Kristopher T. Kahle, Ph.D.
Affiliations: | 2007 | Yale University, New Haven, CT |
Area:
Physiology Biology, GeneticsWebsite:
https://medicine.yale.edu/intranet/facultybydept/kristopher_kahle.profileGoogle:
"Kristopher Kahle"Parents
Sign in to add mentor| Richard P. Lifton | grad student | 2007 | Yale | |
| (WNK protein kinases: A novel molecular pathway that controls blood pressure and electrolyte homeostasis in humans.) | ||||
| David E. Clapham | post-doc | Harvard Medical School (Neurotree) | ||
| Stephen J. Elledge | post-doc | Harvard Medical School (Chemistry Tree) | ||
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Publications
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| DeSpenza T, Singh A, Allington G, et al. (2024) Pathogenic variants in autism gene cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics. Proceedings of the National Academy of Sciences of the United States of America. 121: e2314702121 |
| Timberlake AT, Hemal K, Gustafson JA, et al. (2024) AXIN1 mutations in nonsyndromic craniosynostosis. Journal of Neurosurgery. Pediatrics. 1-6 |
| Duy PQ, Jux B, Zhao S, et al. (2024) TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus. Brain : a Journal of Neurology |
| Singh AK, Allington G, Viviano S, et al. (2023) A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus. Brain : a Journal of Neurology |
| Zhao S, Mekbib KY, van der Ent MA, et al. (2023) Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations. Nature Communications. 14: 7452 |
| Khoshkhoo S, Wang Y, Chahine Y, et al. (2023) Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy. Jama Neurology |
| Timberlake AT, McGee S, Allington G, et al. (2023) De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis. American Journal of Human Genetics |
| Singh AK, Viviano S, Allington G, et al. (2023) A novel -mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus. Medrxiv : the Preprint Server For Health Sciences |
| Zhao S, Mekbib KY, van der Ent MA, et al. (2023) Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformations. Biorxiv : the Preprint Server For Biology |
| Kundishora AJ, Allington G, McGee S, et al. (2023) Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts. Nature Medicine |