Ingrid Holm

Growth Attenuation Therapy: Ongoing Ethical and Practical Challenges 20 Years Post Ashley. Am J Bioeth. 2025 May 23; 1-9. View Growth Attenuation Therapy: Ongoing Ethical and Practical Challenges 20 Years Post Ashley. Abstract

Covering medical care costs for participants in the eMERGE Network: Challenges for equity and implementation. Genet Med. 2025 May 16; 101457. View Covering medical care costs for participants in the eMERGE Network: Challenges for equity and implementation. Abstract

Data-driven consideration of genetic disorders for global genomic newborn screening programs. Genet Med. 2025 Apr 25; 101443. View Data-driven consideration of genetic disorders for global genomic newborn screening programs. Abstract

Insights from the largest diverse ancestry sex-specific disease map for genetically predicted height. NPJ Genom Med. 2025 Feb 27; 10(1):14. View Insights from the largest diverse ancestry sex-specific disease map for genetically predicted height. Abstract

Family genetic risk communication and reverse cascade testing in the BabySeq project. Genet Med. 2025 Mar; 27(3):101350. View Family genetic risk communication and reverse cascade testing in the BabySeq project. Abstract

Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants. Pediatrics. 2024 Dec 01; 154(6). View Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants. Abstract

Preferences of parents from diverse backgrounds on genomic screening of apparently healthy newborns. J Genet Couns. 2025 Apr; 34(2):e1994. View Preferences of parents from diverse backgrounds on genomic screening of apparently healthy newborns. Abstract

Diverse Participant Recruitment for Infant Sequencing in the BabySeq Project. medRxiv. 2024 Oct 07. View Diverse Participant Recruitment for Infant Sequencing in the BabySeq Project. Abstract

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 The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants. Abstract

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 Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder. Abstract

Genetic predictors of blood pressure traits are associated with preeclampsia. Sci Rep. 2024 07 30; 14(1):17613. View Genetic predictors of blood pressure traits are associated with preeclampsia. Abstract

Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants. medRxiv. 2024 Jul 01. View Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants. Abstract

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 Managing differential performance of polygenic risk scores across groups: Real-world experience of the eMERGE Network. Abstract

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules. Science. 2024 04 26; 384(6694):eadf5489. View Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules. Abstract

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 Participant-guided development of bilingual genomic educational infographics for Electronic Medical Records and Genomics Phase IV study. Abstract

NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders. Int J Neonatal Screen. 2023 Oct 30; 9(4). View NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders. Abstract

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 Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing. Abstract

Advancing Understanding of Inequities in Rare Disease Genomics. Clin Ther. 2023 08; 45(8):745-753. View Advancing Understanding of Inequities in Rare Disease Genomics. Abstract

Studying the impact of translational genomic research: Lessons from eMERGE. Am J Hum Genet. 2023 07 06; 110(7):1021-1033. View Studying the impact of translational genomic research: Lessons from eMERGE. Abstract

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 Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project. Abstract

The fundamental need for unifying phenotypes in sudden unexpected pediatric deaths. Front Med (Lausanne). 2023; 10:1166188. View The fundamental need for unifying phenotypes in sudden unexpected pediatric deaths. Abstract

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 Education and electronic medical records and genomics network, challenges, and lessons learned from a large-scale clinical trial using polygenic risk scores. Abstract

Returning Individual Research Results from Digital Phenotyping in Psychiatry. Am J Bioeth. 2024 Feb; 24(2):69-90. View Returning Individual Research Results from Digital Phenotyping in Psychiatry. Abstract

Perspectives of Rare Disease Experts on Newborn Genome Sequencing. JAMA Netw Open. 2023 05 01; 6(5):e2312231. View Perspectives of Rare Disease Experts on Newborn Genome Sequencing. Abstract

Advancing Understanding of Inequities in Rare Disease Genomics. medRxiv. 2023 Mar 29. View Advancing Understanding of Inequities in Rare Disease Genomics. Abstract

Genetic Predictors of Blood Pressure Traits are Associated with Preeclampsia. medRxiv. 2023 Feb 14. View Genetic Predictors of Blood Pressure Traits are Associated with Preeclampsia. Abstract

