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Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|March 10, 2023
Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related DisordersDominyka Batkovskyte, Fiona McKenzie, Fulya Taylan, et al.Journal of Medicinal Chemistry|March 11, 2024
Development of a Series of Pyrrolopyridone MAT2A InhibitorsStephen J Atkinson, Sharan K Bagal, Argyrides Argyrou, et al.The New England Journal of Medicine|May 26, 2026
In Vivo Base Editing of PCSK9 with VERVE-102 for HypercholesterolemiaScott B Vafai, Jörg Täubel, Thomas Ashdown, et al.Blood|July 4, 2018
Integrative genomic analysis reveals cancer-associated mutations at diagnosis of CML in patients with high-risk diseaseSusan Branford, Paul Wang, David T Yeung, et al.JAMA Oncology|March 5, 2026
Genomic Therapy Matching in Rare and Refractory CancersFrank P Lin, Subotheni Thavaneswaran, John P Grady, et al.Science Translational Medicine|March 2, 2022
Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedemaAlicia B Byrne, Pascal Brouillard, Drew L Sutton, et al.Human Genomics|November 13, 2025
Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnosesMahalia S B Frank, Melissa K Bennett, Thuong T Ha, et al.Developmental Cell|October 13, 2022
Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosisXuyu Qian, Ellen M DeGennaro, Maya Talukdar, et al.Cancer Research|February 6, 2021
ELOVL5 Is a Critical and Targetable Fatty Acid Elongase in Prostate CancerMargaret M Centenera, Julia S Scott, Jelle Machiels, et al.Communications Biology|May 13, 2024
Metabolism-driven in vitro/in vivo disconnect of an oral ERɑ VHL-PROTACThomas G Hayhow, Beth Williamson, Mandy Lawson, et al.Pageof 203