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American Journal of Human Genetics|August 28, 2020
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic EncephalopathiesPeter D Galer, Shiva Ganesan, David Lewis-Smith, et al.
Human Mutation|April 28, 2016
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation SyndromeAlexej Knaus, Tomonari Awaya, Ingo Helbig, et al.
Neurology|June 11, 2020
Analyzing 2,589 child neurology telehealth encounters necessitated by the COVID-19 pandemicSalvatore C Rametta, Sara E Fridinger, Alexander K Gonzalez, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 3, 2010
Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesityRuxandra Bachmann-Gagescu, Heather C Mefford, Charles Cowan, et al.
Medrxiv : the Preprint Server for Health Sciences|May 22, 2023
Delineating clinical and developmental outcomes in <i>STXBP1</i>-related disordersJulie Xian, Kim Marie Thalwitzer, Jillian McKee, et al.
Biorxiv : the Preprint Server for Biology|June 9, 2023
Chronic activation of tubulin tyrosination in HCM mice and human iPSC-engineered heart tissues improves heart functionNiels Pietsch, Christina Yingxian Chen, Svenja Kupsch, et al.
Medrxiv : the Preprint Server for Health Sciences|April 20, 2026
DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneityAlicia G Harrison, Shiva Ganesan, Hongbo M Xie, et al.
Ebiomedicine|May 31, 2022
Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discoveryKaren L Oliver, Colin A Ellis, Ingrid E Scheffer, et al.
Communications Biology|September 18, 2023
Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneuronsChad R Camp, Anna Vlachos, Chiara Klöckner, et al.
Circulation Research|September 16, 2024
Chronic Activation of Tubulin Tyrosination Improves Heart FunctionNiels Pietsch, Christina Y Chen, Svenja Kupsch, et al.
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