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Peer Reviewed Publications 

2024

  • Xicota L, Cosentino S, Vardarajan B, Mayeux R, Perls TT, Andersen SL, Zmuda JM, Thyagarajan B, Yashin A, Wojczynski MK, Krinsky-McHale S, Handen BL, Christian BT. Head E, Mapstone M, Schupf N, Lee JH, Barral S, Long Life Family Study (LLFS); Alzheimer’s Disease Genetic Consortium (ADGC); and Alzheimer’s Biomarkers Consortium-Down Syndrome (ABC-DS).  Whole genome-wide sequence analysis of long-lived families identifies MTUS2 gene associated with Late Onset Alzheimer’s Disease.  Alzheimer’s and Dementia 2024;20(4):2670-2679. doi: 10.1002/alz.13718.;  PMID: 38380866; PMCID: PMC11032545

  • Gorijala P, Aslam MM, Dang LHT, Xicota L, Fernandez V, Sung YJ, Fan K-H, Feingold E, Surace EI, Chhatwal JP, Hom CI, Dominantly Inherited Alzheimer Network (DIAN)*, the Alzheimer’s Disease Neuroimaging Initiative (ADNI)*, NIA-LOAD Family Study, ABC-DS, Hartley SL, Hassenstab J, Perrin RJ, Mapstone M, Zaman S, Ances BM, Kamboh MI, Lee JH, Cruchaga C.  Alzheimer’s polygenic risk score is associated with Dementia and memory phenotypes in Down Syndrome. Alzheimer’s and Dementia. 2024;20(2):1038-1049. doi: 10.1002/alz.13506.;  PMID: 37855447; PMCID: PMC10916941

  • Wang S, Lenzini P, Thygarajan B, Lee JH, Vardarajan B, Yashin A, Miljkovic I, Daw EW, Lin SJ, Patti G, Brent M, Zmuda JM, Perls T, Christensen K, Province MA, An P. A Novel Gene ARHGAP44 for Longitudinal Changes in Glycated Hemoglobin (HbA1c) in Subjects without Type 2 Diabetes: Evidence from the Long Life Family Study (LLFS) and the Framingham Offspring Study (FOS). bioRxiv. 2024.                      doi:10.1101/2024.05.16.594575

  • Listwan TA, Krinsky-McHale SJ, Kovacs C, Lee JH, Pang DI, Schupf N, Zigman WB, Silverman W.  Prodromal Alzheimer’s Disease Can Affect Activities of Daily Living for Adults with Down Syndrome.  Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring. 2024; 16(1):E12562. doi: 10.1002/dad2.12562 PMID:38476636 PMCID: PMC10927922   

  • Schworer EK, Handen BL, Petersen M, O’Bryant S, Peven JC, Tudorascu DL, Lee L, Krinsky-McHale SJ, Hom C, Clare I, Christian BT, Schupf N, Lee JH, Head E, Mapstone M, Lott I, Ances B, Zaman S, Brickman AM, Lai F, Rosas HD, Hartley SL, and the Alzheimer's Biomarker Consortium-Down Syndrome. Cognitive and functional performance and plasma biomarkers of early Alzheimer's disease in Down syndrome. Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring. 2024; 16(2):E12582. doi:10.1002/dad2.12582 PMID:38623384 PMCID: PMC11016818

  • Luchsinger JA, Pang D, Krinsky-McHale J, Schupf N, Lee JH, Silverman W, Zigman WB. Obesity, diabetes and their metabolic correlates in middle-aged adults with Down Syndrome. Journal of Intellectual Disability Research. Mar 2024; 68(3):212-222. doi: 10:1111/JIR.13103. PMID: 37899501 PMCID: PMC10872834

2023

  • Fleming V, Helsel B, Ptomey L, Rosas HR, Handen B, Laymon C, Christian B, Head E, Mapstone M, Lai F, Krinsky-McHale S, Zaman S, Ances B, Lee JH, Hartley S.  Weight Loss and Alzheimer’s Disease in Down Syndrome.  Journal of Alzheimer’s Disease. Jan 2023; 91(3):1215-122. doi: 10.3233/JAD-220865. PMID: 36565120; PMID: PMC9940268

  • Leschyk A, Xiang Q, Andersen S, Gurinovich A, Song Z, Lee JH, Christensen K, Yashin A, Wojczynski M, Schwander K, Perls T, Monti S, Sebastiani P. Mosaic chromosomal alterations and human longevity. Journal of Gerontology: Biological Sciences. 2023; 78(9): 1561-1568. doi: 10.1093/gerona/glad095. PMID: 36988570

  • Chen J, Soni RK, Xu Y, Simoes S, Liang F-X, DeFreitas L, Hwang R, Montesinos J, Lee JH, Area-Gomez E, Nandakumar R, Vardarajan B, Marquer C(Chen, Soni et al. 2023). Juvenile CLN3 disease is a lysosomal cholesterol storage disorder:  Similarities with Niemann-Pick type C disease. eBioMedicine. 2023;92: 104628-104646. doi: 10.1016/j.ebiom.2023.104628. PMID: 37245481; PMCID: PMC10227369

  • Silverman W, Krinsky-McHale S, Kovacs C, Lee JH, Listwan T, Pang DI, Zigman WB, Schupf N.  Individualized estimated years from onset (EYO) of Alzheimer’s-related decline for adults with Down syndrome. Alzheimer’s and Dementia. 2023;15(2):12444-12453. doi: 10.1002/dad2.12444. PMID: 37389223; PMCID: PMC10300244

  • Maestre G, Carrillo M, Kalaria R, Acosta D, Adams L, Adoukonou T, Akinwande K, Akinyemi J, Akinyemi R, Akpa O, Alladi S, Allergi R, Arizaga R, Arshad F, Arulogun O, Babalola D, Baiyewu O, Bak T, Bellaj T, Boshe J, Brayne C, Brodie-Mends D, Brown R, Cahn J, Cyrille N, Damasceno A, de Silva R, Dijibuti M, Dreyer AJ, Ellajosyula R, Farombi T, Fongang B, Forner S, Friedland R, Garza N, Gbessemehlan A, Georgiou E, Goudier R, Govia I, Grinberg L, Guerchet M, Gugssa S, Gumikiriza-Onoria JL, Gustafson D, Hogervorst E, Hornberger M, Ibanez A, Ihara M, Ismail O, Issac T, Jonsson L, Kaputu C, Karanja W, Karungi J, Tshala-Katumbay D, Kunkle B, Lee JH, Leroi I, Lewis R, Livingston G, Lopera F, Lwere K, Manes F, Mbakile-Mahlanza L, Mena P, Miller B, Millogo A, Mohamed A, Musyimi C, Mutiso V, Nakasujja N, Ndetei D, Nightingale S, Njamnsh AK, Novotni G, Nyamayaro P, Nyame S. Ogeng’o J, Ogunniyi A, Okada De Oliveira M, Okubadejo N, Orrell M, Orunmuyi A, Owolabi M, Paddick S, Pericack-Vance MA, Pirtosek Z, Potocnik F, Preston B, Raman R, Ranchod K, Rizig M, Rosselli M, Deepa R, Roy U, Salokhiddinov M, Sano M, Sarfo F, Satizabal CL, Sepulveda-Falla d, Seshadri S, Sexton C, Skoog I, St George-Hyslop P, Suemoto C, Tanner J, Thapa P, Toure K, Ucheagwu V, Udeh-Momoh C, Valcour V, Vance J, Varghese M, Vera J, Walker R, Weidner W, Sebastian W, Whitehead Gay P, Zetterberg H, Zewde Y, The African Dementia Consortium  The Nairobi Declaration—Reducing the burden of dementia in low- and middle-income countries (LMICs):  Declaration of the 2022 Symposium on Dementia and Brain Aging in LMICs. Alzheimer’s and Dementia. 2023;19:1105-1108. doi:10.1002/alz.13025. PMID: 36905253

  • Boerwinkle AH, Gordon BA, Wisch J, Flores S, Henson RL, Butt OH, Chen CD, Benzinger TLS, Fagan AM, Handen BL, Christian BT, Head E, Mapstone M, Klunk WE, Rafii MS, O’Bryant S, Price JC, Schupf N, Laymon CM, Krinsky-McHale SJ, Lai F, Rosas D, Hartley SL, Zaman SH, Lott IT, Silverman W, Brickman AM, Lee JH, Allegri RF, Berman SB, Chhatwal JP, Chui HC, Cruchaga C, Farlow  MR, Fox NC, Goate AM, Day GS, Graff-Radford NR, Jucker M, Lee JH, Levin J, Martins RN, Mori H,  Perrin RJ, Salloway S, Schofield PR, Xiong C, Karch CM, Hassenstab J, McDade E, Bateman RJ, Ances BM on behalf of the Alzheimer’s Biomarker Consortium-Down Syndrome and the Dominantly Inherited Alzheimer Network.  Comparison of amyloid burden in individual with Down Syndrome versus autosomal dominant Alzheimer’s Disease:  A cross-sectional study. Lancet Neurology. 2023;22(1):55-65. doi:10.1016/S1474-4422(22)00408-2. PMID: 36517172; PMCID: PMC9979840   

  • Zhalbinova MR, Rakhimova SE, Kozhamkulov UA, Akilzhanova GA, Chinybayeva AA, Akilzhanov KR, Shaimardanov NK, Kuanysheva AG, Lee JH, Kairov U, Bekbossynova MS, Akilzhanova A. Role of genetic polymorphisms in the development of the complications in patients with implanted left ventricular assist device.  Journal of Clinical Medicine. 2023; 12(23):7235. doi: 10.3390/jcm12237235. PMID: 38068287 PMCID: PMC10707476  

ā€‹2022

  • Barral S, Andersen SL, Perls TT, Bae H, Sebastiani P, Christensen K, Thyagarajan B, Lee JH, Schupf N. Association between late maternal age and age-related endophenotypes in the Long Life Family Study. Neuroscience Letters. doi:10.1016/j.neulet.2022.136737.; PMID: 35709880; PMCID: PMC11061875

  • Kairov U, Molkenov A Rakhimova S, Kozhamkulov U, Sharip A, Karabayev D, Daniyarov A, Lee JH, Terwilliger JD, Akilzhanova A, Zhumadilov Z.  Whole-genome sequencing data of Kazakh individuals. Frontiers in Genetics. 2022;13:1-9. doi: 10.3389/fgene.2022.902804. PMID:35899193; PMCID: PMC9309552

