Harvard Catalyst Profiles

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Ingrid Adele Holm, M.D.

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Research
The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
  1. U01TR003201 (GREEN, ROBERT C.) Jul 1, 2021 - Jun 30, 2025
    NIH
    Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants
    Role: Co-Principal Investigator
  2. R21HD096355 (GOLDSTEIN, RICHARD DANIEL) Aug 20, 2018 - Jul 31, 2020
    NIH
    Genetics of Sudden Unexpected Death in Pediatrics
    Role: Co-Principal Investigator
  3. R01HG010004 (HOLM, INGRID ADELE) Jul 1, 2018 - Apr 30, 2021
    NIH
    Health Care Provider Responses to Receiving Unsolicited Genomic Results
    Role: Principal Investigator
  4. R01HD089521 (CHAN, YEE-MING) Sep 10, 2016 - May 31, 2021
    NIH
    Exome Sequencing in Disorders of Sex Development: Impact on Patients and Families
    Role: Co-Principal Investigator
  5. U01HG006828 (HARLEY, JOHN BARKER) May 15, 2012 - Nov 30, 2015
    NIH
    Better Outcomes for Children: GWAS & PheWAS in eMERGEII.
    Role: Co-Principal Investigator

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. Brower A, Chan K, Williams M, Berry S, Currier R, Rinaldo P, Caggana M, Gaviglio A, Wilcox W, Steiner R, Holm IA, Taylor J, Orsini JJ, Brunelli L, Adelberg J, Bodamer O, Viall S, Scharfe C, Wasserstein M, Chen JY, Escolar M, Goldenberg A, Swoboda K, Ficicioglu C, Matern D, Lee R, Watson M. Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One). Front Genet. 2022; 13:867337. PMID: 35938011; PMCID: PMC9354846.
    Citations: 2     
  2. Bull MJ, Trotter T, Santoro SL, Christensen C, Grout RW, Burke LW, Berry SA, Geleske TA, Holm I, Hopkin RJ, Introne WJ, Lyons MJ, Monteil DC, Scheuerle A, Stoler JM, Vergano SA, Chen E, Hamid R, Downs SM, Grout RW, Cunniff C, Parisi MA, Ralston SJ, Scott JA, Shapira SK, Spire P. Health Supervision for Children and Adolescents With Down Syndrome. Pediatrics. 2022 05 01; 149(5). PMID: 35490285.
    Citations: 2     Fields:    Translation:Humans
  3. Armstrong B, Christensen KD, Genetti CA, Parad RB, Robinson JO, Blout Zawatsky CL, Zettler B, Beggs AH, Holm IA, Green RC, McGuire AL, Smith HS, Pereira S. Parental Attitudes Toward Standard Newborn Screening and Newborn Genomic Sequencing: Findings From the BabySeq Study. Front Genet. 2022; 13:867371. PMID: 35571041; PMCID: PMC9091188.
    Citations:    
  4. Madden JA, Brothers KK, Williams JL, Myers MF, Leppig KA, Clayton EW, Wiesner GL, Holm IA. Impact of returning unsolicited genomic results to nongenetic health care providers in the eMERGE III Network. Genet Med. 2022 06; 24(6):1297-1305. PMID: 35341654.
    Citations:    Fields:    Translation:Humans
  5. Leppig KA, Kulchak Rahm A, Appelbaum P, Aufox S, Bland ST, Buchanan A, Christensen KD, Chung WK, Clayton EW, Crosslin D, Denny J, DeVange S, Gordon A, Green RC, Hakonarson H, Harr MH, Henrikson N, Hoell C, Holm IA, Kullo IJ, Jarvik GP, Lammers PE, Larson EB, Lindor NM, Marasa M, Myers MF, Perez E, Peterson JF, Pratap S, Prows CA, Ralston JD, Rasouly HM, Roden DM, Sharp RR, Singh R, Shaibi G, Smith ME, Sturm A, Thiese HA, Van Driest SL, Williams J, Williams MS, Wynn J, Blout Zawatsky CL, Wiesner GL. The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network. Genet Med. 2022 05; 24(5):1130-1138. PMID: 35216901.
