EDUCATION

Undergraduate Degree

Psychology
  • Brown University , 1979 , Providence , RI

Medical School

  • University of California, Los Angeles, School of Medicine , 1985 , Los Angeles , CA

Internship

Pediatrics
  • Boston Children's Hospital , 1986 , Boston , MA

Residency

Pediatrics
  • Boston Children's Hospital , 1988 , Boston , MA

Fellowship

Genetics and Pediatric Endocrinology
  • Boston Children's Hospital , 1992 , Boston , MA

Graduate Degree

MPH
  • Harvard School of Public Health , 2003 , Boston , MA

CERTIFICATIONS

  • American Board of Genetics and Genomics

PUBLICATIONS

Publications powered by Harvard Catalyst Profiles

  1. Antommaria AHM, Brothers KB, Myers JA, Feygin YB, Aufox SA, Brilliant MH, Conway P, Fullerton SM, Garrison NA, Horowitz CR, Jarvik GP, Li R, Ludman EJ, McCarty CA, McCormick JB, Mercaldo ND, Myers MF, Sanderson SC, Shrubsole MJ, Schildcrout JS, Williams JL, Smith ME, Clayton EW, Holm IA. Parents' attitudes toward consent and data sharing in biobanks: A multisite experimental survey. AJOB Empir Bioeth. 2018 Jul-Sep; 9(3):128-142. View abstract
  2. Genetti CA, Schwartz TS, Robinson JO, VanNoy GE, Petersen D, Pereira S, Fayer S, Peoples HA, Agrawal PB, Betting WN, Holm IA, McGuire AL, Waisbren SE, Yu TW, Green RC, Beggs AH, Parad RB. Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project. Genet Med. 2018 Sep 13. View abstract
  3. 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 Aug; 4(4). View abstract
  4. Williams JL, Chung WK, Fedotov A, Kiryluk K, Weng C, Connolly JJ, Harr M, Hakonarson H, Leppig KA, Larson EB, Jarvik GP, Veenstra DL, Hoell C, Smith ME, Holm IA, Peterson JF, Williams MS. Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs. Healthcare (Basel). 2018 Jul 13; 6(3). View abstract
  5. Holm IA, Agrawal PB, Ceyhan-Birsoy O, Christensen KD, Fayer S, Frankel LA, Genetti CA, Krier JB, LaMay RC, Levy HL, McGuire AL, Parad RB, Park PJ, Pereira S, Rehm HL, Schwartz TS, Waisbren SE, Yu TW, Green RC, Beggs AH. The BabySeq project: implementing genomic sequencing in newborns. BMC Pediatr. 2018 Jul 09; 18(1):225. View abstract
  6. Holm IA. Using Newborn Sequencing to Advance Understanding of the Natural History of Disease. Hastings Cent Rep. 2018 Jul; 48 Suppl 2:S45-S46. View abstract
  7. Schwartz TS, Wojcik MH, Pelletier RC, Edward HL, Picker JD, Holm IA, Towne MC, Beggs AH, Agrawal PB. Expanding the phenotypic spectrum associated with OPHN1 variants. Eur J Med Genet. 2018 Jun 27. View abstract
  8. Pet DB, Holm IA, Williams JL, Myers MF, Novak LL, Brothers KB, Wiesner GL, Clayton EW. Physicians' perspectives on receiving unsolicited genomic results. Genet Med. 2018 Jun 14. View abstract
  9. Vasilevsky NA, Foster ED, Engelstad ME, Carmody L, Might M, Chambers C, Dawkins HJS, Lewis J, Della Rocca MG, Snyder M, Boerkoel CF, Rath A, Terry SF, Kent A, Searle B, Baynam G, Jones E, Gavin P, Bamshad M, Chong J, Groza T, Adams D, Resnick AC, Heath AP, Mungall C, Holm IA, Rageth K, Brownstein CA, Shefchek K, McMurry JA, Robinson PN, Köhler S, Haendel MA. Plain-language medical vocabulary for precision diagnosis. Nat Genet. 2018 Apr; 50(4):474-476. View abstract
  10. Brownstein CA, Goldstein RD, Thompson CH, Haynes RL, Giles E, Sheidley B, Bainbridge M, Haas EA, Mena OJ, Lucas J, Schaber B, Holm IA, George AL, Kinney HC, Poduri AH. SCN1A variants associated with sudden infant death syndrome. Epilepsia. 2018 04; 59(4):e56-e62. View abstract
  11. Bush LW, Bartoshesky LE, David KL, Wilfond B, Williams JL, Holm IA. Pediatric clinical exome/genome sequencing and the engagement process: encouraging active conversation with the older child and adolescent: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018 07; 20(7):692-694. View abstract
  12. Palmer CGS, McConkie-Rosell A, Holm IA, LeBlanc K, Sinsheimer JS, Briere LC, Dorrani N, Herzog MR, Lincoln S, Schoch K, Spillmann RC, Brokamp E. Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network. J Genet Couns. 2018 Sep; 27(5):1087-1101. View abstract
  13. Mitchell PB, Ziniel SI, Savage SK, Christensen KD, Weitzman ER, Green RC, Huntington NL, Mathews DJ, Holm IA. Enhancing Autonomy in Biobank Decisions: Too Much of a Good Thing? J Empir Res Hum Res Ethics. 2018 04; 13(2):125-138. View abstract
