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Journal of the American Academy of Child and Adolescent Psychiatry|July 25, 2021
Visual Evoked Potential Abnormalities in Phelan-McDermid SyndromePaige M Siper, Mikaela A Rowe, Sylvia B Guillory, et al.
Ebiomedicine|August 27, 2020
Therapeutic vulnerabilities in the DNA damage response for the treatment of ATRX mutant neuroblastomaSally L George, Federica Lorenzi, David King, et al.
Bioorganic & Medicinal Chemistry Letters|December 26, 2017
Structure based design of nicotinamide phosphoribosyltransferase (NAMPT) inhibitors from a phenotypic screenDaniel S Palacios, Erik Meredith, Toshio Kawanami, et al.
American Journal of Human Genetics|March 20, 2001
Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plusR H Wallace, I E Scheffer, S Barnett, et al.
Pediatric Blood & Cancer|March 17, 2026
The Efficacy and Safety of Bevacizumab/Irinotecan/Temozolomide (BIT) for Relapsed/Refractory Neuroblastoma: The UK Children's Cancer and Leukaemia Group ExperienceThomas J Jackson, Menna Shamma, Upeka Senanayake, et al.
JCI Insight|April 8, 2026
D801N in ATP1A3-encoded Na/K-ATPase alpha 3 causes cardiac arrhythmogenesis through sodium-calcium exchanger-mediated calcium overloadMinu-Tshyeto K Bidzimou, Padmapriya Muralidharan, Zhushan Zhang, et al.
The Journal of Infectious Diseases|November 4, 2005
Pharmacogenetics of long-term responses to antiretroviral regimens containing Efavirenz and/or Nelfinavir: an Adult Aids Clinical Trials Group StudyDavid W Haas, Laura M Smeaton, Robert W Shafer, et al.
Nature Communications|May 22, 2023
AMPK is a mechano-metabolic sensor linking cell adhesion and mitochondrial dynamics to Myosin-dependent cell migrationEva Crosas-Molist, Vittoria Graziani, Oscar Maiques, et al.
Epilepsia|December 21, 2024
Rare dysfunctional SCN2A variants are associated with malformation of cortical developmentJérôme Clatot, Christopher H Thompson, Susan Sotardi, et al.
Human Molecular Genetics|February 7, 2001
Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuriaM A Font, L Feliubadaló, X Estivill, et al.
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