  • Lao PJ, Zimmerman ME, Hartley S, Gutierrez J, Keator D, Igwe KC, Laing KK, Cotton-Samuel D, Sathishkumar M, Moni F, Andrews H, Krinsky-McHale, Head E, Lee JH, Lai F, Yassa MA, Rosas HD, Silverman W, Lott IT, Schupf N, Brickman AM. Obstructive sleep apnea, cerebrovascular disease, and amyloid in older adults with Down syndrome across the Alzheimer’s continuum. Sleep Advances. 2022;3(1):1-12. doi: 10.1093/sleepadvances/zpac013. PMID: 35669316; PMCID: PMC9154738

  • Melgarejo JD, Maestre GE, Gutierrez J, Thijs L, Mena LJ, Gaona C, Reinier L, Lee JH, Chávez CA, Calmon G, Silva E, Wei D-M, Terwilliger JD, Vanassche T, Janssens S, Verhamme P, Bos D, Zhang Z-Y.  Subclinical Magnetic Resonance Imaging Markers of Cerebral Small Vessel Diseases in Relation to Ambulatory Blood Pressure Indexes. Frontiers in Neurology. 2022;13:908260. doi: 10.3389/fneur.2022.908260. PMID: 35911921; PMCID: PMC9330602

  • Moni F*, Petersen ME*, Zhang F, Lao PJ, Zimmerman ME, Gu Y, Gutierrez J, Rizvi B, Laing KK, Igwe KC, Sathishkumar M, Keator D, Andrews H, Krinskyā€McHale S, Head E, Lee JH, Lai F, Yassa MA, Rosas HD, Silverman W, Lott IT, Schupf N, O’Bryant S, Brickman AM. Probing the proteome to explore potential mediators of increased Alzheimer’s-related cerebrovascular disease in adults with Down syndrome. Alzheimer's & Dementia: The Journal of the Alzheimer's Association. 2022;18(10):1744-1753. doi: 10.1002/alz.12627. PMID: 35212182; PMCID: PMC9399305

  • Sarin HV, Hulmi JJ, Qin Y, Inouye M, Ritchie S, Cheng S, Lee JH, Jin Z, Terwilliger JD, Niiranen T, Salomaa V, Havulinna A, Pietiläinen KH, Isola V, Ahtiainen JP, Häkkinen K, Jain M, Perola M.  Substantial Fat Loss in Physique Competitors Is Charaterized by Increased Levels of Bile Acids, Very-Long Chain Faty Acids, and Oxylipins. Metabolites. 2022;12(10):928. doi:10.3390/metabo12100928. PMID:36295830 PMCID:PMC9609491

  • Katz R, Gay EL, Kuipers AL, Lee JH, Honig LS, Christensen K, Feitosa MF, Wojczynski MK, Glynn NW.  Association of Leukocyte Telomere Length with Perceived Physical Fatigability. Experimental Gerontology. 2022 Dec; 170:111988. doi: 10.1016/j.exger.2022.111988. PMID: 36302456

  • Hwang R, Dang LH, Chen J, Lee JH, Marquer C. Triplication of Synaptojanin 1 in Alzheimer’s Disease Pathology in Down Syndrome. Current Alzheimer Research. 2022 Dec;19(12):795-807. doi: 10.2174/1567205020666221202102832. PMID: 36464875

  • Wojczynski MK, Lin SJ, Sebastiani P, Perls TT, Lee JH, Kulminski A, Zmuda JM, Christensen K, Province MA.  NIA Long Life Family Study: Objectives, Design, and Heritability of Cross Sectional and Longitudinal Phenotypes. Journal of Gerontology: Biological Sciences. 2022; 77(4):717-727. doi:10.1093/gerona/glab333. PMID: 34739053; PMCID: PMC8974329

  • Gao Y, Felsky D, Reyes-Dumeyer D, Sariya S, Rentería M, A, Tosto G, Vardarajan B, Ma Y, Klein H-U, Rajan K-B, Evans DA, Saykin AJ, Cosentino S, Lee JH, De Jager PL, Schupf N, Schellenberg GD, Mayeux R, Barral S on behalf of CHAP, UKBB, ADNI, ROSMAP, LLFS, WHICAP, NIA-LOAD, and ADGC.  Integration of GWAS and brain transcriptomic analyses in a multi-ethnic sample of 35,349 older adults identifies DCDC2 gene as predictor of episodic memory maintenance.  Alzheimer’s and Dementia. 2022 Oct;18(10):1797-1811. doi:10.1002/alz.12524. PMID: 34873813; PMCID: PMC9170841

  • Melgarejo JD, Eijgen JV, Maestre GE, Al-Aswad LA, Thijs L, Mena LJ, Lee JH, Terwilliger JD, Petitto M, Chávez CA, Calmon G, Silva E, Wei D-M, Cutsforth E, Keer KV, De Moraes CG, Vanassche T, Janssens S, Stalmans I, Verhamme P, Staessen JA, Zhang Z-Y.  Open-Angle Glaucomatous Optic Neuropathy Is Relation to Dips Rather Than Increases in the Mean Arterial Pressure Over 24-H.  American Journal of Hypertension. 2022;35(8):703-714. DOI:10.1093/ajh/hpac028. PMID:35218651; PMCID: PMC9340631

2021ā€‹

  • Mhatre PG, Lee JH, Pang D, Zigman WB, Tycko B, Krinsky-McHale S, Yuchen Yang, Silverman W, Schupf N. The Association between sex and risk of Dementia in Adults with Down Syndrome. The Journal of Clinical Medicine, 2021;10(13): 2966. doi:10.3390/jcm10132966. PMID: 34279450; PMCID:PMC8268850

  • Maestre GE, Pirela RV, Paz CL, Melgarejo JD, Mena LJ, Chavez CA, Leendertz R, Petitto M, Silva E, Calmon GE, Al-Aswad L, Lee JH, Terwilliger JD. Research on Aging during the Venezuelan Humanitarian Crisis: The Experience of the Maracaibo Aging Study.  BMC Public Health. 2021;21(473). doi: 10.1186/s12889-021-10526-0. PMID: 33750362; PMCID: PMC7941117

  • Al-Aswad LA, Elgin CY, Patel V, Popplewell D, Gopal K, Gong D, Thomas Z, Joiner D, Chu C-K, Walters S, Ramachandran M, Kapoor R, Rodriguez M, Alcantara-Castillo J, Maestre GE, Lee JH, Moazami G. Real-Time Mobile Teleophthalmology for the detection of eye disease in minorities and low socioeconomics At-Risk Populations. Asia-Pacific Journal of Ophthalmology. 2021; 10(5): 461-472. doi:10.1097/APO.0000000000000416. PMID: 34582428; PMCID: PMC8794049

  • Guelly E, Abilova Z, Nuralinov O, Panzitt K, Akhmetova A, Rakhimova S, Kozhamkulov U, Kairov U, Molkenov A, Seisenova A, Trajanoski S, Rashbayeva G, Kaussova G, Windpassinger C, Lee JH, Zhumadilov Z, Bekbossynova M, Akilzhanova A.  Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes. PeerJ. 2021;9: e10711. doi: 10.7717/peerj.10711. PMID:33552729; PMID: PMC7821765

  • Castro F, Melgarejo J, Chavez CA, de Erausquin GA, Terwilliger JD, Lee JH, Maestre GE. Total Plasma Homocysteine and Depressive Symptoms in Older Hispanics.  Journal of Alzheimer’s Disease.  2021;82(s1):S263-S269. doi:10.3233/JAD-201062. PMID: 33579837; PMCID: PMC8300858

  • Fagan AM, Henson RL, Li Y, Boerwinkle AH, Xiong C, Bateman RJ, Goate A, Ances BM, Doran E, Christian BT, Lai F, Rosas HD, Schupf N, Silverman W, Lee JH, Klunk WE, Handen BL, Allegri RF, Chhatwal JP, Day GS, Graff-Radford NR, Jucker M, Levin J, Martins RN, Masters CL, Mori H, Mummery CJ, Niimi Y, Ringman JM, Salloway S, Schofield P, Soji M, Lott IT.  Comparison of CSF biomarkers in Down syndrome and autosomal dominant Alzheimer’s disease. Lancet Neurology. 2021; 20(8); 615-626. doi: 10.1016/S1474-4422(21)00139-3. PMID: 34302786; PMCID:PMC8496347

  • Feitosa M, Kuipers AL, Wojczynski MK, Wang L, Barinas-Mitchell E, Kulminski AM, Thyagarajan B, Lee JH, Perls T, Christensen K, Newman AB, Zmuda JM, Province MA.  Heterogeneity of the predictive accuracy of polygenic risk for coronary artery disease by disease ascertainment. Circulation: Genomic and Precision Medicine. 2021;12(3):e003201. doi: 10.1161/CIRCGEN.120.003201. PMID: 33844929; PMCID: PMC8214825

  • Petersen ME, Rafii MS, Zhang F, Hall J, Julovich D, Ances BM, Schupf N, Krinsky-McHale SJ, Mapstone M, Silverman W, Lott I, Klunk W, Head E, Christian B, Foroud T, Lai F, Rosas HD, Zaman S, Wang M-C, Tycko B, Lee J, Handen B, Hartley S, Fortea J, O’Bryant SE for the Alzheimer’s Biomarker Consortium – Down Syndrome (ABC-DS). Plasma total-tau and Neurofilament light chain (Nf-L) as diagnostic biomarkers of Alzheimer’s disease dementia and mild cognitive impairment in adults with Down syndrome. Journal of Alzheimer’s Disease. 2021;79(2):671-681. doi: 10.3233/JAD-201167.  PMID: 33337378; PMCID: 8273927

2020

  • Ashrafi A, Cosentino S, Kang MS, Lee JH, Schupf N, Andersen SL, Christensen K, Province MA, Thyagarajan B, Zmuda JM, Honig LS.  Leukocyte Telomere Length is Unrelate to Cognitive Performance among Non-demented Persons: An Examination of Long Life Family Study Participants. Journal of the International Neuropsychological Society. 2020;28:1-12. doi: 10.1017/S1355617720000363. PMID: 32342830; PMCID: PMC7983066

