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Journal of Medical Genetics|June 29, 2021
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disabilityNatalie B Tan, Alistair T Pagnamenta, Matteo P Ferla, et al.Blood Advances|March 14, 2025
Evidence-based risk stratification of myeloid neoplasms harboring TP53 mutationsMithun Vinod Shah, Kevin Hung, Anmol Baranwal, et al.Medrxiv : the Preprint Server for Health Sciences|February 26, 2024
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasetsBen Weisburd, Rakshya Sharma, Villem Pata, et al.Medrxiv : the Preprint Server for Health Sciences|July 15, 2025
Scalable automated reanalysis of genomic data in research and clinical rare disease cohortsMatthew J Welland, K D Ahlquist, Paul De Fazio, et al.Nature Medicine|June 24, 2026
Automated reanalysis of genomic data for rare disease diagnostics at scaleMatthew J Welland, K D Ahlquist, Paul De Fazio, et al.Blood Cancer Journal|May 7, 2025
Validation of the 5th edition of the World Health Organization and International Consensus Classification guidelines for TP53-mutated myeloid neoplasm in an independent international cohortMithun Vinod Shah, Kevin Hung, Anmol Baranwal, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 13, 2024
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data setsBen Weisburd, Rakshya Sharma, Villem Pata, et al.Cancer Research|September 19, 2023
The Next-Generation Oral Selective Estrogen Receptor Degrader Camizestrant (AZD9833) Suppresses ER+ Breast Cancer Growth and Overcomes Endocrine and CDK4/6 Inhibitor ResistanceMandy Lawson, Natalie Cureton, Susana Ros, et al.Developmental Cognitive Neuroscience|September 21, 2024
The development and structure of the HEALthy Brain and Child Development (HBCD) Study EEG protocolNathan A Fox, Koraly Pérez-Edgar, Santiago Morales, et al.Journal of Medicinal Chemistry|July 31, 2024
Discovery and In Vivo Efficacy of AZ-PRMT5i-1, a Novel PRMT5 Inhibitor with High MTA CooperativityJames M Smith, Bernard Barlaam, David Beattie, et al.Pageof 203