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The New England Journal of Medicine|July 4, 2019
C-Type Natriuretic Peptide Analogue Therapy in Children with AchondroplasiaRavi Savarirayan, Melita Irving, Carlos A Bacino, et al.Research Square|August 1, 2026
Cross-species functional analysis of a de novo DCLK1 variant associated with a neurodevelopmental disorderStephen Pak, David Butler, Weimin Yuan, et al.Research Square|February 27, 2026
OmniCellTOSG: The First Cell Text-Omic Signaling Graphs Dataset for Graph Language Foundation ModelingFuhai Li, Heming Zhang, Tim Xu, et al.Human Molecular Genetics|December 30, 2025
Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmiaHieu D Hoang, Rebecca C Spillmann, Daniel J Wegner, et al.Journal of the National Comprehensive Cancer Network : JNCCN|April 8, 2020
NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020Mary B Daly, Robert Pilarski, Matthew B Yurgelun, et al.Journal of the National Comprehensive Cancer Network : JNCCN|January 6, 2021
Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in OncologyMary B Daly, Tuya Pal, Michael P Berry, et al.Medrxiv : the Preprint Server for Health Sciences|December 19, 2025
DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDERWallid Deb, Thomas Besnard, Florence Desprez, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 24, 2021
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestationsLance H Rodan, Rebecca C Spillmann, Harley T Kurata, et al.Pageof 5