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Matthew Lebo, Ph.D.

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Biography
Boston UniversityBA05/2002Mathematics and Biology
University of Southern CaliforniaPhD02/2008Computational and Molecular Biology
Harvard Medical School06/2011Clinical Molecular Genetics

Overview

Bibliographic
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Blout Zawatsky CL, Bick D, Bier L, Funke B, Lebo M, Lewis KL, Orlova E, Qian E, Ryan L, Schwartz MLB, Soper ER. Elective genomic testing: Practice resource of the National Society of Genetic Counselors. J Genet Couns. 2023 Jan 04. PMID: 36597794.
    Citations:    Fields:    
  2. Casalino S, Frangione E, Chung M, MacDonald G, Chowdhary S, Mighton C, Faghfoury H, Bombard Y, Strug L, Pugh TJ, Simpson J, Arnoldo S, Aujla N, Bearss E, Binnie A, Borgundvaag B, Chertkow H, Clausen M, Dagher M, Devine L, Di Iorio D, Friedman SM, Fung CYJ, Gingras AC, Goneau LW, Kaushik D, Khan Z, Lapadula E, Lu T, Mazzulli T, McGeer A, McLeod SL, Morgan G, Richardson D, Singh H, Stern S, Taher A, Wong I, Zarei N, Greenfeld E, Hao L, Lebo M, Lane W, Noor A, Taher J, Lerner-Ellis J. Genome screening, reporting, and genetic counseling for healthy populations. Hum Genet. 2022 Nov 04. PMID: 36331656; PMCID: PMC9638226.
    Citations:    Fields:    
  3. Bhat V, Adzhubei IA, Fife JD, Lebo M, Cassa CA. Informing variant assessment using structured evidence from prior classifications (PS1, PM5, and PVS1 sequence variant interpretation criteria). Genet Med. 2023 Jan; 25(1):16-26. PMID: 36305854.
    Citations:    Fields:    Translation:HumansCells
  4. Lewis ACF, Perez EF, Prince AER, Flaxman HR, Gomez L, Brockman DG, Chandler PD, Kerman BJ, Lebo MS, Smoller JW, Weiss ST, Blout Zawatksy CL, Meigs JB, Green RC, Vassy JL, Karlson EW. Patient and provider perspectives on polygenic risk scores: implications for clinical reporting and utilization. Genome Med. 2022 10 07; 14(1):114. PMID: 36207733; PMCID: PMC9540716.
    Citations:    Fields:    Translation:Humans
  5. Frangione E, Chung M, Casalino S, MacDonald G, Chowdhary S, Mighton C, Faghfoury H, Bombard Y, Strug L, Pugh T, Simpson J, Hao L, Lebo M, Lane WJ, Taher J, Lerner-Ellis J. Genome Reporting for Healthy Populations-Pipeline for Genomic Screening from the GENCOV COVID-19 Study. Curr Protoc. 2022 Oct; 2(10):e534. PMID: 36205462.
    Citations:    Fields:    Translation:HumansCells
  6. Boutin NT, Schecter SB, Perez EF, Tchamitchian NS, Cerretani XR, Gainer VS, Lebo MS, Mahanta LM, Karlson EW, Smoller JW. The Evolution of a Large Biobank at Mass General Brigham. J Pers Med. 2022 Aug 17; 12(8). PMID: 36013271.
    Citations: 1     
  7. Patel AP, Dron JS, Wang M, Pirruccello JP, Ng K, Natarajan P, Lebo M, Ellinor PT, Aragam KG, Khera AV. Association of Pathogenic DNA Variants Predisposing to Cardiomyopathy With Cardiovascular Disease Outcomes and All-Cause Mortality. JAMA Cardiol. 2022 07 01; 7(7):723-732. PMID: 35544052; PMCID: PMC9096692.
    Citations:    Fields:    Translation:Humans
  8. Ge T, Irvin MR, Patki A, Srinivasasainagendra V, Lin YF, Tiwari HK, Armstrong ND, Benoit B, Chen CY, Choi KW, Cimino JJ, Davis BH, Dikilitas O, Etheridge B, Feng YA, Gainer V, Huang H, Jarvik GP, Kachulis C, Kenny EE, Khan A, Kiryluk K, Kottyan L, Kullo IJ, Lange C, Lennon N, Leong A, Malolepsza E, Miles AD, Murphy S, Namjou B, Narayan R, O'Connor MJ, Pacheco JA, Perez E, Rasmussen-Torvik LJ, Rosenthal EA, Schaid D, Stamou M, Udler MS, Wei WQ, Weiss ST, Ng MCY, Smoller JW, Lebo MS, Meigs JB, Limdi NA, Karlson EW. Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations. Genome Med. 2022 06 29; 14(1):70. PMID: 35765100; PMCID: PMC9241245.
    Citations:    Fields:    Translation:Humans
  9. Hao L, Kraft P, Berriz GF, Hynes ED, Koch C, Korategere V Kumar P, Parpattedar SS, Steeves M, Yu W, Antwi AA, Brunette CA, Danowski M, Gala MK, Green RC, Jones NE, Lewis ACF, Lubitz SA, Natarajan P, Vassy JL, Lebo MS. Development of a clinical polygenic risk score assay and reporting workflow. Nat Med. 2022 05; 28(5):1006-1013. PMID: 35437332; PMCID: PMC9117136.
