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Medrxiv : the Preprint Server for Health Sciences|June 10, 2024
The Polygenic Score Catalog: new functionality and tools to enable FAIR researchSamuel A Lambert, Benjamin Wingfield, Joel T Gibson, et al.
Journal of Medical Genetics|May 30, 2025
Using long-read sequencing to detect and subtype a case with Temple syndromeSarah Dada, Vahid Akbari, Duha Hejla, et al.
Chemistry (Weinheim an Der Bergstrasse, Germany)|May 20, 2020
Reactive Compression Molding Post-Inverse Vulcanization: A Method to Assemble, Recycle, and Repurpose Sulfur Polymers and CompositesNicholas A Lundquist, Alfrets D Tikoalu, Max J H Worthington, et al.
Scientific Reports|February 18, 2022
Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndromeJoel T Gibson, Mary Huang, Marina Shenelli Croos Dabrera, et al.
European Heart Journal|December 15, 2025
Combined clinical, metabolomic, and polygenic scores for cardiovascular risk predictionScott C Ritchie, Xilin Jiang, Lisa Pennells, et al.
American Journal of Medical Genetics. Part A|September 13, 2017
Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathyMy Linh Thibodeau, Colin H Peters, Katelin N Townsend, et al.
The Review of Scientific Instruments|October 27, 2016
A virtual instrument to standardise the calibration of atomic force microscope cantileversJohn E Sader, Riccardo Borgani, Christopher T Gibson, et al.
American Journal of Medical Genetics. Part A|February 18, 2017
TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complexLaura S Farach, William T Gibson, Steven P Sparagana, et al.
Cold Spring Harbor Molecular Case Studies|October 26, 2021
Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: clinical and genetic counseling implicationsCourtney B Cook, Linlea Armstrong, Cornelius F Boerkoel, et al.
Plos One|May 30, 2020
Obesity induces limited changes to systemic and local immune profiles in treatment-naive human clear cell renal cell carcinomaJustin T Gibson, Katlyn E Norris, Gal Wald, et al.
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