EnginDenizMD

PubMed

• 1 citations
  CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability.
  M Pasha, M E Guerra, S Viviano, W Ji, M Konstantino, L Jeffries, S A Lakhani, L Medne, C Skraban, I Krantz, M K Khokha, Deniz, E., E Deniz> ;Developmental Biology. 2023 Jul 1
• 3 citations
  Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease.
  Deniz, E., Ketu Mishra-Gorur, Tanyeri Barak, Leon D Kaulen, Octavian Henegariu, Sheng Chih Jin, Stephanie Marie Aguilera, Ezgi Yalbir, Gizem Goles, Sayoko Nishimura, D...> ;Proceedings of the National Academy of Sciences of the United States of America. 2023 Apr 18
• A novel-mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus.
  Deniz, E., Amrita K Singh, Stephen Viviano, Garrett Allington, Stephen McGee, Emre Kiziltug, Kedous Y Mekbib, John P Shohfi, Phan Q Duy, Tyrone DeSpenza, Charuta G Fur...> ;Medrxiv. 2023 Mar 20
• 36 citations
  Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus.
  Deniz, E., Phan Q Duy, Stefan C Weise, Claudia Marini, Xiao-Jun Li, Dan Liang, Peter J Dahl, Shaojie Ma, Ana Spajic, Weilai Dong, Jane Juusola, Emre Kiziltug, Adam J K...> ;Nature Neuroscience. 2022 Apr 1
• 13 citations
  PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans.
  Deniz, E., Tanyeri Barak, Emma Ristori, A Gulhan Ercan-Sencicek, Danielle F Miyagishima, Carol Nelson-Williams, Weilai Dong, Sheng Chih Jin, Andrew Prendergast, Willia...> ;Nature Medicine. 2021 Dec 1
• 7 citations
  DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes
  Deniz, E., Jonathan Marquez, Nina Mann, Kathya Arana, Engin Deniz, Weizhen Ji, Monica Konstantino, Emily K Mis, Charu Deshpande, Lauren Jeffries, Julie A. McGlynn, Han...> ;Journal of Medical Genetics. 2021 Jul 27
• 3 citations
  Xenopus Tadpole Craniocardiac Imaging Using Optical Coherence Tomography.
  Emily K Mis, Maura Lane, Mustafa K. Khokha, Deniz, E., Engin Deniz> ;Cold Spring Harbor Protocols. 2021 May 24
• 11 citations
  In Xenopus ependymal cilia drive embryonic CSF circulation and brain development independently of cardiac pulsatile forces.
  A H Dur, T Tang, S Viviano, A Sekuri, Helen Rankin Willsey, Hemant D. Tagare, Kristopher T. Kahle, Deniz, E., Engin Deniz> ;Fluids and Barriers of the CNS. 2020 Dec 11
• 6 citations
  Paired Box 9 (PAX9), the RNA polymerase II transcription factor, regulates human ribosome biogenesis and craniofacial development.
  Katherine I. Farley-Barnes, Maya M Overton, Mustafa K. Khokha, Susan J. Baserga> ;Plos Genetics. 2020 Aug 19
• 1 citations
  Author Correction: Visualizing flow in an intact CSF network using optical coherence tomography: implications for human congenital hydrocephalus.
  Priya Date, Pascal Ackermann, Charuta G. Furey, Ina Berenice Fink, Stephan M. Jonas, Mustafa K. Khokha, Kristopher T. Kahle> ;Scientific Reports. 2020 Feb 12
• 15 citations
  Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants
  Maicon Landim-Vieira, Jamie R. Johnston, Weizhen Ji, Emily K Mis, Joshua Tijerino, Michele Spencer-Manzon, Lauren Jeffries, E Kevin Hall, David Panisello-Manterola, Mu...> ;Frontiers in Physiology. 2020 Jan 22
• 1 citations
  Quantitative Phenotyping of Xenopus Embryonic Heart Pathophysiology Using Hemoglobin Contrast Subtraction Angiography to Screen Human Cardiomyopathies
  Stephan M. Jonas, Mustafa K. Khokha, Michael A. Choma> ;Frontiers in Physiology. 2019 Sep 20
• 3 citations
  Gaussian process post-processing for particle tracking velocimetry.
  Tommy Tang, Mustafa K. Khokha, Hemant D. Tagare> ;Biomedical Optics Express. 2019 Jul 1
• 22 citations
  Visualizing flow in an intact CSF network using optical coherence tomography: implications for human congenital hydrocephalus.
  Priya Date, Pascal Ackermann, Charuta G. Furey, Ina Berenice Fink, Stephan M. Jonas, Mustafa K. Khokha, Kristopher T. Kahle> ;Scientific Reports. 2019 Apr 17
• 13 citations
  RPSA, a candidate gene for isolated congenital asplenia, is required for pre-rRNA processing and spleen formation in Xenopus.
  John N. Griffin, Samuel B. Sondalle, Andrew Robson, Emily K Mis, Gerald Griffin, Saurabh S. Kulkarni, Susan J. Baserga, Mustafa K. Khokha> ;Development. 2018 Oct 15
• 18 citations
  CRISPR/Cas9 F0 Screening of Congenital Heart Disease Genes in Xenopus tropicalis
  Emily K Mis, Maura Lane, Mustafa K. Khokha> ;Methods in Molecular Biology. 2018 Jan 1
• 6 citations
  Endogenous contrast blood flow imaging in embryonic hearts using hemoglobin contrast subtraction angiography.
  Stephan M. Jonas, Mustafa K. Khokha, Michael A. Choma> ;Optics Letters. 2012 Jul 15
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