    Citations:    Fields:    Translation:Humans
  10. Klanderman BJ, Koch C, Machini K, Parpattedar SS, Bandyadka S, Lin CF, Hynes E, Lebo MS, Amr SS. Automated Pharmacogenomic Reports for Clinical Genome Sequencing. J Mol Diagn. 2022 03; 24(3):205-218. PMID: 35041930.
    Citations: 1     Fields:    Translation:Humans
  11. Harrison SM, Austin-Tse CA, Kim S, Lebo M, Leon A, Murdock D, Radhakrishnan A, Shirts BH, Steeves M, Venner E, Gibbs RA, Jarvik GP, Rehm HL. Harmonizing variant classification for return of results in the All of Us Research Program. Hum Mutat. 2022 08; 43(8):1114-1121. PMID: 34923710; PMCID: PMC9206690.
    Citations:    Fields:    Translation:Humans
  12. Buchanan AH, Manickam K, Meyer MN, Wagner JK, Hallquist MLG, Williams JL, Rahm AK, Williams MS, Chen ZE, Shah CK, Garg TK, Lazzeri AL, Schwartz MLB, Lindbuchler AM, Fan AL, Leeming R, Servano PO, Smith AL, Vogel VG, Abul-Husn NS, Dewey FE, Lebo MS, Mason-Suares HM, Ritchie MD, Davis FD, Carey DJ, Feinberg DT, Faucett WA, Ledbetter DH, Murray MF. Correction to: Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants. Genet Med. 2021 Dec; 23(12):2470. PMID: 34646007; PMCID: PMC9119243.
    Citations:    Fields:    
  13. Zouk H, Yu W, Oza A, Hawley M, Vijay Kumar PK, Koch C, Mahanta LM, Harley JB, Jarvik GP, Karlson EW, Leppig KA, Myers MF, Prows CA, Williams MS, Weiss ST, Lebo MS, Rehm HL. Reanalysis of eMERGE phase III sequence variants in 10,500 participants and infrastructure to support the automated return of knowledge updates. Genet Med. 2022 02; 24(2):454-462. PMID: 34906510.
    Citations:    Fields:    Translation:Humans
  14. Blout Zawatsky CL, Shah N, Machini K, Perez E, Christensen KD, Zouk H, Steeves M, Koch C, Uveges M, Shea J, Gold N, Krier J, Boutin N, Mahanta L, Rehm HL, Weiss ST, Karlson EW, Smoller JW, Lebo MS, Green RC. Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization. Am J Hum Genet. 2021 12 02; 108(12):2224-2237. PMID: 34752750; PMCID: PMC8715145.
    Citations: 1     Fields:    Translation:Humans
  15. Lazo de la Vega L, Yu W, Machini K, Austin-Tse CA, Hao L, Blout Zawatsky CL, Mason-Suares H, Green RC, Rehm HL, Lebo MS. A framework for automated gene selection in genomic applications. Genet Med. 2021 10; 23(10):1993-1997. PMID: 34113001; PMCID: PMC8487927.
    Citations:    Fields:    Translation:Humans
  16. Zekavat SM, Lin SH, Bick AG, Liu A, Paruchuri K, Wang C, Uddin MM, Ye Y, Yu Z, Liu X, Kamatani Y, Bhattacharya R, Pirruccello JP, Pampana A, Loh PR, Kohli P, McCarroll SA, Kiryluk K, Neale B, Ionita-Laza I, Engels EA, Brown DW, Smoller JW, Green R, Karlson EW, Lebo M, Ellinor PT, Weiss ST, Daly MJ, Terao C, Zhao H, Ebert BL, Reilly MP, Ganna A, Machiela MJ, Genovese G, Natarajan P. Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection. Nat Med. 2021 06; 27(6):1012-1024. PMID: 34099924; PMCID: PMC8245201.
    Citations: 14     Fields:    Translation:Humans
  17. Brockman DG, Austin-Tse CA, Pelletier RC, Harley C, Patterson C, Head H, Leonard CE, O'Brien K, Mahanta LM, Lebo MS, Lu CY, Natarajan P, Khera AV, Aragam KG, Kathiresan S, Rehm HL, Udler MS. Randomized prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test. Genet Med. 2021 09; 23(9):1689-1696. PMID: 33976420; PMCID: PMC8488861.
    Citations: 1     Fields:    Translation:Humans
  18. Mighton C, Smith AC, Mayers J, Tomaszewski R, Taylor S, Hume S, Agatep R, Spriggs E, Feilotter HE, Semenuk L, Wong H, Lazo de la Vega L, Marshall CR, Axford MM, Silver T, Charames GS, Di Gioacchino V, Watkins N, Foulkes WD, Clavier M, Hamel N, Chong G, Lamont RE, Parboosingh J, Karsan A, Bosdet I, Young SS, Tucker T, Akbari MR, Speevak MD, Vaags AK, Lebo MS, Lerner-Ellis J. Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository. J Med Genet. 2022 06; 59(6):571-578. PMID: 33875564; PMCID: PMC8523590.