  • Arbeev KG, Bagley O, Ukraintseva SV, Wu D, Duan H, Kulminski AM, Stallard E, Christensen K, Lee JH, Thyagarajan B, Zmuda JM, Yashin AI.  Genetics of physiological dysregulation:  Findings from the Long Life Family Study using joint models. Aging. 2020; 12:5920-5947. doi: 10.18632/aging.102987. PMID: 32235003; PMCID: PMC7185144

  • Carlson P, Wojczynski MK, Druley T, Lee JH, Zmuda JM, Thyagarajan B.  Prevalence of Clinically Actionable Disease Variants in Exceptionally Long-Lived Families. BMC Medical Genomics, 2020;13(61):1-7. doi: 10.1186/s12920-020-0710-5. PMID:32272925; PMCID: PMC7146901

  • Petersen M, Zhang F, Schupf N, Krinsky-McHale S, Hall J, Mapstone M, Cheema A, Silverman W, Lott I, Rafii M, Handen B, Klunk W, Head E, Christian B, Foroud T, Lai F, Rosas, DH, Zaman S, Ances B, Wang M-C, Tycko B, Lee JH, O’Bryant S, the Alzheimer’s Biomarker Consortium-Down syndrome (ABC-DS). Proteomic Profiles of Alzheimer’s Disease and Mild Cognitive Impairment among Adults with Down Syndrome spanning serum and plasma:  An ABC_DS Study. Alzheimer’s & Dementia Journal: Diagnosis, Assessment & Disease Monitoring. 2020;12(1):e12039. doi: 10.1002/dad2.12039; PMID: 32626817;  PMCID: PMC7327223.

  • Henson RL, Doran E, Christian BT, Handen BL, Klunk WE, Lai F, Lee JH, Rosas HD, Schupf N, Zaman SH, Lott IT, Fagan AM. Cerebrospinal Fluid Biomarkers of Alzheimer Disease in a cohort of adults with Down Syndrome.  Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring. 2020 Jul 9;12(1):e12057; doi: 10.1002/dad2.12057 PMID: 32671183; PMCID: PMC7346867

  • Krinsky-McHale SJ, Zigman WB, Lee JH, Schupf N, Pang D, Listwan T, Kovacs C, Silverman W. Promising outcome measures of early Alzheimer’s Diementia in adults with Down syndrome.  Alzheimer’s & Dementia:  The Journal of the Alzheimer’s Association. 2020. doi: 10.1002/dad2.12044; PMID: 32647741; PMCID: PMC7335903.  

  • Handen BL, Lott IT, Christian B, Schupf N, Klunk W, Silverman W; O’Bryant S, Mapstone M, Fagan AM, Lee JH, Tudorascu D, Wang M-C, Head E, Lai F, Krinsky-McHale S, Rosas HD, Hartley S, Ances B, the Alzheimer’s Disease in Down Syndrome (ADDS) Consortium.  The Alzheimer Biomarker Consortium-Down Syndrome (ABC-DS) Rationale and Methodology. Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring. 2020 Aug 3;12(1):e12065. doi: 10.1002/dad2.12065; PMID: 32775597; PMCID: PMC7396809 

  • Melgarejo JD, Aguirre-Acevedo DC, Gaona C, Chavez C, Pirela R, De Eurasquin G, Mena L, Terwilliger JD, Arboleda H, Lee JH, Maestre GE. Nighttime Blood Pressure Interacts with ApoE Genotypes to Increase the Risk of Incident Dementia of the Alzheimer’s Type in Hispanics. Journal of Alzheimer’s Disease. 2020;77(2):569-579. doi:10.3233/JAD-200430; PMID: 32675415; PMCID: PMC7577347

  • Lao PJ, Gutierrez J, Keator D, Banerjee A, Igwe KC, Laing KK, Rizvi B, Sathishkumar M, Moni F, Andrews H, Krinsky-McHale S, Head E, Lee JH, Lai F, Yassa MA, Rosas HD, Silverman W, Lott IT, Schupf N, Brickman AM. Alzheimer’s-related cerebrovascular disease in Down syndrome. Annals of Neurology. 2020; 88(6):1165-1177. doi: 10.1002/ana.25905. PMID: 32944999; PMCID: PMC7729262.

  • Chesebro AG, Melgarejo JD, Leendertz R, Igwe KC, Lao PJ, Laing KK, Rizvi B, Budge M, Meier IB, Calmon G, Lee JH, Maestre GE, Brickman AM.  White matter hyperintensities mediate the association between nocturnal blood pressure dipping and hypertension and cognition. Neurology. 2020; 94(17): e1803-e1810. doi: 10.1212/WNL.0000000000009316. PMID: 32295824 PMCID: PMC7274843

2019

  • Sarin HV, Lee JH, Jauhiainen M, Joensuu A, Borodulin K, Männistö S, Jin Z, Terwilliger JD, Isola V, Ahtiainen JP, Häkkinen K, Hulmi J, Kristiansson K, Hulmi JJ, Perola M.  Substantial fat mass loss reduces low-grade inflammation and induces positive alteration in cardiometabolic factors in normal-weight individuals. Scientific Reports 2019;9(1):3450-3463. doi:10.1038/s41598-019-40107-6. PMID: 30837600; PMCID: PMC6400952

  • Sarin HV, Gudelj I, Honkanen J, Ihalainen JK, Salo P, Vuorela A, Lee JH, Jin Z, Terwilliger JD, Isola V, Ahtiainen JP, Häkkinen K, Jurić J, Lauc G, Kristiansson K, Hulmi JJ, Perola M. Molecular pathways mediating immunosuppression in response to prolonged intensive physical training, low-energy availability, and intensive weight loss. Frontiers in Immunology 10:907. doi: 10.3389/fimmu.2019.00907.  PMID:31134054; PMCID:6511813

  • Sariya S, Lee JH, Mayeux R, Vardarajan BN, Reyes-Dumeyer D, Manly J, Brickman A, Lantigua R, Medrano M, Jimenez-Velazquez IJ, Tosto G.  Rare variants imputation in admixed populations: Comparison across reference panels and bioinformatics tools. Frontiers in Genetics 2019; 10:239. doi: 10.3389/fgene.2019.00239. PMID: 31001313 PMCID: PMC6456789

  • Cohen AD, Head E, Lee JH. Alzheimer’s Diseases in Aging Down Syndrome. Developmental Biology 2019; 79(7):611-612. doi:10.1002/dneu.22717. PMID: 31545018

  • Marron MM, Miljkovic I, Boudreau RM, Christensen K, Feitosa MF, Lee JH, Sebastiani P, Thyagarajan B, Wojczynski MK, Zmuda JM, Newman AB, Long Life Family S. A novel healthy metabolic phenotype developed among a cohort of families enriched for longevity. Metabolism 2019; 94:28-38. doi: 10.1016/j.metabol.2019.01.010. PMID: 30710575; PMCID: PMC7099575

  • Kraja AT, et al. Associations of Mitochondrial and Nuclear Mitochondrial Variants/Genes with Seven Metabolic Traits. American Journal of Human Genetics 2019;104(1):112-38. doi: 10.1016/j.ajhg.2018.12.001. PMID: 30595373; PMCID: PMC6323610.

  • de Vries PS, et al. Multi-ancestry genome-wide association study incorporating gene-alcohol interactions. American Journal of Epidemiology 2019;188(6):1033-1054. doi: 10.1093/aje/kwz005. PMID: 30698716; PMCID: PMC6545280

  • Sung YJ, et al. A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure. Human Molecular Genetics 2019; 28(15): 2615–2633. doi: 10.1093/hmg/ddz070; PMID: 31127295 PMCID: PMC6644157

  • Gill R, Stratigopoulos G, Lee JH, Leibel RL. Functional Genomic Characterization of the Fat Mass and Obesity-Associated (FTO) Locus in African Americans. Physiological Genomics 51: 517–528, 2019. doi: 10.1152/physiolgenomics.00057.2019. PMID: 31530225 PMCID: PMC6879815

  • Kuipers AL, Wojczynski MK, Barinas-Mitchell E, Minster RL, Wang L, Feitosa MF, Kulminski A, Thyagarajan B,Lee JH, Province MA, Newman AB, Zmuda JM for the Long-Life Family Study.  Genome-wide Linkage Analysis of Carotid Artery Traits in Exceptionally Long-Lived Families. Atherosclerosis 2019 291:19-26. doi: 10.1016/j.atherosclerosis.2019.10.008. PMID: 31634740 PMCID: PMC6899182 

  • Melgarejo JD, Lee JH, Maestre GE, de Moraes G. Reply to: Melgarejo et al.: Glaucomatous optic neuropathy associated with nocturnal dip in blood pressure: findings from Maracaibo Aging Study (Ophthalmology 2018;125:807-814). Ophthalmology 2019;126(2):e12-e13. doi: 10.1016/j.ophtha.2018.08.027.  PMID: 30683182

  • Ji A, Pan C, Wang H, Jin Z, Lee JH, Wu Q, Jiang Q, Cui L. Prevalence and Associated Risk Factors of Chronic Kidney Disease in an Elderly Population from Eastern China. International Journal of Environmental Research and Public Health 2019; 16: 4383. doi:10.3390/ijerph16224383. PMID: 31717585 PMCID: PMC6888049

  • Kettunen J, Joensuu A, Hagnäs M, Mikkola I, Wennerstöm A, Lee JH, Terwilliger JD, Borodulin K, Jousilahti P, Jauhiainen M, Jokelainen JJ, Keinänen-Kiukaanniemi S, Perola M.  Associations of increased physical performance and change in body composition with metabolic pathways of heart disease and diabetes risk. American Journal of Physiology-Endocrinology and Metabolism 2019;316(2):E221-E9. doi: 10.1152/ajpendo.00260.2018. PMID: 30422703

2021
2020
2019
2022
2023

2018ā€‹

  • Dang L-H, Pang D, Kisselev S, Krinsky-McHale S, Zigman WB, Luchsinger JA, Silverman W, Tycko B, Clark LN, Schupf N, Lee JH.  Polymorphisms in RUNX1, S100β, TNK1, and CST3 contribute to the variation in age at onset of Alzheimer disease in adults with Down syndrome. Neurobiology of Aging. (accepted)

  • Miranda AM, Herman M, Cheng R, Nahmani E, Barrett G, Micevska E, Fontaine G, Potier MC, Head E, Schmitt FA, Lott IT, Jimenez-Velazquez IZ, Antonarakis SE, Di Paolo G, Lee JH, Hussaini SA, Marquer C. Excess Synaptojanin 1 Contributes to Place Cell Dysfunction and Memory Deficits in the Aging Hippocampus in Three Types of Alzheimer's Disease. Cell Reports. 2018;23(10):2967-75. doi: 10.1016/j.celrep.2018.05.011. PMID: 29874583; PMCID: PMC6040810.

