KristopherTKahleMDPhD

PubMed

• The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact.
  Andrew T Hale, Hunter Boudreau, Rishi Devulapalli, Phan Q Duy, Travis J Atchley, Michael C Dewan, Mubeen Goolam, Graham Fieggen, Heather L Spader, Anastasia A Smith, J...> ;Fluids and Barriers of the CNS. 2024 Mar 4
• 1 citations
  Utility of cortical tissue analysis in normal pressure hydrocephalus.
  Ana B W Greenberg, Kedous Y Mekbib, Neel H Mehta, Emre Kiziltug, Phan Q Duy, Hannah R Smith, Antti Junkkari, Ville Leinonen, Bradley T Hyman, Diane Chan, William T Cur...> ;Cerebral Cortex. 2024 Jan 31
• Epilepsy Surgery for Cognitive Improvement in Epileptic Encephalopathy.
  John R McLaren, Kristopher T Kahle, R Mark Richardson, Catherine J Chu> ;Neurosurgery Clinics of North America. 2024 Jan 1
• Neurosurgery elucidates somatic mutations.
  Eduardo A Maury, Christopher A Walsh, Kristopher T Kahle> ;Science. 2023 Dec 22
• 1 citations
  The "microcephalic hydrocephalus" paradox as a paradigm of altered neural stem cell biology.
  Phan Q Duy, Neel H Mehta, Kristopher T Kahle> ;Cerebral Cortex. 2024 Jan 14
• 1 citations
  Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations.
  Shujuan Zhao, Kedous Y Mekbib, Martijn A van der Ent, Garrett Allington, Andrew Prendergast, Jocelyn E Chau, Hannah Smith, John Shohfi, Jack Ocken, Daniel Duran, Charu...> ;Nature Communications. 2023 Nov 17
• 1 citations
  Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus: A Systematic Review and Meta-Analysis.
  Ana B W Greenberg, Neel H Mehta, Garrett Allington, Sheng Chih Jin, Andrés Moreno-De-Luca, Kristopher T Kahle> ;JAMA Network Open. 2023 Nov 1
• Concurrent impact of de novo mutations on cranial and cortical development in nonsyndromic craniosynostosis.
  Emre Kiziltug, Phan Q Duy, Garrett Allington, Andrew T Timberlake, Riki Kawaguchi, Aaron S Long, Mariana N Almeida, Michael L DiLuna, Seth L Alper, Michael Alperovich,...> ;Journal of Neurosurgery. Pediatrics. 2024 Jan 1
• 1 citations
  Cases of familial idiopathic normal pressure hydrocephalus implicate genetic factors in disease pathogenesis.
  Ana B W Greenberg, Neel H Mehta, Kedous Y Mekbib, Emre Kiziltug, Hannah R Smith, Bradley T Hyman, Diane Chan, William T Curry Jr, Steven E Arnold, Matthew P Frosch, Ph...> ;Cerebral Cortex. 2023 Nov 27
• 1 citations
  Human genetics and molecular genomics of Chiari malformation type 1.
  Kedous Y Mekbib, William Muñoz, Garrett Allington, Stephen McGee, Neel H Mehta, John P Shofi, Carla Fortes, Hao Thi Le, Carol Nelson-Williams, Pranav Nanda, Evan Denni...> ;Trends in Molecular Medicine. 2023 Dec 1
• Atlantoaxial instability associated with ALDH18A1 mutation.
  Alexandra T Lucas, Angela E Lin, Andrew Cohen, William Muñoz, Kristopher T Kahle, John H Shin, Karen Buch, Inderneel Sahai, Ryan W Carroll> ;American Journal of Medical Genetics. Part A. 2023 Dec 1
• De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children.
  Natalie Ahmad, Walid Fazeli, Sophia Schließke, Gaetan Lesca, Zeynep Gokce-Samar, Kedous Y Mekbib, Sheng Chih Jin, Jennifer Burton, George Hoganson, Andrea Petersen, Sa...> ;Pediatric Neurology. 2023 Nov 1
• 2 citations
  The Efficacy of Endoscopic Third Ventriculostomy for Idiopathic Normal Pressure Hydrocephalus.
