ABOUT THE RESEARCHER

OVERVIEW

Dr. Holm’s research focuses on the ELSI issue in genomics research in a pediatric setting. She was PI of two NIH-funded grants, one as part of the NHGRI CSER (Clinical Sequencing Exploratory Research) consortium, to study the impact of returning genomic research results to parents and children. Dr. Holm’s related research focus is on diagnosing rare genetic diseases.

Laboratory Projects

  1. BabySeq: The project Genome Sequence-Based Screening for Childhood Risk and Newborn Illness, also called BabySeq, is a randomized trial of infants and their parents from the Newborn Nursery and the Neonatal Intensive Care Unit. Dr. Holm and Dr. Amy McGuire (Baylor College of Medicine) are the co-PIs of the ELSI arm of the project, which examines the clinical outcomes, benefits, and harms of providing genomic sequencing information to parents and medical providers.
  2. Undiagnosed Diseases Network (UDN): The goal of the UDN is to understand conditions that have eluded diagnosis. Dr. Holm oversees the patient engagement and IRB activities of the HMS-based Coordinating Center. Dr. Holm is also co-investigator of the Harvard Affiliated Hospitals UDN clinical site.
  3. The Electronic Medical Records and Genomics (eMERGE) Network: In eMERGE II Dr. Holm was co-PI with Dr. John Harley at Cincinnati Children’s Hospital Medical Center of a joint site. She co-led the “Consent, Education, Regulation & Consultation” (CERC) work group, which explores the ELSI issues. In eMERGE III she co-chairs the Return of Results/ELSI work group and continues to co-led the CERC supplement on patient perspectives on broad consent and data sharing in biobanks.
  4. Sudden Infant Death Syndrome (SIDS) and Sudden Unexplained Death in Childhood (SUDC): Working with Dr. Hannah Kinney’s group in the Department of Pathology, Dr. Holm is interested in unraveling the genetic contributions to both of these disorders. She is a co-investigator in the PASS study, a large international study of SIDS and leads the genetic studies.

BACKGROUND

Dr. Holm obtained her MD at the University of California, Los Angeles and completed her pediatric residency and dual fellowship in Pediatric Endocrinology and Medical Genetics at Boston Children's Hospital (BCH) where she studied the gene defective in X-linked hypophosphatemic rickets (HYP). She completed the Harvard Pediatric Health Services Research Fellowship and received her M.P.H. at the Harvard School of Public Health. She directed the Phenotype Core of the Program in Genomics from 2003-2013, which led to her interests in the ethical, legal, and social implications (ELSI) of genomics research. She is Associate Professor of Pediatrics at HMS.

Selected Publications

  1. Kohane IS, Mandl KD, Taylor PL, Holm IA, Nigrin DJ, Kunkel LM. Medicine. Reestablishing the researcher-patient compact. Science. 2007;316(5826):836-7.
  2. 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. Genetics in Medicine 2012 Mar;14(3):330-7.
  3. Holm, IA, Poduri, A, Crandall, L, Chadwick, A, Grafe, MR, Kinney, HC, Krous, HF. Inheritance of Febrile Seizures in Sudden Unexplained Death in Toddlers. Pediatr Neurol. 2012 Apr;46(4):235-9.
  4. 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.
  5. 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.