    Citations: 2     Fields:    Translation:Humans
  6. Koh HY, Haghighi A, Keywan C, Alexandrescu S, Plews-Ogan E, Haas EA, Brownstein CA, Vargas SO, Haynes RL, Berry GT, Holm IA, Poduri AH, Goldstein RD. Genetic Determinants of Sudden Unexpected Death in Pediatrics. Genet Med. 2022 04; 24(4):839-850. PMID: 35027292; PMCID: PMC9164313.
    Citations:    Fields:    Translation:Humans
  7. Mahan S, Ackerman K, DiFazio R, Miller P, Feldman L, Sullivan N, Glotzbecker M, Holm IA. Retrospective study of patterns of vitamin D testing and status at a single institution paediatric orthopaedics and sports clinics. BMJ Open. 2021 12 09; 11(12):e047546. PMID: 34887268; PMCID: PMC8663109.
    Citations:    Fields:    Translation:Humans
  8. Uveges MK, Holm IA. Current Trends in Genetics and Neonatal Care. Adv Neonatal Care. 2021 Dec 01; 21(6):473-481. PMID: 33538495.
    Citations:    Fields:    Translation:HumansPHPublic Health
  9. Pereira S, Smith HS, Frankel LA, Christensen KD, Islam R, Robinson JO, Genetti CA, Blout Zawatsky CL, Zettler B, Parad RB, Waisbren SE, Beggs AH, Green RC, Holm IA, McGuire AL. Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project: A Randomized Clinical Trial. JAMA Pediatr. 2021 11 01; 175(11):1132-1141. PMID: 34424265; PMCID: PMC8383160.
    Citations: 9     Fields:    Translation:HumansPHPublic Health
  10. Wynn J, Milo Rasouly H, Vasquez-Loarte T, Saami AM, Weiss R, Ziniel SI, Appelbaum PS, Wright Clayton E, Christensen KD, Fasel D, Green RC, Hain HS, Harr M, Hoell C, Kullo IJ, Leppig KA, Myers MF, Pacyna JE, Perez EF, Prows CA, Kulchak Rahm A, Campbell-Salome G, Sharp RR, Smith ME, Wiesner GL, Williams JL, Blout Zawatsky CL, Gharavi AG, Chung WK, Holm IA. Do research participants share genomic screening results with family members? J Genet Couns. 2022 04; 31(2):447-458. PMID: 34665896; PMCID: PMC8983417.
    Citations: 2     Fields:    Translation:Humans
  11. Odendaal H, Dukes KA, Elliott AJ, Willinger M, Sullivan LM, Tripp T, Groenewald C, Myers MM, Fifer WP, Angal J, Boyd TK, Burd L, Cotton JB, Folkerth RD, Hankins G, Haynes RL, Hoffman HJ, Jacobs PK, Petersen J, Pini N, Randall BB, Roberts DJ, Robinson F, Sens MA, Van Eerden P, Wright C, Holm IA, Kinney HC. Association of Prenatal Exposure to Maternal Drinking and Smoking With the Risk of Stillbirth. JAMA Netw Open. 2021 08 02; 4(8):e2121726. PMID: 34424306; PMCID: PMC8383134.
    Citations: 3     Fields:    Translation:Humans
  12. Schwartz TS, Christensen KD, Uveges MK, Waisbren SE, McGuire AL, Pereira S, Robinson JO, Beggs AH, Green RC, Bachmann GA, Rabson AB, Holm IA. Effects of participation in a U.S. trial of newborn genomic sequencing on parents at risk for depression. J Genet Couns. 2022 02; 31(1):218-229. PMID: 34309124; PMCID: PMC8789951.
    Citations: 1     Fields:    Translation:Humans
  13. Wojcik MH, Stadelmaier R, Heinke D, Holm IA, Tan WH, Agrawal PB. The Unrecognized Mortality Burden of Genetic Disorders in Infancy. Am J Public Health. 2021 07; 111(S2):S156-S162. PMID: 34314210; PMCID: PMC8495634.
    Citations:    Fields:    Translation:Humans
  14. Taylor CO, Manov NF, Crew KD, Weng C, Connolly JJ, Chute CG, Ford DE, Lehmann H, Rahm AK, Kullo IJ, Caraballo PJ, Holm IA, Mathews D. Preferences for Updates on General Research Results: A Survey of Participants in Genomic Research from Two Institutions. J Pers Med. 2021 May 11; 11(5). PMID: 34065005; PMCID: PMC8151672.
