Ingrid Holm

Publications

1. Family genetic risk communication and reverse cascade testing in the BabySeq project. Genet Med. 2024 Dec 24; 27(3):101350. View Abstract
2. Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants. Pediatrics. 2024 Dec 01; 154(6). View Abstract
3. Preferences of parents from diverse backgrounds on genomic screening of apparently healthy newborns. J Genet Couns. 2024 Oct 28. View Abstract
4. Diverse Participant Recruitment for Infant Sequencing in the BabySeq Project. medRxiv. 2024 Oct 07. View Abstract
5. The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants. Am J Hum Genet. 2024 Oct 03; 111(10):2094-2106. View Abstract
6. Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder. Am J Hum Genet. 2024 Sep 05; 111(9):1970-1993. View Abstract
7. Genetic predictors of blood pressure traits are associated with preeclampsia. Sci Rep. 2024 07 30; 14(1):17613. View Abstract
8. Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants. medRxiv. 2024 Jul 01. View Abstract
9. Managing differential performance of polygenic risk scores across groups: Real-world experience of the eMERGE Network. Am J Hum Genet. 2024 06 06; 111(6):999-1005. View Abstract
10. Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules. Science. 2024 Apr 26; 384(6694):eadf5489. View Abstract
11. Participant-guided development of bilingual genomic educational infographics for Electronic Medical Records and Genomics Phase IV study. J Am Med Inform Assoc. 2024 01 18; 31(2):306-316. View Abstract
12. NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders. Int J Neonatal Screen. 2023 Oct 30; 9(4). View Abstract
13. Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing. Am J Hum Genet. 2023 11 02; 110(11):1950-1958. View Abstract
14. Advancing Understanding of Inequities in Rare Disease Genomics. Clin Ther. 2023 08; 45(8):745-753. View Abstract
15. Studying the impact of translational genomic research: Lessons from eMERGE. Am J Hum Genet. 2023 07 06; 110(7):1021-1033. View Abstract
16. Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project. Am J Hum Genet. 2023 07 06; 110(7):1034-1045. View Abstract
17. The fundamental need for unifying phenotypes in sudden unexpected pediatric deaths. Front Med (Lausanne). 2023; 10:1166188. View Abstract
18. Education and electronic medical records and genomics network, challenges, and lessons learned from a large-scale clinical trial using polygenic risk scores. Genet Med. 2023 09; 25(9):100906. View Abstract
19. Returning Individual Research Results from Digital Phenotyping in Psychiatry. Am J Bioeth. 2024 Feb; 24(2):69-90. View Abstract
20. Perspectives of Rare Disease Experts on Newborn Genome Sequencing. JAMA Netw Open. 2023 05 01; 6(5):e2312231. View Abstract
21. Advancing Understanding of Inequities in Rare Disease Genomics. medRxiv. 2023 Mar 29. View Abstract
22. Genetic Predictors of Blood Pressure Traits are Associated with Preeclampsia. medRxiv. 2023 Feb 14. View Abstract
23. Returning integrated genomic risk and clinical recommendations: The eMERGE study. Genet Med. 2023 04; 25(4):100006. View Abstract
24. Parents' decision-making regarding whether to receive adult-onset only genetic findings for their children: Findings from the BabySeq Project. Genet Med. 2023 03; 25(3):100002. View Abstract
25. Re: Technical Report for Updated 2022 Recommendations for Reducing Infant Deaths in the Sleep Environment. Pediatrics. 2022 12 01; 150(6). View Abstract
26. Attitudes among Parents towards Return of Disease-Related Polygenic Risk Scores (PRS) for Their Children. J Pers Med. 2022 Nov 23; 12(12). View Abstract
27. Outcomes of Returning Medically Actionable Genomic Results in Pediatric Research. J Pers Med. 2022 Nov 16; 12(11). View Abstract
28. Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age. Adv Genet (Hoboken). 2023 Mar; 4(1):2200012. View Abstract
29. Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One). Front Genet. 2022; 13:867337. View Abstract
30. Health Supervision for Children and Adolescents With Down Syndrome. Pediatrics. 2022 05 01; 149(5). View Abstract
31. Parental Attitudes Toward Standard Newborn Screening and Newborn Genomic Sequencing: Findings From the BabySeq Study. Front Genet. 2022; 13:867371. View Abstract
32. Impact of returning unsolicited genomic results to nongenetic health care providers in the eMERGE III Network. Genet Med. 2022 06; 24(6):1297-1305. View Abstract
33. The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network. Genet Med. 2022 05; 24(5):1130-1138. View Abstract
34. Genetic Determinants of Sudden Unexpected Death in Pediatrics. Genet Med. 2022 04; 24(4):839-850. View Abstract
35. 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. View Abstract
36. Current Trends in Genetics and Neonatal Care. Adv Neonatal Care. 2021 Dec 01; 21(6):473-481. View Abstract
37. 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. View Abstract