PUBLICATIONS

Publications powered by Harvard Catalyst Profiles

  1. Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project: A Randomized Clinical Trial. JAMA Pediatr. 2021 Aug 23. View abstract
  2. Association of Prenatal Exposure to Maternal Drinking and Smoking With the Risk of Stillbirth. JAMA Netw Open. 2021 Aug 02; 4(8):e2121726. View abstract
  3. Effects of participation in a U.S. trial of newborn genomic sequencing on parents at risk for depression. J Genet Couns. 2021 Jul 26. View abstract
  4. The Unrecognized Mortality Burden of Genetic Disorders in Infancy. Am J Public Health. 2021 07; 111(S2):S156-S162. View abstract
  5. 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). View abstract
  6. Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project. Genet Med. 2021 07; 23(7):1372-1375. View abstract
  7. 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. View abstract
  8. 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. View abstract
  9. Genetic Factors Underlying Sudden Infant Death Syndrome. Appl Clin Genet. 2021; 14:61-76. View abstract
  10. Current Trends in Genetics and Neonatal Care. Adv Neonatal Care. 2021 Feb 02. View abstract
  11. Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI). Genet Med. 2021 02; 23(2):396-407. View abstract
  12. Participant choices for return of genomic results in the eMERGE Network. Genet Med. 2020 11; 22(11):1821-1829. View abstract
  13. A de novo BRPF1 variant in a case of Sudden Unexplained Death in Childhood. Eur J Med Genet. 2020 Sep; 63(9):104002. View abstract
  14. Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020; 5:29. View abstract
  15. Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020 Jul 06; 5(1):29. View abstract
  16. The role of sodium channels in sudden unexpected death in pediatrics. Mol Genet Genomic Med. 2020 08; 8(8):e1309. View abstract
  17. Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. Genet Med. 2020 08; 22(8):1338-1347. View abstract
  18. 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). View abstract
  19. Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network. J Pers Med. 2020 Apr 27; 10(2). View abstract
  20. 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. View abstract
  21. Concurrent prenatal drinking and smoking increases risk for SIDS: Safe Passage Study report. EClinicalMedicine. 2020 Feb; 19:100247. View abstract
  22. FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation. NPJ Genom Med. 2019; 4:32. View abstract
  23. FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation. NPJ Genom Med. 2019 Dec 10; 4(1):32. View abstract
  24. IgG Fc glycosylation as an axis of humoral immunity in childhood. J Allergy Clin Immunol. 2020 02; 145(2):710-713.e9. View abstract
  25. Response to Knoppers et al. Genet Med. 2019 10; 21(10):2403. View abstract
  26. Rethinking the "open future" argument against predictive genetic testing of children. Genet Med. 2019 10; 21(10):2190-2198. View abstract
  27. 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. View abstract
  28. 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. View abstract
  29. 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. View abstract
  30. Challenging the Current Recommendations for Carrier Testing in Children. Pediatrics. 2019 01; 143(Suppl 1):S27-S32. View abstract
  31. Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project. Pediatrics. 2019 01; 143(Suppl 1):S6-S13. View abstract
  32. 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. View abstract
  33. 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
  34. Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project. Genet Med. 2019 03; 21(3):622-630. View abstract
  35. 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). View abstract
  36. Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs. Healthcare (Basel). 2018 Jul 13; 6(3). View abstract
  37. The BabySeq project: implementing genomic sequencing in newborns. BMC Pediatr. 2018 07 09; 18(1):225. View abstract
  38. Physicians' perspectives on receiving unsolicited genomic results. Genet Med. 2019 02; 21(2):311-318. View abstract
  39. Using Newborn Sequencing to Advance Understanding of the Natural History of Disease. Hastings Cent Rep. 2018 Jul; 48 Suppl 2:S45-S46. View abstract
  40. Expanding the phenotypic spectrum associated with OPHN1 variants. Eur J Med Genet. 2019 Feb; 62(2):137-143. View abstract
  41. Plain-language medical vocabulary for precision diagnosis. Nat Genet. 2018 04; 50(4):474-476. View abstract
  42. SCN1A variants associated with sudden infant death syndrome. Epilepsia. 2018 04; 59(4):e56-e62. View abstract
  43. 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
  44. Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network. J Genet Couns. 2018 09; 27(5):1087-1101. View abstract
  45. 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