  Neel H Mehta, Ana B W Greenberg, Kristopher T Kahle> ;World Neurosurgery. 2023 Nov 1
• 1 citations
  "Floppy brain" in congenital hydrocephalus.
  Phan Q Duy, Kristopher T Kahle> ;Cerebral Cortex. 2023 Jul 24
• 7 citations
  Cation flux through SUR1-TRPM4 and NCX1 in astrocyte endfeet induces water influx through AQP4 and brain swelling after ischemic stroke.
  Jesse A Stokum, Bosung Shim, Serban Negoita, Natalya Tsymbalyuk, Orest Tsymbalyuk, Svetlana Ivanova, Kaspar Keledjian, Joseph Bryan, Mordecai P Blaustein, Ruchira M Jh...> ;Science Signaling. 2023 Jun 6
• 6 citations
  Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease.
  Amélie Pinard, Wenlei Ye, Stuart M Fraser, Jill A Rosenfeld, Pavel Pichurin, Scott E Hickey, Dongchuan Guo, Alana C Cecchi, Maura L Boerio, Stéphanie Guey, Chaker Alou...> ;Brain. 2023 Sep 1
• 12 citations
  Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy.
  Sattar Khoshkhoo, Yilan Wang, Yasmine Chahine, E Zeynep Erson-Omay, Stephanie M Robert, Emre Kiziltug, Eyiyemisi C Damisah, Carol Nelson-Williams, Guangya Zhu, Wenna K...> ;JAMA Neurology. 2023 Jun 1
• 3 citations
  De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis.
  Andrew T Timberlake, Stephen McGee, Garrett Allington, Emre Kiziltug, Erin M Wolfe, Amy L Stiegler, Titus J Boggon, May Sanyoura, Michelle Morrow, Tara L Wenger, Erica...> ;American Journal of Human Genetics. 2023 May 4
• 3 citations
  Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts.
  Adam J Kundishora, Garrett Allington, Stephen McGee, Kedous Y Mekbib, Vladimir Gainullin, Andrew T Timberlake, Carol Nelson-Williams, Emre Kiziltug, Hannah Smith, Jack...> ;Nature Medicine. 2023 Mar 1
• 21 citations
  The choroid plexus links innate immunity to CSF dysregulation in hydrocephalus.
  Stephanie M Robert, Benjamin C Reeves, Emre Kiziltug, Phan Q Duy, Jason K Karimy, M Shahid Mansuri, Arnaud Marlier, Garrett Allington, Ana B W Greenberg, Tyrone DeSpen...> ;Cell. 2023 Feb 16
• 4 citations
  Increasing precision in the management of pediatric neurosurgical cerebrovascular diseases with molecular genetics.
  Kristopher T Kahle, Daniel Duran, Edward R Smith> ;Journal of Neurosurgery. Pediatrics. 2023 Mar 1
• 9 citations
  Rethinking the cilia hypothesis of hydrocephalus.
  Phan Q Duy, Ana B W Greenberg, William E Butler, Kristopher T Kahle> ;Neurobiology of Disease. 2022 Dec 1
• 8 citations
  KCC2 drives chloride microdomain formation in dendritic blebbing.
  Nicholas L Weilinger, Leigh E Wicki-Stordeur, Christopher J Groten, Jeffrey M LeDue, Kristopher T Kahle, Brian A MacVicar> ;Cell Reports. 2022 Oct 25
• 10 citations
  A neural stem cell paradigm of pediatric hydrocephalus.
  Phan Q Duy, Pasko Rakic, Seth L Alper, Stephanie M Robert, Adam J Kundishora, William E Butler, Christopher A Walsh, Nenad Sestan, Daniel H Geschwind, Sheng Chih Jin, ...> ;Cerebral Cortex. 2023 Apr 4
• 10 citations
  De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis.
  Andrew T Timberlake, Emre Kiziltug, Sheng Chih Jin, Carol Nelson-Williams, Erin Loring, , August Allocco, Arnaud Marlier, Siddharth Banka, Helen Stuart, Maria Rita Pas...> ;Human Genetics. 2023 Jan 1
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