  14. O'Leary HM, Kaufmann WE, Barnes KV, Rakesh K, Kapur K, Tarquinio DC, Cantwell NG, Roche KJ, Rose SA, Walco AC, Bruck NM, Bazin GA, Holm IA, Alexander ME, Swanson LC, Baczewski LM, Mayor Torres JM, Nelson CA, Sahin M. Placebo-controlled crossover assessment of mecasermin for the treatment of Rett syndrome. Ann Clin Transl Neurol. 2018 03; 5(3):323-332. View abstract
  15. Bush LW, Beck AE, Biesecker LG, Evans JP, Hamosh A, Holm IA, Martin CL, Richards CS, Rehm HL. Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018 02; 20(2):169-171. View abstract
  16. Fossey R, Kochan D, Winkler E, Pacyna JE, Olson J, Thibodeau S, Connolly JJ, Harr M, Behr MA, Prows CA, Cobb B, Myers MF, Leslie ND, Namjou-Khales B, Milo Rasouly H, Wynn J, Fedotov A, Chung WK, Gharavi A, Williams JL, Pais L, Holm I, Aufox S, Smith ME, Scrol A, Leppig K, Jarvik GP, Wiesner GL, Li R, Stroud M, Smoller JW, Sharp RR, Kullo IJ. Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience. J Pers Med. 2018 Jan 03; 8(1). View abstract
  17. Cheng HD, Stöckmann H, Adamczyk B, McManus CA, Ercan A, Holm IA, Rudd PM, Ackerman ME, Nigrovic PA. High-throughput characterization of the functional impact of IgG Fc glycan aberrancy in juvenile idiopathic arthritis. Glycobiology. 2017 12 01; 27(12):1099-1108. View abstract
  18. Splinter K, Hull SC, Holm IA, McDonough TL, Wise AL, Ramoni RB. Implementing the Single Institutional Review Board Model: Lessons from the Undiagnosed Diseases Network. Clin Transl Sci. 2018 Jan; 11(1):28-31. View abstract
  19. Myers MF, Zhang X, McLaughlin B, Kissell D, Perry CL, Veerkamp M, Zhang K, Holm IA, Prows CA. Prior opioid exposure influences parents' sharing of their children's CYP2D6 research results. Pharmacogenomics. 2017 Aug; 18(13):1199-1213. View abstract
  20. Christensen KD, Savage SK, Huntington NL, Weitzman ER, Ziniel SI, Bacon PL, Cacioppo CN, Green RC, Holm IA. Preferences for the Return of Individual Results From Research on Pediatric Biobank Samples. J Empir Res Hum Res Ethics. 2017 04; 12(2):97-106. View abstract
  21. Holm IA, Yu TW, Joffe S. From Sequence Data to Returnable Results: Ethical Issues in Variant Calling and Interpretation. Genet Test Mol Biomarkers. 2017 Mar; 21(3):178-183. View abstract
  22. Sanderson SC, Brothers KB, Mercaldo ND, Clayton EW, Antommaria AHM, Aufox SA, Brilliant MH, Campos D, Carrell DS, Connolly J, Conway P, Fullerton SM, Garrison NA, Horowitz CR, Jarvik GP, Kaufman D, Kitchner TE, Li R, Ludman EJ, McCarty CA, McCormick JB, McManus VD, Myers MF, Scrol A, Williams JL, Shrubsole MJ, Schildcrout JS, Smith ME, Holm IA. Public Attitudes toward Consent and Data Sharing in Biobank Research: A Large Multi-site Experimental Survey in the US. Am J Hum Genet. 2017 Mar 02; 100(3):414-427. View abstract
  23. Holm IA. Pediatric Issues in Return of Results and Incidental Findings: Weighing Autonomy and Best Interests. Genet Test Mol Biomarkers. 2017 Mar; 21(3):155-158. View abstract
  24. Berg JS, Agrawal PB, Bailey DB, Beggs AH, Brenner SE, Brower AM, Cakici JA, Ceyhan-Birsoy O, Chan K, Chen F, Currier RJ, Dukhovny D, Green RC, Harris-Wai J, Holm IA, Iglesias B, Joseph G, Kingsmore SF, Koenig BA, Kwok PY, Lantos J, Leeder SJ, Lewis MA, McGuire AL, Milko LV, Mooney SD, Parad RB, Pereira S, Petrikin J, Powell BC, Powell CM, Puck JM, Rehm HL, Risch N, Roche M, Shieh JT, Veeraraghavan N, Watson MS, Willig L, Yu TW, Urv T, Wise AL. Newborn Sequencing in Genomic Medicine and Public Health. Pediatrics. 2017 Feb; 139(2). View abstract
  25. 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. View abstract
  26. Smith ME, Sanderson SC, Brothers KB, Myers MF, McCormick J, Aufox S, Shrubsole MJ, Garrison NA, Mercaldo ND, Schildcrout JS, Clayton EW, Antommaria AH, Basford M, Brilliant M, Connolly JJ, Fullerton SM, Horowitz CR, Jarvik GP, Kaufman D, Kitchner T, Li R, Ludman EJ, McCarty C, McManus V, Stallings S, Williams JL, Holm IA. Conducting a large, multi-site survey about patients' views on broad consent: challenges and solutions. BMC Med Res Methodol. 2016 11 24; 16(1):162. View abstract
