I. Holm

发表

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

Jonathan P. Bickel, Marc S. Williams, I. Kohane, 2016, Applied Clinical Informatics.

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

Orion J. Buske, Danielle R Azzariti, G. J. Swaminathan, 2015, Human mutation.

Electronic Health Record Based Algorithm to Identify Patients with Autism Spectrum Disorder

Finale Doshi-Velez, Pei Chen, Joseph Bochenek, 2016, PloS one.

Recommendations for returning genomic incidental findings? We need to talk!

B. Knoppers, E. Clayton, M. Khoury, 2013, Genetics in Medicine.

The BabySeq project: implementing genomic sequencing in newborns

R. Green, H. Rehm, S. Waisbren, 2018, BMC Pediatrics.

Participant choices for return of genomic results in the eMERGE Network

John J. Connolly, David C. Kochan, W. Chung, 2020, Genetics in Medicine.

The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network.

Marc S. Williams, W. Chung, H. Hakonarson, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

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

Heidi L Rehm, Susan M Wolf, Laura M Amendola, 2014, American journal of human genetics.

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

Jonathan S Berg, Ingrid A Holm, Yvonne Bombard, 2015, American journal of human genetics.

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)

B. Wilfond, I. Holm, K. David, 2018, Genetics in Medicine.

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

Joshua L. Deignan, W. Chung, N. Spinner, 2016, Genetics in Medicine.

Parental Interest in Genomic Sequencing of Newborns: Enrollment Experience from the BabySeq Project

R. Green, S. Waisbren, A. McGuire, 2018, Genetics in Medicine.

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

Joshua L. Deignan, David T. Miller, R. Pyeritz, 2018, Genetics in Medicine.

Physicians' Perspectives on Receiving Unsolicited Genomic Results

Laurie L. Novak, Ingrid A. Holm, Melanie F. Myers, 2018, Genetics in Medicine.

Design and Anticipated Outcomes of the eMERGE-PGx Project: A Multi-Center Pilot for Pre-Emptive Pharmacogenomics in Electronic Health Record Systems

Suzette J. Bielinski, Christopher G. Chute, Marylyn D. Ritchie, 2014, Clinical pharmacology and therapeutics.

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

Nikhil Wagle, Peter Tarczy-Hornoch, Richard M Myers, 2016, American journal of human genetics.

A GWAS Study on Liver Function Test Using eMERGE Network Participants

Keith Marsolo, Marylyn D. Ritchie, Shefali S. Verma, 2015, PloS one.

Skeletal Complications of Childhood Cancer

I. Holm, 2013 .

Implementing the Single Institutional Review Board Model: Lessons from the Undiagnosed Diseases Network

I. Holm, S. Hull, A. Wise, 2017, Clinical and translational science.

Familial Hypophosphatemia and Related Disorders

M. Econs, I. Holm, T. Carpenter, 2012 .

CHAPTER 25 – Familial Hypophosphatemia and Related Disorders

I. Holm, T. Carpenter, J. M. Econs., 2003 .

Using Newborn Sequencing to Advance Understanding of the Natural History of Disease.

I. Holm, 2018, The Hastings Center report.

Parents' Preferences for Return of Results in Pediatric Genomic Research

R. Green, I. Holm, E. Weitzman, 2014, Public Health Genomics.

Challenges in clinical assessment of bone density and quality in children

I. Holm, 2006 .

In the Early Postpartum Period, Parents are Interested in Newborn Genomic Testing

R. Green, S. Waisbren, Sarah S Kalia, 2014, Genetics in medicine : official journal of the American College of Medical Genetics.

Reestablishing the Researcher-Patient Compact

Kenneth D. Mandl, Isaac S. Kohane, Daniel J. Nigrin, 2007, Science.

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

R. Green, I. Holm, K. Christensen, 2017, Journal of empirical research on human research ethics : JERHRE.

Characteristics and Predictive Value of Blood Transcriptome Signature in Males with Autism Spectrum Disorders

In-Hee Lee, Isaac S. Kohane, Sek Won Kong, 2012, PloS one.

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

D. Rimoin, I. Holm, C. Bacino, 2009, American journal of human genetics.

Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network

Sharyn A. Lincoln, J. Sinsheimer, K. Schoch, 2018, Journal of Genetic Counseling.

Health Supervision for Children and Adolescents With Down Syndrome.

Randall W. Grout, J. A. Scott, J. Stoler, 2022, Pediatrics.