  • Yao Y, Jin Z, Lee JH. An improved statistical model for taxonomic assignment of metagenomics. BMC Genetics. 2018;19(1):98. doi: 10.1186/s12863-018-0680-1. PMID: 30373533; PMCID: PMC6206629.

  • Cheng R, Tang M, Martinez I, Ayodele T, Baez P, Reyes-Dumeyer D, Lantigua R, Medrano M, Jimenez-Velazquez I, Lee JH, Beecham GW, Reitz C. Linkage analysis of multiplex Caribbean Hispanic families loaded for unexplained early-onset cases identifies novel Alzheimer’s disease loci. Journal of Alzheimer’s and Dementia(Amst) 2018;10:554-62. doi: 10.1016/j.dadm.2018.07.007. PMID: 30406174; PMCID: PMC6215058.

  • Piriz A, Reyes D, Narkhede A, Guzman VA, Viqar F, Meier IB, Budge M, Mena P, Dashnaw S, Lee J, Reitz C, Gutierrez J, Campos L, Medrano M, Lantigua R, Mayeux R, Brickman AM. Cerebrovascular Disease and Neurodegeneration in Alzheimer's Disease with and without a Strong Family History: A Pilot Magnetic Resonance Imaging Study in the Dominican Republic. Journal of Alzheimer’s Disease 2018;66(4):1519-28. doi: 10.3233/JAD-180807. PMID: 30412503; PMCID: PMC6506181

  • Zhang C, Quan Z, Wu Q, Jin Z, Lee JH, Li C, Cui L.  Association between atmospheric particulate pollutants and mortality from cardio-cerebrovascular diseases in a Chinese Korean population:  A case cross-over study.  International Journal of Environmental Research and Public Health 2018;15(12). doi: 10.3390/ijerph15122835. PMID: 30545115; PMCID: PMC6313322

  • Méndez AS, Melgarejo JD, Chávez CA, González AC, Terwilliger JD, Lee JH, Maestre GE. Risk factors for orthostatic hypotension:  Differences between men and women.  American Journal of Hypertension 2018;31(7):797-803. doi: 10.1093/ajh/hpy050. PMID: 29617895; PMCID: : PMC7190879

  • Maestre GE, Mena LJ, Melgarejo JD, Pino-Ramirez G, Urribarri M, Chacon IJ, Chavez CA, Falque-Madrid L, Terwilliger JD, Lee JH, Scarmeas N.  Incidence of dementia in elderly Latin Americans:  Results of the Maracaibo Aging Study.  Alzheimer’s & Dementia 2018;14(2):140-7. doi: 10.1016/j.jalz.2017.06.2636 PMID: 28943198; PMCID: PMC5803319

  • Melgarejo Arias JD, Lee JH, Petito M, Yepez J, Murati FA, Jin Z, Chavez CA, Pirela RV, Calmon G, Lee W, Johnson MP, Mena LJ, Al-Aswad L, Terwilliger JD, Allikmets R, Maestre GE, De Moraes CG. Glaucomatous Optic Neuropathy Associated with Nocturnal Dip in Blood Pressure: Findings from the Maracaibo Aging Study. Ophthalmology 2018;125(6):807-14. doi: 10.1016/j.ophtha.2017.11.029. PMID:29310962; PMCID: PMC5963964.

 

2017

  • Lee JH, Lee AJ, Dang L-H, Pang D, Kisselev S, Krinsky-McHale S, Zigman W, Luchsinger JA, Silverman W, Tycko B, Clark LN, Schupf N.  Candidate genes for dementia contribute to risk of Alzheimer disease in adults with Down syndrome. Neurobiology of Aging.2017;56:150-158 doi:10.1016/j.neurobiolaging.2017.04.01. PMID: 28554490; PMCID: PMC5603247

  • Vardarajan BN, Tosto G, Lefort R, Yu L, Bennett DA, De Jager PL, Barral S, Reyes-Dumeyer D, Nagy P, Lee JH, Cheng R, Medrano M, Lantigua RA, Rogaeva E, St. George-Hyslop P, Mayeux R. Ultra-Rare Mutations in SRCAP segregate in Caribbean Hispanic families with Alzheimer’s disease. Neurology: Genetics 2017; 3(5):e178. doi: 10.1212/NXG.0000000000000178. PMID:28852706; PMCID: PMC5570674

  • Eguchi K, Honig LS, Lee JH, Hoshide S, Kario K. Short telomere length is associated with renal impairment in Japanese subjects with cardiovascular risk. PLoS One. 2017;12(4):e0176138. doi: 10.1371/journal.pone.0176138. PMID: 28441430; PMCID: PMC5404870.

 

2016

  • Druley TE, Wang L, Lin SJ, Lee JH, Zhang Q, Daw EW, Abel HJ, Chasnoff SE, Ramos EI, Levinson BT, Thyagarajan B, Newman AB, Christensen K, Mayeux R, Province MA. Candidate gene resequencing to identify rare, pedigree-specific variants influencing healthy aging phenotypes in the long life family study. BMC Geriatriatrics. 2016;16:80. doi: 10.1186/s12877-016-0253-y. PMID: 27060904; PMCID: PMC4826550

  • Fagan E, Sun F, Bae H, Elo I, Andersen SL, Lee J, Christensen K, Thyagarajan B, Sebastiani P, Perls T, Honig LS, Schupf N, Long Life Family S. Telomere length is longer in women with late maternal age. Menopause. 2017;24(5):497-501. doi: 10.1097/GME.0000000000000795. PMID: 27922939; PMCID: PMC5403597

 

2015

  • Lee JH†, Cheng R†, Vardarajan B, Lantigua R, Reyes-Dumeyer D, Ortmann W, Graham R, Bhangale T, Behrens T, Medrano M, Jimenez-Velazquez IZ, Mayeux R.  Genetic modifiers of age at onset in carriers of the G206A mutation in PSEN1 with familial Alzheimer disease in Caribbean Hispanics. JAMA Neurology. 2015;72(9):1043-51. doi: 10.1001/jamaneurol.2015.1424. PMID: 26214276 PMCID: PMC5010776

  • Vardarajan BN†, Zhang Y†, Lee JH†, Cheng R, Bohm C, Ghani M, Reitz C, Reyes-Dumeyer D, Shen Y, Rogaeva E, St George-Hyslop P, Mayeux R. Coding mutations in SORL1 and Alzheimer disease. Annals of Neurolology. 2015;77(2):215-27. doi: 10.1002/ana.24305. PMID: 25382023; PMCID: PMC4367199

  • Vardarajan BN, Schaid D, Reitz C, Lantigua R, Medrano M, Jiménez-Velázquez IZ, Lee JH, Ghani M, Rogaeva E, St George-Hyslop P, Mayeux R. Inbreeding among Caribbean Hispanics from the Dominican Republic and the effects on the risk of Alzheimer’s Disease. Genetics in Medicine 2015;17(8):639-43. doi: 10.1038/gim.2014.161. PMID: 25394174; PMCID: PMC4430451

  • Ghani M, Reitz C, Cheng R, Vardarajan BN, Jun G, Sato C, Naj A, Rajbhandary R, Wang L-S, Valladares O, Lin C-F, Larson EB, MD, MPH, Graff-Radford NR, Evans E, De Jager PI, Crane PK, Buxbaum JD, Murrell JR, Raj T, Ertekin-Taner N, Logue M, Baldwin CT, Green RC, Barnes LL, Cantwell LB, Fallin MD, Go RCP, Griffith P, Obisesan TO, Manly JJ, Lunetta KL, Kamboh MI, Lopez OL, Bennett DA, Hendrie H, Hall KS, Goate AM, Byrd GS, Kukull WA, Foroud TM, Haines JL, Farrer LA, Pericak-Vance MA, Lee JH, Schellenberg GD, St George-Hyslop P, Mayeux R, Rogaeva E and the Alzheimer Disease Genetics Consortium.  Association of long runs of homozygosity with Alzheimer Disease among African Americans. JAMA Neurology. 2015;72(11):1313-23. doi: 10.1001/jamaneurol.2015.1700. PMID: 26366463; PMCID: PMC4641052 

  • Vardarajan BN, Ghani M, Kahn A, Sheikh S, Sato C, Barral SM, Lee JH, Cheng R, Reitz C, Lantigua R, Reyes-Dumeyer D, Medrano M, Jimenez-Velazquez IZ, Rogaeva E, St.George-Hyslop P, Mayeux R.  Rare coding mutations identified by targeted sequencing of Alzheimer's disease loci detected in genome-wide association studies. Annals of Neurology 2015;78(3):487-98. doi: 10.1002/ana.24466. PMID: 26101835; PMCID: PMC4546546

  • Tosto G, Fu H, Vardarajan B, Lee JH, Cheng R, Reyes-Dumeyer D, Lantigua R, Medrano M, Jimenez-Velazquez I, Elkind M, Wright C, Sacco R, Pericak-Vance M, Farrer L, Rogaeva E, St.George-Hyslop P, Reitz C, Mayeux R.  F-box/LRR-repeat protein 7 is genetically associated with late-onset Alzheimer’s disease. Annals of Clinical and Translational Neurology 2015;2(8):810-20. doi: 10.1002/acn3.223. PMID: 26339675 PMCID: PMC4554442

  • Barral S, Cheng R, Reitz C, Vardarajan B, Lee J, Kunkle B, Beecham G, Cantwell LS, Pericak-Vance MA, Farrer LA, Haines JL, Goate AM, Foroud T, Boerwinkle E, Schellenberg GD, Mayeux R. Linkage analyses in Caribbean Hispanic families identify novel loci associated with familial late-onset Alzheimer's disease. Alzheimer’s Dementia. 2015;11(12):1397-406. doi: 10.1016/j.jalz.2015.07.487. PMID: 26433351; PMCID: PMC4690771. 