    Citations: 2     
  15. 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: 16     Fields:    Translation:HumansPHPublic Health
  16. Li J, Hojlo MA, Chennuri S, Gujral N, Paterson HL, Shefchek KA, Genetti CA, Cohn EL, Sewalk KC, Garvey EA, Buttermore ED, Anderson NC, Beggs AH, Agrawal PB, Brownstein JS, Haendel MA, Holm IA, Gonzalez-Heydrich J, Brownstein CA. Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study. J Med Internet Res. 2021 03 16; 23(3):e21023. PMID: 33724192.
    Citations:    Fields:    Translation:Humans
  17. Vivekanandarajah A, Nelson ME, Kinney HC, Elliott AJ, Folkerth RD, Tran H, Cotton J, Jacobs P, Minter M, McMillan K, Duncan JR, Broadbelt KG, Schissler K, Odendaal HJ, Angal J, Brink L, Burger EH, Coldrey JA, Dempers J, Boyd TK, Fifer WP, Geldenhuys E, Groenewald C, Holm IA, Myers MM, Randall B, Schubert P, Sens MA, Wright CA, Roberts DJ, Nelsen L, Wadee S, Zaharie D, Haynes RL. Nicotinic Receptors in the Brainstem Ascending Arousal System in SIDS With Analysis of Pre-natal Exposures to Maternal Smoking and Alcohol in High-Risk Populations of the Safe Passage Study. Front Neurol. 2021; 12:636668. PMID: 33776893; PMCID: PMC7988476.
    Citations: 3     
  18. Keywan C, Poduri AH, Goldstein RD, Holm IA. Genetic Factors Underlying Sudden Infant Death Syndrome. Appl Clin Genet. 2021; 14:61-76. PMID: 33623412.
    Citations: 3     
  19. Finn KS, Lynch J, Aufox S, Bland S, Chung W, Halverson C, Hebbring S, Hoell C, Holm I, Jarvik G, Kullo I, Leppig K, Myers M, Prows C, Rasouly HM, Singh R, Weisner G, Williams J, Wynn J, Smith M, Sharp R. Returning negative results from large-scale genomic screening: Experiences from the eMERGE III network. Am J Med Genet A. 2021 Feb; 185(2):508-516. PMID: 36046768; PMCID: PMC9426643.
    Citations:    Fields:    
  20. Ferreira CR, Hackbarth ME, Ziegler SG, Pan KS, Roberts MS, Rosing DR, Whelpley MS, Bryant JC, Macnamara EF, Wang S, Müller K, Hartley IR, Chew EY, Corden TE, Jacobsen CM, Holm IA, Rutsch F, Dikoglu E, Chen MY, Mughal MZ, Levine MA, Gafni RI, Gahl WA. Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI). Genet Med. 2021 02; 23(2):396-407. PMID: 33005041; PMCID: PMC7867608.
    Citations: 17     Fields:    Translation:Humans
  21. Hoell C, Wynn J, Rasmussen LV, Marsolo K, Aufox SA, Chung WK, Connolly JJ, Freimuth RR, Kochan D, Hakonarson H, Harr M, Holm IA, Kullo IJ, Lammers PE, Leppig KA, Leslie ND, Myers MF, Sharp RR, Smith ME, Prows CA. Participant choices for return of genomic results in the eMERGE Network. Genet Med. 2020 11; 22(11):1821-1829. PMID: 32669677; PMCID: PMC8477450.
    Citations: 11     Fields:    Translation:Humans
  22. Keywan C, Holm IA, Poduri A, Brownstein CA, Alexandrescu S, Chen J, Geffre C, Goldstein RD. A de novo BRPF1 variant in a case of Sudden Unexplained Death in Childhood. Eur J Med Genet. 2020 Sep; 63(9):104002. PMID: 32652122.
    Citations: 2     Fields:    Translation:Humans
  23. Rockowitz S, LeCompte N, Carmack M, Quitadamo A, Wang L, Park M, Knight D, Sexton E, Smith L, Sheidley B, Field M, Holm IA, Brownstein CA, Agrawal PB, Kornetsky S, Poduri A, Snapper SB, Beggs AH, Yu TW, Williams DA, Sliz P. Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020 Jul 06; 5(1):29. PMID: 33574273.