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

John A. Lynch, David C. Kochan, Marc S. Williams, 2020, Journal of personalized medicine.

Characteristics of undiagnosed diseases network applicants: implications for referring providers

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, BMC Health Services Research.

EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children

Keith Marsolo, Isaac S. Kohane, Todd Lingren, 2013, Front. Genet..

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.

Matthew H. Brush, Mercedes E. Alejandro, Gabriel F. Batzli, 2019, Clinical imaging.

Mutational analysis of PHEX gene in X-linked hypophosphatemia.

D. Schlessinger, I. Holm, R. Thakker, 1998, The Journal of clinical endocrinology and metabolism.

Parental Attitudes Toward Standard Newborn Screening and Newborn Genomic Sequencing: Findings From the BabySeq Study

A. McGuire, A. Beggs, I. Holm, 2022, Frontiers in Genetics.

Current Trends in Genetics and Neonatal Care

I. Holm, M. Uveges, 2021, Advances in neonatal care : official journal of the National Association of Neonatal Nurses.

Prior opioid exposure influences parents' sharing of their children's CYP2D6 research results.

I. Holm, M. Myers, Cassandra L. Perry, 2017, Pharmacogenomics.

Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project

Matthew S. Lebo, R. Green, H. Rehm, 2021, Genetics in Medicine.

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

S. Kingsmore, S. Brenner, J. Berg, 2019, NPJ genomic medicine.

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

S. Kingsmore, S. Brenner, J. Berg, 2019, npj Genomic Medicine.

A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network

Matthew H. Brush, Trevor S. Frisby, Sarah E. Gould, 2017, Orphanet Journal of Rare Diseases.

Hypervitaminosis D associated with drinking milk.

I. Holm, G. Fuleihan, E. Seely, 1992, The New England journal of medicine.

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

Robert C. Green, Matthew S. Lebo, Heidi L. Rehm, 2018, Cold Spring Harbor molecular case studies.

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

Robert C. Green, Steven Joffe, Patrick L. Taylor, 2014, Genetics in Medicine.

The Informed Cohort Oversight Board: From Values to Architecture.

Patrick L. Taylor, I. Holm, 2012, Minnesota journal of law, science & technology.

A clinician's guide to X‐linked hypophosphatemia

I. Holm, K. Insogna, T. Carpenter, 2011, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

SCN1A variants associated with sudden infant death syndrome

Christopher H. Thompson, C. H. Thompson, H. Kinney, 2018, Epilepsia.

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

Meghan C Towne, A. Beggs, I. Holm, 2016, PloS one.

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

I. Holm, K. Ackerman, P. Miller, 2021, BMJ Open.

Concurrent prenatal drinking and smoking increases risk for SIDS: Safe Passage Study report

W. Fifer, H. Kinney, D. Roberts, 2020, EClinicalMedicine.

Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs

John J. Connolly, Marc S. Williams, W. Chung, 2018, Healthcare.

When Participants in Genomic Research Grow Up: Contact and Consent at the Age of Majority.

Melissa A. Basford, John A. Lynch, Terrie E. Kitchner, 2016, The Journal of pediatrics.

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

Melissa L McPheeters, Nila A Sathe, Ellen W Clayton, 2015, Genetics in Medicine.

Response to Patryn and Zagaja

E. Clayton, Maureen E. Smith, I. Holm, 2016, Genetics in Medicine.

Effects of Pharmacologic Agents on Bone in Childhood: An Editorial Overview

L. Bachrach, I. Holm, G. Klein, 2007, Pediatrics.

Association of Prenatal Exposure to Maternal Drinking and Smoking With the Risk of Stillbirth

W. Fifer, H. Kinney, D. Roberts, 2021, JAMA network open.

Inconsistent classification of unexplained sudden deaths in infants and children hinders surveillance, prevention and research: recommendations from The 3rd International Congress on Sudden Infant and Child Death

R. Anderson, E. Mitchell, I. Holm, 2019, Forensic Science, Medicine and Pathology.

Oxidative phosphorylation defect associated with primary adrenal insufficiency.

I. Holm, J. Shoffner, K. North, 1996, The Journal of pediatrics.

Erratum: Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716301069) (10.1016/j.ajhg.2016.04.011))

Sara Chandros Hull, Robert C. Green, Sean D. Mooney, 2016 .

Returning negative results from large‐scale genomic screening: Experiences from the eMERGE III network

John A. Lynch, W. Chung, I. Kullo, 2020, American journal of medical genetics. Part A.