    Citations: 3     Fields:    Translation:Humans
  19. Wojcik MH, Zhang T, Ceyhan-Birsoy O, Genetti CA, Lebo MS, Yu TW, Parad RB, Holm IA, Rehm HL, Beggs AH, Green RC, Agrawal PB. Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project. Genet Med. 2021 07; 23(7):1372-1375. PMID: 33772220; PMCID: PMC8263473.
    Citations: 11     Fields:    Translation:HumansPHPublic Health
  20. Morales A, Ing A, Antolik C, Austin-Tse C, Baudhuin LM, Bronicki L, Cirino A, Hawley MH, Fietz M, Garcia J, Ho C, Ingles J, Jarinova O, Johnston T, Kelly MA, Kurtz CL, Lebo M, Macaya D, Mahanta L, Maleszewski J, Manrai AK, Murray M, Richard G, Semsarian C, Thomson KL, Winder T, Ware JS, Hershberger RE, Funke BH, Vatta M. Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel. J Mol Diagn. 2021 05; 23(5):589-598. PMID: 33631351.
    Citations:    Fields:    Translation:Humans
  21. Natarajan P, Zekavat S, Lin SH, Bick A, Liu A, Paruchuri K, Uddin MM, Ye Y, Yu Z, Liu X, Kamatani Y, Pirruccello J, Pampana A, Loh PR, Kohli P, McCarroll S, Neale B, Engels E, Brown D, Smoller J, Green R, Karlson E, Lebo M, Ellinor P, Weiss S, Daly M, Terao C, Zhao H, Ebert B, Machiela M, Genovese G. Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer. Res Sq. 2020 Nov 16. PMID: 33236004; PMCID: PMC7685327.
    Citations:    
  22. Zekavat SM, Lin SH, Bick AG, Liu A, Paruchuri K, Uddin MM, Ye Y, Yu Z, Liu X, Kamatani Y, Pirruccello JP, Pampana A, Loh PR, Kohli P, McCarroll SA, Neale B, Engels EA, Brown DW, Smoller JW, Green R, Karlson EW, Lebo M, Ellinor PT, Weiss ST, Daly MJ, Terao C, Zhao H, Ebert BL, Ganna A, Machiela MJ, Genovese G, Natarajan P. Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer. medRxiv. 2020 Nov 16. PMID: 33236019.
    Citations:    
  23. Marshall CR, Chowdhury S, Taft RJ, Lebo MS, Buchan JG, Harrison SM, Rowsey R, Klee EW, Liu P, Worthey EA, Jobanputra V, Dimmock D, Kearney HM, Bick D, Kulkarni S, Taylor SL, Belmont JW, Stavropoulos DJ, Lennon NJ. Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease. NPJ Genom Med. 2020; 5:47. PMID: 33110627.
    Citations: 18     
  24. Fahed AC, Wang M, Homburger JR, Patel AP, Bick AG, Neben CL, Lai C, Brockman D, Philippakis A, Ellinor PT, Cassa CA, Lebo M, Ng K, Lander ES, Zhou AY, Kathiresan S, Khera AV. Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions. Nat Commun. 2020 08 20; 11(1):3635. PMID: 32820175; PMCID: PMC7441381.
    Citations: 62     Fields:    Translation:Humans
  25. Hawley MH, Almontashiri N, Biesecker LG, Berger N, Chung WK, Garcia J, Grebe TA, Kelly MA, Lebo MS, Macaya D, Mei H, Platt J, Richard G, Ryan A, Thomson KL, Vatta M, Walsh R, Ware JS, Wheeler M, Zouk H, Mason-Suares H, Funke B. An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy. Hum Mutat. 2020 09; 41(9):1577-1587. PMID: 32516855; PMCID: PMC7714388.
    Citations: 2     Fields:    Translation:Humans
  26. Halls JBL, Vege S, Simmons DP, Aeschlimann J, Bujiriri B, Mah HH, Lebo MS, Vijay Kumar PK, Westhoff CM, Lane WJ. Overcoming the challenges of interpreting complex and uncommon RH alleles from whole genomes. Vox Sang. 2020 Nov; 115(8):790-801. PMID: 32567058.
    Citations: 2     Fields:    Translation:Humans
  27. Lebo MS, Hao L, Lin CF, Singh A. Bioinformatics in Clinical Genomic Sequencing. Clin Lab Med. 2020 06; 40(2):163-187. PMID: 32439067.
    Citations:    Fields:    Translation:Humans
  28. Lane WJ, Gleadall NS, Aeschlimann J, Vege S, Sanchis-Juan A, Stephens J, Sullivan JC, Mah HH, Aguad M, Smeland-Wagman R, Lebo MS, Vijay Kumar PK, Kaufman RM, Green RC, Ouwehand WH, Westhoff CM. Multiple GYPB gene deletions associated with the U- phenotype in those of African ancestry. Transfusion. 2020 06; 60(6):1294-1307. PMID: 32473076.
