My Bibliography

select

Roach JC, Glusman G, Rapozo MK, Merrill DA, Bramen J, Hodes JF, Siddarth P, Meysami S, Elhelou SHK, Glatt RM, Edens L, Funk C, Kelly D, Shankle WR, Bredesen D, Raji CA, Hood L. Multidomain therapy for Alzheimer's disease: a scoping review of cognitive decline trials. Mol Neurodegener. 2025 Nov 22;20(1):125. doi: 10.1186/s13024-025-00912-2. Review. PubMed PMID: 41275266; PubMed Central PMCID: PMC12751316.

select

Bramen JE, Siddarth P, Popa ES, Kress GT, Rapozo MK, Hodes JF, Ganapathi AS, Sparks WM, Tongson YM, Torres AM, Meysami S, Slyapich CB, Glatt RM, Pierce K, Miller KJ, Elhelou SH, Porter VR, Wong C, Kim M, Panos S, Hirsch DA, Raji CA, Bookheimer SY, Hood L, Roach JC, Merrill DA. A multi-modal medical management and lifestyle intervention increase cerebral blood flow and lowers diabetic risk in persons with early Alzheimer's disease: Mid-trial results from the PREVENTION trial. J Alzheimers Dis. 2025 Dec;108(4):1819-1833. doi: 10.1177/13872877251388933. Epub 2025 Nov 16. PubMed PMID: 41243261; PubMed Central PMCID: PMC12715032.

select

Hodes JF, Bramen JE, Ganapathi AS, Glatt RM, Rapozo MK, Slyapich CB, Wong CL, Porter VR, Kim M, Tongson YM, Meysami S, Dye RV, Bookheimer T, Popa E, Roach JC, Merrill DA, Siddarth P. Distinct frailty phenotypes are associated with cognitive performance and brain structure in amyloid-positive Alzheimer’s disease. Preprints.org [preprint]. 2025 July. preprints202507.2235Available from: https://www.preprints.org/manuscript/202507.2235/v1. doi: 10.20944/preprints202507.2235.v1.

select

Fecho K, Glusman G, Baranzini SE, Bizon C, Brush M, Byrd W, Chung L, Crouse A, Deutsch E, Dumontier M, Foksinska A, Hadlock J, He K, Huang S, Hubal R, Hyde GM, Israni S, Kenmogne K, Koslicki D, Marcette JD, Mathe EA, Mesbah A, Moxon SAT, Mungall CJ, Osborne J, Pasfield C, Qin G, Ramsey SA, Reese J, Roach JC, Rose R, Soman K, Su AI, Ta C, Vaidya G, Weber R, Wei Q, Williams M, Wu C, Xu C, Yakaboski C. Announcing the Biomedical Data Translator: Initial Public Release. Clin Transl Sci. 2025 Jul;18(7):e70284. doi: 10.1111/cts.70284. Review. PubMed PMID: 40635371; PubMed Central PMCID: PMC12241707.

select

Hodges FM, Pullela S, Cohen G, Mulgund A, Roach JC, Ramsey SA. Using AI to Improve Diagnosis and Treatment of Rare Diseases: A Chat Agent for Equitable and Accessible Healthcare. In: Bellazzi, R., Juarez Herrero, J.M., Sacchi, L., Zupan, B. (eds) Artificial Intelligence in Medicine. Artificial Intelligence in Medicine (AIME) Conference 2025. Lecture Notes in Computer Science. 2025 June; 15735:186. doi: doi.org/10.1007/978-3-031-95841-0_35.

select

Freidin MB, Roach JC. Editorial: A year in review: discussions in human and medical genomics. Front Genet. 2025;16:1618183. doi: 10.3389/fgene.2025.1618183. eCollection 2025. PubMed PMID: 40463713; PubMed Central PMCID: PMC12129931.

select

Roach JC, Funk CC, Glusman G, Merrill DA, Hodes JF, Rapozo MK, Edens L, Vaidyaraman A, Shankle WR, Hood L, Bramen JE, COCOA Consortium. Specific plasma proteins and metabolites convey the effects of lifestyle interventions that improve cognition and function in Alzheimer’s disease. Alzheimers Dement. 2025 January; 20(Suppl 7):e091942.