Phosphate wasting in oncogenic osteomalacia: PHEX is normal and the tumor-derived factor has unique properties.

J. Hogan, I. Holm, R. Mason, 2001, Bone.

Approaches to Genetic Testing

Yiping Shen, I. Holm, Christina M. Jacobsen, 2013, Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism.

Proximal tibial pain in a child

I. Holm, M. Gebhardt, H. Kozakewich, 2013, Skeletal Radiology.

Proximal tibial pain in a child

I. Holm, M. Gebhardt, H. Kozakewich, 2013, Skeletal Radiology.

Recontacting Pediatric Research Participants for Consent When They Reach the Age of Majority.

B. Knoppers, I. Holm, K. Sénécal, 2016, IRB.

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

C. Cowell, I. Holm, D. Marsh, 2001, The Journal of clinical endocrinology and metabolism.

Rethinking the “Open Future” Argument against Predictive Genetic Testing of Children

W. Chung, J. Mcewen, B. Wilfond, 2019, Genetics in Medicine.

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

John J. Connolly, H. Lehmann, P. Caraballo, 2021, Journal of personalized medicine.

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

C. Brownstein, I. Holm, S. Jacquemont, 2022, Advanced genetics.

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

I. Holm, 2009, Nature Clinical Practice Endocrinology &Metabolism.

Data Sharing in the Undiagnosed Diseases Network

C. Brownstein, I. Holm, R. Ramoni, 2015, Human mutation.

A de novo BRPF1 variant in a case of Sudden Unexplained Death in Childhood.

C. Brownstein, I. Holm, C. Geffre, 2020, European journal of medical genetics.

Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)

C. Scharfe, I. Holm, K. Swoboda, 2022, Frontiers in Genetics.

Attitudes among Parents towards Return of Disease-Related Polygenic Risk Scores (PRS) for Their Children

John J. Connolly, H. Hakonarson, I. Holm, 2022, Journal of personalized medicine.

Outcomes of Returning Medically Actionable Genomic Results in Pediatric Research

John J. Connolly, H. Hakonarson, E. Clayton, 2022, Journal of personalized medicine.

Trans-National Equitable Strategies of Vaccine Distribution during the COVID-19 Pandemic

Paul L. Heslop, I. Holm, D. Domingo, 2021 .

Smoking and other lifestyle factors and the risk of Graves' hyperthyroidism.

J. Manson, W. Willett, I. Holm, 2005, Archives of internal medicine.

Placebo‐controlled crossover assessment of mecasermin for the treatment of Rett syndrome

Heather M. O'Leary, K. Kapur, C. Nelson, 2018, Annals of clinical and translational neurology.

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

Heather M. O'Leary, M. Sur, K. Kapur, 2014, Proceedings of the National Academy of Sciences.

Genetic Factors Underlying Sudden Infant Death Syndrome

I. Holm, A. Poduri, R. Goldstein, 2021, The application of clinical genetics.

Multiple juvenile idiopathic arthritis subtypes demonstrate proinflammatory IgG glycosylation.

Michael G. Barnes, D. Foell, L. Henderson, 2012, Arthritis and rheumatism.

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

Keith Marsolo, Marylyn D. Ritchie, Aleksey A. Porollo, 2014, Front. Genet..

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

F. Trachtenberg, I. Holm, M. Fleisher, 2009, British journal of haematology.

Bone Disease in Thalassemia: A Frequent and Still Unresolved Problem

I. Holm, M. Fleisher, E. Vichinsky, 2008, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Children’s rare disease cohorts: an integrative research and clinical genomics initiative

David A. Williams, Piotr Sliz, Lily Wang, 2020, npj Genomic Medicine.

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

Adam P. DeLuca, Matthew S. Lebo, Janeen L Andorf, 2014, Genome Biology.

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

Daniel Nilsson, Peter Szolovits, Karen Eilbeck, 2014, Genome Biology.

Peripheral blood gene expression signature differentiates children with autism from unaffected siblings

I. Kohane, S. Kong, In-Hee Lee, 2013, neurogenetics.

Clinical Genetic Testing for Patients With Autism Spectrum Disorders

Sharyn A. Lincoln, C. Walsh, K. Miller, 2010, Pediatrics.

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.

Robert C. Green, Keith Marsolo, Casey Overby Taylor, 2019, American journal of human genetics.

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

Sarah E. Gould, David R. Murdock, Jean M. Davidson, 2019, Nature Medicine.