  46. Placebo-controlled crossover assessment of mecasermin for the treatment of Rett syndrome. Ann Clin Transl Neurol. 2018 03; 5(3):323-332. View abstract
  47. 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
  48. 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
  49. 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
  50. Implementing the Single Institutional Review Board Model: Lessons from the Undiagnosed Diseases Network. Clin Transl Sci. 2018 01; 11(1):28-31. View abstract
  51. Prior opioid exposure influences parents' sharing of their children's CYP2D6 research results. Pharmacogenomics. 2017 Aug; 18(13):1199-1213. View abstract
  52. 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
  53. 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
  54. 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
  55. 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
  56. Newborn Sequencing in Genomic Medicine and Public Health. Pediatrics. 2017 Feb; 139(2). View abstract
  57. A curated gene list for reporting results of newborn genomic sequencing. Genet Med. 2017 07; 19(7):809-818. View abstract
  58. 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
  59. 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
  60. Recontacting Pediatric Research Participants for Consent When They Reach the Age of Majority. IRB. 2016 Nov-Dec; 38(6):1-9. View abstract
  61. 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
  62. Practical considerations for implementing genomic information resources. Experiences from eMERGE and CSER. Appl Clin Inform. 2016 09 21; 7(3):870-82. View abstract
  63. Hippocampal Formation Maldevelopment and Sudden Unexpected Death across the Pediatric Age Spectrum. J Neuropathol Exp Neurol. 2016 Oct; 75(10):981-997. View abstract
  64. Suboptimal Clinical Documentation in Young Children with Severe Obesity at Tertiary Care Centers. Int J Pediatr. 2016; 2016:4068582. View abstract
  65. 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
  66. Electronic Health Record Based Algorithm to Identify Patients with Autism Spectrum Disorder. PLoS One. 2016; 11(7):e0159621. View abstract
  67. 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
  68. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet. 2016 07 07; 99(1):246. View abstract
  69. Genetic variation among 82 pharmacogenes: The PGRNseq data from the eMERGE network. Clin Pharmacol Ther. 2016 08; 100(2):160-9. View abstract
  70. 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
  71. Family health history reporting is sensitive to small changes in wording. Genet Med. 2016 12; 18(12):1308-1311. View abstract
  72. 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
  73. Response to Patryn and Zagaja. Genet Med. 2016 07; 18(7):751. View abstract
  74. 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
  75. 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
  76. When Participants in Genomic Research Grow Up: Contact and Consent at the Age of Majority. J Pediatr. 2016 Jan; 168:226-231.e1. View abstract
  77. 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
  78. The Matchmaker Exchange: a platform for rare disease gene discovery. Hum Mutat. 2015 Oct; 36(10):915-21. View abstract
  79. A GWAS Study on Liver Function Test Using eMERGE Network Participants. PLoS One. 2015; 10(9):e0138677. View abstract
  80. 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
  81. Data sharing in the undiagnosed diseases network. Hum Mutat. 2015 Oct; 36(10):985-8. View abstract
  82. 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
  83. 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
  84. 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
  85. 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
  86. Parents are interested in newborn genomic testing during the early postpartum period. Genet Med. 2015 Jun; 17(6):501-4. View abstract
  87. Clinical Management of Pediatric Genomic Testing. Curr Genet Med Rep. 2014 Dec 01; 2(4):212-215. View abstract
  88. 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
  89. Practical guidance on informed consent for pediatric participants in a biorepository. Mayo Clin Proc. 2014 Nov; 89(11):1471-80. View abstract
  90. 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
  91. 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
  92. 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
  93. Return of results in the genomic medicine projects of the eMERGE network. Front Genet. 2014; 5:50. View abstract
  94. 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
  95. Parents' preferences for return of results in pediatric genomic research. Public Health Genomics. 2014; 17(2):105-14. View abstract
  96. 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
  97. 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
  98. 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
