Ingrid A. Holm

发表

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

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

VarSight: prioritizing clinically reported variants with binary classification algorithms

Yong Huang, Alexa T. McCray, Pengfei Liu, 2019, BMC Bioinformatics.

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..

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.

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.

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.

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..

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.

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.

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..

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 .

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.

Reestablishing the Researcher-Patient Compact

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

A GWAS Study on Liver Function Test Using eMERGE Network Participants

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

Physicians' Perspectives on Receiving Unsolicited Genomic Results

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