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

Jonathan S. Schildcrout, Stephanie M. Fullerton, Gail P. Jarvik, 2017, American journal of human genetics.

GLYCOGEN STORAGE DISEASES: Phenotypic, Genetic, and Biochemical Characteristics, and Therapy

I. Holm, D. A. Weinstein, J. Wolfsdorf, 1999 .

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

F. Faucz, C. Stratakis, I. Holm, 2014, The Journal of clinical endocrinology and metabolism.

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Orphanet Journal of Rare Diseases.

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Genetics in Medicine.

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

Iftikhar J. Kullo, Gail P. Jarvik, Rongling Li, 2018, Journal of personalized medicine.

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

Matthew S. Lebo, R. Green, H. Rehm, 2019, American journal of human genetics.

Newborn Sequencing in Genomic Medicine and Public Health

N. Risch, P. Kwok, R. Green, 2017, Pediatrics.

A curated gene list for reporting results of newborn genomic sequencing

Matthew S. Lebo, H. Rehm, A. McGuire, 2017, Genetics in Medicine.

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

R. Green, S. Waisbren, A. McGuire, 2021, JAMA pediatrics.

Effect of familial hypophosphatemic rickets on dental development: a controlled, longitudinal study.

I. Holm, H. Needleman, W. Seow, 1995, Pediatric dentistry.

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

Patrick L. Taylor, R. Green, I. Holm, 2012, Genetics in Medicine.

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Cognitive and Behavioral Characterization of 16p11.2 Deletion Syndrome

Yiping Shen, David T. Miller, Bai-Lin Wu, 2010, Journal of developmental and behavioral pediatrics : JDBP.

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

N. Spinner, K. Ormond, J. Belmont, 2015, American Journal of Human Genetics.

Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network

Marc S. Williams, W. Chung, R. Green, 2020, Journal of personalized medicine.

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

I. Holm, 2017, Genetic testing and molecular biomarkers.

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

R. Green, I. Holm, K. Christensen, 2015, Journal of empirical research on human research ethics : JERHRE.

The Development of a Preference-Setting Model for the Return of Individual Genomic Research Results

R. Green, I. Holm, E. Weitzman, 2015, Journal of empirical research on human research ethics : JERHRE.

Medicine. Reestablishing the researcher-patient compact.

Isaac S Kohane, Kenneth D Mandl, Ingrid A Holm, 2007, Science.

From Sequence Data to Returnable Results: Ethical Issues in Variant Calling and Interpretation.

Timothy W Yu, Ingrid A Holm, Steven Joffe, 2017, Genetic testing and molecular biomarkers.

Practical guidance on informed consent for pediatric participants in a biorepository.

John A. Lynch, John J. Connolly, Jennifer B. McCormick, 2014, Mayo Clinic proceedings.

Enhancing Autonomy in Biobank Decisions: Too Much of a Good Thing?

R. Green, I. Holm, D. Mathews, 2018, Journal of empirical research on human research ethics : JERHRE.

Recurrent Hypothermia and Thrombocytopenia After Severe Neonatal Brain Infection

I. Holm, K. Feldman, J. McLaughlin, 1988, Clinical pediatrics.

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

Morgan E. Nelson, W. Fifer, H. Kinney, 2021, Frontiers in Neurology.

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)

H. Rehm, A. Hamosh, C. Martin, 2018, Genetics in Medicine.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Matthew H. Brush, David R. Murdock, Jean M. Davidson, 2019, Biological psychiatry.

Expanding the phenotypic spectrum associated with OPHN1 variants.

Meghan C Towne, A. Beggs, I. Holm, 2019, European journal of medical genetics.

The role of sodium channels in sudden unexpected death in pediatrics

C. Brownstein, I. Holm, E. Pérez-Palma, 2018, bioRxiv.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, npj Genomic Medicine.

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

A Comprehensive Iterative Approach is Highly Effective in Diagnosing Individuals who are Exome Negative

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, Genetics in Medicine.

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

E. Zackai, J. Lupski, R. Gibbs, 2020, Genetics in Medicine.

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, American journal of human genetics.

Children’s rare disease cohorts: an integrative research and clinical genomics initiative

C. Brownstein, Andrew Quitadamo, T. Yu, 2020, npj Genomic Medicine.

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

R. Green, H. Rehm, A. McGuire, 2019, Pediatrics.

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

J. Brownstein, M. Haendel, C. Brownstein, 2020, Journal of medical Internet research.

Childhood Bone Mass Acquisition and Peak Bone Mass May Not Be Important Determinants of Bone Mass in Late Adulthood

L. Bachrach, I. Holm, G. Klein, 2007 .

Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.