    Citations:    Fields:    Translation:Humans
  29. Patel AP, Wang M, Fahed AC, Mason-Suares H, Brockman D, Pelletier R, Amr S, Machini K, Hawley M, Witkowski L, Koch C, Philippakis A, Cassa CA, Ellinor PT, Kathiresan S, Ng K, Lebo M, Khera AV. Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History. JAMA Netw Open. 2020 04 01; 3(4):e203959. PMID: 32347951.
    Citations: 21     Fields:    Translation:Humans
  30. Hagenkord J, Funke B, Qian E, Hegde M, Jacobs KB, Ferber M, Lebo M, Buchanan A, Bick D. Design and Reporting Considerations for Genetic Screening Tests. J Mol Diagn. 2020 05; 22(5):599-609. PMID: 32092541.
    Citations: 5     Fields:    Translation:HumansPHPublic Health
  31. Khera AV, Mason-Suares H, Brockman D, Wang M, VanDenburgh MJ, Senol-Cosar O, Patterson C, Newton-Cheh C, Zekavat SM, Pester J, Chasman DI, Kabrhel C, Jensen MK, Manson JE, Gaziano JM, Taylor KD, Sotoodehnia N, Post WS, Rich SS, Rotter JI, Lander ES, Rehm HL, Ng K, Philippakis A, Lebo M, Albert CM, Kathiresan S. Rare Genetic Variants Associated With Sudden Cardiac Death in Adults. J Am Coll Cardiol. 2019 11 26; 74(21):2623-2634. PMID: 31727422; PMCID: PMC7067308.
    Citations: 13     Fields:    Translation:Humans
  32. Mighton C, Charames GS, Wang M, Zakoor KR, Wong A, Shickh S, Watkins N, Lebo MS, Bombard Y, Lerner-Ellis J. Correction: Variant classification changes over time in BRCA1 and BRCA2. Genet Med. 2019 Oct; 21(10):2406-2407. PMID: 31043710.
    Citations: 1     Fields:    
  33. Lane WJ, Vege S, Mah HH, Lomas-Francis C, Aguad M, Smeland-Wagman R, Koch C, Killian JM, Gardner CL, De Castro M, Lebo MS, Kaufman RM, Green RC, Westhoff CM. Automated typing of red blood cell and platelet antigens from whole exome sequences. Transfusion. 2019 10; 59(10):3253-3263. PMID: 31392742.
    Citations: 6     Fields:    Translation:HumansCellsCTClinical Trials
  34. Machini K, Ceyhan-Birsoy O, Azzariti DR, Sharma H, Rossetti P, Mahanta L, Hutchinson L, McLaughlin H, Green RC, Lebo M, Rehm HL. Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project. Am J Hum Genet. 2019 07 03; 105(1):177-188. PMID: 31256874.
    Citations: 13     Fields:    Translation:Humans
  35. Evans P, Wu C, Lindy A, McKnight DA, Lebo M, Sarmady M, Abou Tayoun AN. Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing data sets. Genome Res. 2019 07; 29(7):1144-1151. PMID: 31235655; PMCID: PMC6633260.
    Citations: 5     Fields:    Translation:Humans
  36. Senol-Cosar O, Schmidt RJ, Qian E, Hoskinson D, Mason-Suares H, Funke B, Lebo MS. Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk. Genet Med. 2019 12; 21(12):2765-2773. PMID: 31147632.
    Citations: 5     Fields:    Translation:Humans
  37. Khera AV, Chaffin M, Wade KH, Zahid S, Brancale J, Xia R, Distefano M, Senol-Cosar O, Haas ME, Bick A, Aragam KG, Lander ES, Smith GD, Mason-Suares H, Fornage M, Lebo M, Timpson NJ, Kaplan LM, Kathiresan S. Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood. Cell. 2019 04 18; 177(3):587-596.e9. PMID: 31002795; PMCID: PMC6661115.
    Citations: 153     Fields:    Translation:Humans
  38. Mighton C, Charames GS, Wang M, Zakoor KR, Wong A, Shickh S, Watkins N, Lebo MS, Bombard Y, Lerner-Ellis J. Variant classification changes over time in BRCA1 and BRCA2. Genet Med. 2019 10; 21(10):2248-2254. PMID: 30971832.
    Citations: 10     Fields:    Translation:Humans
  39. Lincoln SE, Truty R, Lin CF, Zook JM, Paul J, Ramey VH, Salit M, Rehm HL, Nussbaum RL, Lebo MS. A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing-Detected Variants with an Orthogonal Method in Clinical Genetic Testing. J Mol Diagn. 2019 03; 21(2):318-329. PMID: 30610921.
    Citations: 16     Fields:    Translation:Humans
  40. Ceyhan-Birsoy O, Murry JB, Machini K, Lebo MS, Yu TW, Fayer S, Genetti CA, Schwartz TS, Agrawal PB, Parad RB, Holm IA, McGuire AL, Green RC, Rehm HL, Beggs AH. Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project. Am J Hum Genet. 2019 01 03; 104(1):76-93. PMID: 30609409; PMCID: PMC6323417.