select

Qin G, Narsinh K, Wei Q, Roach JC, Joshi A, Goetz SL, Moxon ST, Brush MH, Xu C, Yao Y, Glen AK, Morris ED, Ralevski A, Roper R, Belhu B, Zhang Y, Shmulevich I, Hadlock J, Glusman G. Generating Biomedical Knowledge Graphs from Knowledge Bases, Registries, and Multiomic Data. bioRxiv. 2024 Nov 15;. doi: 10.1101/2024.11.14.623648. PubMed PMID: 39605475; PubMed Central PMCID: PMC11601480.

select

Roach JC, Rapozo MK, Hara J, Glusman G, Lovejoy J, Shankle WR, Hood L. A Remotely Coached Multimodal Lifestyle Intervention for Alzheimer's Disease Ameliorates Functional and Cognitive Outcomes. J Alzheimers Dis. 2023;96(2):591-607. doi: 10.3233/JAD-230403. PubMed PMID: 37840487.

select

Bramen JE, Siddarth P, Popa ES, Kress GT, Rapozo MK, Hodes JF, Ganapathi AS, Slyapich CB, Glatt RM, Pierce K, Porter VR, Wong C, Kim M, Dye RV, Panos S, Bookheimer T, Togashi T, Loong S, Raji CA, Bookheimer SY, Roach JC, Merrill DA. Impact of Eating a Carbohydrate-Restricted Diet on Cortical Atrophy in a Cross-Section of Amyloid Positive Patients with Alzheimer's Disease: A Small Sample Study. J Alzheimers Dis. 2023;96(1):329-342. doi: 10.3233/JAD-230458. PubMed PMID: 37742646; PubMed Central PMCID: PMC10657694.

select

Roach JC, Freidin MB. Editorial: Insights in human and medical genomics: 2022. Front Genet. 2023;14:1287894. doi: 10.3389/fgene.2023.1287894. eCollection 2023. PubMed PMID: 37818104; PubMed Central PMCID: PMC10561311.

select

Fecho K, Bizon C, Issabekova T, Moxon S, Thessen AE, Abdollahi S, Baranzini SE, Belhu B, Byrd WE, Chung L, Crouse A, Duby MP, Ferguson S, Foksinska A, Forero L, Friedman J, Gardner V, Glusman G, Hadlock J, Hanspers K, Hinderer E, Hobbs C, Hyde G, Huang S, Koslicki D, Mease P, Muller S, Mungall CJ, Ramsey SA, Roach J, Rubin I, Schurman SH, Shalev A, Smith B, Soman K, Stemann S, Su AI, Ta C, Watkins PB, Williams MD, Wu C, Xu CH. An approach for collaborative development of a federated biomedical knowledge graph-based question-answering system: Question-of-the-Month challenges. J Clin Transl Sci. 2023;7(1):e214. doi: 10.1017/cts.2023.619. eCollection 2023. PubMed PMID: 37900350; PubMed Central PMCID: PMC10603356.

select

Kaye JA, Lima L, Pico A, Lam S, Traglia M, Deng M, Mahajan S, Shin M, Thomas R, Daub A, Kratter I, Zahed H, Dunlap M, May H, Jo L, Barbe L, Roby E, Nelson A, Holloway A, Gillis T, MacDonald M, Jackson J, Li H, Glusman G, Roach JC, Ross CA, Foroud T, Wyman S, Finkbeiner S. Family-Based Whole Genome Sequence Analysis Uncovers Age Onset Modifiers of Huntington's Disease. [preprint]. 2023 July. Available from: https://ssrn.com/abstract=4522050.

select

Watanabe K, Wilmanski T, Baloni P, Robinson M, Garcia GG, Hoopmann MR, Midha MK, Baxter DH, Maes M, Morrone SR, Crebs KM, Kapil C, Kusebauch U, Wiedrick J, Lapidus J, Pflieger L, Lausted C, Roach JC, Glusman G, Cummings SR, Schork NJ, Price ND, Hood L, Miller RA, Moritz RL, Rappaport N. Lifespan-extending interventions induce consistent patterns of fatty acid oxidation in mouse livers. Commun Biol. 2023 Jul 22;6(1):768. doi: 10.1038/s42003-023-05128-y. PubMed PMID: 37481675; PubMed Central PMCID: PMC10363145.

select

Merrill DA, Bramen JE, Hodes JF, Rapozo MK, Glatt RM, Ganapathi AS, Wong CL, Porter VR, Kim M, Tongson YM, Bookheimer TH, Popa ES, Meysami S, Nomura N, Choden P, Dye RV, Togashi T, Loong S, Kress G, Panos SE, Miller KJ, Siddarth P, Roach JC. Precision Recommendations to Optimize Neurocognition [PREVENTION] Trial: Preliminary Results. AAIC; 2023 July 16; Amsterdam, Netherlands. Alzheimer's Association; c2023.

