Genetic Medicine Publications
The listings below highlight research and contributions by UW Pediatrics faculty. These listings are not intended as a citation but rather a call-out of UW Pediatrics contributions. For official authorship please click the publication link provided.
October 2024
- Early Intervention services in the era of genomic medicine: setting a research agenda (PMID: 39438712). Pediatric Research.
UW Peds contributing authors: Katherine E MacDuffie , Betty Cohn, Aaron J Goldenberg , Dan Doherty, Joon-Ho Yu Bioethics and Palliative Care Developmental Medicine Genetic Medicine
November 2023
- Single-cell, whole-embryo phenotyping of mammalian developmental disorders (PMID: 37968388). Nature.
UW Peds contributing authors: David Beier Genetic Medicine
August 2023
- GENOME REPORT: Chromosome-scale genome assembly of the African spiny mouse (Acomys cahirinus) (PMID: 37552705). G3 (Genes, Genomes, Genetics).
UW Peds contributing authors: Elizabeth Nguyen, Kathleen Millen, Mark Majesky, Branden Nelson, Danny Miller Genetic Medicine Nephrology - Subdural hemorrhage, macrocephaly, rash, and developmental delay in an infant: A pathogenic variant in NLRP3 causes CINCA/NOMID (PMID: 37548074). American Journal of Medical Genetics A.
UW Peds contributing authors: Ajay Koti, Aviya Lanis, Samuel Finlayson, Susan Canny, Elana Feldman, Danny Miller, Natalie Rosenwasser, Abbey Scott, Stephen Wong, Kenneth Feldman Genetic Medicine Rheumatology - Beyond the exome: What's next in diagnostic testing for Mendelian conditions (PMID: 37541186). American Journal of Human Genetics.
UW Peds contributing authors: Danny Miller, Michael Bamshad, Jessica Chong Genetic Medicine
June 2023
- Applications of long-read sequencing to Mendelian genetics (PMID: 37316925). Genome Medicine.
UW Peds contributing authors: Danny Miller Genetic Medicine - Characteristics, Genetic Testing, and Diagnoses of Infants with Neonatal Encephalopathy Not Due to Hypoxic Ischemic Encephalopathy: A Cohort Study (PMID: 37269901). Pediatrics.
UW Peds contributing authors: Ulrike Mietzsch, Thomas Wood, Elliott Weiss, Danny Miller, Kendell German, Niranjana Natarajan, Mihai Puia-Dumitrescu, Sarah Kolnik, Janessa Law Genetic Medicine Neonatology