Ingrid A. Holm

Pacific Northwest Diabetes Research Institute — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

64h-index15.3kcitations319works5.92yr avg
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Research Topics

Genomics and Rare Diseases(119), BRCA gene mutations in cancer(53), Ethics in Clinical Research(43), Genomic variations and chromosomal abnormalities(37), Genetics and Neurodevelopmental Disorders(34)

Publications272 total

Rare and resilient: Longer-term experiences of families after genetic evaluation in the neonatal intensive care unit
Genetics in Medicine Open·2025Open Access
Healthcare professionals’ experiences returning monogenic, polygenic, and integrated risk results in the eMERGE study
Human Genetics and Genomics Advances·2025Open Access
Abstract 4361649: Polysocial Risk Scores and Genetic Risk Factors Are Independently and Additively Associated with Cardiometabolic Diseases Across Self-Identified Race/Ethnicity Groups
Circulation·2025
Development of self-phenotyping tools to empower patients and improve diagnostics
EBioMedicine·2025Open Access
Plasma proteomic markers of pain and emotional dysfunction in fibrous dysplasia/McCune-Albright syndrome
Bone·2025· 1 citedOpen Access
Parental Anxiety in Differences of Sex Development and Hypospadias: A Psychosocial Characterization
2025Open Access
Health Supervision for Children With 22q11.2 Deletion Syndrome: Clinical Report
PEDIATRICS·2025· 2 citedOpen Access
Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical Report
PEDIATRICS·2025· 20 cited
Switching from active vitamin D and phosphate supplementation to burosumab significantly corrects lower limb malalignment in pediatric X-linked hypophosphatemia
Journal of Bone and Mineral Research·2025· 1 citedOpen Access
Growth Attenuation Therapy: Ongoing Ethical and Practical Challenges 20 Years Post Ashley
The American Journal of Bioethics·2025
Covering medical care costs for participants in the eMERGE Network: Challenges for equity and implementation
Genetics in Medicine·2025· 1 cited
Insights from the largest diverse ancestry sex-specific disease map for genetically predicted height
npj Genomic Medicine·2025· 1 citedOpen Access
Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients
BioData Mining·2025· 1 citedOpen Access
P579: Multidimensional utility of genomic autopsy for infant mortality
Genetics in Medicine Open·2025Open Access
Family genetic risk communication and reverse cascade testing in the BabySeq project
Genetics in Medicine·2024· 2 citedOpen Access
Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants
PEDIATRICS·2024· 3 citedOpen Access
Preferences of parents from diverse backgrounds on genomic screening of apparently healthy newborns
Journal of Genetic Counseling·2024· 9 citedOpen Access
Diverse Participant Recruitment for Infant Sequencing in the BabySeq Project
2024Open Access
The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants
The American Journal of Human Genetics·2024· 24 citedOpen Access
Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder
The American Journal of Human Genetics·2024· 3 citedOpen Access
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Frequent Co-authors

Alan H. Beggs(18), Paul K. Kleinman(17), Robert C. Green(15), Heidi L. Rehm(14), Amy L. McGuire(13), Joel B. Krier(11), Timothy W. Yu(11), Richard B. Parad(11), Pankaj B. Agrawal(10), Ozge Ceyhan‐Birsoy(9), Casie A. Genetti(9), Stacey Pereira(9), David R. Adams(9), Matthew S. Lebo(8), Gail P. Jarvik(8), Talia S. Schwartz(8), Kurt D. Christensen(8), Isaac S. Kohane(8), Ellen Wright Clayton(7), Wendy K. Chung(7)