  • Schupf N, Lee AJ, Park N, Dang L-H, Pang D, Yale A, Krinsky-McHale S, Jenkins E, Luchsinger J, Zigman W, Silverman W, Tycko B, Kisselev S, Clark LN, Lee JH.  Candidate genes for Alzheimer’s disease are associated with individual differences in plasma levels of beta amyloid peptides in adults with Down syndrome. Neurobiology of Aging 2015;36(10):2907.e1-10. doi: 10.1016/j.neurobiolaging.2015.06.020. PMID: 26166206 PMCID: PMC4562880

  • Clark LN, Chan RB, Cheng R, Liu X, Park N, Parmalee NL, Kisselev S, Cortes E, Torres P, Pastores GM, Vonsattel JP, Alcalay R, Marder K, Honig LS, Fahn S, Mayeux R, Shelanski M, Di Paolo G, Lee JH.  Gene-wise association of variants in four lysosomal storage disorder genes in neuropathologically confirmed Lewy Body Disease. PLoS One 2015;10(5):e0125204. doi: 10.1371/journal.pone.0125204. PMID: 25933391 PMCID: PMC4416714

  • Gu Y, Honig LS, Schupf N, Lee JH, Luchsinger JA, Stern Y, Scarmeas N.  Mediterranean diet and leukocyte telomere length in a multi-ethnic elderly population. Age 2015 Apr;37(2):9758. doi: 10.1007/s11357-015-9758-0. PMID: 25750063 PMICID: PMC4352412

  • Honig LS, Kang MS, Cheng R, Eckfeldt JH, Thyagarajan B, Leiendecker-Foster C, Province MA, Sanders J, Perls T, Christensen K, Lee JH, Mayeux RP, Schupf N.  Heritability of telomere length in a study of long-lived families. Neurobiology of Aging. 2015;36(10):2785-90. doi: 10.1016/j.neurobiolaging.2015.06.017. PMID: 26239175 PMCID: PMC4562863

  • Yan W, Li X, Wang Q, Huang Y, Cao F, Zhang W, Lee JH.  Overweight, high blood pressure and impaired fasting glucose in Uyghur, Han and Kazakh Chinese children and adolescents. Ethnicity and Health. 2015;20(4):365-75. doi: 10.1080/13557858.2014.921894. PMID: 24904957; PMCID: PMC4258184

 

2014

  • Lee JH, Kahn A, Cheng R, Reitz C, Vardarajan B, Lantigua R, Medrano M, Jiménez-Velázquez IZ, Williamson J, Nagy PL, Mayeux R.  Disease-related mutations among Caribbean Hispanics with familial dementia. Molecular Genetics and Genomic Medicine 2014;2(5):430-7. doi: 10.1002/mgg3.85.  PMID: 25333068; PMCID: PMC4190878.

  • Janicki SC, Park N, Cheng R, Schupf N, Clark LN, Lee JH. ERα variants affect age at onset of Alzheimer’s Disease in a multiethnic female cohort.  Dementia and Geriatric Cognitive Disorders.  2014;38(3-4):200-13. doi: 10.1159/000355559. PMID: 24732579; PMCID: PMC41410004

  • Janicki SC, Park N, Cheng R, Lee JH, Schupf N, Clark LN. Estrogen receptor β variants modify risk for Alzheimer’s Disease in multiethnic female cohort. Journal of Alzheimer’s Disease.  2014;40(1):83-93. doi: 10.3233/JAD-130551. PMID: 24326520 

  • Lee JH†, Cheng R†, Honig LS, Feitosa M, Kammerer C, Kang MS, Schupf N, Lin R, Sanders J, Bae H, Druley T, Perls T, Christensen K, Province M, Mayeux R. Genome wide association and linkage analyses indentified three loci.- 4q25, 17q23.2, and 10q11.21-associated with variation in leukocyte telomere length: the Long Life Family Study. Frontiers in Genetics of Aging. 2014;4:310. doi:10.3389/fgene.2013.00310. PMID: 24478790; PMCID: PMC3894567

  • Liu X†, Cheng R†, Verbitsky M, Kisselev S, Browne A, Mejia-Sanatana, H, Louis ED, Cote LJ, Andrews H, Waters C, Ford B, Frucht S, Fahn S, Marder K, Clark LN, Lee JH. Genome-wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population. BMC Medical Genetics. 2011;12:104. doi: 10.1186/1471-2350-12-104. PMID: 21812969; PMCID: PMC3166909 

  • Nalls MA, Pankratz N, Lill C, Do CB, Hernandez DG, Kara E, Bras J, Saad M, Schulte C, Keller M, Arepalli S, Letson C, Edsall C, Liu X, Pliner H, Lee JH, Cheng R, IPDGC, PSG-PROGENI, GenePD, NGRC, HIHG,  CHARGE, NABEC, UKBEC, GPDC, Hadjigeorgiou GM, Martinez M. Perlmutter JS, Goate A, Marder K, DeStefano A, Fiske B, Sutherland M, Xiromerisiou G, Myers RH, Clark LN, Hardy JA, Heutink P, Chen H, Wood NW, Houlden H, Payami H, Brice A, Scott WK, Gasser T, Bertram L, Eriksson N, Foroud T, Singleton AB.  Large scale meta-analysis of genome-wide association data in Parkinson’s Disease reveals 6 novel risk loci. Nature Genetics. 2014;46(9):989-93. doi: 10.1038/ng.3043. PMID: 25064009 PMCID: PMC4146673

  • An P, Miljkovic I, Thyagarajan B, Kraja AT, Daw W, Pankow JS, Selvin E, Kao WHL, Maruthur NM, Nalls MA, Liu Y, Harris TB, Lee JH, Borecki IB, Christensen K, Eckfeldt JH, Mayeux R, Perls TT, Newman AB, Province MA. Genome-wide association study identifies novel loci influencing circulating glycated hemoglobin (HbA1c) levels in non-diabetics: the Long Life Family Study (LLFS). Metabolism. 2014;63(4):461-8. doi: 10.1016/j.metabol.2013.11.018. PMID:24405752 PMCID: PMC3965585

  • Feitosa MF. Wojczynski MK, Straka R, Kammerer CM, Lee JH, Kraja AT, Christensen K, Newman AB, Province MA, Borecki IB. Genetic analysis of long-lived families reveals novel variants influencing high density-lipoprotein cholesterol. Frontiers in Genetics (Evolutionary and Population Genetics).  2014;5:159. doi: 10.3389/fgene.2014.00159. PMID: 24917880 PMCID: PMC4042684

 

2013

  • Sebastiani P, Sun J, Andersen S, Lee JH, Wojczynski M, Leak T, Zmuda J, Christensen K, Perls TT. Families enriched for exceptional longevity also have increased health span: Findings from the Long Life Family Study.  Frontiers in Epidemiology. 2013; 4:310. doi: 10.3389/fpubh.2013.00038. PMID: 24350207; PMCID: PMC3859985

  • Janicki SC, Park N, Cheng R, Schupf N, Clark LN, Lee JH.  Aromatase variants modify risk for Alzheimer’s Disease in a multiethnic female cohort.  Dementia and Geriatric Cognitive Disorders 2013;35:340-350. doi: 10.1159/000343074 PMID:23635391; PMCID:PMC4036496

  • Vardarajan B, Vergote D, Tissir F, Logue M, Yang J, Daude N, Ando K, Rogaeva E, Lee JH, Cheng R, Brion J-P, Ghani M, Shi B, Baldwin CT, Kar S, Mayeux R, Fraser P, Goffinet AM, St. George-Hyslop P, Farrer LA, Westaway D.  Role of p73 in Alzheimer disease: Lack of association in mouse models or in human cohorts.  Molecular Neurodegeneration 2013;8:10. doi: 10.1186/1750-1326-8-10.  PMID: 23414597; PMCID: PMC3614544

  • Devanand D, Lee J, Luchsinger J, Manly J, Marder K, Mayeux R, Scarmeas N, Schupf N, Stern Y. Lessons from epidemiologic research about risk factors, modifiers, and progression of late onset Alzheimer's Disease in New York City at Columbia University Medical Center. Journal of Alzheimer’s Disease 2013;33 Suppl 1:S447-55. doi: 10.3233/JAD-2012-129041. PMID: 22836187; PMCID: PMC4149254  

  • Ghani M, Sato C, Lee JH, Reitz C, Moreno D, Mayeux R, St George-Hyslop P, Rogaeva E.  Evidence of recessive Alzheimer’s disease loci in Caribbean Hispanics: Genome-wide survey of runs of homozygosity. JAMA Neurology 2015;72(11):1313-23. doi: 10.1001/jamaneurol.2013.3545ā€‹. PMID: 23978990; PMCID: PMC3991012

 

2012

  • Ghani M†, Pinto D†, Lee JH, Grinberg Y, Sato C, Moreno D, Scherer SW, Mayeux R, St. George-Hyslop P, Rogaeva E.  Genome-wide survey of large rare copy number variations in Alzheimer’s disease among Caribbean Hispanics. G3: Genes, Genomes, Genetics 2012;2:71-8. doi: 10.1534/g3.111.000869. PMID: 22384383; PMC3276183

  • Reitz C, Cheng R, Lee JH, Gringberg Y, Sato C, Moreno D, Scherer SW, Mayeux R. Association between variants in the IDE-KIFF11-HHEX and plasma amyloid β levels. Neurobiology of Aging 2012;33(1):199.e13-7. doi: 10.1016/j.neurobiolaging.2010.07.005. PMID: 20724036; PMCID: PMC3117070

  • Luukkonen T, Pöyhönen M, Palotie A, Ellonen P, Lagström S, Lee JH, Terwilliger JD, Salonen R, Varilo T.  A balanced translocation truncates Neurotrimin in a family with intracranial and thoracic aortic aneurysm. Journal of Medical Genetics. 2012;49(10):621-9. doi: 10.1136/jmedgenet-2012-100977.  PMID: 23054244; PMCID: PMC4039200 

  • Lee JH, Gurney S, Park N, Pang D, Temkin A, Janicki SC, Zigman WB, Silverman W, Tycko B, Schupf N. Polymorphisms in HSD17B1, earlier onset and increased risk of Alzheimer’s disease in women with Down syndrome. Current Gerontology and Geriatrics Research. 2012;2012:361218. doi: 10.1155/2012/361218. PMID:22474448 PMCID:PMC3310186

  • Chace C, Pang D, Weng C, Temkin A, Lax S, Silverman W, Zigman W, Ferin M, Lee JH, Tycko B, Schupf N. Variants in CYP17 and CYP19 cytochrome P450 genes are associated with onset of Alzheimer's disease in women with down syndrome. Journal of Alzheimer’s Disease. 2012;28(3):601-12. doi: 10.3233/JAD-2011-110860. PMID: 22057025; PMCID: PMC3276705.