  27. O'Daniel JM, McLaughlin HM, Amendola LM, Bale SJ, Berg JS, Bick D, Bowling KM, Chao EC, Chung WK, Conlin LK, Cooper GM, Das S, Deignan JL, Dorschner MO, Evans JP, Ghazani AA, Goddard KA, Gornick M, Farwell Hagman KD, Hambuch T, Hegde M, Hindorff LA, Holm IA, Jarvik GP, Knight Johnson A, Mighion L, Morra M, Plon SE, Punj S, Richards CS, Santani A, Shirts BH, Spinner NB, Tang S, Weck KE, Wolf SM, Yang Y, Rehm HL. A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories. Genet Med. 2017 05; 19(5):575-582. View abstract
  28. Knoppers BM, Sénécal K, Boisjoli J, Borry P, Cornel MC, Fernandez CV, Grewal J, Holm IA, Nelson E, Pinxten W, Shabani M, Tassé AM, Zawati M, Clayton W. Recontacting Pediatric Research Participants for Consent When They Reach the Age of Majority. IRB. 2016 Nov-Dec; 38(6):1-9. View abstract
  29. Culvenor AG, Øiestad BE, Holm I, Gunderson RB, Crossley KM, Risberg MA. Anterior knee pain following anterior cruciate ligament reconstruction does not increase the risk of patellofemoral osteoarthritis at 15- and 20-year follow-ups. Osteoarthritis Cartilage. 2017 01; 25(1):30-33. View abstract
  30. Rasmussen LV, Overby CL, Connolly J, Chute CG, Denny JC, Freimuth R, Hartzler AL, Holm IA, Manzi S, Pathak J, Peissig PL, Smith M, Williams MS, Shirts BH, Stoffel EM, Tarczy-Hornoch P, Rohrer Vitek CR, Wolf WA, Starren J. Practical considerations for implementing genomic information resources. Experiences from eMERGE and CSER. Appl Clin Inform. 2016 09 21; 7(3):870-82. View abstract
  31. Kinney HC, Poduri AH, Cryan JB, Haynes RL, Teot L, Sleeper LA, Holm IA, Berry GT, Prabhu SP, Warfield SK, Brownstein C, Abram HS, Kruer M, Kemp WL, Hargitai B, Gastrang J, Mena OJ, Haas EA, Dastjerdi R, Armstrong DD, Goldstein RD. Hippocampal Formation Maldevelopment and Sudden Unexpected Death across the Pediatric Age Spectrum. J Neuropathol Exp Neurol. 2016 Oct; 75(10):981-997. View abstract
  32. Brady CC, Thaker VV, Lingren T, Woo JG, Kennebeck SS, Namjou-Khales B, Roach A, Bickel JP, Patibandla N, Savova GK, Solti I, Holm IA, Harley JB, Kohane IS, Crimmins NA. Suboptimal Clinical Documentation in Young Children with Severe Obesity at Tertiary Care Centers. Int J Pediatr. 2016; 2016:4068582. View abstract
  33. Adelsperger S, Prows CA, Myers MF, Perry CL, Chandler A, Holm IA, Lynch JA. Parental Perception of Self-Empowerment in Pediatric Pharmacogenetic Testing: The Reactions of Parents to the Communication of Actual and Hypothetical CYP2D6 Test Results. Health Commun. 2017 09; 32(9):1104-1111. View abstract
  34. Lingren T, Chen P, Bochenek J, Doshi-Velez F, Manning-Courtney P, Bickel J, Wildenger Welchons L, Reinhold J, Bing N, Ni Y, Barbaresi W, Mentch F, Basford M, Denny J, Vazquez L, Perry C, Namjou B, Qiu H, Connolly J, Abrams D, Holm IA, Cobb BA, Lingren N, Solti I, Hakonarson H, Kohane IS, Harley J, Savova G. Electronic Health Record Based Algorithm to Identify Patients with Autism Spectrum Disorder. PLoS One. 2016; 11(7):e0159621. View abstract
  35. Lingren T, Thaker V, Brady C, Namjou B, Kennebeck S, Bickel J, Patibandla N, Ni Y, Van Driest SL, Chen L, Roach A, Cobb B, Kirby J, Denny J, Bailey-Davis L, Williams MS, Marsolo K, Solti I, Holm IA, Harley J, Kohane IS, Savova G, Crimmins N. Developing an Algorithm to Detect Early Childhood Obesity in Two Tertiary Pediatric Medical Centers. Appl Clin Inform. 2016 07 20; 7(3):693-706. View abstract
  36. Green RC, Goddard KA, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Burke W, Caga-Anan CF, Chinnaiyan AM, Chung WK, Clayton EW, Cooper GM, East K, Evans JP, Fullerton SM, Garraway LA, Garrett JR, Gray SW, Henderson GE, Hindorff LA, Holm IA, Lewis MH, Hutter CM, Janne PA, Joffe S, Kaufman D, Knoppers BM, Koenig BA, Krantz ID, Manolio TA, McCullough L, McEwen J, McGuire A, Muzny D, Myers RM, Nickerson DA, Ou J, Parsons DW, Petersen GM, Plon SE, Rehm HL, Roberts JS, Robinson D, Salama JS, Scollon S, Sharp RR, Shirts B, Spinner NB, Tabor HK, Tarczy-Hornoch P, Veenstra DL, Wagle N, Weck K, Wilfond BS, Wilhelmsen K, Wolf SM, Wynn J, Yu JH. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet. 2016 Jul 07; 99(1):246. View abstract