38. Do research participants share genomic screening results with family members? J Genet Couns. 2022 04; 31(2):447-458. View Abstract
39. Association of Prenatal Exposure to Maternal Drinking and Smoking With the Risk of Stillbirth. JAMA Netw Open. 2021 08 02; 4(8):e2121726. View Abstract
40. 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. View Abstract
41. The Unrecognized Mortality Burden of Genetic Disorders in Infancy. Am J Public Health. 2021 07; 111(S2):S156-S162. View Abstract
42. 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
43. Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project. Genet Med. 2021 07; 23(7):1372-1375. View Abstract
44. 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
45. 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
46. Genetic Factors Underlying Sudden Infant Death Syndrome. Appl Clin Genet. 2021; 14:61-76. View Abstract
47. Returning negative results from large-scale genomic screening: Experiences from the eMERGE III network. Am J Med Genet A. 2021 02; 185(2):508-516. View Abstract
48. Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI). Genet Med. 2021 02; 23(2):396-407. View Abstract
49. Participant choices for return of genomic results in the eMERGE Network. Genet Med. 2020 11; 22(11):1821-1829. View Abstract
50. 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
51. Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020; 5:29. View Abstract
52. Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020 Jul 06; 5(1):29. View Abstract
53. The role of sodium channels in sudden unexpected death in pediatrics. Mol Genet Genomic Med. 2020 08; 8(8):e1309. View Abstract
54. 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
55. 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
56. Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network. J Pers Med. 2020 Apr 27; 10(2). View Abstract
57. 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
58. Concurrent prenatal drinking and smoking increases risk for SIDS: Safe Passage Study report. EClinicalMedicine. 2020 Feb; 19:100247. View Abstract
59. FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation. NPJ Genom Med. 2019; 4:32. View Abstract
60. 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
61. IgG Fc glycosylation as an axis of humoral immunity in childhood. J Allergy Clin Immunol. 2020 02; 145(2):710-713.e9. View Abstract
62. Response to Knoppers et al. Genet Med. 2019 10; 21(10):2403. View Abstract
63. Rethinking the "open future" argument against predictive genetic testing of children. Genet Med. 2019 10; 21(10):2190-2198. View Abstract
64. 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
65. 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
66. Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project. Pediatrics. 2019 01; 143(Suppl 1):S6-S13. View Abstract
67. Challenging the Current Recommendations for Carrier Testing in Children. Pediatrics. 2019 01; 143(Suppl 1):S27-S32. View Abstract
68. 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
69. 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
70. 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
71. Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project. Genet Med. 2019 03; 21(3):622-630. View Abstract
72. 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
73. Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs. Healthcare (Basel). 2018 Jul 13; 6(3). View Abstract
74. The BabySeq project: implementing genomic sequencing in newborns. BMC Pediatr. 2018 07 09; 18(1):225. View Abstract
75. Physicians' perspectives on receiving unsolicited genomic results. Genet Med. 2019 02; 21(2):311-318. View Abstract
76. Using Newborn Sequencing to Advance Understanding of the Natural History of Disease. Hastings Cent Rep. 2018 Jul; 48 Suppl 2:S45-S46. View Abstract
77. Expanding the phenotypic spectrum associated with OPHN1 variants. Eur J Med Genet. 2019 Feb; 62(2):137-143. View Abstract
78. Plain-language medical vocabulary for precision diagnosis. Nat Genet. 2018 04; 50(4):474-476. View Abstract
79. SCN1A variants associated with sudden infant death syndrome. Epilepsia. 2018 04; 59(4):e56-e62. View Abstract
80. 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
81. 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
82. 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
83. Placebo-controlled crossover assessment of mecasermin for the treatment of Rett syndrome. Ann Clin Transl Neurol. 2018 03; 5(3):323-332. View Abstract
84. 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
85. 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
86. 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
87. Implementing the Single Institutional Review Board Model: Lessons from the Undiagnosed Diseases Network. Clin Transl Sci. 2018 01; 11(1):28-31. View Abstract
88. Prior opioid exposure influences parents' sharing of their children's CYP2D6 research results. Pharmacogenomics. 2017 Aug; 18(13):1199-1213. View Abstract