Returning integrated genomic risk and clinical recommendations: The eMERGE study. Genet Med. 2023 04; 25(4):100006. View Returning integrated genomic risk and clinical recommendations: The eMERGE study. Abstract

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 Parents' decision-making regarding whether to receive adult-onset only genetic findings for their children: Findings from the BabySeq Project. Abstract

Re: Technical Report for Updated 2022 Recommendations for Reducing Infant Deaths in the Sleep Environment. Pediatrics. 2022 12 01; 150(6). View Re: Technical Report for Updated 2022 Recommendations for Reducing Infant Deaths in the Sleep Environment. Abstract

Attitudes among Parents towards Return of Disease-Related Polygenic Risk Scores (PRS) for Their Children. J Pers Med. 2022 Nov 23; 12(12). View Attitudes among Parents towards Return of Disease-Related Polygenic Risk Scores (PRS) for Their Children. Abstract

Outcomes of Returning Medically Actionable Genomic Results in Pediatric Research. J Pers Med. 2022 Nov 16; 12(11). View Outcomes of Returning Medically Actionable Genomic Results in Pediatric Research. Abstract

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 Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age. Abstract

Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One). Front Genet. 2022; 13:867337. View Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One). Abstract

Health Supervision for Children and Adolescents With Down Syndrome. Pediatrics. 2022 05 01; 149(5). View Health Supervision for Children and Adolescents With Down Syndrome. Abstract

Parental Attitudes Toward Standard Newborn Screening and Newborn Genomic Sequencing: Findings From the BabySeq Study. Front Genet. 2022; 13:867371. View Parental Attitudes Toward Standard Newborn Screening and Newborn Genomic Sequencing: Findings From the BabySeq Study. Abstract

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 Impact of returning unsolicited genomic results to nongenetic health care providers in the eMERGE III Network. Abstract

The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network. Genet Med. 2022 05; 24(5):1130-1138. View The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network. Abstract

Genetic Determinants of Sudden Unexpected Death in Pediatrics. Genet Med. 2022 04; 24(4):839-850. View Genetic Determinants of Sudden Unexpected Death in Pediatrics. Abstract

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 Retrospective study of patterns of vitamin D testing and status at a single institution paediatric orthopaedics and sports clinics. Abstract

Current Trends in Genetics and Neonatal Care. Adv Neonatal Care. 2021 Dec 01; 21(6):473-481. View Current Trends in Genetics and Neonatal Care. Abstract

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 Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project: A Randomized Clinical Trial. Abstract

Do research participants share genomic screening results with family members? J Genet Couns. 2022 04; 31(2):447-458. View Do research participants share genomic screening results with family members? Abstract

Association of Prenatal Exposure to Maternal Drinking and Smoking With the Risk of Stillbirth. JAMA Netw Open. 2021 08 02; 4(8):e2121726. View Association of Prenatal Exposure to Maternal Drinking and Smoking With the Risk of Stillbirth. Abstract

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 Effects of participation in a U.S. trial of newborn genomic sequencing on parents at risk for depression. Abstract

The Unrecognized Mortality Burden of Genetic Disorders in Infancy. Am J Public Health. 2021 07; 111(S2):S156-S162. View The Unrecognized Mortality Burden of Genetic Disorders in Infancy. Abstract

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 Preferences for Updates on General Research Results: A Survey of Participants in Genomic Research from Two Institutions. Abstract

Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project. Genet Med. 2021 07; 23(7):1372-1375. View Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project. Abstract

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 Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study. Abstract

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 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. Abstract

Genetic Factors Underlying Sudden Infant Death Syndrome. Appl Clin Genet. 2021; 14:61-76. View Genetic Factors Underlying Sudden Infant Death Syndrome. Abstract

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 Returning negative results from large-scale genomic screening: Experiences from the eMERGE III network. Abstract

Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI). Genet Med. 2021 02; 23(2):396-407. View Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI). Abstract

Participant choices for return of genomic results in the eMERGE Network. Genet Med. 2020 11; 22(11):1821-1829. View Participant choices for return of genomic results in the eMERGE Network. Abstract

A de novo BRPF1 variant in a case of Sudden Unexplained Death in Childhood. Eur J Med Genet. 2020 Sep; 63(9):104002. View A de novo BRPF1 variant in a case of Sudden Unexplained Death in Childhood. Abstract

Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020; 5:29. View Children's rare disease cohorts: an integrative research and clinical genomics initiative. Abstract

Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020 Jul 06; 5(1):29. View Children's rare disease cohorts: an integrative research and clinical genomics initiative. Abstract

The role of sodium channels in sudden unexpected death in pediatrics. Mol Genet Genomic Med. 2020 08; 8(8):e1309. View The role of sodium channels in sudden unexpected death in pediatrics. Abstract

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. Genet Med. 2020 08; 22(8):1338-1347. View Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. Abstract

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 Understanding the Return of Genomic Sequencing Results Process: Content Review of Participant Summary Letters in the eMERGE Research Network. Abstract

Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network. J Pers Med. 2020 Apr 27; 10(2). View Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network. Abstract

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 Development of osteoarthritis in patients with degenerative meniscal tears treated with exercise therapy or surgery: a randomized controlled trial. Abstract

Concurrent prenatal drinking and smoking increases risk for SIDS: Safe Passage Study report. EClinicalMedicine. 2020 Feb; 19:100247. View Concurrent prenatal drinking and smoking increases risk for SIDS: Safe Passage Study report. Abstract

FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation. NPJ Genom Med. 2019; 4:32. View FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation. Abstract

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 FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation. Abstract

IgG Fc glycosylation as an axis of humoral immunity in childhood. J Allergy Clin Immunol. 2020 02; 145(2):710-713.e9. View IgG Fc glycosylation as an axis of humoral immunity in childhood. Abstract

Response to Knoppers et al. Genet Med. 2019 10; 21(10):2403. View Response to Knoppers et al. Abstract

Rethinking the "open future" argument against predictive genetic testing of children. Genet Med. 2019 10; 21(10):2190-2198. View Rethinking the "open future" argument against predictive genetic testing of children. Abstract

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 Enrichment sampling for a multi-site patient survey using electronic health records and census data. Abstract

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 Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project. Abstract

Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project. Pediatrics. 2019 01; 143(Suppl 1):S6-S13. View Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project. Abstract

Challenging the Current Recommendations for Carrier Testing in Children. Pediatrics. 2019 01; 143(Suppl 1):S27-S32. View Challenging the Current Recommendations for Carrier Testing in Children. Abstract

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 Returning a Genomic Result for an Adult-Onset Condition to the Parents of a Newborn: Insights From the BabySeq Project. Abstract

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 Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG). Abstract

Parents' attitudes toward consent and data sharing in biobanks: A multisite experimental survey. AJOB Empir Bioeth. 2018 Jul-Sep; 9(3):128-142. View Parents' attitudes toward consent and data sharing in biobanks: A multisite experimental survey. Abstract

Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project. Genet Med. 2019 03; 21(3):622-630. View Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project. Abstract

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 Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report. Abstract

Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs. Healthcare (Basel). 2018 Jul 13; 6(3). View Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs. Abstract

The BabySeq project: implementing genomic sequencing in newborns. BMC Pediatr. 2018 07 09; 18(1):225. View The BabySeq project: implementing genomic sequencing in newborns. Abstract

Physicians' perspectives on receiving unsolicited genomic results. Genet Med. 2019 02; 21(2):311-318. View Physicians' perspectives on receiving unsolicited genomic results. Abstract

Using Newborn Sequencing to Advance Understanding of the Natural History of Disease. Hastings Cent Rep. 2018 Jul; 48 Suppl 2:S45-S46. View Using Newborn Sequencing to Advance Understanding of the Natural History of Disease. Abstract

Expanding the phenotypic spectrum associated with OPHN1 variants. Eur J Med Genet. 2019 Feb; 62(2):137-143. View Expanding the phenotypic spectrum associated with OPHN1 variants. Abstract

Plain-language medical vocabulary for precision diagnosis. Nat Genet. 2018 04; 50(4):474-476. View Plain-language medical vocabulary for precision diagnosis. Abstract

SCN1A variants associated with sudden infant death syndrome. Epilepsia. 2018 04; 59(4):e56-e62. View SCN1A variants associated with sudden infant death syndrome. Abstract

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 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). Abstract

Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network. J Genet Couns. 2018 09; 27(5):1087-1101. View Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network. Abstract