L. Kunkel, I. Holm, Xin Huang, 1997, American journal of human genetics.

Challenging the Current Recommendations for Carrier Testing in Children

R. Green, A. McGuire, A. Beggs, 2019, Pediatrics.

Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome

J. Seidman, M. Vikkula, I. Holm, 2011, PLoS genetics.

Family Health History Reporting is Sensitive to Small Changes in Wording

R. Green, I. Holm, K. Christensen, 2016, Genetics in Medicine.

Inheritance of febrile seizures in sudden unexplained death in toddlers.

H. Kinney, M. Grafe, I. Holm, 2012, Pediatric neurology.

H. Kinney, A. Beggs, I. Holm, 2009, Pediatric Research.

Chapter 10 – Genetic Testing and Counseling

Yiping Shen, I. Holm, S. Brewster, 2018 .

Genetic Testing and Counseling

Yiping Shen, I. Holm, S. Brewster, 2013 .

Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

One is the loneliest number: genotypic matchmaking using the electronic health record

Leigh Anne Tang, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

An assessment of clinician and researcher needs for support in the era of genomic medicine.

J. Stoler, C. Brownstein, I. Holm, 2014, Personalized medicine.

Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project

R. Green, A. McGuire, A. Beggs, 2019, Pediatrics.

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

R. Green, S. Waisbren, A. McGuire, 2021, Journal of genetic counseling.

Impact of an Electronic Template on Documentation of Obesity in a Primary Care Clinic

J. Hirschhorn, S. Osganian, I. Holm, 2016, Clinical pediatrics.

Suboptimal Clinical Documentation in Young Children with Severe Obesity at Tertiary Care Centers

Todd Lingren, Jonathan P. Bickel, Isaac S Kohane, 2016, International journal of pediatrics.

Adrenal Insufficiency in Mitochondrial Disease

I. Holm, L. Teot, I. Anselm, 2016, Journal of child neurology.

Practical considerations for implementing genomic information resources

Christopher G Chute, Jyotishman Pathak, Joshua C Denny, 2016, Applied Clinical Informatics.

B. Wilfond, I. Holm, K. David, 2018, Genetics in Medicine.

The Unrecognized Mortality Burden of Genetic Disorders in Infancy.

I. Holm, M. Wojcik, W. Tan, 2021, American journal of public health.

Prospective phenotyping of long-term survivors of Generalized Arterial Calcification of Infancy (GACI)

Ellen F. Macnamara, E. Chew, E. Dikoglu, 2020, Genetics in Medicine.

The State of Pediatric Bone: Summary of the ASBMR Pediatric Bone Initiative

I. Holm, M. Leonard, B. Specker, 2005, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Plain-language medical vocabulary for precision diagnosis

Tudor Groza, Michael Bamshad, Chris Mungall, 2018, Nature Genetics.

Do research participants share genomic screening results with family members?

W. Chung, P. Appelbaum, I. Kullo, 2021, Journal of genetic counseling.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

William E. Byrd, David R. Murdock, Marni J. Falk, 2020, Brain : a journal of neurology.

Lack of Association of the Serotonin Transporter Polymorphism With the Sudden Infant Death Syndrome in the San Diego Dataset

H. Kinney, F. Trachtenberg, I. Holm, 2010, Pediatric Research.

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, American journal of human genetics.

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.

William E. Byrd, Marni J. Falk, Laurel A. Cobban, 2023, The Journal of pediatrics.

Participation in a national diagnostic research study: assessing the patient experience

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, Orphanet Journal of Rare Diseases.

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

I. Holm, B. Adamczyk, P. Rudd, 2017, Glycobiology.

Hypochondroplasia and epilepsy: the neurological spectrum of FGFR3 mutations

I. Holm, J. Peters, E. Yang, 2018 .

Hypochondroplasia and epilepsy : temporal lobe dysgenesis in FGFR 3 mutations

I. Holm, J. Peters, E. Yang, 2018 .

Physicians' Perspectives on Receiving Unsolicited Genomic Results

E. Clayton, I. Holm, M. Myers, 2018, Genetics in Medicine.

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

Jill A. Madden, E. Clayton, I. Holm, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

A Clinician's Guide to X‐Linked Hypophosphatemia

I. Holm, K. Insogna, T. Carpenter, 2015 .

IgG Fc glycosylation as an axis of humoral immunity in childhood.