  37. Bush WS, Crosslin DR, Owusu-Obeng A, Wallace J, Almoguera B, Basford MA, Bielinski SJ, Carrell DS, Connolly JJ, Crawford D, Doheny KF, Gallego CJ, Gordon AS, Keating B, Kirby J, Kitchner T, Manzi S, Mejia AR, Pan V, Perry CL, Peterson JF, Prows CA, Ralston J, Scott SA, Scrol A, Smith M, Stallings SC, Veldhuizen T, Wolf W, Volpi S, Wiley K, Li R, Manolio T, Bottinger E, Brilliant MH, Carey D, Chisholm RL, Chute CG, Haines JL, Hakonarson H, Harley JB, Holm IA, Kullo IJ, Jarvik GP, Larson EB, McCarty CA, Williams MS, Denny JC, Rasmussen-Torvik LJ, Roden DM, Ritchie MD. Genetic variation among 82 pharmacogenes: The PGRNseq data from the eMERGE network. Clin Pharmacol Ther. 2016 08; 100(2):160-9. View abstract
  38. Green RC, Goddard KAB, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Burke W, Caga-Anan CF, Chinnaiyan AM, Chung WK, Clayton EW, Cooper GM, East K, Evans JP, Fullerton SM, Garraway LA, Garrett JR, Gray SW, Henderson GE, Hindorff LA, Holm IA, Lewis MH, Hutter CM, Janne PA, Joffe S, Kaufman D, Knoppers BM, Koenig BA, Krantz ID, Manolio TA, McCullough L, McEwen J, McGuire A, Muzny D, Myers RM, Nickerson DA, Ou J, Parsons DW, Petersen GM, Plon SE, Rehm HL, Roberts JS, Robinson D, Salama JS, Scollon S, Sharp RR, Shirts B, Spinner NB, Tabor HK, Tarczy-Hornoch P, Veenstra DL, Wagle N, Weck K, Wilfond BS, Wilhelmsen K, Wolf SM, Wynn J, Yu JH. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet. 2016 06 02; 98(6):1051-1066. View abstract
  39. Conway-Pearson LS, Christensen KD, Savage SK, Huntington NL, Weitzman ER, Ziniel SI, Bacon P, Cacioppo CN, Green RC, Holm IA. Family health history reporting is sensitive to small changes in wording. Genet Med. 2016 12; 18(12):1308-1311. View abstract
  40. Cacioppo CN, Chandler AE, Towne MC, Beggs AH, Holm IA. Expectation versus Reality: The Impact of Utility on Emotional Outcomes after Returning Individualized Genetic Research Results in Pediatric Rare Disease Research, a Qualitative Interview Study. PLoS One. 2016; 11(4):e0153597. View abstract
  41. Garrison NA, Clayton EW, Smith ME, Holm IA. Response to Patryn and Zagaja. Genet Med. 2016 07; 18(7):751. View abstract
  42. Thaker VV, Lee F, Bottino CJ, Perry CL, Holm IA, Hirschhorn JN, Osganian SK. Impact of an Electronic Template on Documentation of Obesity in a Primary Care Clinic. Clin Pediatr (Phila). 2016 Oct; 55(12):1152-9. View abstract
  43. Garrison NA, Sathe NA, Antommaria AH, Holm IA, Sanderson SC, Smith ME, McPheeters ML, Clayton EW. A systematic literature review of individuals' perspectives on broad consent and data sharing in the United States. Genet Med. 2016 07; 18(7):663-71. View abstract
  44. Brothers KB, Holm IA, Childerhose JE, Antommaria AH, Bernhardt BA, Clayton EW, Gelb BD, Joffe S, Lynch JA, McCormick JB, McCullough LB, Parsons DW, Sundaresan AS, Wolf WA, Yu JH, Wilfond BS. When Participants in Genomic Research Grow Up: Contact and Consent at the Age of Majority. J Pediatr. 2016 Jan; 168:226-31.e1. View abstract
  45. Holm IA, Iles BR, Ziniel SI, Bacon PL, Savage SK, Christensen KD, Weitzman ER, Green RC, Huntington NL. Participant Satisfaction With a Preference-Setting Tool for the Return of Individual Research Results in Pediatric Genomic Research. J Empir Res Hum Res Ethics. 2015 Oct; 10(4):414-26. View abstract
  46. Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA, Brudno M, Brunner HG, Buske OJ, Carey K, Doll C, Dumitriu S, Dyke SO, den Dunnen JT, Firth HV, Gibbs RA, Girdea M, Gonzalez M, Haendel MA, Hamosh A, Holm IA, Huang L, Hurles ME, Hutton B, Krier JB, Misyura A, Mungall CJ, Paschall J, Paten B, Robinson PN, Schiettecatte F, Sobreira NL, Swaminathan GJ, Taschner PE, Terry SF, Washington NL, Züchner S, Boycott KM, Rehm HL. The Matchmaker Exchange: a platform for rare disease gene discovery. Hum Mutat. 2015 Oct; 36(10):915-21. View abstract
  47. Namjou B, Marsolo K, Lingren T, Ritchie MD, Verma SS, Cobb BL, Perry C, Kitchner TE, Brilliant MH, Peissig PL, Borthwick KM, Williams MS, Grafton J, Jarvik GP, Holm IA, Harley JB. A GWAS Study on Liver Function Test Using eMERGE Network Participants. PLoS One. 2015; 10(9):e0138677. View abstract
  48. Vaksvik T, Ruijs A, Røkkum M, Holm I. Evaluation of a home treatment program for cold hypersensitivity using a classical conditioning procedure in patients with hand and arm injuries. J Hand Ther. 2016 Jan-Mar; 29(1):14-22. View abstract
