Assistant Professor of Pediatrics, Boston Children's Hospital
Medical Genetics
Dr. Ingrid A. Holm, MD
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Ingrid Holm practices Medical Genetics. She graduated from David Geffen School of Medicine at UCLA. David Geffen School of Medicine at UCLA is one of the top medical schools in the US. David Geffen School of Medicine at UCLA has a rank of 13 in research and a 7 in primary care Ingrid A. Holm, MD is a published doctor and has 26 publications published. The lastest was: 'A systematic literature review of individuals' perspectives on broad consent and data sharing in the United States.'
Publications
- A systematic literature review of individuals' perspectives on broad consent and data sharing in the United States.
- The development of a preference-setting model for the return of individual genomic research results.
- Parents are interested in newborn genomic testing during the early postpartum period.
- Clinical Management of Pediatric Genomic Testing.
- Design and Anticipated Outcomes of the eMERGE-PGx Project: A Multicenter Pilot for Preemptive Pharmacogenomics in Electronic Health Record Systems.
- Guidelines for return of research results from pediatric genomic studies: deliberations of the Boston Children's Hospital Gene Partnership Informed Cohort Oversight Bo...
- Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome.
- Parents' Preferences for Return of Results in Pediatric Genomic Research.
- Peripheral blood gene expression signature differentiates children with autism from unaffected siblings.
- Proximal tibial pain in a child.
- Characteristics and predictive value of blood transcriptome signature in males with autism spectrum disorders.
- Inheritance of febrile seizures in sudden unexplained death in toddlers.
- The beliefs, motivations, and expectations of parents who have enrolled their children in a genetic biorepository.
- A clinician's guide to X-linked hypophosphatemia.
- Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome.
- Lack of association of the serotonin transporter polymorphism with the sudden infant death syndrome in the San Diego Dataset.
- Serotonin-related FEV gene variant in the sudden infant death syndrome is a common polymorphism in the African-American population.
- Comment on "Autistic-like phenoTypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients".
- Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski Type and metatropic dysplasia.
- Medicine. Reestablishing the researcher-patient compact.
- Effects of pharmacologic agents on bone in childhood: an editorial overview.
- Smoking and other lifestyle factors and the risk of Graves' hyperthyroidism.
- Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts, genetically links PLCL1 to speech language development and IL5-IL13 to Eosinophilic Esophagitis.
- EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children.
- Adrenal Insufficiency in Mitochondrial Disease: A Rare Case of GFER-Related Mitochondrial Encephalomyopathy and Review of the Literature.
Schools
University of California At Los Angeles
Children39s Hospital Boston
Conditions Treated
- Diabetes Type 1
Doctors Specialties
- Pediatric Endocrinology
- Medical Genetics
Accepted Insurances
Education
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Boston Children's Hospital -
David Geffen School of Medicine at UCLA
Hospital
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Brigham and Women's Hospital -
Boston Children's Hospital
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