L. Notarangelo, G. Driessen, I. Holm, 2020, The Journal of allergy and clinical immunology.

In the Early Postpartum Period, Parents are Interested in Newborn Genomic Testing

R. Green, S. Waisbren, Sarah S Kalia, 2014, Genetics in Medicine.

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

Matthew S. Lebo, H. Rehm, S. Waisbren, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Returning Individual Research Results from Digital Phenotyping in Psychiatry.

Adam S. Miner, Francis X. Shen, C. Grady, 2023, The American journal of bioethics : AJOB.

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, Orphanet Journal of Rare Diseases.

Initial Study of rh-IGF1 (Mecasermin [DNA] Injection) for Treatment of Rett Syndrome and Development of Rett-Specific Novel Biomarkers of Cortical and Autonomic Function (S28.005)

Heather M. O'Leary, M. Sur, M. Gregas, 2012 .

Return of results in the genomic medicine projects of the eMERGE network

Iftikhar J. Kullo, Helena Kuivaniemi, Gail P. Jarvik, 2014, Front. Genet..

TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system

E. M. DeGennaro, Sarah E. Gould, David R. Murdock, 2023, Proceedings of the National Academy of Sciences of the United States of America.

Genetic Determinants of Sudden Unexpected Death in Pediatrics.

C. Brownstein, I. Holm, A. Poduri, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Studying the impact of translational genomic research: Lessons from eMERGE

John J. Connolly, S. Fullerton, E. Clayton, 2023, American journal of human genetics.

Returning integrated genomic risk and clinical recommendations: the eMERGE study.

Melissa L. Habrat, Jorge A. Alsip, Kathleen F. Mittendorf, 2023, Genetics in medicine : official journal of the American College of Medical Genetics.

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

Matthew S. Lebo, Victoria A. Miller, Jeffrey W. Pennington, 2016, American journal of human genetics.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

Hippocampal Formation Maldevelopment and Sudden Unexpected Death across the Pediatric Age Spectrum

H. Kinney, S. Warfield, L. Sleeper, 2016, Journal of neuropathology and experimental neurology.

An unusual pattern of malformation associated with gestational exposure to nasal spray.

S. Clarren, I. Holm, 1985, The Journal of pediatrics.

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

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

Sarah C. Stallings, Jonathan S. Schildcrout, Gail P. Jarvik, 2019, J. Am. Medical Informatics Assoc..

Genetic variation among 82 pharmacogenes: The PGRNseq data from the eMERGE network

Melissa A. Basford, John J. Connolly, Terrie E. Kitchner, 2016, Clinical pharmacology and therapeutics.

Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network

Sharyn A. Lincoln, Rebecca C. Spillmann, J. Sinsheimer, 2018, Journal of Genetic Counseling.

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

Matthew S. Lebo, H. Rehm, A. McGuire, 2023, American journal of human genetics.

Perspectives of Rare Disease Experts on Newborn Genome Sequencing

R. Ganetzky, I. Holm, J. Wiggs, 2023, JAMA network open.

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

John A. Lynch, I. Holm, M. Myers, 2017, Health communication.

Genetic Determinants of Sudden Unexpected Death in Pediatrics.

C. Brownstein, I. Holm, A. Poduri, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Parents’ attitudes toward consent and data sharing in biobanks: A multisite experimental survey

Jennifer B. McCormick, S. Fullerton, E. Clayton, 2018, AJOB empirical bioethics.

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

Joseph S. Salama, W. Chung, I. Krantz, 2016, American journal of human genetics.

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

R. Green, H. Rehm, A. McGuire, 2019, Pediatrics.

VarSight: prioritizing clinically reported variants with binary classification algorithms

Gabor T. Marth, David R. Murdock, Alexander C. Moss, 2019, BMC Bioinformatics.

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

Jonathan S. Schildcrout, Melissa A. Basford, Stephanie M. Fullerton, 2016, BMC Medical Research Methodology.

NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders

C. Scharfe, I. Holm, A. Brower, 2023, International journal of neonatal screening.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Matthew H. Brush, Gabor T. Marth, John Arul Phillips, 2019, American journal of human genetics.

Inheritance of febrile seizures in sudden unexplained death in toddlers.

H. Kinney, M. Grafe, I. Holm, 2012, Pediatric neurology.