  49. Brownstein CA, Holm IA, Ramoni R, Goldstein DB. Data sharing in the undiagnosed diseases network. Hum Mutat. 2015 Oct; 36(10):985-8. View abstract
  50. Botkin JR, Belmont JW, Berg JS, Berkman BE, Bombard Y, Holm IA, Levy HP, Ormond KE, Saal HM, Spinner NB, Wilfond BS, McInerney JD. Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents. Am J Hum Genet. 2015 Jul 02; 97(1):6-21. View abstract
  51. Calderwood L, Holm IA, Teot LA, Anselm I. Adrenal Insufficiency in Mitochondrial Disease: A Rare Case of GFER-Related Mitochondrial Encephalomyopathy and Review of the Literature. J Child Neurol. 2016 Feb; 31(2):190-4. View abstract
  52. Bacon PL, Harris ED, Ziniel SI, Savage SK, Weitzman ER, Green RC, Huntington NL, Holm IA. The development of a preference-setting model for the return of individual genomic research results. J Empir Res Hum Res Ethics. 2015 Apr; 10(2):107-20. View abstract
  53. Holm I, Tveter AT, Moseng T, Dagfinrud H. Does outpatient physical therapy with the aim of improving health-related physical fitness influence the level of physical activity in patients with long-term musculoskeletal conditions? Physiotherapy. 2015 Sep; 101(3):273-8. View abstract
  54. Waisbren SE, Bäck DK, Liu C, Kalia SS, Ringer SA, Holm IA, Green RC. Parents are interested in newborn genomic testing during the early postpartum period. Genet Med. 2015 Jun; 17(6):501-4. View abstract
  55. Holm IA. Clinical Management of Pediatric Genomic Testing. Curr Genet Med Rep. 2014 Dec 01; 2(4):212-215. View abstract
  56. Namjou B, Marsolo K, Caroll RJ, Denny JC, Ritchie MD, Verma SS, Lingren T, Porollo A, Cobb BL, Perry C, Kottyan LC, Rothenberg ME, Thompson SD, Holm IA, Kohane IS, Harley JB. Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts, genetically links PLCL1 to speech language development and IL5-IL13 to Eosinophilic Esophagitis. Front Genet. 2014; 5:401. View abstract
  57. Brothers KB, Lynch JA, Aufox SA, Connolly JJ, Gelb BD, Holm IA, Sanderson SC, McCormick JB, Williams JL, Wolf WA, Antommaria AH, Clayton EW. Practical guidance on informed consent for pediatric participants in a biorepository. Mayo Clin Proc. 2014 Nov; 89(11):1471-80. View abstract
  58. Savage SK, Ziniel SI, Stoler J, Margulies DM, Holm IA, Brownstein CA. An assessment of clinician and researcher needs for support in the era of genomic medicine. Per Med. 2014 Aug; 11(6):569-579. View abstract
  59. Rasmussen-Torvik LJ, Stallings SC, Gordon AS, Almoguera B, Basford MA, Bielinski SJ, Brautbar A, Brilliant MH, Carrell DS, Connolly JJ, Crosslin DR, Doheny KF, Gallego CJ, Gottesman O, Kim DS, Leppig KA, Li R, Lin S, Manzi S, Mejia AR, Pacheco JA, Pan V, Pathak J, Perry CL, Peterson JF, Prows CA, Ralston J, Rasmussen LV, Ritchie MD, Sadhasivam S, Scott SA, Smith M, Vega A, Vinks AA, Volpi S, Wolf WA, Bottinger E, Chisholm RL, Chute CG, Haines JL, Harley JB, Keating B, Holm IA, Kullo IJ, Jarvik GP, Larson EB, Manolio T, McCarty CA, Nickerson DA, Scherer SE, Williams MS, Roden DM, Denny JC. Design and anticipated outcomes of the eMERGE-PGx project: a multicenter pilot for preemptive pharmacogenomics in electronic health record systems. Clin Pharmacol Ther. 2014 Oct; 96(4):482-9. View abstract
  60. Jarvik GP, Amendola LM, Berg JS, Brothers K, Clayton EW, Chung W, Evans BJ, Evans JP, Fullerton SM, Gallego CJ, Garrison NA, Gray SW, Holm IA, Kullo IJ, Lehmann LS, McCarty C, Prows CA, Rehm HL, Sharp RR, Salama J, Sanderson S, Van Driest SL, Williams MS, Wolf SM, Wolf WA, Burke W. Return of genomic results to research participants: the floor, the ceiling, and the choices in between. Am J Hum Genet. 2014 Jun 05; 94(6):818-26. View abstract
  61. Kullo IJ, Haddad R, Prows CA, Holm I, Sanderson SC, Garrison NA, Sharp RR, Smith ME, Kuivaniemi H, Bottinger EP, Connolly JJ, Keating BJ, McCarty CA, Williams MS, Jarvik GP. Return of results in the genomic medicine projects of the eMERGE network. Front Genet. 2014; 5:50. View abstract
  62. 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. View abstract
  63. Ziniel SI, Savage SK, Huntington N, Amatruda J, Green RC, Weitzman ER, Taylor P, Holm IA. Parents' preferences for return of results in pediatric genomic research. Public Health Genomics. 2014; 17(2):105-14. View abstract