Enhancing Autonomy in Biobank Decisions: Too Much of a Good Thing? J Empir Res Hum Res Ethics. 2018 04; 13(2):125-138. View Enhancing Autonomy in Biobank Decisions: Too Much of a Good Thing? Abstract

Placebo-controlled crossover assessment of mecasermin for the treatment of Rett syndrome. Ann Clin Transl Neurol. 2018 03; 5(3):323-332. View Placebo-controlled crossover assessment of mecasermin for the treatment of Rett syndrome. Abstract

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 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). Abstract

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 Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience. Abstract

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 High-throughput characterization of the functional impact of IgG Fc glycan aberrancy in juvenile idiopathic arthritis. Abstract

Implementing the Single Institutional Review Board Model: Lessons from the Undiagnosed Diseases Network. Clin Transl Sci. 2018 01; 11(1):28-31. View Implementing the Single Institutional Review Board Model: Lessons from the Undiagnosed Diseases Network. Abstract

Prior opioid exposure influences parents' sharing of their children's CYP2D6 research results. Pharmacogenomics. 2017 Aug; 18(13):1199-1213. View Prior opioid exposure influences parents' sharing of their children's CYP2D6 research results. Abstract

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 Preferences for the Return of Individual Results From Research on Pediatric Biobank Samples. Abstract

From Sequence Data to Returnable Results: Ethical Issues in Variant Calling and Interpretation. Genet Test Mol Biomarkers. 2017 Mar; 21(3):178-183. View From Sequence Data to Returnable Results: Ethical Issues in Variant Calling and Interpretation. Abstract

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 Public Attitudes toward Consent and Data Sharing in Biobank Research: A Large Multi-site Experimental Survey in the US. Abstract

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 Pediatric Issues in Return of Results and Incidental Findings: Weighing Autonomy and Best Interests. Abstract

Newborn Sequencing in Genomic Medicine and Public Health. Pediatrics. 2017 Feb; 139(2). View Newborn Sequencing in Genomic Medicine and Public Health. Abstract

A curated gene list for reporting results of newborn genomic sequencing. Genet Med. 2017 07; 19(7):809-818. View A curated gene list for reporting results of newborn genomic sequencing. Abstract

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 Conducting a large, multi-site survey about patients' views on broad consent: challenges and solutions. Abstract

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 A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories. Abstract

Recontacting Pediatric Research Participants for Consent When They Reach the Age of Majority. IRB. 2016 Nov-Dec; 38(6):1-9. View Recontacting Pediatric Research Participants for Consent When They Reach the Age of Majority. Abstract

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 Anterior knee pain following anterior cruciate ligament reconstruction does not increase the risk of patellofemoral osteoarthritis at 15- and 20-year follow-ups. Abstract

Practical considerations for implementing genomic information resources. Experiences from eMERGE and CSER. Appl Clin Inform. 2016 09 21; 7(3):870-82. View Practical considerations for implementing genomic information resources. Experiences from eMERGE and CSER. Abstract

Hippocampal Formation Maldevelopment and Sudden Unexpected Death across the Pediatric Age Spectrum. J Neuropathol Exp Neurol. 2016 Oct; 75(10):981-997. View Hippocampal Formation Maldevelopment and Sudden Unexpected Death across the Pediatric Age Spectrum. Abstract

Suboptimal Clinical Documentation in Young Children with Severe Obesity at Tertiary Care Centers. Int J Pediatr. 2016; 2016:4068582. View Suboptimal Clinical Documentation in Young Children with Severe Obesity at Tertiary Care Centers. Abstract

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 Parental Perception of Self-Empowerment in Pediatric Pharmacogenetic Testing: The Reactions of Parents to the Communication of Actual and Hypothetical CYP2D6 Test Results. Abstract

Electronic Health Record Based Algorithm to Identify Patients with Autism Spectrum Disorder. PLoS One. 2016; 11(7):e0159621. View Electronic Health Record Based Algorithm to Identify Patients with Autism Spectrum Disorder. Abstract

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 Developing an Algorithm to Detect Early Childhood Obesity in Two Tertiary Pediatric Medical Centers. Abstract

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet. 2016 07 07; 99(1):246. View Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Abstract

