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Nature Genetics|June 21, 2016
Parent-of-origin-specific signatures of de novo mutationsJakob M Goldmann, Wendy S W Wong, Michele Pinelli, et al.Journal of Proteome Research|September 21, 2016
AltitudeOmics: Red Blood Cell Metabolic Adaptation to High Altitude HypoxiaAngelo D'Alessandro, Travis Nemkov, Kaiqi Sun, et al.Nature Genetics|October 7, 2018
Author Correction: Parent-of-origin-specific signatures of de novo mutationsJakob M Goldmann, Wendy S W Wong, Michele Pinelli, et al.BMC Bioinformatics|September 29, 2022
RTX-KG2: a system for building a semantically standardized knowledge graph for translational biomedicineE C Wood, Amy K Glen, Lindsey G Kvarfordt, et al.Annals of Oncology : Official Journal of the European Society for Medical Oncology|February 8, 2017
Pembrolizumab as first-line therapy for patients with PD-L1-positive advanced non-small cell lung cancer: a phase 1 trialR Hui, E B Garon, J W Goldman, et al.Human Genome Variation|April 16, 2016
Genomic architecture of inflammatory bowel disease in five families with multiple affected individualsAnna B Stittrich, Justin Ashworth, Mude Shi, et al.Biorxiv : the Preprint Server for Biology|November 28, 2024
Generating Biomedical Knowledge Graphs from Knowledge Bases, Registries, and Multiomic DataGuangrong Qin, Kamileh Narsinh, Qi Wei, et al.Plos Genetics|May 12, 2018
Population-specific genetic modification of Huntington's disease in VenezuelaMichael J Chao, Kyung-Hee Kim, Jun Wan Shin, et al.American Journal of Human Genetics|August 19, 2014
Mutations in NOTCH1 cause Adams-Oliver syndromeAnna-Barbara Stittrich, Anna Lehman, Dale L Bodian, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 14, 2026
Mutations in VCP cause Adams-Oliver syndrome with or without pulmonary hypertensionAnna Lehman, Sana Ahmed, Arezoo Mohajeri, et al.Pageof 30