select

Glen AK, Ma C, Mendoza L, Womack F, Wood EC, Sinha M, Acevedo L, Kvarfordt LG, Peene RC, Liu S, Hoffman AS, Roach JC, Deutsch EW, Ramsey SA, Koslicki D. ARAX: a graph-based modular reasoning tool for translational biomedicine. Bioinformatics. 2023 Mar 1;39(3). doi: 10.1093/bioinformatics/btad082. PubMed PMID: 36752514; PubMed Central PMCID: PMC10027432.

select

Bramen J, Popa E, Rapozo M, Siddarth P, Hodes J, Ganapathi A, Slyapich C, Glatt R, Porter V, Wong C, Bookheimer S, Roach J, Merrill D. Net Carbohydrate Consumption is Associated with Cortical Thickness in Cognitively Impaired Older Adults with Confirmed Amyloid Burden. Alzheimer's & Dementia. 2022; 18(S11):e062649.

select

Roach J, Hara J, Edens L, Rajbhandari S, Dill L, Romansik R, Rapozo M, Funk C, Jade K, Merrill D, Bramen J, Panos S, Porter V, Dye R, Ganapathi A, Hodes J, Slyapich C, Glatt R, Wong C, Fortier D, Shankle W. Frequent Cognitive Tests Increase Power for Alzheimer’s Disease Clinical Trials. Alzheimer's & Dementia. 2022; 18(S10):e063995.

select

Meysami S, Raji C, Chwa W, Popa E, Ganapathi A, Bookheimer T, Slyapich C, Pierce K, Richards C, Gill J, Lampa M, Rapozo M, Hodes J, Glatt R, Tongson Y, Wong C, Kim M, Porter V, Kaiser S, Panos S, Dye R, Miller K, Bookheimer S, Martin N, Kesari S, Kelly D, Siddarth P, Roach J, Bramen J, Merrill D. Preliminary Evaluation of Longitudinal Brain MRI Volumetric Quantification in Persons with Cognitive Decline and Confirmed Amyloid Burden Undergoing Multi-Modal Interventions at an Outpatient Memory Clinic. Alzheimer's & Dementia. 2022; 18(S5):e063695.

select

Goldman JD, Wang K, Röltgen K, Nielsen SCA, Roach JC, Naccache SN, Yang F, Wirz OF, Yost KE, Lee JY, Chun K, Wrin T, Petropoulos CJ, Lee I, Fallen S, Manner PM, Wallick JA, Algren HA, Murray KM, Hadlock J, Chen D, Dai CL, Yuan D, Su Y, Jeharajah J, Berrington WR, Pappas GP, Nyatsatsang ST, Greninger AL, Satpathy AT, Pauk JS, Boyd SD, Heath JR. Reinfection with SARS-CoV-2 and Waning Humoral Immunity: A Case Report. Vaccines (Basel). 2022 Dec 20;11(1). doi: 10.3390/vaccines11010005. PubMed PMID: 36679852; PubMed Central PMCID: PMC9861578.

select

Roach JC, Edens LE, Rajbhandari S, Hara J, Bramen J, Rapozo MK, Funk CC, Shankle WR, Hood L. A multimodal clinical and lifestyle intervention induces multiomic systemic effects and improves cognitive outcomes in Alzheimer’s disease. CTAD; 2022 December; San Francisco, CA, USA. c2022.

select

Wood EC, Glen AK, Kvarfordt LG, Womack F, Acevedo L, Yoon TS, Ma C, Flores V, Sinha M, Chodpathumwan Y, Termehchy A, Roach JC, Mendoza L, Hoffman AS, Deutsch EW, Koslicki D, Ramsey SA. RTX-KG2: a system for building a semantically standardized knowledge graph for translational biomedicine. BMC Bioinformatics. 2022 Sep 29;23(1):400. doi: 10.1186/s12859-022-04932-3. PubMed PMID: 36175836; PubMed Central PMCID: PMC9520835.

select

Roach JC, Edens L, Markewych DR, Rapozo MK, Hara J, Glusman G, Funk CC, Bramen J, Baloni P, Shankle WR, Hood L. A multimodal intervention for Alzheimer’s disease results in multifaceted systemic effects reflected in blood and ameliorates functional and cognitive outcomes. [preprint]. 2022 September. Available from: https://www.medrxiv.org/content/10.1101/2022.09.27.22280385v1. doi: 10.1101/2022.09.27.22280385.