    Citations: 50     Fields:    Translation:Humans
  41. Santani A, Simen BB, Briggs M, Lebo M, Merker JD, Nikiforova M, Vasalos P, Voelkerding K, Pfeifer J, Funke B. Designing and Implementing NGS Tests for Inherited Disorders: A Practical Framework with Step-by-Step Guidance for Clinical Laboratories. J Mol Diagn. 2019 05; 21(3):369-374. PMID: 30605766.
    Citations: 5     Fields:    Translation:Humans
  42. Lane WJ, Aguad M, Smeland-Wagman R, Vege S, Mah HH, Joseph A, Blout CL, Nguyen TT, Lebo MS, Sidhu M, Lomas-Francis C, Kaufman RM, Green RC, Westhoff CM. A whole genome approach for discovering the genetic basis of blood group antigens: independent confirmation for P1 and Xga. Transfusion. 2019 03; 59(3):908-915. PMID: 30592300; PMCID: PMC6402986.
    Citations: 4     Fields:    Translation:Humans
  43. Stanaway IB, Hall TO, Rosenthal EA, Palmer M, Naranbhai V, Knevel R, Namjou-Khales B, Carroll RJ, Kiryluk K, Gordon AS, Linder J, Howell KM, Mapes BM, Lin FTJ, Joo YY, Hayes MG, Gharavi AG, Pendergrass SA, Ritchie MD, de Andrade M, Croteau-Chonka DC, Raychaudhuri S, Weiss ST, Lebo M, Amr SS, Carrell D, Larson EB, Chute CG, Rasmussen-Torvik LJ, Roy-Puckelwartz MJ, Sleiman P, Hakonarson H, Li R, Karlson EW, Peterson JF, Kullo IJ, Chisholm R, Denny JC, Jarvik GP, Crosslin DR. The eMERGE genotype set of 83,717 subjects imputed to ~40?million variants genome wide and association with the herpes zoster medical record phenotype. Genet Epidemiol. 2019 02; 43(1):63-81. PMID: 30298529; PMCID: PMC6375696.
    Citations: 26     Fields:    Translation:HumansCells
  44. Manickam K, Buchanan AH, Schwartz MLB, Hallquist MLG, Williams JL, Rahm AK, Rocha H, Savatt JM, Evans AE, Butry LM, Lazzeri AL, Lindbuchler DM, Flansburg CN, Leeming R, Vogel VG, Lebo MS, Mason-Suares HM, Hoskinson DC, Abul-Husn NS, Dewey FE, Overton JD, Reid JG, Baras A, Willard HF, McCormick CZ, Krishnamurthy SB, Hartzel DN, Kost KA, Lavage DR, Sturm AC, Frisbie LR, Person TN, Metpally RP, Giovanni MA, Lowry LE, Leader JB, Ritchie MD, Carey DJ, Justice AE, Kirchner HL, Faucett WA, Williams MS, Ledbetter DH, Murray MF. Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants. JAMA Netw Open. 2018 09 07; 1(5):e182140. PMID: 30646163; PMCID: PMC6324494.
    Citations: 58     Fields:    Translation:Humans
  45. Schwartz MLB, McCormick CZ, Lazzeri AL, Lindbuchler DM, Hallquist MLG, Manickam K, Buchanan AH, Rahm AK, Giovanni MA, Frisbie L, Flansburg CN, Davis FD, Sturm AC, Nicastro C, Lebo MS, Mason-Suares H, Mahanta LM, Carey DJ, Williams JL, Williams MS, Ledbetter DH, Faucett WA, Murray MF. A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort. Am J Hum Genet. 2018 09 06; 103(3):328-337. PMID: 30100086; PMCID: PMC6128218.
    Citations: 57     Fields:    Translation:Humans
  46. Murry JB, Machini K, Ceyhan-Birsoy O, Kritzer A, Krier JB, Lebo MS, Fayer S, Genetti CA, VanNoy GE, Yu TW, Agrawal PB, Parad RB, Holm IA, McGuire AL, Green RC, Beggs AH, Rehm HL. Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report. Cold Spring Harb Mol Case Stud. 2018 08; 4(4). PMID: 29728376.
    Citations: 3     Fields:    Translation:HumansCellsPHPublic Health
  47. Lane WJ, Westhoff CM, Gleadall NS, Aguad M, Smeland-Wagman R, Vege S, Simmons DP, Mah HH, Lebo MS, Walter K, Soranzo N, Di Angelantonio E, Danesh J, Roberts DJ, Watkins NA, Ouwehand WH, Butterworth AS, Kaufman RM, Rehm HL, Silberstein LE, Green RC. Automated typing of red blood cell and platelet antigens: a whole-genome sequencing study. Lancet Haematol. 2018 Jun; 5(6):e241-e251. PMID: 29780001; PMCID: PMC6438177.
    Citations: 14     Fields:    Translation:HumansCells
  48. Sanghvi RV, Buhay CJ, Powell BC, Tsai EA, Dorschner MO, Hong CS, Lebo MS, Sasson A, Hanna DS, McGee S, Bowling KM, Cooper GM, Gray DE, Lonigro RJ, Dunford A, Brennan CA, Cibulskis C, Walker K, Carneiro MO, Sailsbery J, Hindorff LA, Robinson DR, Santani A, Sarmady M, Rehm HL, Biesecker LG, Nickerson DA, Hutter CM, Garraway L, Muzny DM, Wagle N. Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers. Genet Med. 2018 08; 20(8):855-866. PMID: 29144510; PMCID: PMC6456263.