89. 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
90. 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
91. 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
92. 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
93. Newborn Sequencing in Genomic Medicine and Public Health. Pediatrics. 2017 Feb; 139(2). View Abstract
94. A curated gene list for reporting results of newborn genomic sequencing. Genet Med. 2017 07; 19(7):809-818. View Abstract
95. 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
96. 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
97. Recontacting Pediatric Research Participants for Consent When They Reach the Age of Majority. IRB. 2016 Nov-Dec; 38(6):1-9. View Abstract
98. 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
99. Practical considerations for implementing genomic information resources. Experiences from eMERGE and CSER. Appl Clin Inform. 2016 09 21; 7(3):870-82. View Abstract
100. Hippocampal Formation Maldevelopment and Sudden Unexpected Death across the Pediatric Age Spectrum. J Neuropathol Exp Neurol. 2016 Oct; 75(10):981-997. View Abstract
101. Suboptimal Clinical Documentation in Young Children with Severe Obesity at Tertiary Care Centers. Int J Pediatr. 2016; 2016:4068582. View Abstract
102. 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
103. Electronic Health Record Based Algorithm to Identify Patients with Autism Spectrum Disorder. PLoS One. 2016; 11(7):e0159621. View Abstract
104. 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
105. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet. 2016 07 07; 99(1):246. View Abstract
106. Genetic variation among 82 pharmacogenes: The PGRNseq data from the eMERGE network. Clin Pharmacol Ther. 2016 08; 100(2):160-9. View Abstract
107. 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
108. Family health history reporting is sensitive to small changes in wording. Genet Med. 2016 12; 18(12):1308-1311. View Abstract
109. 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
110. Response to Patryn and Zagaja. Genet Med. 2016 07; 18(7):751. View Abstract
111. 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
112. 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
113. 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
114. 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
115. The Matchmaker Exchange: a platform for rare disease gene discovery. Hum Mutat. 2015 Oct; 36(10):915-21. View Abstract
116. A GWAS Study on Liver Function Test Using eMERGE Network Participants. PLoS One. 2015; 10(9):e0138677. View Abstract
117. 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
118. Data sharing in the undiagnosed diseases network. Hum Mutat. 2015 Oct; 36(10):985-8. View Abstract
119. 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
120. 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
121. 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
122. 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
123. Parents are interested in newborn genomic testing during the early postpartum period. Genet Med. 2015 Jun; 17(6):501-4. View Abstract
124. Clinical Management of Pediatric Genomic Testing. Curr Genet Med Rep. 2014 Dec 01; 2(4):212-215. View Abstract
125. 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
126. Practical guidance on informed consent for pediatric participants in a biorepository. Mayo Clin Proc. 2014 Nov; 89(11):1471-80. View Abstract
127. 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
128. 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
129. 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
130. Return of results in the genomic medicine projects of the eMERGE network. Front Genet. 2014; 5:50. View Abstract
131. 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
132. Parents' preferences for return of results in pediatric genomic research. Public Health Genomics. 2014; 17(2):105-14. View Abstract
133. 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
134. 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
135. 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
136. 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
137. EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children. Front Genet. 2013; 4:268. View Abstract
138. Proximal tibial pain in a child. Skeletal Radiol. 2013 Sep; 42(9):1333-6. View Abstract
139. Proximal tibial pain in a child. Skeletal Radiol. 2013 Sep; 42(9):1297-9, 1333-6. View Abstract
140. Recommendations for returning genomic incidental findings? We need to talk! Genet Med. 2013 Nov; 15(11):854-9. View Abstract
141. Peripheral blood gene expression signature differentiates children with autism from unaffected siblings. Neurogenetics. 2013 May; 14(2):143-52. View Abstract
142. Characteristics and predictive value of blood transcriptome signature in males with autism spectrum disorders. PLoS One. 2012; 7(12):e49475. View Abstract