  • Honig LS, Kang MS, Schupf N, Lee JH, Mayeux R. Association of shorter leukocyte telomere repeat length with dementia and mortality. Archives of Neurology 2012;69(10):1332-9. doi: 10.1001/archneurol.2012.1541. PMID: 22825311; PMCID: PMC3622729.  

 

2011ā€‹

  • Lee JH†, Cheng R†, Barral S†, Reitz C†, Medrano M, Lantigua R, Jiménez-Velazquez IZ, Rogaeva E, St George-Hyslop P, Mayeux R.  Identification of Novel Loci for Alzheimer Disease and Replication of CLU, PICALM, and BIN1 in Caribbean Hispanic Individuals. Archives of Neurology 2011;68(3):320-8. doi: 10.1001/archneurol.2010.292. PMID:21059989; PMCID: PMC3268783

  • Liu X†, Cheng R†, Verbitsky M, Kisselev S, Browne A, Mejia-Sanatana H, Louis ED, Cote LJ, Andrews H, Waters C, Ford B, Frucht S, Fahn S, Marder K, Clark LN, Lee JH. Genome-wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population. BMC Medical Genetics 2011;12:104-120. doi: 10.1186/1471-2350-12-104. PMID: 21812969; PMCID: PMC3166909    

  • Wijsman E, Pankratz N, Choi Y, Rothstein JH, Faber K, Cheng R, Lee JH, Bird T, Bennett DA, Diaz-Arrastia R, Goate A, Farlow M, Sweet RA, Foroud TM, Mayeux R for the NIA-LOAD/NCRAD Family Study Group. Genome wide association of familial late onset Alzheimer’s disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE.  PLoS Genetics 2011; 7(2):e1001308. doi: 10.1371/journal.pgen.1001308. PMID:21379329 PMCID: PMC3040659

  • Zhao Q, Lee JH, Pang C, Temkin A, Park N, Janicki SC, Zigman WB, Silverman W, Tycko B, Schupf N. Estrogen Receptor-beta variants are associated with increased risk of Alzheimer Disease in women with Down syndrome.  Dementia and Geriatric Cognitive Disorders. 2011;32(4):241-9. doi: 10.1159/000334522. PMID: 22156442. PMCID:  PMC3250648

  • Newman AB, Glynn NW, Taylor CA, Sebastiani P, Perls TT, Mayeux R, Christensen K, Zmuda J, Barral S, Lee JH, Simonsick E, Walston J, Yashin A, Hadley EC.  Health and function of participants in the Long Life Family Study:  A comparison with other cohorts. Aging 2011;3(1):63-76. doi: 10.18632/aging.100242. PMID:21258136 PMCID: PMC3047140

  • Birkeland A, Larrabee Y, Kent D, Flores C, Su G, Lee JH, Haddad J.  Novel IRF6 Mutations in Van der Woude syndrome patients in a Honduran population.  Molecular Medicine Reports 2011;4(2):237-41. doi: 10.3892/mmr.2011.423. PMID: 21468557

  • Larrabee YC, Birkeland AC, Kent DT, Flores C, Su GH, Lee JH, Haddad J.  Association of Common Variants, Not Rare Mutations, in IRF6 with Non-syndromic Clefts in a Honduran Population. Laryngoscope 2011;121(8):1756-9. doi: 10.1002/lary.21870. PMID: 21792966

  • Nervi A, Reitz C, Tang M-X, Santana V, Piriz A, Reyes D, Lantigua R, Medrano M, Jiménez-Velázquez IZ, Lee JH, Mayeux R.  Familial aggregation of dementia with Lewy bodies. Archives of Neurology 2011 Jan;68(1):90-3. doi:10.1001/archneurol.2010.319. PMID: 21220678 PMCID:PMC3268781

  • Reitz C, Cheng R, Rogaeva E, Lee JH, Tokuhiro S, Bettens K, Sleegers K, Tan EK, Kimura R, Shibata N, Kamboh I, Prince J, Maier W, Riemenschneider M, Owen M, Harold D, Hollingworth P, Cellini E, Takeda M, Pericak-Vance MA, Younkin S, Williams J, van Broeckhoven C, Farrer LA,  St. George-Hyslop P, Mayeux R.  A meta-analysis of the association between genetic variants in SORL1 and Alzheimer's disease.  Archives of Neurology 2011;68(1):99-106. doi: 10.1001/archneurol.2010.346. PMID: 21220680; PMCID: PMC3086666

  • Reitz C, Tokuhiro S, Clark LN, Conrad C, Vonsattel J-P, Palotas A, Lantigua R, Medrano M, Jiménez-Velázquez IZ, Haines JL, Pericak-Vance MA, Farrer LA, Lee JH, Rogaeva E, St. George-Hyslop P, Mayeux R.  SORCS1 alters amyloid precursor protein processing and variants may increase Alzheimer’s disease risk. Annals of Neurology 2011:69;47-64. doi: 10.1002/ana.22308 PMID: 21280075; PMCID: PMC3086759

  • Reitz C, Lee JH, Rogers RS, Mayeux R. Impact of genetic variation in SORCS1 on memory retention. PLoS One. 2011;6(10):e24588. doi: 10.1371/journal.pone.0024588. PMID: 22046233; PMCID: PMC3202519

  • Wilson RS, Barral S, Lee JH, Leurgans SE, Foroud TM, Sweet RA, Graff-Radford N, Bird TD, Mayeux R, Bennett DA for the National Institute on Aging Late-Onset Alzheimer’s Disease Genetics Study. Heritability of different forms of memory in the late onset Alzheimer’s Disease family study. Journal of Alzheimer's Disease 2011;23(2):249-55. doi: 10.3233/JAD-2010-101515 PMID: 20930268 PMCID: PMC3130303

 

2010ā€‹ā€‹

  • Wilson RS, Barral S, Lee JH, Leurgans SE, Foroud TM, Sweet RA, Graff-Radford N, Bird TD, Mayeux R, Bennett DA for the National Institute on Aging Late-Onset Alzheimer’s Disease Genetics Study. Heritability of different forms of memory in the late onset Alzheimer’s Disease family study. Journal of Alzheimer's Disease.  doi:10.3233/JAD-2010-101515. PMID: 20930268; PMCID: PMC3130303

  • Yashin AI, Arbeev KG, Kulminski A, Borecki I, Christensen K, Terry L, Barmada M, Hadley E, Rossi W, Lee JH, Cheng R, Elo IT.  "Predicting" parental longevity from offspring endophenotypes: Data from the Long Life Family Study. Mechanisms of Aging and Development 2010;131:215-222. doi: 10.1016/j.mad.2010.02.001. PMID: 20184914; PMC2865225

  • Clark LN, Kisselev S, Park N, Ross B, Verbitsky M, Ross E, Lee JH, Louis E. Mutations in the Parkinson’s Disease genes, Leucine Rich Repeat Kinase 2 (LRRK2) and Glucocerebrosidase (GBA), are not associated with essential tremor. Parkinsonism and Related Disorders 2010;16:132-135. doi: 10.1016/j.parkreldis.2009.05.008. PMID: 19527940; PMCID: PMC2822079

  • Clark LN, Kisselev S, Park N, Rios E, Lee JH, Louis ED. Replication of the LINGO1 gene association with essential tremor in a North American Population. European Journal of Human Genetics 2010;18(7):838-43. doi:10.1038/ejhg.2010.27 PMID: 20372186; PMCID: PMC2987362

2018
2017
2016
2015
2014
2013
2012
2011
2010

2009

  • Lee H-S, Paik MC, Lee JH. Estimating a multivariate familial correlation using joint models for canonical correlations: Application to memory score analysis from familial Hispanic Alzheimer disease study. Biometrics 2009; 65(2): 463–469. doi: 10.1111/j.1541-0420.2008.01075.x. PMID: 18565165; PMCID; PMC2714197. 

  • Chacon IJ, Molero AE, Pino-Ramirez G, Luchsinger JA, Lee JH, Maestre GE. Risk of dementia associated with elevated plasma homocysteine in a latin american population. International Journal of Alzheimer’s Disease. 2009;2009: 632489. doi: 10.4061/2009/632489. PMID: 20798752; PMCID: PMC2925085

  • Diercks GR, Karnezis TT, Kent DT, Flores C, Su GH, Lee JH, Haddad J Jr.  The Association between Interferon Regulatory Factor 6 (IRF6) and nonsyndromic cleft lip with or without cleft palate in a Honduran population. Laryngoscope 2009;119(9):1759–1764. doi: 10.1002/lary.20512. PMID: 19536891

  • Weng PL, Sanna-Cherchi S, Hensle T, Shapiro E, Werzberger A, Konka A, Caridi G, Izzi C, Werzberger S,  Burk RD, Lee JH, Scolari F, Ravazzolo R, Ghiggeri GM, Glassberg K, Gharavi AG. A recessive gene for primary vesicoureteral reflux maps to chromosome 12p11-q13. Journal of the American Society of Nephrology 2009;20(7):1633-40. doi: 10.1681/ASN.2008111199 PMID: 19443636; PMCID: PMC2709685

 

2008

  • Lee JH, Cheng R, Graff-Radford N, Foroud T, Mayeux R, and The National Institute on Aging Late Onset Alzheimer’s Disease Family Study Group. Analyses of the National Institute on Aging Late-Onset Alzheimer's Disease Family Study: Implication of additional loci. Archives of Neurology 2008;65(11):1518-1526. DOI:10.1001/archneur.65.11.1518. PMID: 19001172; PMCID: PMC2694670

  • Lee JH, Cheng R, Rogaeva E, Meng Y, Stern Y, Santana V, Lantigua R, Medrano M, Jimenez-Velazquez IZ, Farrer LA, St. George-Hyslop P, Mayeux R.  Further examination of the candidate genes in chromosome 12p13 locus for late-onset Alzheimer Disease. Neurogenetics 2008;9(2):127-138. DOI: 10.1007/s10048-008-0122-8. PMID: 18340469; PMCID: PMC2635895

  • Lee JH, Shibata N, Cheng R, Mayeux R. Possible association between SORl1 and Alzheimer disease: Reanalysing the Data of Shibata et al.  Dementia and Geriatric Cognitive Disorders. 2008;26(5):482. DOI: 10.1159/000167792. PMID: 18984959;  PMCID: PMC2703707

  • Lee JH, Cheng R, Honig L, Vonsattel J-P, Tycko B, Clark L, Mayeux R. The Association between genetic variants in SORL1 and autopsy-confirmed Alzheimer’s Disease. Neurology 2008; 70(11):887-9. DOI: 10.1212/01.wnl.0000280581.39755.89. PMID: 17978276; PMCID: PMC2634845.