    Citations: 9     Fields:    Translation:HumansCells
  49. Buchanan AH, Manickam K, Meyer MN, Wagner JK, Hallquist MLG, Williams JL, Rahm AK, Williams MS, Chen ZE, Shah CK, Garg TK, Lazzeri AL, Schwartz MLB, Lindbuchler DM, Fan AL, Leeming R, Servano PO, Smith AL, Vogel VG, Abul-Husn NS, Dewey FE, Lebo MS, Mason-Suares HM, Ritchie MD, Davis FD, Carey DJ, Feinberg DT, Faucett WA, Ledbetter DH, Murray MF. Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants. Genet Med. 2018 04; 20(5):554-558. PMID: 29261187; PMCID: PMC5930270.
    Citations: 22     Fields:    Translation:Humans
  50. Cirino AL, Lakdawala NK, McDonough B, Conner L, Adler D, Weinfeld M, O'Gara P, Rehm HL, Machini K, Lebo M, Blout C, Green RC, MacRae CA, Seidman CE, Ho CY. A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients. Circ Cardiovasc Genet. 2017 Oct; 10(5). PMID: 29030401; PMCID: PMC5683423.
    Citations: 29     Fields:    Translation:HumansCells
  51. Lebo MS, Zakoor KR, Chun K, Speevak MD, Waye JS, McCready E, Parboosingh JS, Lamont RE, Feilotter H, Bosdet I, Tucker T, Young S, Karsan A, Charames GS, Agatep R, Spriggs EL, Chisholm C, Vasli N, Daoud H, Jarinova O, Tomaszewski R, Hume S, Taylor S, Akbari MR, Lerner-Ellis J. Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR). Genet Med. 2018 03; 20(3):294-302. PMID: 28726806.
    Citations: 11     Fields:    Translation:Humans
  52. Vassy JL, Christensen KD, Schonman EF, Blout CL, Robinson JO, Krier JB, Diamond PM, Lebo M, Machini K, Azzariti DR, Dukhovny D, Bates DW, MacRae CA, Murray MF, Rehm HL, McGuire AL, Green RC. The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial. Ann Intern Med. 2017 08 01; 167(3):159-169. PMID: 28654958; PMCID: PMC5856654.
    Citations: 66     Fields:    Translation:Humans
  53. Haggerty CM, James CA, Calkins H, Tichnell C, Leader JB, Hartzel DN, Nevius CD, Pendergrass SA, Person TN, Schwartz M, Ritchie MD, Carey DJ, Ledbetter DH, Williams MS, Dewey FE, Lopez A, Penn J, Overton JD, Reid JG, Lebo M, Mason-Suares H, Austin-Tse C, Rehm HL, Delisle BP, Makowski DJ, Mehra VC, Murray MF, Fornwalt BK. Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing. Genet Med. 2017 11; 19(11):1245-1252. PMID: 28471438; PMCID: PMC5671380.
    Citations: 16     Fields:    Translation:Humans
  54. Mason-Suares H, Toledo D, Gekas J, Lafferty KA, Meeks N, Pacheco MC, Sharpe D, Mullen TE, Lebo MS. Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome. Eur J Hum Genet. 2017 04; 25(4):509-511. PMID: 28098151; PMCID: PMC5386422.
    Citations: 4     Fields:    Translation:Humans
  55. Ceyhan-Birsoy O, Machini K, Lebo MS, Yu TW, Agrawal PB, Parad RB, Holm IA, McGuire A, Green RC, Beggs AH, Rehm HL. A curated gene list for reporting results of newborn genomic sequencing. Genet Med. 2017 07; 19(7):809-818. PMID: 28079900; PMCID: PMC5507765.
    Citations: 34     Fields:    Translation:HumansCells
  56. Dewey FE, Murray MF, Overton JD, Habegger L, Leader JB, Fetterolf SN, O'Dushlaine C, Van Hout CV, Staples J, Gonzaga-Jauregui C, Metpally R, Pendergrass SA, Giovanni MA, Kirchner HL, Balasubramanian S, Abul-Husn NS, Hartzel DN, Lavage DR, Kost KA, Packer JS, Lopez AE, Penn J, Mukherjee S, Gosalia N, Kanagaraj M, Li AH, Mitnaul LJ, Adams LJ, Person TN, Praveen K, Marcketta A, Lebo MS, Austin-Tse CA, Mason-Suares HM, Bruse S, Mellis S, Phillips R, Stahl N, Murphy A, Economides A, Skelding KA, Still CD, Elmore JR, Borecki IB, Yancopoulos GD, Davis FD, Faucett WA, Gottesman O, Ritchie MD, Shuldiner AR, Reid JG, Ledbetter DH, Baras A, Carey DJ. Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study. Science. 2016 Dec 23; 354(6319). PMID: 28008009.
