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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| 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 |
| Robert SM, Reeves BC, Kiziltug E, et al. (2023) The choroid plexus links innate immunity to CSF dysregulation in hydrocephalus. Cell. 186: 764-785.e21 |
| Timberlake AT, Kiziltug E, Jin SC, et al. (2022) De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis. Human Genetics |
| Duy PQ, Timberlake AT, Lifton RP, et al. (2022) Molecular genetics of human developmental neurocranial anomalies: towards "precision surgery". Cerebral Cortex (New York, N.Y. : 1991) |