    Citations:    
  24. Rockowitz S, LeCompte N, Carmack M, Quitadamo A, Wang L, Park M, Knight D, Sexton E, Smith L, Sheidley B, Field M, Holm IA, Brownstein CA, Agrawal PB, Kornetsky S, Poduri A, Snapper SB, Beggs AH, Yu TW, Williams DA, Sliz P. Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020; 5:29. PMID: 32655885.
    Citations: 11     
  25. Rochtus AM, Goldstein RD, Holm IA, Brownstein CA, Pérez-Palma E, Haynes R, Lal D, Poduri AH. The role of sodium channels in sudden unexpected death in pediatrics. Mol Genet Genomic Med. 2020 08; 8(8):e1309. PMID: 32449611.
    Citations: 9     Fields:    Translation:Humans
  26. Zhang LX, Lemire G, Gonzaga-Jauregui C, Molidperee S, Galaz-Montoya C, Liu DS, Verloes A, Shillington AG, Izumi K, Ritter AL, Keena B, Zackai E, Li D, Bhoj E, Tarpinian JM, Bedoukian E, Kukolich MK, Innes AM, Ediae GU, Sawyer SL, Nair KM, Soumya PC, Subbaraman KR, Probst FJ, Bassetti JA, Sutton RV, Gibbs RA, Brown C, Boone PM, Holm IA, Tartaglia M, Ferrero GB, Niceta M, Dentici ML, Radio FC, Keren B, Wells CF, Coubes C, Laquerrière A, Aziza J, Dubucs C, Nampoothiri S, Mowat D, Patel MS, Bracho A, Cammarata-Scalisi F, Gezdirici A, Fernandez-Jaen A, Hauser N, Zarate YA, Bosanko KA, Dieterich K, Carey JC, Chong JX, Nickerson DA, Bamshad MJ, Lee BH, Yang XJ, Lupski JR, Campeau PM. Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. Genet Med. 2020 08; 22(8):1338-1347. PMID: 32424177; PMCID: PMC7737399.
    Citations: 8     Fields:    Translation:Humans
  27. Lynch JA, Sharp RR, Aufox SA, Bland ST, Blout C, Bowen DJ, Buchanan AH, Halverson C, Harr M, Hebbring SJ, Henrikson N, Hoell C, Holm IA, Jarvik G, Kullo IJ, Kochan DC, Larson EB, Lazzeri A, Leppig KA, Madden J, Marasa M, Myers MF, Peterson J, Prows CA, Kulchak Rahm A, Ralston J, Milo Rasouly H, Scrol A, Smith ME, Sturm A, Stuttgen K, Wiesner G, Williams MS, Wynn J, Williams JL. Understanding the Return of Genomic Sequencing Results Process: Content Review of Participant Summary Letters in the eMERGE Research Network. J Pers Med. 2020 May 13; 10(2). PMID: 32413979.
    Citations: 6     
  28. Wiesner GL, Kulchak Rahm A, Appelbaum P, Aufox S, Bland ST, Blout CL, Christensen KD, Chung WK, Clayton EW, Green RC, Harr MH, Henrikson N, Hoell C, Holm IA, Jarvik GP, Kullo IJ, Lammers PE, Larson EB, Lindor NM, Marasa M, F Myers M, Peterson JF, Prows CA, Ralston JD, Milo Rasouly H, Sharp RR, Smith ME, Van Driest SL, Williams JL, Williams MS, Wynn J, Leppig KA. Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network. J Pers Med. 2020 Apr 27; 10(2). PMID: 32349224.
    Citations: 15     
  29. Berg B, Roos EM, Englund M, Kise NJ, Tiulpin A, Saarakkala S, Engebretsen L, Eftang CN, Holm I, Risberg MA. Development of osteoarthritis in patients with degenerative meniscal tears treated with exercise therapy or surgery: a randomized controlled trial. Osteoarthritis Cartilage. 2020 07; 28(7):897-906. PMID: 32184135.
    Citations: 7     Fields:    Translation:Humans
  30. Elliott AJ, Kinney HC, Haynes RL, Dempers JD, Wright C, Fifer WP, Angal J, Boyd TK, Burd L, Burger E, Folkerth RD, Groenewald C, Hankins G, Hereld D, Hoffman HJ, Holm IA, Myers MM, Nelsen LL, Odendaal HJ, Petersen J, Randall BB, Roberts DJ, Robinson F, Schubert P, Sens MA, Sullivan LM, Tripp T, Van Eerden P, Wadee S, Willinger M, Zaharie D, Dukes KA. Concurrent prenatal drinking and smoking increases risk for SIDS: Safe Passage Study report. EClinicalMedicine. 2020 Feb; 19:100247. PMID: 32140668; PMCID: PMC7046523.