Genetic variation among 82 pharmacogenes: The PGRNseq data from the eMERGE network. Clin Pharmacol Ther. 2016 08; 100(2):160-9. View Genetic variation among 82 pharmacogenes: The PGRNseq data from the eMERGE network. Abstract

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet. 2016 06 02; 98(6):1051-1066. View Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Abstract

Family health history reporting is sensitive to small changes in wording. Genet Med. 2016 12; 18(12):1308-1311. View Family health history reporting is sensitive to small changes in wording. Abstract

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 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. Abstract

Response to Patryn and Zagaja. Genet Med. 2016 07; 18(7):751. View Response to Patryn and Zagaja. Abstract

Impact of an Electronic Template on Documentation of Obesity in a Primary Care Clinic. Clin Pediatr (Phila). 2016 Oct; 55(12):1152-9. View Impact of an Electronic Template on Documentation of Obesity in a Primary Care Clinic. Abstract

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 A systematic literature review of individuals' perspectives on broad consent and data sharing in the United States. Abstract

When Participants in Genomic Research Grow Up: Contact and Consent at the Age of Majority. J Pediatr. 2016 Jan; 168:226-231.e1. View When Participants in Genomic Research Grow Up: Contact and Consent at the Age of Majority. Abstract

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 Participant Satisfaction With a Preference-Setting Tool for the Return of Individual Research Results in Pediatric Genomic Research. Abstract

The Matchmaker Exchange: a platform for rare disease gene discovery. Hum Mutat. 2015 Oct; 36(10):915-21. View The Matchmaker Exchange: a platform for rare disease gene discovery. Abstract

A GWAS Study on Liver Function Test Using eMERGE Network Participants. PLoS One. 2015; 10(9):e0138677. View A GWAS Study on Liver Function Test Using eMERGE Network Participants. Abstract

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 Evaluation of a home treatment program for cold hypersensitivity using a classical conditioning procedure in patients with hand and arm injuries. Abstract

Data sharing in the undiagnosed diseases network. Hum Mutat. 2015 Oct; 36(10):985-8. View Data sharing in the undiagnosed diseases network. Abstract

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 Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents. Abstract

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 Adrenal Insufficiency in Mitochondrial Disease: A Rare Case of GFER-Related Mitochondrial Encephalomyopathy and Review of the Literature. Abstract

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 The development of a preference-setting model for the return of individual genomic research results. Abstract

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 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? Abstract

Parents are interested in newborn genomic testing during the early postpartum period. Genet Med. 2015 Jun; 17(6):501-4. View Parents are interested in newborn genomic testing during the early postpartum period. Abstract

Clinical Management of Pediatric Genomic Testing. Curr Genet Med Rep. 2014 Dec 01; 2(4):212-215. View Clinical Management of Pediatric Genomic Testing. Abstract

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 Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts, genetically links PLCL1 to speech language development and IL5-IL13 to Eosinophilic Esophagitis. Abstract

Practical guidance on informed consent for pediatric participants in a biorepository. Mayo Clin Proc. 2014 Nov; 89(11):1471-80. View Practical guidance on informed consent for pediatric participants in a biorepository. Abstract

An assessment of clinician and researcher needs for support in the era of genomic medicine. Per Med. 2014 Aug; 11(6):569-579. View An assessment of clinician and researcher needs for support in the era of genomic medicine. Abstract

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 Design and anticipated outcomes of the eMERGE-PGx project: a multicenter pilot for preemptive pharmacogenomics in electronic health record systems. Abstract

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 Return of genomic results to research participants: the floor, the ceiling, and the choices in between. Abstract

Return of results in the genomic medicine projects of the eMERGE network. Front Genet. 2014; 5:50. View Return of results in the genomic medicine projects of the eMERGE network. Abstract

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 An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Abstract

Parents' preferences for return of results in pediatric genomic research. Public Health Genomics. 2014; 17(2):105-14. View Parents' preferences for return of results in pediatric genomic research. Abstract

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 Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome. Abstract

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 Patients with musculoskeletal conditions do less vigorous physical activity and have poorer physical fitness than population controls: a cross-sectional study. Abstract

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 Guidelines for return of research results from pediatric genomic studies: deliberations of the Boston Children's Hospital Gene Partnership Informed Cohort Oversight Board. Abstract

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 Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing. Abstract

EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children. Front Genet. 2013; 4:268. View EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children. Abstract