  • Lee JH†, Barral S†, Cheng R†, Chacon I†, Santana V, Williamson J, Lantigua R, Medrano M, Jimenez-Velazq IZ, Stern Y,  Tycko B, Rogaeva E, Wakutani Y, Kawarai T, St George-Hyslop P, Mayeux R. Age-At-Onset Linkage Analysis in Caribbean Hispanics with familial late-onset Alzheimer’s Disease. Neurogenetics 2008; 9: 51–60.  DOI: 10.1007/s10048-007-0103-3. PMID: 17940814; PMCID: PMC2701253 

  • Nervi A, Reitz C, Tang M-X, Santana V, Piriz A, Lantigua R, Lee JH, Mayeux R. Comparison of clinical manifestation in Alzheimer’s disease  and Dementia with Lewy bodies. Archives of Neurology 2008; 65 (12):1634-1639. DOI: 10.1001/archneur.65.12.1634. PMID: 19064751; PMCID: PMC2633487

  • Schupf N, Lee JH, Wei M, Pang D, Chace C, Cheng R, Zigman WB, Tycko B, Silverman W. Estrogen Receptor-a variants increase risk of Alzheimer Disease in women with Down syndrome. Dementia and Geriatric Cognitive Disorders 2008; 25(5): 476-82. DOI: 10.1159/000126495. PMID: 18408366; PMCID: PMC2430887

  • Akerblom J, Luchsinger J, Manly JJ, Tang M-X, Lee JH, Mayeux R, Schupf N. Relation of plasma lipids to all-cause mortality in Caucasian, African American and Hispanic Elders. Age and Ageing 2008;37(2):207-13. DOI: 10.1093/ageing/afn017. PMID: 18349015; PMCID: PMC2715146  

  • Lee H-S, Paik MC, Lee JH. Genotype-adjusted familial correlation of memory scores based on three generalized estimating equations. Statistics in Medicine 2008; 27(26) :5471-83. DOI: 10.1002/sim.3344. PMID: 18570263; PMCID: PMC2736642

 

2007

  • Rogaeva E†, Meng Y†, Lee JH†, Gu Y†, Kawarai T†, Zou F†, Katayama T, Baldwin CT, Cheng R, Hasegawa H, Chen F, Shibata N, Lunetta KL, Pardossi-Piquard R, Bohm C, Wakutani Y, Cupples LA, Cuenco KT, Green RC, Pinessi L, Rainero I, Sorbi S, Bruni A, Duara R, Friedland R, Inzelberg R, Hampe W, Bujo H, Song Y, Andersen O, Willnow TE, Graff-Radford N, Petersen R, Dickson D, Der SD, Fraser PE, Schmitt-Ulms G, Younkin S, Mayeux R, Farrer LA, St George-Hyslop P. The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer’s Disease. Nature Genetics 2007;39(2): 168-177. doi: 10.1038/ng1943. PMID: 17220890; PMCID: PMC2657343

  • Lee JH, Chulikavit M, Pang D, Zigman WB, Silverman W, Schupf N. Association between genetic variants in sortilin-related receptor 1 (SORL1) and Alzheimer's disease in adults with Down syndrome. Neuroscience Letters. 2007;425(2):105-9. doi: 10.1016/j.neulet.2007.08.042. PMID: 17826910; PMCID: PMC2131721

  • Lee JH, Cheng R, Schupf N, Manly J, Lantigua R, Stern Y, Tycko B, Rogaeva E, Wakutani Y, St George-Hyslop P, Farrer L, Mayeux R. The association between genetic variants in SORL1 and Alzheimer’s Disease in an urban, multiethnic community-based cohort. Archives of Neurology 2007;64(4):501-506. doi: 10.1001/archneur.64.4.501. PMID: 17420311; PMCID: PMC2639214.

  • Meng Y, Lee JH, Cheng R, St George-Hyslop P, Mayeux R, Farrer LA.  Association between SORL1 and Alzheimer disease in a genome-wide study. NeuroReport 2007;18(17):1761-1764. doi: 10.1097/WNR.0b013e3282f13e7a. PMID: 18090307; PMCID: PMC2631643

  • Johnson B, Santana V, Schupf N, Tang M-X, Stern Y, Mayeux R, Lee JH. The heritability of abstract reasoning in Caribbean Latinos with familial Alzheimer Disease. Dementia and Geriatric Cognitive Disorders 2007;24:411-417. doi: 10.1159/000109765. PMID:17938569;PMCID: PMC2630497

  • Shibata N, Kawarai T, Meng Y, Lee JH, Lee H-S, Shibata E, Sato C, Sorbi S, Bruni AC, Duara R, Mayeux R, Farrer LA, St. George-Hyslop P, Rogaeva E. Association studies between the plasmin genes and late-onset Alzheimer’s disease. Neurobiology of Aging 2007; 28(7):1041-3. doi: 10.1016/j.neurobiolaging.2006.05.028. PMID: 16828203; PMCID: PMC2647723

 

2006

  • Lee JH, Cheng R, Santana V, Williamson J, Lantigua R, Medrano M,  Arriaga A, Stern Y, Tycko B, Rogaeva E, Wakutani Y, Kawarai T, St George-Hyslop P, Mayeux R. Expanded genome-wide scan implicates a novel locus at 3q28 among Caribbean Hispanics with familial Alzheimer’s disease. Archives of Neurology 2006; 63(11) :1591-1598. doi: 10.1001/archneur.63.11.1591. PMID: 17101828

  • Olarte L, Schupf N, Lee JH, Tang M-X, Santana V, Williamson J, Tycko B, Maramreddy P, Mayeux R. APOE-ε4 and Age-At-Onset of Sporadic and Familial Alzheimer Disease in Caribbean Hispanics. Archives of Neurology 2006; 63(11):1586-1590. doi: 10.1001/archneur.63.11.1586. PMID: 17101827

  • Rippon GA, Tang M-X, Lee JH, Lantigua R, Mayeux R. Stroke, Estrogen, APOE and familial Alzheimer Disease among Caribbean Hispanics. Neurology 2006;66(1):35-40. doi: 10.1212/01.wnl.0000191300.38571.3e. PMID:16401842; PMCID: PMC2639210

  • Shibata N, Kawarai T, Lee JH, Lee HS, Shibata E, Sato C, Liang Y, Duara R, Mayeux RP, St George-Hyslop PH, Rogaeva E. Association studies of cholesterol metabolism genes (CH25H, ABCA1 and CH24H) in Alzheimer's disease. Neuroscience Letters. 2006;391(3):142-6. doi: 10.1016/j.neulet.2005.08.048. PMID: 16157450.

  • Honig LS, Schupf N, Lee JH, Tang MX, Mayeux R. Short telomere length is associated with mortality in those with APOE4 and those with dementia. Annals of Neurology 2006;60(2):181-187. doi: 10.1002/ana.20894. PMID: 16807921

ā€‹

2005

  • Schupf N, Tang M-X, Costa R, Andrews H, Lee JH, Mayeux R. Decline in cognitive and functional skills increases mortality risk in nondemented elderly. Neurology 2005;65(8):1218-1226. doiI: 10.1212/01.wnl.0000180970.07386.cb. PMID: 16247048

  • Schupf N, Costa R, Luchsinger J, Tang M-X, Lee JH, Mayeux R. Relation of plasma lipids to all-cause mortality in nondemented elderly. Journal of the American Geriatrics Society 2005;53(2):219-226. doi: 10.1111/j.1532-5415.2005.53106.x  PMID: 15673344

 

2004

  • Lee JH†, Mayeux R†, Mayo D, Mo J, Santana V, Williamson J, Flaquer A, Ciappa A, Rondon HZ, Estevez P, Lantigua R, Kawarai T, Toulina A, Medrano M, Torres M, Stern Y, Tycko B, Rogaeva E, St George-Hyslop P, Knowles JA. Fine mapping of 10q and 18q for familial Alzheimer disease among Caribbean Hispanics. Molecular Psychiatry 2004;9(11):1042-1051. doi: 10.1038/sj.mp.4001538. PMID: 15241431; PMCID: PMC1578737.