143. Multiple juvenile idiopathic arthritis subtypes demonstrate proinflammatory IgG glycosylation. Arthritis Rheum. 2012 Sep; 64(9):3025-33. View Abstract
144. Inheritance of febrile seizures in sudden unexplained death in toddlers. Pediatr Neurol. 2012 Apr; 46(4):235-9. View Abstract
145. 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
146. The Informed Cohort Oversight Board: From Values to Architecture. Minn J Law Sci Technol. 2012; 13(2):669-690. View Abstract
147. A clinician's guide to X-linked hypophosphatemia. J Bone Miner Res. 2011 Jul; 26(7):1381-8. View Abstract
148. Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. PLoS Genet. 2011 Apr; 7(4):e1002050. View Abstract
149. 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
150. Cognitive and behavioral characterization of 16p11.2 deletion syndrome. J Dev Behav Pediatr. 2010 Oct; 31(8):649-57. View Abstract
151. 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
152. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics. 2010 Apr; 125(4):e727-35. View Abstract
153. 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
154. 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
155. 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
156. Bone disease in thalassemia: a frequent and still unresolved problem. J Bone Miner Res. 2009 Mar; 24(3):543-57. View Abstract
157. 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
158. 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
159. 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
160. 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
161. Medicine. Reestablishing the researcher-patient compact. Science. 2007 May 11; 316(5826):836-7. View Abstract
162. Effects of pharmacologic agents on bone in childhood: an editorial overview. Pediatrics. 2007 Mar; 119 Suppl 2:S125-30. View Abstract
163. The state of pediatric bone: summary of the ASBMR pediatric bone initiative. J Bone Miner Res. 2005 Dec; 20(12):2075-81. View Abstract
164. Smoking and other lifestyle factors and the risk of Graves' hyperthyroidism. Arch Intern Med. 2005 Jul 25; 165(14):1606-11. View Abstract
165. Locomotion skills in adults with cerebral palsy. Clin Rehabil. 2004 May; 18(3):309-16. View Abstract
166. Abnormal distribution and hyperplasia of thyroid C-cells in PTEN-associated tumor syndromes. Endocr Pathol. 2004; 15(1):55-64. View Abstract
167. Coping potential and disability--sense of coherence in adults with cerebral palsy. Disabil Rehabil. 2002 Jul 10; 24(10):511-8. View Abstract
168. 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
169. 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
170. 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
171. Glycogen storage diseases. Phenotypic, genetic, and biochemical characteristics, and therapy. Endocrinol Metab Clin North Am. 1999 Dec; 28(4):801-23. View Abstract
172. 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
173. [Patients with chronic degenerative spinal disease--can conservative treatment reduce the waiting list for surgery?]. Tidsskr Nor Laegeforen. 1999 May 10; 119(12):1784-7. View Abstract
174. Mutational analysis of PHEX gene in X-linked hypophosphatemia. J Clin Endocrinol Metab. 1998 Oct; 83(10):3615-23. View Abstract
175. 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
176. Oxidative phosphorylation defect associated with primary adrenal insufficiency. J Pediatr. 1996 May; 128(5 Pt 1):688-92. View Abstract
177. 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
178. Effect of familial hypophosphatemic rickets on dental development: a controlled, longitudinal study. Pediatr Dent. 1995 Sep-Oct; 17(5):346-50. View Abstract
179. 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
180. Reliability of functional knee tests in normal athletes. Scand J Med Sci Sports. 1995 Feb; 5(1):24-8. View Abstract
181. Muscle function after mid-shaft femoral shortening. A prospective study with a two-year follow-up. J Bone Joint Surg Br. 1994 Jan; 76(1):143-6. View Abstract
182. 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
183. Bilateral femoral shortening for unaccepted tallness. J Bone Joint Surg Br. 1992 May; 74(3):406-8. View Abstract
184. Hypervitaminosis D associated with drinking milk. N Engl J Med. 1992 Apr 30; 326(18):1173-7. View Abstract
185. Site of pyruvate formation and processing of mammalian S-adenosylmethionine decarboxylase proenzyme. J Biol Chem. 1989 Dec 15; 264(35):21073-9. View Abstract
186. Recurrent hypothermia and thrombocytopenia after severe neonatal brain infection. Clin Pediatr (Phila). 1988 Jul; 27(7):326-9. View Abstract
187. An unusual pattern of malformation associated with gestational exposure to nasal spray. J Pediatr. 1985 May; 106(5):860-1. View Abstract
188. [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
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