    Citations: 21     
  31. Milko LV, Chen F, Chan K, Brower AM, Agrawal PB, Beggs AH, Berg JS, Brenner SE, Holm IA, Koenig BA, Parad RB, Powell CM, Kingsmore SF. FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation. NPJ Genom Med. 2019 Dec 10; 4(1):32. PMID: 33293547.
    Citations:    
  32. Milko LV, Chen F, Chan K, Brower AM, Agrawal PB, Beggs AH, Berg JS, Brenner SE, Holm IA, Koenig BA, Parad RB, Powell CM, Kingsmore SF. FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation. NPJ Genom Med. 2019; 4:32. PMID: 31839987.
    Citations: 3     
  33. Cheng HD, Tirosh I, de Haan N, Stöckmann H, Adamczyk B, McManus CA, O'Flaherty R, Greville G, Saldova R, Bonilla FA, Notarangelo LD, Driessen GJ, Holm IA, Rudd PM, Wuhrer M, Ackerman ME, Nigrovic PA. IgG Fc glycosylation as an axis of humoral immunity in childhood. J Allergy Clin Immunol. 2020 02; 145(2):710-713.e9. PMID: 31669096; PMCID: PMC7010538.
    Citations: 12     Fields:    Translation:HumansCells
  34. David KL, Best RG, Brenman LM, Bush L, Deignan J, Flannery D, Hoffman JD, Holm I, Miller DT, O'Leary J, Pyeritz RE. Response to Knoppers et al. Genet Med. 2019 10; 21(10):2403. PMID: 30971833.
    Citations:    Fields:    Translation:Humans
  35. Garrett JR, Lantos JD, Biesecker LG, Childerhose JE, Chung WK, Holm IA, Koenig BA, McEwen JE, Wilfond BS, Brothers K. Rethinking the "open future" argument against predictive genetic testing of children. Genet Med. 2019 10; 21(10):2190-2198. PMID: 30894702; PMCID: PMC6754817.
    Citations: 11     Fields:    Translation:Humans
  36. Mercaldo ND, Brothers KB, Carrell DS, Clayton EW, Connolly JJ, Holm IA, Horowitz CR, Jarvik GP, Kitchner TE, Li R, McCarty CA, McCormick JB, McManus VD, Myers MF, Pankratz JJ, Shrubsole MJ, Smith ME, Stallings SC, Williams JL, Schildcrout JS. Enrichment sampling for a multi-site patient survey using electronic health records and census data. J Am Med Inform Assoc. 2019 03 01; 26(3):219-227. PMID: 30590688; PMCID: PMC6351976.
    Citations: 3     Fields:    Translation:Humans
  37. 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: 57     Fields:    Translation:Humans
  38. Pereira S, Robinson JO, Gutierrez AM, Petersen DK, Hsu RL, Lee CH, Schwartz TS, Holm IA, Beggs AH, Green RC, McGuire AL. Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project. Pediatrics. 2019 01; 143(Suppl 1):S6-S13. PMID: 30600265; PMCID: PMC6480393.
    Citations: 14     Fields:    Translation:HumansPHPublic Health
  39. Holm IA, McGuire A, Pereira S, Rehm H, Green RC, Beggs AH. Returning a Genomic Result for an Adult-Onset Condition to the Parents of a Newborn: Insights From the BabySeq Project. Pediatrics. 2019 01; 143(Suppl 1):S37-S43. PMID: 30600270; PMCID: PMC6433124.
    Citations: 12     Fields:    Translation:HumansPHPublic Health
  40. VanNoy GE, Genetti CA, McGuire AL, Green RC, Beggs AH, Holm IA. Challenging the Current Recommendations for Carrier Testing in Children. Pediatrics. 2019 01; 143(Suppl 1):S27-S32. PMID: 30600268; PMCID: PMC6433123.