select

Roach JC, Hara J, Edens L, Rajbhandari S, Dill L, Romansik R, Rapozo MK, Funk CC, Jade K, Merrill DA, Bramen JE, Panos SE, Porter VR, Dye RV, Ganapathi AS, Hodes JS, Slyapich CB, Glatt RM, Wong CL, Fortier D, Shankle WR. Frequent Cognitive Tests Increase Power for Alzheimer’s Disease Clinical Trials. AAIC; 2022 August; San Diego, CA, USA. Alzheimer's Association; c2022.

select

Roach JC, Hara J, Fridman D, Lovejoy JC, Jade K, Heim L, Romansik R, Swietlikowski A, Phillips S, Rapozo MK, Shay MA, Fischer D, Funk C, Dill L, Brant-Zawadzki M, Hood L, Shankle WR. The Coaching for Cognition in Alzheimer's (COCOA) trial: Study design. Alzheimers Dement (N Y). 2022;8(1):e12318. doi: 10.1002/trc2.12318. eCollection 2022. PubMed PMID: 35910672; PubMed Central PMCID: PMC9322829.

select

Watanabe K, Wilmanski T, Baloni P, Robinson M, Garcia GG, Hoopman MR, Midha MK, Baxter DH, Maes M, Morrone SR, Crebs KM, Kapil C, Kusebauch U, Wiedrick J, Lapidus J, Lovejoy JC, Magis AT, Lausted C, Roach JC, Glusman G, Schork NJ, Orwoll ES, Price ND, Hood L, Miller RA, Moritz RL, Rappaport N. Systems-level patterns in biological processes are changed under prolongevity interventions and across biological age. Version: 2. [preprint]. 2022 July. Available from: https://www.medrxiv.org/content/10.1101/2022.07.11.22277435v2. doi: 10.1101/2022.07.11.22277435.

select

Roach JC, Hodes JF, Funk CC, Shankle WR, Merrill DA, Hood L, Bramen J. Dense data enables 21st century clinical trials. Alzheimers Dement (N Y). 2022;8(1):e12297. doi: 10.1002/trc2.12297. eCollection 2022. PubMed PMID: 35733645; PubMed Central PMCID: PMC9191823.

select

Unni DR, Moxon SAT, Bada M, Brush M, Bruskiewich R, Caufield JH, Clemons PA, Dancik V, Dumontier M, Fecho K, Glusman G, Hadlock JJ, Harris NL, Joshi A, Putman T, Qin G, Ramsey SA, Shefchek KA, Solbrig H, Soman K, Thessen AE, Haendel MA, Bizon C, Mungall CJ. Biolink Model: A universal schema for knowledge graphs in clinical, biomedical, and translational science. Clin Transl Sci. 2022 Aug;15(8):1848-1855. doi: 10.1111/cts.13302. Epub 2022 Jun 6. Review. PubMed PMID: 36125173; PubMed Central PMCID: PMC9372416.

select

Fecho K, Thessen AE, Baranzini SE, Bizon C, Hadlock JJ, Huang S, Roper RT, Southall N, Ta C, Watkins PB, Williams MD, Xu H, Byrd W, Dančík V, Duby MP, Dumontier M, Glusman G, Harris NL, Hinderer EW, Hyde G, Johs A, Su AI, Qin G, Zhu Q. Progress toward a universal biomedical data translator. Clin Transl Sci. 2022 Aug;15(8):1838-1847. doi: 10.1111/cts.13301. Epub 2022 Jun 6. Review. PubMed PMID: 35611543; PubMed Central PMCID: PMC9372428.

select

Hasin N, Riggs LM, Shekhtman T, Ashworth J, Lease R, Oshone RT, Humphries EM, Badner JA, Thomson PA, Glahn DC, Craig DW, Edenberg HJ, Gershon ES, McMahon FJ, Nurnberger JI, Zandi PP, Kelsoe JR, Roach JC, Gould TD, Ament SA. Rare variants implicate NMDA receptor signaling and cerebellar gene networks in risk for bipolar disorder. Mol Psychiatry. 2022 Sep;27(9):3842-3856. doi: 10.1038/s41380-022-01609-4. Epub 2022 May 11. PubMed PMID: 35546635.

