disorder using large Costa Rican pedigrees. Am J Med Genet. 1996 May 31;67(3):254-63. doi: 10.1002/(SICI)1096-8628(19960531)67:3<254::AID-AJMG3>3.0.CO;2-N. PubMed PMID: 8725744.

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Smith LB, Sapers B, Reus VI, Freimer NB. Attitudes towards bipolar disorder and predictive genetic testing among patients and providers. J Med Genet. 1996 Jul;33(7):544-9. doi: 10.1136/jmg.33.7.544. PubMed PMID: 8818938; PubMed Central PMCID: PMC1050660.

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Crouau-Roy B, Service S, Slatkin M, Freimer N. A fine-scale comparison of the human and chimpanzee genomes: linkage, linkage disequilibrium and sequence analysis. Hum Mol Genet. 1996 Aug;5(8):1131-7. doi: 10.1093/hmg/5.8.1131. PubMed PMID: 8842732.

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McInnes LA, Escamilla MA, Service SK, Reus VI, Leon P, Silva S, Rojas E, Spesny M, Baharloo S, Blankenship K, Peterson A, Tyler D, Shimayoshi N, Tobey C, Batki S, Vinogradov S, Meza L, Gallegos A, Fournier E, Smith LB, Barondes SH, Sandkuijl LA, Freimer NB. A complete genome screen for genes predisposing to severe bipolar disorder in two Costa Rican pedigrees. Proc Natl Acad Sci U S A. 1996 Nov 12;93(23):13060-5. doi: 10.1073/pnas.93.23.13060. PubMed PMID: 8917544; PubMed Central PMCID: PMC24046.

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Sela-Herman S, Bull L, Lomri N, Rahmaoui C, Luther T, Hammerman P, Genant J, Freimer N, Scharschmidt B. In search of a gene for hereditary cholestasis. Biochem Mol Med. 1996 Dec;59(2):98-103. doi: 10.1006/bmme.1996.0073. Review. PubMed PMID: 8986630.

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Di Rienzo A, Peterson AC, Freimer NB. Amplification with arbitrary primers. Methods Mol Biol. 1996;54:123-9. doi: 10.1385/0-89603-313-9:123. PubMed PMID: 8597783.

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Freimer NB, Slatkin M. Microsatellites: evolution and mutational processes. Ciba Found Symp. 1996;197:51-67; discussion 67-72. doi: 10.1002/9780470514887.ch4. Review. PubMed PMID: 8827368.

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Reus VI, Freimer NB. Understanding the genetic basis of mood disorders: where do we stand?. Am J Hum Genet. 1997 Jun;60(6):1283-8. doi: 10.1086/515482. Review. PubMed PMID: 9199547; PubMed Central PMCID: PMC1716132.

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Bull LN, Carlton VE, Stricker NL, Baharloo S, DeYoung JA, Freimer NB, Magid MS, Kahn E, Markowitz J, DiCarlo FJ, McLoughlin L, Boyle JT, Dahms BB, Faught PR, Fitzgerald JF, Piccoli DA, Witzleben CL, O'Connell NC, Setchell KD, Agostini RM Jr, Kocoshis SA, Reyes J, Knisely AS. Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity. Hepatology. 1997 Jul;26(1):155-64. doi: 10.1002/hep.510260121. PubMed PMID: 9214465.

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Strautnieks SS, Kagalwalla AF, Tanner MS, Knisely AS, Bull L, Freimer N, Kocoshis SA, Gardiner RM, Thompson RJ. Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24. Am J Hum Genet. 1997 Sep;61(3):630-3. doi: 10.1086/515501. PubMed PMID: 9326328; PubMed Central PMCID: PMC1715942.

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Sinke RJ, Carlton VE, Juijn JA, Delhaas T, Bull L, van Berge Henegouwen GP, van Hattum J, Keller KM, Sinaasappel M, Bijleveld CM, Knol IE, Ploos van Amstel HK, Pearson PL, Berger R, Freimer NB, Houwen RH. Benign recurrent intrahepatic cholestasis (BRIC): evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64. Hum Genet. 1997 Sep;100(3-4):382-7. doi: 10.1007/s004390050520. PubMed PMID: 9272159.

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Freimer NB, Service SK, Slatkin M. Expanding on population studies. Nat Genet. 1997 Dec;17(4):371-3. doi: 10.1038/ng1297-371. PubMed PMID: 9398830.

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Knisely AS, Freimer NB. Insight into bile duct differentiation takes (notched) wings. Hepatology. 1998 Jan;27(1):298-9. doi: 10.1002/hep.510270145. PubMed PMID: 9425952.