  64. Khwaja OS, Ho E, Barnes KV, O'Leary HM, Pereira LM, Finkelstein Y, Nelson CA, Vogel-Farley V, DeGregorio G, Holm IA, Khatwa U, Kapur K, Alexander ME, Finnegan DM, Cantwell NG, Walco AC, Rappaport L, Gregas M, Fichorova RN, Shannon MW, Sur M, Kaufmann WE. Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome. Proc Natl Acad Sci U S A. 2014 Mar 25; 111(12):4596-601. View abstract
  65. Moseng T, Tveter AT, Holm I, Dagfinrud H. Patients with musculoskeletal conditions do less vigorous physical activity and have poorer physical fitness than population controls: a cross-sectional study. Physiotherapy. 2014 Dec; 100(4):319-24. View abstract
  66. Holm IA, Savage SK, Green RC, Juengst E, McGuire A, Kornetsky S, Brewster SJ, Joffe S, Taylor P. Guidelines for return of research results from pediatric genomic studies: deliberations of the Boston Children's Hospital Gene Partnership Informed Cohort Oversight Board. Genet Med. 2014 Jul; 16(7):547-52. View abstract
  67. Salpea P, Horvath A, London E, Faucz FR, Vetro A, Levy I, Gourgari E, Dauber A, Holm IA, Morrison PJ, Keil MF, Lyssikatos C, Smith ED, Sanidad MA, Kelly JC, Dai Z, Mowrey P, Forlino A, Zuffardi O, Stratakis CA. Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing. J Clin Endocrinol Metab. 2014 Jan; 99(1):E183-8. View abstract
  68. Namjou B, Keddache M, Marsolo K, Wagner M, Lingren T, Cobb B, Perry C, Kennebeck S, Holm IA, Li R, Crimmins NA, Martin L, Solti I, Kohane IS, Harley JB. EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children. Front Genet. 2013; 4:268. View abstract
  69. Henderson ER, Jacobsen CM, Pohlmann RA, Kozakewich HP, Holm IA, Gebhardt MC. Proximal tibial pain in a child. Skeletal Radiol. 2013 Sep; 42(9):1333-6. View abstract
  70. Henderson ER, Jacobsen CM, Pohlmann RA, Kozakewich HP, Holm IA, Gebhardt MC. Proximal tibial pain in a child. Skeletal Radiol. 2013 Sep; 42(9):1297-9, 1333-6. View abstract
  71. Burke W, Antommaria AH, Bennett R, Botkin J, Clayton EW, Henderson GE, Holm IA, Jarvik GP, Khoury MJ, Knoppers BM, Press NA, Ross LF, Rothstein MA, Saal H, Uhlmann WR, Wilfond B, Wolf SM, Zimmern R. Recommendations for returning genomic incidental findings? We need to talk! Genet Med. 2013 Nov; 15(11):854-9. View abstract
  72. Kong SW, Shimizu-Motohashi Y, Campbell MG, Lee IH, Collins CD, Brewster SJ, Holm IA, Rappaport L, Kohane IS, Kunkel LM. Peripheral blood gene expression signature differentiates children with autism from unaffected siblings. Neurogenetics. 2013 May; 14(2):143-52. View abstract
  73. Kong SW, Collins CD, Shimizu-Motohashi Y, Holm IA, Campbell MG, Lee IH, Brewster SJ, Hanson E, Harris HK, Lowe KR, Saada A, Mora A, Madison K, Hundley R, Egan J, McCarthy J, Eran A, Galdzicki M, Rappaport L, Kunkel LM, Kohane IS. Characteristics and predictive value of blood transcriptome signature in males with autism spectrum disorders. PLoS One. 2012; 7(12):e49475. View abstract
  74. Ercan A, Barnes MG, Hazen M, Tory H, Henderson L, Dedeoglu F, Fuhlbrigge RC, Grom A, Holm IA, Kellogg M, Kim S, Adamczyk B, Rudd PM, Son MB, Sundel RP, Foell D, Glass DN, Thompson SD, Nigrovic PA. Multiple juvenile idiopathic arthritis subtypes demonstrate proinflammatory IgG glycosylation. Arthritis Rheum. 2012 Sep; 64(9):3025-33. View abstract
  75. Holm IA, Poduri A, Crandall L, Haas E, Grafe MR, Kinney HC, Krous HF. Inheritance of febrile seizures in sudden unexplained death in toddlers. Pediatr Neurol. 2012 Apr; 46(4):235-9. View abstract
  76. Harris ED, Ziniel SI, Amatruda JG, Clinton CM, Savage SK, Taylor PL, Huntington NL, Green RC, Holm IA. The beliefs, motivations, and expectations of parents who have enrolled their children in a genetic biorepository. Genet Med. 2012 Mar; 14(3):330-7. View abstract
  77. Holm IA, Taylor PL. The Informed Cohort Oversight Board: From Values to Architecture. Minn J Law Sci Technol. 2012; 13(2):669-690. View abstract
  78. Carpenter TO, Imel EA, Holm IA, Jan de Beur SM, Insogna KL. A clinician's guide to X-linked hypophosphatemia. J Bone Miner Res. 2011 Jul; 26(7):1381-8. View abstract