  99. 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
  100. EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children. Front Genet. 2013; 4:268. View abstract
  101. Proximal tibial pain in a child. Skeletal Radiol. 2013 Sep; 42(9):1333-6. View abstract
  102. Proximal tibial pain in a child. Skeletal Radiol. 2013 Sep; 42(9):1297-9, 1333-6. View abstract
  103. Recommendations for returning genomic incidental findings? We need to talk! Genet Med. 2013 Nov; 15(11):854-9. View abstract
  104. Peripheral blood gene expression signature differentiates children with autism from unaffected siblings. Neurogenetics. 2013 May; 14(2):143-52. View abstract
  105. Characteristics and predictive value of blood transcriptome signature in males with autism spectrum disorders. PLoS One. 2012; 7(12):e49475. View abstract
  106. Multiple juvenile idiopathic arthritis subtypes demonstrate proinflammatory IgG glycosylation. Arthritis Rheum. 2012 Sep; 64(9):3025-33. View abstract
  107. Inheritance of febrile seizures in sudden unexplained death in toddlers. Pediatr Neurol. 2012 Apr; 46(4):235-9. View abstract
  108. 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
  109. The Informed Cohort Oversight Board: From Values to Architecture. Minn J Law Sci Technol. 2012; 13(2):669-690. View abstract
  110. A clinician's guide to X-linked hypophosphatemia. J Bone Miner Res. 2011 Jul; 26(7):1381-8. View abstract
  111. Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. PLoS Genet. 2011 Apr; 7(4):e1002050. View abstract
  112. 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
  113. Cognitive and behavioral characterization of 16p11.2 deletion syndrome. J Dev Behav Pediatr. 2010 Oct; 31(8):649-57. View abstract
  114. 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
  115. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics. 2010 Apr; 125(4):e727-35. View abstract
  116. 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
  117. 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
  118. 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
  119. 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
  120. Bone disease in thalassemia: a frequent and still unresolved problem. J Bone Miner Res. 2009 Mar; 24(3):543-57. View abstract
  121. 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
  122. 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
  123. 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
  124. Medicine. Reestablishing the researcher-patient compact. Science. 2007 May 11; 316(5826):836-7. View abstract
  125. Effects of pharmacologic agents on bone in childhood: an editorial overview. Pediatrics. 2007 Mar; 119 Suppl 2:S125-30. View abstract
  126. The state of pediatric bone: summary of the ASBMR pediatric bone initiative. J Bone Miner Res. 2005 Dec; 20(12):2075-81. View abstract
  127. Smoking and other lifestyle factors and the risk of Graves' hyperthyroidism. Arch Intern Med. 2005 Jul 25; 165(14):1606-11. View abstract
  128. Abnormal distribution and hyperplasia of thyroid C-cells in PTEN-associated tumor syndromes. Endocr Pathol. 2004; 15(1):55-64. View abstract
  129. 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
  130. 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
  131. 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
  132. Glycogen storage diseases. Phenotypic, genetic, and biochemical characteristics, and therapy. Endocrinol Metab Clin North Am. 1999 Dec; 28(4):801-23. View abstract
  133. 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
  134. Mutational analysis of PHEX gene in X-linked hypophosphatemia. J Clin Endocrinol Metab. 1998 Oct; 83(10):3615-23. View abstract
  135. 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
  136. Oxidative phosphorylation defect associated with primary adrenal insufficiency. J Pediatr. 1996 May; 128(5 Pt 1):688-92. View abstract
  137. 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
  138. Effect of familial hypophosphatemic rickets on dental development: a controlled, longitudinal study. Pediatr Dent. 1995 Sep-Oct; 17(5):346-50. View abstract
  139. 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
  140. 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
  141. Hypervitaminosis D associated with drinking milk. N Engl J Med. 1992 Apr 30; 326(18):1173-7. View abstract
  142. Site of pyruvate formation and processing of mammalian S-adenosylmethionine decarboxylase proenzyme. J Biol Chem. 1989 Dec 15; 264(35):21073-9. View abstract
  143. Recurrent hypothermia and thrombocytopenia after severe neonatal brain infection. Clin Pediatr (Phila). 1988 Jul; 27(7):326-9. View abstract
  144. An unusual pattern of malformation associated with gestational exposure to nasal spray. J Pediatr. 1985 May; 106(5):860-1. View abstract
  145. [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