Author
Children's Hospital of PhiladelphiaORCID 0000-0003-4889-6961Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
5 papers
Recent·Most cited
Anne E. Justice, Brendan T Keenan, Geetha Chittoor…·Allan I Pack
This study identifies 14 genome-wide significant loci for obstructive sleep apnea, including three independent of BMI, and highlights genetic pathways involving obesity, neurological, and craniofacial factors.
Meritxell Oliva, Mrinal K. Sarkar, Michael March…·Bridget M. Riley-Gillis
This study conducts a multi-ancestry GWAS meta-analysis of 56,146 AD cases and 602,280 controls, identifying 101 genomic loci, 15 novel to AD or eczema, and linking them to AD pathophysiology through functional analyses.
Rose Guo, Frank D. Mentch, Dong Li…·Elizabeth J. K. Bhoj
The paper evaluates Mendelian causes of pediatric neurodegenerative disorders in a cohort of 69 patients, finding 42 genetic diagnoses and 32 unique disorders.
Yoonjung Yoonie Joo, Ky’Era V. Actkins, Jennifer A. Pacheco…·Corrine Kolka Welt
This study develops a polygenic and phenotypic risk score for PCOS using EHR data, showing improved detection and identifying shared metabolic and endocrine comorbidities.
Nicole M. Warrington, Robin N. Beaumont, Momoko Horikoshi…·Cæcilie Trier
This study identifies genetic effects on birth weight and their impact on cardio-metabolic traits, distinguishing fetal and maternal contributions.