select

Roach JC. Empirical Model of Spring 2020 Decrease in Daily Confirmed COVID-19 Cases in King County, Washington. medRxiv. 2022 Feb 7;. doi: 10.1101/2020.05.11.20098798. PubMed PMID: 35734092; PubMed Central PMCID: PMC9216716.

select

Ross MK, Raji C, Lokken KL, Bredesen DE, Roach JC, Funk CC, Price N, Rappaport N, Hood L, Heath JR. Case Study: A Precision Medicine Approach to Multifactorial Dementia and Alzheimer's Disease. J Alzheimers Dis Parkinsonism. 2021;11(Suppl 5). Epub 2021 Aug 25. PubMed PMID: 35237464; PubMed Central PMCID: PMC8887953.

select

McEwen SC, Merrill DA, Bramen J, Porter V, Panos S, Kaiser S, Hodes J, Ganapathi A, Bell L, Bookheimer T, Glatt R, Rapozo M, Ross MK, Price ND, Kelly D, Funk CC, Hood L, Roach JC. A systems-biology clinical trial of a personalized multimodal lifestyle intervention for early Alzheimer's disease. Alzheimers Dement (N Y). 2021;7(1):e12191. doi: 10.1002/trc2.12191. eCollection 2021. PubMed PMID: 34295960; PubMed Central PMCID: PMC8290633.

select

Goldman JD, Wang K, Röltgen K, Nielsen SCA, Roach JC, Naccache SN, Yang F, Wirz OF, Yost KE, Lee JY, Chun K, Wrin T, Petropoulos CJ, Lee I, Fallen S, Manner PM, Wallick JA, Algren HA, Murray KM, Su Y, Hadlock J, Jeharajah J, Berrington WR, Pappas GP, Nyatsatsang ST, Greninger AL, Satpathy AT, Pauk JS, Boyd SD, Heath JR. Reinfection with SARS-CoV-2 and Failure of Humoral Immunity: a case report. medRxiv. 2020 Sep 25;. doi: 10.1101/2020.09.22.20192443. PubMed PMID: 32995830; PubMed Central PMCID: PMC7523175.

select

Roach JC. Empirical Model of Spring 2020 Decrease in Daily Confirmed COVID-19 Cases in King County, Washington. MedRxiv. 2020 May. doi: 10.1101/2020.05.11.20098798v4.

select

Roach J, et al. The Coaching for Cognition in Alzheimer's (COCOA) Trial. AAIC; 2019; c2019.

select

Roach J, et al. Dense Longitudinal Molecular Data for Turbocharging Clinical Trials. Clinical Trials on Alzheimer's Disease Annual Conference (CTAD); 2019; San Diego, CA. c2019.

select

Roach J, Hara J, Lovejoy J, Fridman D, Funk C, Heath L, Price N, Hood L, Heim L, Brant-Zawadski M, Shankle W. P4-017: COACHING FOR COGNITION IN ALZHEIMER'S (COCOA) TRIAL. Alzheimer's & Dementia. 2019; 15(7S_Part_24):P1279-P1280.

select

McEwen S, Roach J, et al. A Precision Medicine Multimodal Lifestyle Intervention for Treating Cognitive Impairment: Conceptual Framework of the PREVENTION Trial. Clinical Trials on Alzheimer's Disease Annual Conference (CTAD); 2019 December; San Diego, CA, USA. c2019.

select

Fecho K, Ahalt SC, Arunachalam S, Champion J, Chute CG, Davis S, Gersing K, Glusman G, Hadlock J, Lee J, Pfaff E, Robinson M, Sid E, Ta C, Xu H, Zhu R, Zhu Q, Peden DB. Sex, obesity, diabetes, and exposure to particulate matter among patients with severe asthma: Scientific insights from a comparative analysis of open clinical data sources during a five-day hackathon. J Biomed Inform. 2019 Dec;100:103325. doi: 10.1016/j.jbi.2019.103325. Epub 2019 Oct 30. PubMed PMID: 31676459; PubMed Central PMCID: PMC6953386.

select

Hasin N, Roach J, Ament S, et al. Characterization of a novel rare missense variant of the D-amino acid oxidase gene as a penetrant cause of psychosis. Neuroscience 2019 (SfN); 2019 October 23; Chicago, IL, USA. c2019.

select

Ahalt SC, Chute CG, Fecho K, Glusman G, Hadlock J, Taylor CO, Pfaff ER, Robinson PN, Solbrig H, Ta C, Tatonetti N, Weng C. Clinical Data: Sources and Types, Regulatory Constraints, Applications. Clin Transl Sci. 2019 Jul;12(4):329-333. doi: 10.1111/cts.12638. Epub 2019 May 9. PubMed PMID: 31074176; PubMed Central PMCID: PMC6617834.