    Citations: 6     Fields:    Translation:HumansPHPublic Health
  41. David KL, Best RG, Brenman LM, Bush L, Deignan JL, Flannery D, Hoffman JD, Holm I, Miller DT, O'Leary J, Pyeritz RE. Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2019 04; 21(4):769-771. PMID: 30578420.
    Citations: 30     Fields:    Translation:Humans
  42. 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. PMID: 30240342.
    Citations: 11     Fields:    Translation:Humans
  43. 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. 2019 03; 21(3):622-630. PMID: 30209271; PMCID: PMC6420384.
    Citations: 20     Fields:    Translation:HumansPHPublic Health
  44. 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
  45. 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). PMID: 30011878.
    Citations: 10     
  46. 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 07 09; 18(1):225. PMID: 29986673.
    Citations: 47     Fields:    Translation:HumansPHPublic Health
  47. 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. 2019 02; 21(2):311-318. PMID: 29904163; PMCID: PMC6294706.
    Citations: 20     Fields:    Translation:Humans
  48. Holm IA. Using Newborn Sequencing to Advance Understanding of the Natural History of Disease. Hastings Cent Rep. 2018 Jul; 48 Suppl 2:S45-S46. PMID: 30133736.
    Citations: 1     Fields:    Translation:HumansPHPublic Health
  49. 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. 2019 Feb; 62(2):137-143. PMID: 29960046; PMCID: PMC6310103.
    Citations: 4     Fields:    Translation:Humans
  50. 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 04; 50(4):474-476. PMID: 29632381.
    Citations: 13     Fields:    Translation:Humans
  51. 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. PMID: 29601086; PMCID: PMC6453530.
    Citations: 15     Fields:    Translation:Humans
  52. 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. PMID: 29565417.
    Citations: 8     Fields:    Translation:Humans
  53. 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 09; 27(5):1087-1101. PMID: 29497923.
    Citations: 6     Fields:    Translation:Humans
  54. 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. PMID: 29471711; PMCID: PMC8793343.
    Citations: 3     Fields:    Translation:Humans
  55. 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, Poon C, 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. PMID: 29560377.
    Citations: 30     Fields:    
  56. 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. PMID: 29323668; PMCID: PMC5931217.
    Citations: 3     Fields:    Translation:Humans
  57. 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). PMID: 29301385; PMCID: PMC5872076.
    Citations: 23     
  58. 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. PMID: 28973482.
    Citations: 7     Fields:    Translation:HumansCellsCTClinical Trials
  59. 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 01; 11(1):28-31. PMID: 28945957; PMCID: PMC5759723.
    Citations: 6     Fields:    Translation:Humans
  60. 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. PMID: 28745549.
    Citations: 1     Fields:    Translation:Humans
  61. 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. PMID: 28421887; PMCID: PMC5407299.
    Citations: 11     Fields:    Translation:Humans
  62. 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. PMID: 28306396.
    Citations: 2     Fields:    Translation:Humans
  63. 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. PMID: 28190457.
    Citations: 85     Fields:    Translation:Humans
  64. 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. PMID: 28140662.
    Citations: 3     Fields:    Translation:Humans
  65. 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). PMID: 28096516; PMCID: PMC5260149.
    Citations: 71     Fields:    Translation:HumansPHPublic Health
  66. 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: 39     Fields:    Translation:HumansCells
  67. 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. PMID: 27881091.
    Citations: 6     Fields:    Translation:Humans
  68. 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. PMID: 27811861; PMCID: PMC5415437.
    Citations: 31     Fields:    Translation:Humans
  69. 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. PMID: 30088377.
    Citations: 7     Fields:    Translation:HumansPHPublic Health
  70. 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. PMID: 27693503.
    Citations: 8     Fields:    Translation:Humans
  71. 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. PMID: 27652374.
    Citations: 14     Fields:    Translation:Humans
  72. 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. PMID: 27612489; PMCID: PMC6281079.
    Citations: 23     Fields:    
  73. 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. PMID: 27698673; PMCID: PMC5028875.
    Citations:    
  74. 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. PMID: 27573590.
    Citations: 4     Fields:    Translation:Humans
  75. 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. PMID: 27472449.
    Citations: 28     Fields:    Translation:Humans
  76. 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. PMID: 27452794.
    Citations: 19     Fields:    Translation:Humans
  77. 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 07 07; 99(1):246. PMID: 27392080; PMCID: PMC5005464.