  79. Bowen ME, Boyden ED, Holm IA, Campos-Xavier B, Bonafé L, Superti-Furga A, Ikegawa S, Cormier-Daire V, Bovée JV, Pansuriya TC, de Sousa SB, Savarirayan R, Andreucci E, Vikkula M, Garavelli L, Pottinger C, Ogino T, Sakai A, Regazzoni BM, Wuyts W, Sangiorgi L, Pedrini E, Zhu M, Kozakewich HP, Kasser JR, Seidman JG, Kurek KC, Warman ML. Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. PLoS Genet. 2011 Apr; 7(4):e1002050. View abstract
  80. Paterson DS, Rivera KD, Broadbelt KG, Trachtenberg FL, Belliveau RA, Holm IA, Haas EA, Stanley C, Krous HF, Kinney HC, Markianos K. Lack of association of the serotonin transporter polymorphism with the sudden infant death syndrome in the San Diego Dataset. Pediatr Res. 2010 Nov; 68(5):409-13. View abstract
  81. Hanson E, Nasir RH, Fong A, Lian A, Hundley R, Shen Y, Wu BL, Holm IA, Miller DT. Cognitive and behavioral characterization of 16p11.2 deletion syndrome. J Dev Behav Pediatr. 2010 Oct; 31(8):649-57. View abstract
  82. Oiestad BE, Holm I, Engebretsen L, Risberg MA. The association between radiographic knee osteoarthritis and knee symptoms, function and quality of life 10-15 years after anterior cruciate ligament reconstruction. Br J Sports Med. 2011 Jun; 45(7):583-8. View abstract
  83. Shen Y, Dies KA, Holm IA, Bridgemohan C, Sobeih MM, Caronna EB, Miller KJ, Frazier JA, Silverstein I, Picker J, Weissman L, Raffalli P, Jeste S, Demmer LA, Peters HK, Brewster SJ, Kowalczyk SJ, Rosen-Sheidley B, McGowan C, Duda AW, Lincoln SA, Lowe KR, Schonwald A, Robbins M, Hisama F, Wolff R, Becker R, Nasir R, Urion DK, Milunsky JM, Rappaport L, Gusella JF, Walsh CA, Wu BL, Miller DT. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics. 2010 Apr; 125(4):e727-35. View abstract
  84. Broadbelt KG, Barger MA, Paterson DS, Holm IA, Haas EA, Krous HF, Kinney HC, Markianos K, Beggs AH. Serotonin-related FEV gene variant in the sudden infant death syndrome is a common polymorphism in the African-American population. Pediatr Res. 2009 Dec; 66(6):631-5. View abstract
  85. Vogiatzi MG, Macklin EA, Trachtenberg FL, Fung EB, Cheung AM, Vichinsky E, Olivieri N, Kirby M, Kwiatkowski JL, Cunningham M, Holm IA, Fleisher M, Grady RW, Peterson CM, Giardina PJ. Differences in the prevalence of growth, endocrine and vitamin D abnormalities among the various thalassaemia syndromes in North America. Br J Haematol. 2009 Sep; 146(5):546-56. View abstract
  86. Eran A, Graham KR, Vatalaro K, McCarthy J, Collins C, Peters H, Brewster SJ, Hanson E, Hundley R, Rappaport L, Holm IA, Kohane IS, Kunkel LM. Comment on "Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients". J Clin Invest. 2009 Apr; 119(4):679-80; author reply 680-1. View abstract
  87. Holm IA. Do short courses of oral corticosteroids and use of inhaled corticosteroids affect bone health in children? Nat Clin Pract Endocrinol Metab. 2009 Mar; 5(3):132-3. View abstract
  88. Vogiatzi MG, Macklin EA, Fung EB, Cheung AM, Vichinsky E, Olivieri N, Kirby M, Kwiatkowski JL, Cunningham M, Holm IA, Lane J, Schneider R, Fleisher M, Grady RW, Peterson CC, Giardina PJ. Bone disease in thalassemia: a frequent and still unresolved problem. J Bone Miner Res. 2009 Mar; 24(3):543-57. View abstract
  89. Krakow D, Vriens J, Camacho N, Luong P, Deixler H, Funari TL, Bacino CA, Irons MB, Holm IA, Sadler L, Okenfuss EB, Janssens A, Voets T, Rimoin DL, Lachman RS, Nilius B, Cohn DH. Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. Am J Hum Genet. 2009 Mar; 84(3):307-15. View abstract
  90. Geffner ME, Demay M, Raetzman L, Holm I, Diamanti-Kandarakis E, Savage MO, Francis G, Rogol AD. The 88th Annual Meeting of the Endocrine Society, June 24-27, 2006, Boston MA, USA: selected pediatric presentations. Pediatr Endocrinol Rev. 2008 Mar; 5(3):789-95. View abstract
  91. Holm IA. Can acute administration of pamidronate help to preserve bone mass in children with severe burn injury? Nat Clin Pract Endocrinol Metab. 2008 Mar; 4(3):134-5. View abstract
  92. Kohane IS, Mandl KD, Taylor PL, Holm IA, Nigrin DJ, Kunkel LM. Medicine. Reestablishing the researcher-patient compact. Science. 2007 May 11; 316(5826):836-7. View abstract
  93. Klein GL, Bachrach LK, Holm IA. Effects of pharmacologic agents on bone in childhood: an editorial overview. Pediatrics. 2007 Mar; 119 Suppl 2:S125-30. View abstract