    Citations: 211     Fields:    Translation:Humans
  57. Amr SS, Al Turki SH, Lebo M, Sarmady M, Rehm HL, Abou Tayoun AN. Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation. Genet Med. 2017 05; 19(5):496-504. PMID: 27657688.
    Citations: 9     Fields:    Translation:Humans
  58. Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, Berg JS, Biswas S, Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R, Green RC, Hart R, Horton C, Johnston JJ, Lebo MS, Milosavljevic A, Ou J, Pak CM, Patel RY, Punj S, Richards CS, Salama J, Strande NT, Yang Y, Plon SE, Biesecker LG, Rehm HL. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. Am J Hum Genet. 2016 07 07; 99(1):247. PMID: 27392081.
    Citations: 51     Fields:    
  59. Mandelker D, Schmidt RJ, Ankala A, McDonald Gibson K, Bowser M, Sharma H, Duffy E, Hegde M, Santani A, Lebo M, Funke B. Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing. Genet Med. 2016 12; 18(12):1282-1289. PMID: 27228465.
    Citations: 59     Fields:    Translation:Humans
  60. Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, Berg JS, Biswas S, Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R, Green RC, Hart R, Horton C, Johnston JJ, Lebo MS, Milosavljevic A, Ou J, Pak CM, Patel RY, Punj S, Richards CS, Salama J, Strande NT, Yang Y, Plon SE, Biesecker LG, Rehm HL. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. Am J Hum Genet. 2016 06 02; 98(6):1067-1076. PMID: 27181684.
    Citations: 172     Fields:    Translation:Humans
  61. Hakami F, Dillon MW, Lebo M, Mason-Suares H. Retrospective study of prenatal ultrasound findings in newborns with a Noonan spectrum disorder. Prenat Diagn. 2016 May; 36(5):418-23. PMID: 26918529.
    Citations: 5     Fields:    Translation:Humans
  62. Tsai EA, Shakbatyan R, Evans J, Rossetti P, Graham C, Sharma H, Lin CF, Lebo MS. Bioinformatics Workflow for Clinical Whole Genome Sequencing at Partners HealthCare Personalized Medicine. J Pers Med. 2016 Feb 27; 6(1). PMID: 26927186; PMCID: PMC4810391.
    Citations: 9     
  63. Lebo MS, Sutti S, Green RC. "Big Data" Gets Personal. Sci Transl Med. 2016 Jan 20; 8(322):322fs3-3fs3. PMID: 26791946.
    Citations: 1     Fields:    
  64. Aronson S, Mahanta L, Ros LL, Clark E, Babb L, Oates M, Rehm H, Lebo M. Information Technology Support for Clinical Genetic Testing within an Academic Medical Center. J Pers Med. 2016 Jan 20; 6(1). PMID: 26805890; PMCID: PMC4810383.
    Citations: 6     
  65. Pugh TJ, Amr SS, Bowser MJ, Gowrisankar S, Hynes E, Mahanta LM, Rehm HL, Funke B, Lebo MS. VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data. Genet Med. 2016 07; 18(7):712-9. PMID: 26681316; PMCID: PMC4940431.
    Citations: 30     Fields:    Translation:Humans
  66. Ceyhan-Birsoy O, Pugh TJ, Bowser MJ, Hynes E, Frisella AL, Mahanta LM, Lebo MS, Amr SS, Funke BH. Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies. Mol Genet Genomic Med. 2016 Mar; 4(2):143-51. PMID: 27066507; PMCID: PMC4799872.
    Citations: 12     Fields:    
  67. Chopra SS, Leshchiner I, Duzkale H, McLaughlin H, Giovanni M, Zhang C, Stitziel N, Fingeroth J, Joyce RM, Lebo M, Rehm H, Vuzman D, Maas R, Sunyaev SR, Murray M, Cassa CA. Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease. Mol Genet Genomic Med. 2015 Sep; 3(5):413-23. PMID: 26436107.
    Citations: 6     Fields:    
  68. Lerner-Ellis J, Wang M, White S, Lebo MS. Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations. J Med Genet. 2015 Jul; 52(7):438-45. PMID: 25904639; PMCID: PMC4501169.
    Citations: 9     Fields:    Translation:Humans
  69. Alfares AA, Kelly MA, McDermott G, Funke BH, Lebo MS, Baxter SB, Shen J, McLaughlin HM, Clark EH, Babb LJ, Cox SW, DePalma SR, Ho CY, Seidman JG, Seidman CE, Rehm HL. CORRIGENDUM: Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. Genet Med. 2015 Apr; 17(4):319. PMID: 25835197.
    Citations: 7     Fields:    
  70. Alfares AA, Kelly MA, McDermott G, Funke BH, Lebo MS, Baxter SB, Shen J, McLaughlin HM, Clark EH, Babb LJ, Cox SW, DePalma SR, Ho CY, Seidman JG, Seidman CE, Rehm HL. Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. Genet Med. 2015 Nov; 17(11):880-8. PMID: 25611685.