    Citations: 20     Fields:    
  78. 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. PMID: 26857349; PMCID: PMC5010878.
    Citations: 77     Fields:    Translation:Humans
  79. 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. PMID: 27181682.
    Citations: 73     Fields:    Translation:Humans
  80. 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. PMID: 27148937; PMCID: PMC5097687.
    Citations: 1     Fields:    Translation:Humans
  81. 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. PMID: 27082877; PMCID: PMC4833284.
    Citations: 13     Fields:    Translation:Humans
  82. Garrison NA, Clayton EW, Smith ME, Holm IA. Response to Patryn and Zagaja. Genet Med. 2016 07; 18(7):751. PMID: 27359094.
    Citations:    Fields:    
  83. 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. PMID: 26676994; PMCID: PMC4909579.
    Citations: 6     Fields:    Translation:Humans
  84. 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. PMID: 26583683; PMCID: PMC4873460.
    Citations: 84     Fields:    Translation:Humans
  85. Brothers KB, Holm IA, Childerhose JE, Antommaria AHM, 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; 168:226-231.e1. PMID: 26477867; PMCID: PMC4824174.
    Citations: 6     Fields:    Translation:Humans
  86. 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. PMID: 26376753; PMCID: PMC6686662.
    Citations: 14     Fields:    Translation:Humans
  87. 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. PMID: 26295439; PMCID: PMC4610002.
    Citations: 208     Fields:    Translation:Humans
  88. 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. PMID: 26498337.
    Citations: 1     Fields:    Translation:Humans
  89. 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. PMID: 26413716; PMCID: PMC4586138.
    Citations: 13     Fields:    Translation:Humans
  90. Brownstein CA, Holm IA, Ramoni R, Goldstein DB. Data sharing in the undiagnosed diseases network. Hum Mutat. 2015 Oct; 36(10):985-8. PMID: 26220576; PMCID: PMC4706173.
    Citations: 13     Fields:    Translation:Humans
  91. 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. PMID: 26140447; PMCID: PMC4570999.
    Citations: 142     Fields:    Translation:Humans
  92. 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. PMID: 26018198.
    Citations: 9     Fields:    Translation:HumansCells
  93. 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. PMID: 25742675.
    Citations: 14     Fields:    Translation:Humans
  94. 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. PMID: 25769188.
    Citations: 3     Fields:    Translation:HumansCTClinical Trials
  95. 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. PMID: 25474344; PMCID: PMC4452417.
    Citations: 16     Fields:    Translation:HumansPHPublic Health
  96. Holm IA. Clinical Management of Pediatric Genomic Testing. Curr Genet Med Rep. 2014 Dec 01; 2(4):212-215. PMID: 25396100; PMCID: PMC4226515.
    Citations: 2     
  97. 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. PMID: 25477900; PMCID: PMC4235428.
    Citations: 43     
  98. 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. PMID: 25264176; PMCID: PMC4254313.
    Citations: 13     Fields:    Translation:Humans
  99. 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. PMID: 29758800.
    Citations: 2     Fields:    
  100. 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. PMID: 24960519; PMCID: PMC4169732.
    Citations: 113     Fields:    Translation:Humans
  101. 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. PMID: 24814192.
    Citations: 197     Fields:    Translation:Humans
  102. 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. PMID: 24723935.
    Citations: 27     
  103. 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: 55     Fields:    Translation:Humans
  104. 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. PMID: 24642506.
    Citations: 22     Fields:    Translation:Humans
  105. 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. PMID: 24623853.
    Citations: 89     Fields:    Translation:Humans
  106. 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. PMID: 24529543.
    Citations: 9     Fields:    Translation:Humans
  107. 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. PMID: 24406460.
    Citations: 33     Fields:    Translation:Humans
  108. 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. PMID: 24170103; PMCID: PMC3879675.
    Citations: 20     Fields:    Translation:HumansCells
  109. 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. PMID: 24348519.
    Citations: 28     
  110. 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. PMID: 23455703.
    Citations:    Fields:    Translation:Humans
  111. 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. PMID: 23440472.
    Citations:    
  112. 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. PMID: 23907645; PMCID: PMC3832423.
    Citations: 146     Fields:    Translation:Humans
  113. 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. PMID: 23625158.
    Citations: 20     Fields:    Translation:HumansCells
  114. 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. PMID: 23227143.