select

Knijnenburg TA, Vockley JG, Chambwe N, Gibbs DL, Humphries C, Huddleston KC, Klein E, Kothiyal P, Tasseff R, Dhankani V, Bodian DL, Wong WSW, Glusman G, Mauldin DE, Miller M, Slagel J, Elasady S, Roach JC, Kramer R, Leinonen K, Linthorst J, Baveja R, Baker R, Solomon BD, Eley G, Iyer RK, Maxwell GL, Bernard B, Shmulevich I, Hood L, Niederhuber JE. Genomic and molecular characterization of preterm birth. Proc Natl Acad Sci U S A. 2019 Mar 19;116(12):5819-5827. doi: 10.1073/pnas.1716314116. Epub 2019 Mar 4. PubMed PMID: 30833390; PubMed Central PMCID: PMC6431191.

select

Miller N, Ament SA, Shekhtman T, Roach JC, Kelsoe JR. Variants in the Promoter of Trkb are Associated with a Good Response to Lithium in Bipolar Disorder. European Neuropsychopharmacology. 2019 January; 29(3):S965. doi: https://doi.org/10.1016/j.euroneuro.2017.08.328.

select

Budde M, Friedrichs S, Alliey-Rodriguez N, Ament S, Badner JA, Berrettini WH, Bloss CS, Byerley W, Cichon S, Comes AL, Coryell W, Craig DW, Degenhardt F, Edenberg HJ, Foroud T, Forstner AJ, Frank J, Gershon ES, Goes FS, Greenwood TA, Guo Y, Hipolito M, Hood L, Keating BJ, Koller DL, Lawson WB, Liu C, Mahon PB, McInnis MG, McMahon FJ, Meier SM, Mühleisen TW, Murray SS, Nievergelt CM, Nurnberger JI Jr, Nwulia EA, Potash JB, Quarless D, Rice J, Roach JC, Scheftner WA, Schork NJ, Shekhtman T, Shilling PD, Smith EN, Streit F, Strohmaier J, Szelinger S, Treutlein J, Witt SH, Zandi PP, Zhang P, Zöllner S, Bickeböller H, Falkai PG, Kelsoe JR, Nöthen MM, Rietschel M, Schulze TG, Malzahn D. Efficient region-based test strategy uncovers genetic risk factors for functional outcome in bipolar disorder. Eur Neuropsychopharmacol. 2019 Jan;29(1):156-170. doi: 10.1016/j.euroneuro.2018.10.005. Epub 2018 Nov 29. PubMed PMID: 30503783.

select

The Biomedical Data Translator Program: Conception, Culture, and Community. Clin Transl Sci. 2019 Mar;12(2):91-94. doi: 10.1111/cts.12592. Epub 2018 Nov 9. PubMed PMID: 30412340; PubMed Central PMCID: PMC6440573.

select

Toward A Universal Biomedical Data Translator. Clin Transl Sci. 2019 Mar;12(2):86-90. doi: 10.1111/cts.12591. Epub 2018 Nov 9. PubMed PMID: 30412337; PubMed Central PMCID: PMC6440568.

select

Roach JC. Complex Medical Therapies for Treating Complex Diseases. Translational Medicine Symposium: Creating Solutions for Clinical Problems. 2018 October; WSU Health Sciences Spokane, WA.

select

Chao MJ, Kim KH, Shin JW, Lucente D, Wheeler VC, Li H, Roach JC, Hood L, Wexler NS, Jardim LB, Holmans P, Jones L, Orth M, Kwak S, MacDonald ME, Gusella JF, Lee JM. Population-specific genetic modification of Huntington's disease in Venezuela. PLoS Genet. 2018 May;14(5):e1007274. doi: 10.1371/journal.pgen.1007274. eCollection 2018 May. PubMed PMID: 29750799; PubMed Central PMCID: PMC5965898.

select

Hou L, Kember RL, Roach JC, O'Connell JR, Craig DW, Bucan M, Scott WK, Pericak-Vance M, Haines JL, Crawford MH, Shuldiner AR, McMahon FJ. A population-specific reference panel empowers genetic studies of Anabaptist populations. Sci Rep. 2017 Jul 20;7(1):6079. doi: 10.1038/s41598-017-05445-3. PubMed PMID: 28729679; PubMed Central PMCID: PMC5519631.