Publications by authors named "Ingrid A Holm"

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Plasma proteomic markers of pain and emotional dysfunction in fibrous dysplasia/McCune-Albright syndrome.
Camryn Berry, Evan E Hsu, Courtney LeSon, Kailey E Brodeur, Edin Randall, Ingrid A Holm

Bone· December 2025

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Healthcare professionals' experiences returning monogenic, polygenic, and integrated risk results in the eMERGE study.
Sabrina A Suckiel, Laura Golfinopoulos, Courtney L Scherr, Brenna M Boyd, Wendy K Chung, Ingrid A Holm

HGG Adv· December 2025

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Development of self-phenotyping tools to empower patients and improve diagnostics.
Kent Shefchek, Sonja I Ziniel, Julie A McMurry, Catherine A Brownstein, John S Brownstein, Ingrid A Holm

EBioMedicine· November 2025

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Covering medical care costs for participants in the eMERGE Network: Challenges for equity and implementation.
Laura J Rasmussen-Torvik, Katherine E Bonini, Margaret H Harr, Mohammad Ali Abbass, Hana Bangash, Ingrid A Holm

Genet Med· August 2025

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Preferences of parents from diverse backgrounds on genomic screening of apparently healthy newborns.
Nina B Gold, Jacklyn O Omorodion, Maya C Del Rosario, Greysha Rivera-Cruz, Celeste Y Hsu, Ingrid A Holm

J Genet Couns· April 2025

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Family genetic risk communication and reverse cascade testing in the BabySeq project.
Melissa K Uveges, Hadley Stevens Smith, Stacey Pereira, Casie Genetti, Amy L McGuire, Ingrid A Holm

Genet Med· March 2025

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Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants.
Monica H Wojcik, Maya C Del Rosario, Henry A Feldman, Hadley Stevens Smith, Ingrid A Holm

Pediatrics· December 2024

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The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants.
Hadley Stevens Smith, Bethany Zettler, Casie A Genetti, Madison R Hickingbotham, Tanner F Coleman, Ingrid A Holm

Am J Hum Genet· October 2024

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Diverse Participant Recruitment for Infant Sequencing in the BabySeq Project.
Maya C Del Rosario, Sheyenne A Walmsley, Barbara W Harrison, Crystal T Stephens, Bethany Zettler, Ingrid A Holm

medRxiv· October 2024

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Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder.
Marie Morimoto, Eunjin Ryu, Benjamin J Steger, Abhijit Dixit, Yoshihiko Saito, Ingrid A Holm

Am J Hum Genet· September 2024

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Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants.
Monica H Wojcik, Maya C Del Rosario, Henry A Feldman, Hadley Stevens Smith, Ingrid A Holm

medRxiv· July 2024

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Genetic predictors of blood pressure traits are associated with preeclampsia.
Elizabeth A Jasper, Jacklyn N Hellwege, Joseph H Breeyear, Brenda Xiao, Gail P Jarvik, Ingrid A Holm

Sci Rep· July 2024

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Managing differential performance of polygenic risk scores across groups: Real-world experience of the eMERGE Network.
Anna C F Lewis, Rex L Chisholm, John J Connolly, Edward D Esplin, Joe Glessner, Ingrid A Holm

Am J Hum Genet· June 2024

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Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Daniel O Dodd, Sabrina Mechaussier, Patricia L Yeyati, Fraser McPhie, Jacob R Anderson, Ingrid A Holm

Science· April 2024

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Returning Individual Research Results from Digital Phenotyping in Psychiatry.
Francis X Shen, Matthew L Baum, Nicole Martinez-Martin, Adam S Miner, Melissa Abraham, Ingrid A Holm

Am J Bioeth· February 2024

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Participant-guided development of bilingual genomic educational infographics for Electronic Medical Records and Genomics Phase IV study.
Aimiel Casillan, Michelle E Florido, Jamie Galarza-Cornejo, Suzanne Bakken, John A Lynch, Ingrid A Holm

J Am Med Inform Assoc· January 2024

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Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing.
Jodell E Linder, Ran Tao, Wendy K Chung, Krzysztof Kiryluk, Cong Liu, Rex L Chisholm, Ingrid A Holm

Am J Hum Genet· November 2023

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NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders.
Kee Chan, Zhanzhi Hu, Lynn W Bush, Heidi Cope, Ingrid A Holm

Int J Neonatal Screen· October 2023

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Education and electronic medical records and genomics network, challenges, and lessons learned from a large-scale clinical trial using polygenic risk scores.
John J Connolly, Eta S Berner, Maureen Smith, Samuel Levy, Shannon Terek, Ingrid A Holm, Rex L Chisholm

Genet Med· September 2023

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Advancing Understanding of Inequities in Rare Disease Genomics.
Jillian G Serrano, Melanie O'Leary, Grace E VanNoy, Brian E Mangilog, Ingrid A Holm

Clin Ther· August 2023

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Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project.
Robert C Green, Nidhi Shah, Casie A Genetti, Timothy Yu, Bethany Zettler, Ingrid A Holm

Am J Hum Genet· July 2023

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Studying the impact of translational genomic research: Lessons from eMERGE.
Ellen Wright Clayton, Maureen E Smith, Katherine C Anderson, Wendy K Chung, John J Connolly, Ingrid A Holm

Am J Hum Genet· July 2023

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The fundamental need for unifying phenotypes in sudden unexpected pediatric deaths.
Monica H Wojcik, Annapurna H Poduri, Ingrid A Holm, Calum A MacRae, Richard D Goldstein

Front Med (Lausanne)· June 2023

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Perspectives of Rare Disease Experts on Newborn Genome Sequencing.
Nina B Gold, Sophia M Adelson, Nidhi Shah, Shardae Williams, Sarah L Bick, Ingrid A Holm

JAMA Netw Open· May 2023

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Advancing Understanding of Inequities in Rare Disease Genomics.
Jillian G Serrano, Melanie O'Leary, Grace VanNoy, Ingrid A Holm, Yarden S Fraiman

medRxiv· March 2023

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