Proximal tibial pain in a child. Skeletal Radiol. 2013 Sep; 42(9):1333-6. View Proximal tibial pain in a child. Abstract

Proximal tibial pain in a child. Skeletal Radiol. 2013 Sep; 42(9):1297-9, 1333-6. View Proximal tibial pain in a child. Abstract

Recommendations for returning genomic incidental findings? We need to talk! Genet Med. 2013 Nov; 15(11):854-9. View Recommendations for returning genomic incidental findings? We need to talk! Abstract

Peripheral blood gene expression signature differentiates children with autism from unaffected siblings. Neurogenetics. 2013 May; 14(2):143-52. View Peripheral blood gene expression signature differentiates children with autism from unaffected siblings. Abstract

Characteristics and predictive value of blood transcriptome signature in males with autism spectrum disorders. PLoS One. 2012; 7(12):e49475. View Characteristics and predictive value of blood transcriptome signature in males with autism spectrum disorders. Abstract

Multiple juvenile idiopathic arthritis subtypes demonstrate proinflammatory IgG glycosylation. Arthritis Rheum. 2012 Sep; 64(9):3025-33. View Multiple juvenile idiopathic arthritis subtypes demonstrate proinflammatory IgG glycosylation. Abstract

Inheritance of febrile seizures in sudden unexplained death in toddlers. Pediatr Neurol. 2012 Apr; 46(4):235-9. View Inheritance of febrile seizures in sudden unexplained death in toddlers. Abstract

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 The beliefs, motivations, and expectations of parents who have enrolled their children in a genetic biorepository. Abstract

The Informed Cohort Oversight Board: From Values to Architecture. Minn J Law Sci Technol. 2012; 13(2):669-690. View The Informed Cohort Oversight Board: From Values to Architecture. Abstract

A clinician's guide to X-linked hypophosphatemia. J Bone Miner Res. 2011 Jul; 26(7):1381-8. View A clinician's guide to X-linked hypophosphatemia. Abstract

Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. PLoS Genet. 2011 Apr; 7(4):e1002050. View Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. Abstract

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 Lack of association of the serotonin transporter polymorphism with the sudden infant death syndrome in the San Diego Dataset. Abstract

Cognitive and behavioral characterization of 16p11.2 deletion syndrome. J Dev Behav Pediatr. 2010 Oct; 31(8):649-57. View Cognitive and behavioral characterization of 16p11.2 deletion syndrome. Abstract

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 The association between radiographic knee osteoarthritis and knee symptoms, function and quality of life 10-15 years after anterior cruciate ligament reconstruction. Abstract

Clinical genetic testing for patients with autism spectrum disorders. Pediatrics. 2010 Apr; 125(4):e727-35. View Clinical genetic testing for patients with autism spectrum disorders. Abstract

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 Serotonin-related FEV gene variant in the sudden infant death syndrome is a common polymorphism in the African-American population. Abstract

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 Differences in the prevalence of growth, endocrine and vitamin D abnormalities among the various thalassaemia syndromes in North America. Abstract

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 Comment on "Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients". Abstract

Bone disease in thalassemia: a frequent and still unresolved problem. J Bone Miner Res. 2009 Mar; 24(3):543-57. View Bone disease in thalassemia: a frequent and still unresolved problem. Abstract

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 Do short courses of oral corticosteroids and use of inhaled corticosteroids affect bone health in children? Abstract

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 Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. Abstract

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 The 88th Annual Meeting of the Endocrine Society, June 24-27, 2006, Boston MA, USA: selected pediatric presentations. Abstract

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 Can acute administration of pamidronate help to preserve bone mass in children with severe burn injury? Abstract

Medicine. Reestablishing the researcher-patient compact. Science. 2007 May 11; 316(5826):836-7. View Medicine. Reestablishing the researcher-patient compact. Abstract

Effects of pharmacologic agents on bone in childhood: an editorial overview. Pediatrics. 2007 Mar; 119 Suppl 2:S125-30. View Effects of pharmacologic agents on bone in childhood: an editorial overview. Abstract

The state of pediatric bone: summary of the ASBMR pediatric bone initiative. J Bone Miner Res. 2005 Dec; 20(12):2075-81. View The state of pediatric bone: summary of the ASBMR pediatric bone initiative. Abstract