  94. Klein GL, Fitzpatrick LA, Langman CB, Beck TJ, Carpenter TO, Gilsanz V, Holm IA, Leonard MB, Specker BL. The state of pediatric bone: summary of the ASBMR pediatric bone initiative. J Bone Miner Res. 2005 Dec; 20(12):2075-81. View abstract
  95. Holm IA, Manson JE, Michels KB, Alexander EK, Willett WC, Utiger RD. Smoking and other lifestyle factors and the risk of Graves' hyperthyroidism. Arch Intern Med. 2005 Jul 25; 165(14):1606-11. View abstract
  96. Zambrano E, Holm I, Glickman J, Huang S, Perez-Atayde A, Kozakewich HP, Shamberger RC, Nosé V. Abnormal distribution and hyperplasia of thyroid C-cells in PTEN-associated tumor syndromes. Endocr Pathol. 2004; 15(1):55-64. View abstract
  97. Aune AK, Holm I, Risberg MA, Jensen HK, Steen H. Four-strand hamstring tendon autograft compared with patellar tendon-bone autograft for anterior cruciate ligament reconstruction. A randomized study with two-year follow-up. Am J Sports Med. 2001 Nov-Dec; 29(6):722-8. View abstract
  98. Holm IA, Nelson AE, Robinson BG, Mason RS, Marsh DJ, Cowell CT, Carpenter TO. Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets. J Clin Endocrinol Metab. 2001 Aug; 86(8):3889-99. View abstract
  99. Nelson AE, Hogan JJ, Holm IA, Robinson BG, Mason RS. Phosphate wasting in oncogenic osteomalacia: PHEX is normal and the tumor-derived factor has unique properties. Bone. 2001 Apr; 28(4):430-9. View abstract
  100. Wolfsdorf JI, Holm IA, Weinstein DA. Glycogen storage diseases. Phenotypic, genetic, and biochemical characteristics, and therapy. Endocrinol Metab Clin North Am. 1999 Dec; 28(4):801-23. View abstract
  101. Risberg MA, Holm I, Tjomsland O, Ljunggren E, Ekeland A. Prospective study of changes in impairments and disabilities after anterior cruciate ligament reconstruction. J Orthop Sports Phys Ther. 1999 Jul; 29(7):400-12. View abstract
  102. Dixon PH, Christie PT, Wooding C, Trump D, Grieff M, Holm I, Gertner JM, Schmidtke J, Shah B, Shaw N, Smith C, Tau C, Schlessinger D, Whyte MP, Thakker RV. Mutational analysis of PHEX gene in X-linked hypophosphatemia. J Clin Endocrinol Metab. 1998 Oct; 83(10):3615-23. View abstract
  103. Holm IA, Huang X, Kunkel LM. Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. Am J Hum Genet. 1997 Apr; 60(4):790-7. View abstract
  104. North K, Korson MS, Krawiecki N, Shoffner JM, Holm IA. Oxidative phosphorylation defect associated with primary adrenal insufficiency. J Pediatr. 1996 May; 128(5 Pt 1):688-92. View abstract
  105. Esbjörnsson Liljedahl M, Holm I, Sylvén C, Jansson E. Different responses of skeletal muscle following sprint training in men and women. Eur J Appl Physiol Occup Physiol. 1996; 74(4):375-83. View abstract
  106. Seow WK, Needleman HL, Holm IA. Effect of familial hypophosphatemic rickets on dental development: a controlled, longitudinal study. Pediatr Dent. 1995 Sep-Oct; 17(5):346-50. View abstract
  107. Persson K, Holm I, Heby O. Cloning and sequencing of an intronless mouse S-adenosylmethionine decarboxylase gene coding for a functional enzyme strongly expressed in the liver. J Biol Chem. 1995 Mar 10; 270(10):5642-8. View abstract
  108. Shantz LM, Holm I, Jänne OA, Pegg AE. Regulation of S-adenosylmethionine decarboxylase activity by alterations in the intracellular polyamine content. Biochem J. 1992 Dec 01; 288 ( Pt 2):511-8. View abstract
  109. Jacobus CH, Holick MF, Shao Q, Chen TC, Holm IA, Kolodny JM, Fuleihan GE, Seely EW. Hypervitaminosis D associated with drinking milk. N Engl J Med. 1992 Apr 30; 326(18):1173-7. View abstract
  110. Stanley BA, Pegg AE, Holm I. Site of pyruvate formation and processing of mammalian S-adenosylmethionine decarboxylase proenzyme. J Biol Chem. 1989 Dec 15; 264(35):21073-9. View abstract
  111. Holm IA, McLaughlin JF, Feldman K, Stone EF. Recurrent hypothermia and thrombocytopenia after severe neonatal brain infection. Clin Pediatr (Phila). 1988 Jul; 27(7):326-9. View abstract
  112. Holm IA, Clarren SK. An unusual pattern of malformation associated with gestational exposure to nasal spray. J Pediatr. 1985 May; 106(5):860-1. View abstract
  113. Balslov JT, Holm I, Jorgensen HE, Winkler K. [Treatment of cardiac arrest in 200 patients with special reference to results and complications]. Nord Med. 1968 Feb 22; 79(8):243-9. View abstract