    Citations: 148     Fields:    Translation:Humans
  71. McLaughlin HM, Ceyhan-Birsoy O, Christensen KD, Kohane IS, Krier J, Lane WJ, Lautenbach D, Lebo MS, Machini K, MacRae CA, Azzariti DR, Murray MF, Seidman CE, Vassy JL, Green RC, Rehm HL. A systematic approach to the reporting of medically relevant findings from whole genome sequencing. BMC Med Genet. 2014 Dec 14; 15:134. PMID: 25714468; PMCID: PMC4342199.
    Citations: 47     Fields:    Translation:Humans
  72. Mandelker D, Lee RE, Platt MY, Riedlinger G, Quinn A, Rao LK, Klepeis VE, Mahowald M, Lane WJ, Beckwith BA, Baron JM, McClintock DS, Kuo FC, Lebo MS, Gilbertson JR. Pathology informatics fellowship training: Focus on molecular pathology. J Pathol Inform. 2014; 5(1):11. PMID: 24843823; PMCID: PMC4023031.
    Citations: 4     
  73. Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzynski P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovrecic L, Palandacic A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, San Lucas FA, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, González-Lamuño D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon PM, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol. 2014 Mar 25; 15(3):R53. PMID: 24667040.
    Citations: 53     Fields:    Translation:Humans
  74. Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, Bowser M, Harrison B, Aaron D, Mahanta LM, Lakdawala NK, McDermott G, White ET, Rehm HL, Lebo M, Funke BH. The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med. 2014 Aug; 16(8):601-8. PMID: 24503780.
    Citations: 121     Fields:    Translation:Humans
  75. Lebo MS, Baxter SM. New molecular genetic tests in the diagnosis of heart disease. Clin Lab Med. 2014 Mar; 34(1):137-56, vii-viii. PMID: 24507793.
    Citations: 3     Fields:    Translation:Humans
  76. Gowrisankar S, Lebo MS. Designing algorithms for determining significance of DNA missense changes. Methods Mol Biol. 2014; 1168:251-62. PMID: 24870140.
    Citations:    Fields:    Translation:Humans
  77. Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS. A systematic approach to assessing the clinical significance of genetic variants. Clin Genet. 2013 Nov; 84(5):453-63. PMID: 24033266.
    Citations: 78     Fields:    Translation:HumansCells
  78. Tarczy-Hornoch P, Amendola L, Aronson SJ, Garraway L, Gray S, Grundmeier RW, Hindorff LA, Jarvik G, Karavite D, Lebo M, Plon SE, Van Allen E, Weck KE, White PS, Yang Y. A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record. Genet Med. 2013 Oct; 15(10):824-32. PMID: 24071794; PMCID: PMC3951437.
    Citations: 41     Fields:    Translation:Humans
  79. Cooley LD, Lebo M, Li MM, Slovak ML, Wolff DJ. American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for chromosome abnormalities in neoplastic disorders. Genet Med. 2013 Jun; 15(6):484-94. PMID: 23619274.
    Citations: 16     Fields:    Translation:Humans
  80. Coste B, Houge G, Murray MF, Stitziel N, Bandell M, Giovanni MA, Philippakis A, Hoischen A, Riemer G, Steen U, Steen VM, Mathur J, Cox J, Lebo M, Rehm H, Weiss ST, Wood JN, Maas RL, Sunyaev SR, Patapoutian A. Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. Proc Natl Acad Sci U S A. 2013 Mar 19; 110(12):4667-72. PMID: 23487782; PMCID: PMC3607045.
    Citations: 88     Fields:    Translation:HumansCells
  81. Leo A, Walker AM, Lebo MS, Hendrickson B, Scholl T, Akmaev VR. A GC-wave correction algorithm that improves the analytical performance of aCGH. J Mol Diagn. 2012 Nov; 14(6):550-9. PMID: 22922130.
    Citations: 5     Fields:    Translation:Humans
  82. Jordan DM, Kiezun A, Baxter SM, Agarwala V, Green RC, Murray MF, Pugh T, Lebo MS, Rehm HL, Funke BH, Sunyaev SR. Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. Am J Hum Genet. 2011 Feb 11; 88(2):183-92. PMID: 21310275.
    Citations: 35     Fields:    Translation:Humans
  83. Dalton JE, Kacheria TS, Knott SR, Lebo MS, Nishitani A, Sanders LE, Stirling EJ, Winbush A, Arbeitman MN. Dynamic, mating-induced gene expression changes in female head and brain tissues of Drosophila melanogaster. BMC Genomics. 2010 Oct 06; 11:541. PMID: 20925960.
    Citations: 31     Fields:    Translation:Animals
  84. Dalton JE, Lebo MS, Sanders LE, Sun F, Arbeitman MN. Ecdysone receptor acts in fruitless- expressing neurons to mediate drosophila courtship behaviors. Curr Biol. 2009 Sep 15; 19(17):1447-52. PMID: 19646872.
    Citations: 30     Fields:    Translation:AnimalsCells
  85. Lebo MS, Sanders LE, Sun F, Arbeitman MN. Somatic, germline and sex hierarchy regulated gene expression during Drosophila metamorphosis. BMC Genomics. 2009 Feb 13; 10:80. PMID: 19216785.
    Citations: 34     Fields:    Translation:Animals
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.