Harvard Catalyst Profiles

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Kalotina Machini, Ph.D.

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selected publications
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. 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: 2     Fields:    Translation:Humans
  2. 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: 9     Fields:    Translation:Humans
  3. 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
  4. 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: 30     Fields:    Translation:Humans
  5. 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: 16     Fields:    Translation:Humans
  6. 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: 68     Fields:    Translation:Humans
  7. 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: 4     Fields:    Translation:HumansCellsPHPublic Health
  8. Christensen KD, Vassy JL, Phillips KA, Blout CL, Azzariti DR, Lu CY, Robinson JO, Lee K, Douglas MP, Yeh JM, Machini K, Stout NK, Rehm HL, McGuire AL, Green RC, Dukhovny D. Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial. Genet Med. 2018 12; 20(12):1544-1553. PMID: 29565423; PMCID: PMC6151171.
    Citations: 12     Fields:    Translation:Humans
  9. Christensen KD, Bernhardt BA, Jarvik GP, Hindorff LA, Ou J, Biswas S, Powell BC, Grundmeier RW, Machini K, Karavite DJ, Pennington JW, Krantz ID, Berg JS, Goddard KAB. Anticipated responses of early adopter genetic specialists and nongenetic specialists to unsolicited genomic secondary findings. Genet Med. 2018 10; 20(10):1186-1195. PMID: 29388940; PMCID: PMC6103906.
    Citations: 7     Fields:    Translation:Humans
  10. 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: 31     Fields:    Translation:HumansCells
  11. 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: 74     Fields:    Translation:Humans
  12. 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: 42     Fields:    Translation:HumansCells
  13. Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, Abrudan JL, Johnson AD, Conlin LK, Dulik MC, Santani A, Metterville DR, Kelly M, Foreman AK, Lee K, Taylor KD, Guo X, Crooks K, Kiedrowski LA, Raffel LJ, Gordon O, Machini K, Desnick RJ, Biesecker LG, Lubitz SA, Mulchandani S, Cooper GM, Joffe S, Richards CS, Yang Y, Rotter JI, Rich SS, O'Donnell CJ, Berg JS, Spinner NB, Evans JP, Fullerton SM, Leppig KA, Bennett RL, Bird T, Sybert VP, Grady WM, Tabor HK, Kim JH, Bamshad MJ, Wilfond B, Motulsky AG, Scott CR, Pritchard CC, Walsh TD, Burke W, Raskind WH, Byers P, Hisama FM, Rehm H, Nickerson DA, Jarvik GP. Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 Mar; 25(3):305-15. PMID: 25637381; PMCID: PMC4352885.
    Citations: 174     Fields:    Translation:Humans
  14. 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: 48     Fields:    Translation:Humans
  15. Machini K, Douglas J, Braxton A, Tsipis J, Kramer K. Genetic counselors' views and experiences with the clinical integration of genome sequencing. J Genet Couns. 2014 Aug; 23(4):496-505. PMID: 24671342.
    Citations: 22     Fields:    Translation:Humans
  16. Blum WF, Machinis K, Shavrikova EP, Keller A, Stobbe H, Pfaeffle RW, Amselem S. The growth response to growth hormone (GH) treatment in children with isolated GH deficiency is independent of the presence of the exon 3-minus isoform of the GH receptor. J Clin Endocrinol Metab. 2006 Oct; 91(10):4171-4. PMID: 16868057.
    Citations: 20     Fields:    Translation:Humans
  17. Gérard-Blanluet M, Sheen V, Machinis K, Neal J, Apse K, Danan C, Sinico M, Brugières P, Mage K, Ratsimbazafy L, Elbez A, Janaud JC, Amselem S, Walsh C, Encha-Razavi F. Bilateral periventricular heterotopias in an X-linked dominant transmission in a family with two affected males. Am J Med Genet A. 2006 May 15; 140(10):1041-6. PMID: 16596669.
    Citations: 12     Fields:    Translation:HumansCells
  18. Machinis K, Amselem S. Functional relationship between LHX4 and POU1F1 in light of the LHX4 mutation identified in patients with pituitary defects. J Clin Endocrinol Metab. 2005 Sep; 90(9):5456-62. PMID: 15998782.
    Citations: 13     Fields:    Translation:HumansAnimalsCells
  19. Machinis K, Pantel J, Netchine I, Léger J, Camand OJ, Sobrier ML, Dastot-Le Moal F, Duquesnoy P, Abitbol M, Czernichow P, Amselem S. Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4. Am J Hum Genet. 2001 Nov; 69(5):961-8. PMID: 11567216; PMCID: PMC1274372.
    Citations: 47     Fields:    Translation:HumansCells
  20. Chagnaud P, Machinis K, Coutte LA, Marecat A, Mercenier A. Rapid PCR-based procedure to identify lactic acid bacteria: application to six common Lactobacillus species. J Microbiol Methods. 2001 Mar 01; 44(2):139-48. PMID: 11165343.
    Citations: 23     Fields:    Translation:HumansAnimalsCells
  21. Pantel J, Machinis K, Sobrier ML, Duquesnoy P, Goossens M, Amselem S. Species-specific alternative splice mimicry at the growth hormone receptor locus revealed by the lineage of retroelements during primate evolution. J Biol Chem. 2000 Jun 23; 275(25):18664-9. PMID: 10764769.
    Citations: 42     Fields:    Translation:HumansAnimalsCells
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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.