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Baharloo S, Johnston PA, Service SK, Gitschier J, Freimer NB. Absolute pitch: an approach for identification of genetic and nongenetic components. Am J Hum Genet. 1998 Feb;62(2):224-31. doi: 10.1086/301704. PubMed PMID: 9463312; PubMed Central PMCID: PMC1376881.

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Bull LN, van Eijk MJ, Pawlikowska L, DeYoung JA, Juijn JA, Liao M, Klomp LW, Lomri N, Berger R, Scharschmidt BF, Knisely AS, Houwen RH, Freimer NB. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nat Genet. 1998 Mar;18(3):219-24. doi: 10.1038/ng0398-219. PubMed PMID: 9500542.

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Knowles JA, Fyer AJ, Vieland VJ, Weissman MM, Hodge SE, Heiman GA, Haghighi F, de Jesus GM, Rassnick H, Preud'homme-Rivelli X, Austin T, Cunjak J, Mick S, Fine LD, Woodley KA, Das K, Maier W, Adams PB, Freimer NB, Klein DF, Gilliam TC. Results of a genome-wide genetic screen for panic disorder. Am J Med Genet. 1998 Mar 28;81(2):139-47. doi: 10.1002/(sici)1096-8628(19980328)81:2<139::aid-ajmg4>3.0.co;2-r. PubMed PMID: 9613853.

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McInnes LA, Reus VI, Freimer NB. Mapping genes for psychiatric disorders and behavioral traits. Curr Opin Genet Dev. 1998 Jun;8(3):287-92. doi: 10.1016/s0959-437x(98)80083-x. Review. PubMed PMID: 9690997.

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Strautnieks SS, Bull LN, Knisely AS, Kocoshis SA, Dahl N, Arnell H, Sokal E, Dahan K, Childs S, Ling V, Tanner MS, Kagalwalla AF, Németh A, Pawlowska J, Baker A, Mieli-Vergani G, Freimer NB, Gardiner RM, Thompson RJ. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet. 1998 Nov;20(3):233-8. doi: 10.1038/3034. PubMed PMID: 9806540.

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Wolkoff AW, Suchy FJ, Moseley RH, Meier PJ, Gollan JL, Freimer N, Fitz JG, Boyer JL, Berk PD, Scharschmidt BF. Advances in hepatic transport: molecular mechanisms, genetic disorders, and treatment. A summary of the 1998 AASLD single topic conference. Hepatology. 1998 Dec;28(6):1713-9. doi: 10.1002/hep.510280637. Review. PubMed PMID: 9828241.

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Bull LN, Juijn JA, Liao M, van Eijk MJ, Sinke RJ, Stricker NL, DeYoung JA, Carlton VE, Baharloo S, Klomp LW, Abukawa D, Barton DE, Bass NM, Bourke B, Drumm B, Jankowska I, Lovisetto P, McQuaid S, Pawlowska J, Tazawa Y, Villa E, Tygstrup N, Berger R, Knisely AS, Freimer NB. Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC. Hum Genet. 1999 Mar;104(3):241-8. doi: 10.1007/pl00008714. PubMed PMID: 10323248.

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Escamilla MA, McInnes LA, Spesny M, Reus VI, Service SK, Shimayoshi N, Tyler DJ, Silva S, Molina J, Gallegos A, Meza L, Cruz ML, Batki S, Vinogradov S, Neylan T, Nguyen JB, Fournier E, Araya C, Barondes SH, Leon P, Sandkuijl LA, Freimer NB. Assessing the feasibility of linkage disequilibrium methods for mapping complex traits: an initial screen for bipolar disorder loci on chromosome 18. Am J Hum Genet. 1999 Jun;64(6):1670-8. doi: 10.1086/302400. PubMed PMID: 10330354; PubMed Central PMCID: PMC1377910.

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Service SK, Lang DW, Freimer NB, Sandkuijl LA. Linkage-disequilibrium mapping of disease genes by reconstruction of ancestral haplotypes in founder populations. Am J Hum Genet. 1999 Jun;64(6):1728-38. doi: 10.1086/302398. PubMed PMID: 10330361; PubMed Central PMCID: PMC1377917.

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Bull LN, Pabón-Peña CR, Freimer NB. Compound microsatellite repeats: practical and theoretical features. Genome Res. 1999 Sep;9(9):830-8. doi: 10.1101/gr.9.9.830. PubMed PMID: 10508841; PubMed Central PMCID: PMC310808.