Smoking and other lifestyle factors and the risk of Graves' hyperthyroidism. Arch Intern Med. 2005 Jul 25; 165(14):1606-11. View Smoking and other lifestyle factors and the risk of Graves' hyperthyroidism. Abstract

Locomotion skills in adults with cerebral palsy. Clin Rehabil. 2004 May; 18(3):309-16. View Locomotion skills in adults with cerebral palsy. Abstract

Abnormal distribution and hyperplasia of thyroid C-cells in PTEN-associated tumor syndromes. Endocr Pathol. 2004; 15(1):55-64. View Abnormal distribution and hyperplasia of thyroid C-cells in PTEN-associated tumor syndromes. Abstract

Coping potential and disability--sense of coherence in adults with cerebral palsy. Disabil Rehabil. 2002 Jul 10; 24(10):511-8. View Coping potential and disability--sense of coherence in adults with cerebral palsy. Abstract

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 Four-strand hamstring tendon autograft compared with patellar tendon-bone autograft for anterior cruciate ligament reconstruction. A randomized study with two-year follow-up. Abstract

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 Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets. Abstract

Phosphate wasting in oncogenic osteomalacia: PHEX is normal and the tumor-derived factor has unique properties. Bone. 2001 Apr; 28(4):430-9. View Phosphate wasting in oncogenic osteomalacia: PHEX is normal and the tumor-derived factor has unique properties. Abstract

Glycogen storage diseases. Phenotypic, genetic, and biochemical characteristics, and therapy. Endocrinol Metab Clin North Am. 1999 Dec; 28(4):801-23. View Glycogen storage diseases. Phenotypic, genetic, and biochemical characteristics, and therapy. Abstract

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 Prospective study of changes in impairments and disabilities after anterior cruciate ligament reconstruction. Abstract

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Mutational analysis of PHEX gene in X-linked hypophosphatemia. J Clin Endocrinol Metab. 1998 Oct; 83(10):3615-23. View Mutational analysis of PHEX gene in X-linked hypophosphatemia. Abstract

Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. Am J Hum Genet. 1997 Apr; 60(4):790-7. View Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. Abstract

Oxidative phosphorylation defect associated with primary adrenal insufficiency. J Pediatr. 1996 May; 128(5 Pt 1):688-92. View Oxidative phosphorylation defect associated with primary adrenal insufficiency. Abstract

Different responses of skeletal muscle following sprint training in men and women. Eur J Appl Physiol Occup Physiol. 1996; 74(4):375-83. View Different responses of skeletal muscle following sprint training in men and women. Abstract

Effect of familial hypophosphatemic rickets on dental development: a controlled, longitudinal study. Pediatr Dent. 1995 Sep-Oct; 17(5):346-50. View Effect of familial hypophosphatemic rickets on dental development: a controlled, longitudinal study. Abstract

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 Cloning and sequencing of an intronless mouse S-adenosylmethionine decarboxylase gene coding for a functional enzyme strongly expressed in the liver. Abstract

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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 Muscle function after mid-shaft femoral shortening. A prospective study with a two-year follow-up. Abstract

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Bilateral femoral shortening for unaccepted tallness. J Bone Joint Surg Br. 1992 May; 74(3):406-8. View Bilateral femoral shortening for unaccepted tallness. Abstract

Hypervitaminosis D associated with drinking milk. N Engl J Med. 1992 Apr 30; 326(18):1173-7. View Hypervitaminosis D associated with drinking milk. Abstract

Site of pyruvate formation and processing of mammalian S-adenosylmethionine decarboxylase proenzyme. J Biol Chem. 1989 Dec 15; 264(35):21073-9. View Site of pyruvate formation and processing of mammalian S-adenosylmethionine decarboxylase proenzyme. Abstract

Recurrent hypothermia and thrombocytopenia after severe neonatal brain infection. Clin Pediatr (Phila). 1988 Jul; 27(7):326-9. View Recurrent hypothermia and thrombocytopenia after severe neonatal brain infection. Abstract

An unusual pattern of malformation associated with gestational exposure to nasal spray. J Pediatr. 1985 May; 106(5):860-1. View An unusual pattern of malformation associated with gestational exposure to nasal spray. Abstract

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