  • Lee JH, Flaquer A, Stern Y, Tycko B, Mayeux R. Genetic influences on memory performance in familial Alzheimer’s disease. Neurology.  2004;62: 414-421. doi: 10.1212/01.wnl.0000106461.96637.ac. PMID: 14872023ā€‹

  • Lee JH, Flaquer A, Estrada-Nadal L, Costa R, Andrews H, Lantigua R, Mayeux R. Genetic influences on life span and survival among elderly African-Americans, Caribbean Hispanics, and Caucasians. American Journal of Medical Genetics 2004; 128A(2):159-164. doi: 10.1002/ajmg.a.30062. PMID:15214008

  • Tycko B, Lee JH, Ciappa A, Saxena A, Li C-M, Feng L, Arriaga A, Stern Y, Lantigua R, Shachter N, Mayeux R. APOE and APOC1 Promoter Polymorphisms and the risk of Alzheimer Disease in African-American and Caribbean Hispanic individuals. Archives of Neurology 2004; 61(9):1434-1439. doi: 10.1001/archneur.61.9.1434. PMID: 15364690

  • Schupf N, Costa R, Tang MX, Andrews H, Tycko B, Lee JH, Mayeux R. Preservation of cognitive and functional ability as markers of longevity. Neurobiology of Aging 2004;25:1231-1240. doi: 10.1016/j.neurobiolaging.2003.11.010. PMID: 15312969

 

2003

  • Fillenbaum GG, Burchett BM, Lee JH, Blazer DG. Mortality and Apolipoprotein E in African-American and White elders: An Attempted Replication. American Journal of Medical Genetics 2003;119A(2):141-146. doi: 10.1002/ajmg.a.20146. PMID: 12749052

 

2002

  • Mayeux R†, Lee JH†, Romas SN, Mayo D, Santana V, Willamson J, Ciappa A, Rondon HZ, Estevez P, Lantigua R, Medrano M, Torres M, Stern Y, Tycko B, Knowles JA. Chromosome 12 mapping of late-onset Alzheimer’s disease among Caribbean Hispanics. American Journal of Human Genetics 2002;70(1):237-243. doi: 10.1086/324773. PMID: 11715112; PMCID: PMC384892

  • Athan E, Lee JH, Arriaga AF, Mayeux RP, Tycko B. Polymorphisms in the promoter of the human APP gene: Functional evaluation and allele frequencies in Alzheimer’s disease. Archives of Neurology 2002;59(11):1793-1799. doi: 10.1001/archneur.59.11.1793. PMID:12433268 

  • Romas SN, Santana V, Williamson J, Ciappa A, Lee JH, Rondon HZ, Estevez P, Lantigua R, Medrano M, Torres M, Stern Y, Tycko B, Mayeux R. Familial Alzheimer’s disease among Caribbean Hispanics: A re-examination of the association with APOE. Archives of Neurology 2002;59(1):87-91. doi: 10.1001/archneur.59.1.87. PMID: 11790235

  • Terwilliger JD, Göring HHH, Magnusson PKE, Lee JH. Study design for genetic epidemiology and gene mapping: the Korean Diaspora Project. Life Science Research 2002;6(2):95-115.

  • Winawer MR, Martinelli Boneschi F, Barker-Cummings C, Lee JH, Gilliam TC, Pedley TA, Hauser WA, Ottman R. Four new families with autosomal dominant partial epilepsy with auditory features: clinical description and linkage to chromosome 10q24. Epilepsia 2002;43(1):60-67. doi: 10.1046/j.1528-1157.2002.45001.x. PMID: 11879388; PMCID: PMC2707111

 

2001

  • Athan E, Williamson J, Ciappa A, Santana V, Romas SN, Lee JH, Zadroga HR, Lantigua R, Medrano M, Torres M-B, Arawaka S, Rogaeva E, Song Y, Sata C, Kawarai T, St. George-Hyslop P, Stern Y, Tycko B, Mayeux R. A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families. JAMA 2001;286(18):2257-2263. doi: 10.1001/jama.286.18.2257. PMID: 11710891

  • Lee JH, Tang MX, Schupf N, Stern Y, Mayeux RP. Mortality and Apolipoprotein E in Hispanic, African-American, and Caucasian elders. American Journal of Medical Genetics 2001;103:121-127. doi: 10.1002/ajmg.1528. PMID: 11568917

  • Schupf N, Kapell D, Nightingale B, Lee JH, Mohlenoff J, Bewley S, Ottman R, Mayeux R. Specificity of the fivefold increase in AD in mothers of adults with Down syndrome. Neurology 2001;57(6):979-984. doi: 10.1212/wnl.57.6.979 PMID:11571320

  • Lee JH, Reed DR, Price RA. Leptin resistance is associated with extreme obesity and aggregates in families. International Journal of Obesity and Related Metabolic Disorders 2001;25(10):1471-1473. doi: 10.1038/sj.ijo.0801736. PMID: 11673768

 

2000

  • Price RA, Lee JH. Risk ratios for obesity in obese African-American and Caucasian women. Human Heredity2000;51:35-40. doi: 10.1159/000022957 PMID: 11096269

  • Li WD, Lee JH, Price RA. The peroxisome proliferator-activated receptor g2 Pro12Ala mutation is associated with early-onset extreme obesity and reduced fasting glucose. Molecular Genetics and Metabolism 2000;70:159-161. doi: 10.1006/mgme.2000.2999. PMID: 10873398

 

1999

  • Lee JH, Reed DR, Li W-D, Xu W, Joo E-J, Kilker RL, Nanthakumar E, North M, Sakul H, Bell C, Price RA. Genome scan for human obesity and linkage to markers in 20q13. American Journal of Human Genetics1999;64(1):196-209. doi: 10.1086/302195 PMID: 9915959; PMCID: PMC1377718

  • Li WD, Reed DR, Lee JH, Xu W, Kilker RL, Sodam BR, Price RA. Sequence variants in the 5’ untranslated region of the leptin gene are associated with obesity in women. Annals of Human Genetics 1999;63:227-234. doi: 10.1046/j.1469-1809.1999.6330227.x. PMID: 10738535

  • Joo EJ, Lee JH, Cannon TD, Price RA. Possible association between schizophrenia and a CAG repeat polymorphism in Spinocerebellar Ataxia Type 1 (SCA1) gene on human chromosome 6p23. Psychiatric Genetics 1999;9:7-11. doi: 10.1097/00041444-199903000-00002. PMID:10335546

 

1998

  • Price RA, Reed DR, Lee JH. Obesity related phenotypes in families selected for extreme obesity and leanness. International Journal of Obesity and Related Metabolic Disorders 1998; 22: 406-413. doi: 10.1038/sj.ijo.0800601. PMID: 9622337

  • Ottman R, Lee JH, Hauser WA, Risch N. Are generalized and localization-related epilepsies genetically distinct? Archives of Neurology 1998; 55(3): 339-344. doi: 10.1001/archneur.55.3.339. PMID: 9520007 PMCID: PMC1626267

  • Kapell D, Nightingale B, Rodriguez A, Lee JH, Zigman WB, Schupf N. Prevalence of chronic medical conditions in adults with mental retardation with and without Down syndrome: Comparison with the general population. Mental Retardation 1998; 36(4): 269-279. doi: 10.1352/0047-6765(1998)036<0269:POCMCI>2.0.CO;2. PMID: 9713183

 

1997

  • Lee JH, Reed DR, Price RA. Familial risk ratios for extreme obesity: Implications for mapping human obesity genes. International Journal of Obesity and Related Metabolic Disorders 1997;21(10):935-940. doi: 10.1038/sj.ijo.0800498. PMID: 9347413

  • Schupf N, Zigman W, Kapell D, Lee J, Kline J, Levin B. Early menopause in women with Down’s syndrome. Journal of Intellectual Disability Research 1997;41(3):264-267. doi: 10.1111/j.1365-2788.1997.tb00706.x. PMID: 9219076

  • Jenkins EC, Schupf N, Genovese M, Ye LL, Kapell D, Canto B, Harris M, Devenny D, Lee JH, Brown WT. Increased low level Chromosome 21 mosaicism in older individuals with Down syndrome. American Journal of Medical Genetics 1997;68(2):147-151. doi: 10.1002/(sici)1096-8628(19970120)68:2<147::aid-ajmg5>3.0.co;2-m PMID: 9028448

  • Ottman R, Hauser A, Barker-Cummings C, Lee JH, Risch N. Segregation analysis of cryptogenic epilepsy and an empirical test of the validity of the results.  American Journal of Human Genetics 1997;60(3): 667-675. PMID: 9042928; PMCID: PMC1712524

 

1996

  • Schupf N, Kapell D, Lee JH, Zigman W, Canto B, Tycko B, Mayeux R. Onset of dementia is associated with Apoliprotein E e4 in Down syndrome. Annals of Neurology 1996;40(5):799-801. doi: 10.1002/ana.410400518. PMID: 8957023

  • Ottman R, Lee JH, Risch N, Hauser WA, Susser M. Clinical indicators of genetic susceptibility to epilepsy. Epilepsia 1996;37(4):353-361. doi: 10.1111/j.1528-1157.1996.tb00571.x. PMID: 8603640

  • Junco-Munoz P, Ottman R, Lee JH, Barton SA, Rivas F, Cerda-Flores RM. Blood lead concentrations and associated factors in residents of Monterrey, Mexico. Archives of Medical Research 1996;27(4):547-551. PMID: 8987193

ā€‹

1995

  • Ottman R, Risch N, Hauser WA, Pedley TA, Lee JH, Barker-Cummings C, Lustenberger A, Nagle KJ, Lee KS, Scheuer ML, Neystat M, Susser M, Wilhelmsen K. Localization of a gene for partial epilepsy to chromosome 10q. Nature Genetics 1995;10:56-60. DOI: 10.1038/ng0595-56. PMID: 7647791; PMCID: PMC2823475

  • Ottman R, Lee JH, Hauser WA, Risch N. Birth cohort and familial risk of epilepsy: the effect of diminished recall in studies of lifetime prevalence. American Journal of Epidemiology 1995;141(3):235-241. DOI: 10.1093/oxfordjournals.aje.a117425 PMID: 7840097 

 

1994

  • Schupf N, Kapell D, Lee JH, Ottman R, Mayeux R. Increased risk for Alzheimer's disease in mothers of adults with Down syndrome. The Lancet 1994;344:353-356. DOI: 10.1016/s0140-6736(94)91398-6. PMID: 7914304

  • Schupf N, Kapell D, Lee JH, Ottman R, Mayeux R. The authors reply [letter]. Increased risk for Alzheimer's disease in mothers of adults with Down syndrome. The Lancet 1994;344:1093-1094.

 

1993

  • Ottman R, Lee JH, Hauser WA, Hong S, Hesdorffer D, Schupf N, Pedley TA, Scheuer, ML. Reliability of seizure classification using a semistructured interview. Neurology 1993;43:2526-2530. DOI: 10.1212/wnl.43.12.2526. PMID: 8255451; PMCID: PMC2429957

2009
2008
2007
2006
2005
2004
2003
2002
2001
2000 & earlier

Joseph H. Lee, DrPH

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