    Citations: 73     Fields:    Translation:HumansCells
  115. 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. PMID: 22549726; PMCID: PMC3429730.
    Citations: 18     Fields:    Translation:HumansCells
  116. 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. PMID: 22490769.
    Citations: 10     Fields:    Translation:Humans
  117. 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. PMID: 22241099; PMCID: PMC3763713.
    Citations: 29     Fields:    Translation:Humans
  118. Holm IA, Taylor PL. The Informed Cohort Oversight Board: From Values to Architecture. Minn J Law Sci Technol. 2012; 13(2):669-690. PMID: 24371432.
    Citations: 11     
  119. 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. PMID: 21538511.
    Citations: 184     Fields:    Translation:Humans
  120. 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. PMID: 21533187.
    Citations: 44     Fields:    Translation:HumansCells
  121. 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. PMID: 20661167.
    Citations: 14     Fields:    Translation:Humans
  122. 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. PMID: 20613623.
    Citations: 48     Fields:    Translation:HumansCells
  123. 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. PMID: 20647299.
    Citations: 46     Fields:    Translation:Humans
  124. 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. PMID: 20231187; PMCID: PMC4247857.
    Citations: 139     Fields:    Translation:Humans
  125. 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. PMID: 19707175.
    Citations: 8     Fields:    Translation:HumansCells
  126. 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. PMID: 19604241.
    Citations: 50     Fields:    Translation:Humans
  127. 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. PMID: 19339759; PMCID: PMC2662571.
    Citations: 5     Fields:    Translation:HumansAnimalsCells
  128. 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. PMID: 18505376.
    Citations: 77     Fields:    Translation:Humans
  129. 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. PMID: 19229229.
    Citations:    Fields:    
  130. 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. PMID: 19232556.
    Citations: 71     Fields:    Translation:Humans
  131. 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. PMID: 18368001.
    Citations:    Fields:    Translation:Humans
  132. 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. PMID: 18091719.
    Citations:    Fields:    
  133. 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. PMID: 17495156.
    Citations: 72     Fields:    Translation:Humans
  134. 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. PMID: 17332231.
    Citations:    Fields:    Translation:HumansAnimals
  135. 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. PMID: 16294260.
    Citations: 8     Fields:    Translation:Humans
  136. 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. PMID: 16043678.
    Citations: 29     Fields:    Translation:Humans
  137. 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. PMID: 15067177.
    Citations: 6     Fields:    Translation:Humans
  138. 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. PMID: 11734484.
    Citations: 121     Fields:    Translation:HumansCTClinical Trials
  139. 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. PMID: 11502829.
    Citations: 42     Fields:    Translation:Humans
  140. 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. PMID: 11336925.
    Citations: 7     Fields:    Translation:HumansCells
  141. 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. PMID: 10609121.
    Citations: 26     Fields:    Translation:Humans
  142. 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. PMID: 10416180.
    Citations: 51     Fields:    Translation:Humans
  143. 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. PMID: 9768674.
    Citations: 33     Fields:    Translation:HumansCells
  144. 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. PMID: 9106524; PMCID: PMC1712471.
    Citations: 44     Fields:    Translation:HumansCells
  145. 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. PMID: 8627443.
    Citations: 10     Fields:    Translation:HumansCells
  146. 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. PMID: 8911831.
    Citations: 15     Fields:    Translation:Humans
  147. 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. PMID: 8524683.
    Citations: 13     Fields:    Translation:Humans
  148. 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. PMID: 7890685.
    Citations: 7     Fields:    Translation:HumansAnimalsCells
  149. 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. PMID: 1463454; PMCID: PMC1132040.
    Citations: 21     Fields:    Translation:AnimalsCells
  150. 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. PMID: 1313547.
    Citations: 44     Fields:    Translation:HumansAnimals
  151. 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. PMID: 2687270.
    Citations: 17     Fields:    Translation:HumansAnimalsCells
  152. 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. PMID: 3390990.
    Citations: 3     Fields:    Translation:Humans
  153. Holm IA, Clarren SK. An unusual pattern of malformation associated with gestational exposure to nasal spray. J Pediatr. 1985 May; 106(5):860-1. PMID: 3998934.
    Citations:    Fields:    Translation:Humans
  154. 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. PMID: 5657615.
    Citations:    Fields:    Translation:Humans
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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.