Engin Deniz, MD
Associate Professor of Pediatrics (Critical Care)
Research & Publications
Biography
News
Coauthors
Selected Publications
- CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stabilityDeniz E, Pasha M, Guerra M, Viviano S, Ji W, Konstantino M, Jeffries L, Lakhani S, Medne L, Skraban C, Krantz I, Khokha M. CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability. Developmental Biology 2023, 499: 75-88. PMID: 37172641, PMCID: PMC10373286, DOI: 10.1016/j.ydbio.2023.04.006.
- Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart diseaseMishra-Gorur K, Barak T, Kaulen L, Henegariu O, Jin S, Aguilera S, Yalbir E, Goles G, Nishimura S, Miyagishima D, Djenoune L, Altinok S, Rai D, Viviano S, Prendergast A, Zerillo C, Ozcan K, Baran B, Sencar L, Goc N, Yarman Y, Ercan-Sencicek A, Bilguvar K, Lifton R, Moliterno J, Louvi A, Yuan S, Deniz E, Brueckner M, Gunel M. Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease. Proceedings Of The National Academy Of Sciences Of The United States Of America 2023, 120: e2214997120. PMID: 37043537, PMCID: PMC10120005, DOI: 10.1073/pnas.2214997120.
- A retrospective cohort analysis of the Yale pediatric genomics discovery programAl‐Ali S, Jeffries L, Faustino EVS, Ji W, Mis E, Konstantino M, Zerillo C, Jiang Y, Spencer‐Manzon M, Bale A, Zhang H, McGlynn J, McGrath JM, Tremblay T, Brodsky NN, Lucas CL, Pierce R, Deniz E, Khokha MK, Lakhani SA. A retrospective cohort analysis of the Yale pediatric genomics discovery program. American Journal Of Medical Genetics Part A 2022, 188: 2869-2878. PMID: 35899841, PMCID: PMC9474639, DOI: 10.1002/ajmg.a.62918.
- Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalusDuy PQ, Weise SC, Marini C, Li XJ, Liang D, Dahl PJ, Ma S, Spajic A, Dong W, Juusola J, Kiziltug E, Kundishora AJ, Koundal S, Pedram MZ, Torres-Fernández LA, Händler K, De Domenico E, Becker M, Ulas T, Juranek SA, Cuevas E, Hao LT, Jux B, Sousa AMM, Liu F, Kim SK, Li M, Yang Y, Takeo Y, Duque A, Nelson-Williams C, Ha Y, Selvaganesan K, Robert SM, Singh AK, Allington G, Furey CG, Timberlake AT, Reeves BC, Smith H, Dunbar A, DeSpenza T, Goto J, Marlier A, Moreno-De-Luca A, Yu X, Butler WE, Carter BS, Lake EMR, Constable RT, Rakic P, Lin H, Deniz E, Benveniste H, Malvankar NS, Estrada-Veras JI, Walsh CA, Alper SL, Schultze JL, Paeschke K, Doetzlhofer A, Wulczyn FG, Jin SC, Lifton RP, Sestan N, Kolanus W, Kahle KT. Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus. Nature Neuroscience 2022, 25: 458-473. PMID: 35379995, PMCID: PMC9664907, DOI: 10.1038/s41593-022-01043-3.
- PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humansBarak T, Ristori E, Ercan-Sencicek AG, Miyagishima DF, Nelson-Williams C, Dong W, Jin SC, Prendergast A, Armero W, Henegariu O, Erson-Omay EZ, Harmancı AS, Guy M, Gültekin B, Kilic D, Rai DK, Goc N, Aguilera SM, Gülez B, Altinok S, Ozcan K, Yarman Y, Coskun S, Sempou E, Deniz E, Hintzen J, Cox A, Fomchenko E, Jung SW, Ozturk AK, Louvi A, Bilgüvar K, Connolly ES, Khokha MK, Kahle KT, Yasuno K, Lifton RP, Mishra-Gorur K, Nicoli S, Günel M. PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans. Nature Medicine 2021, 27: 2165-2175. PMID: 34887573, PMCID: PMC8768030, DOI: 10.1038/s41591-021-01572-7.
- Xenopus Tadpole Craniocardiac Imaging Using Optical Coherence Tomography.Deniz E, Mis EK, Lane M, Khokha MK. Xenopus Tadpole Craniocardiac Imaging Using Optical Coherence Tomography. Cold Spring Harbor Protocols 2021, 2022: pdb.prot105676. PMID: 34031211, DOI: 10.1101/pdb.prot105676.
- In Xenopus ependymal cilia drive embryonic CSF circulation and brain development independently of cardiac pulsatile forcesDur AH, Tang T, Viviano S, Sekuri A, Willsey HR, Tagare HD, Kahle KT, Deniz E. In Xenopus ependymal cilia drive embryonic CSF circulation and brain development independently of cardiac pulsatile forces. Fluids And Barriers Of The CNS 2020, 17: 72. PMID: 33308296, PMCID: PMC7731788, DOI: 10.1186/s12987-020-00234-z.
- Mutations in SMARCC1 Define a Novel Human Syndrome of Congenital HydrocephalusAllocco A, Kundishora A, Viviano S, Deniz E, Kahle K. Mutations in SMARCC1 Define a Novel Human Syndrome of Congenital Hydrocephalus. Neurosurgery 2020, 67 DOI: 10.1093/neuros/nyaa447_578.
- Paired Box 9 (PAX9), the RNA polymerase II transcription factor, regulates human ribosome biogenesis and craniofacial developmentFarley-Barnes KI, Deniz E, Overton MM, Khokha MK, Baserga SJ. Paired Box 9 (PAX9), the RNA polymerase II transcription factor, regulates human ribosome biogenesis and craniofacial development. PLOS Genetics 2020, 16: e1008967. PMID: 32813698, PMCID: PMC7437866, DOI: 10.1371/journal.pgen.1008967.
- DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypesMarquez J, Mann N, Arana K, Deniz E, Ji W, Konstantino M, Mis EK, Deshpande C, Jeffries L, McGlynn J, Hugo H, Widmeier E, Konrad M, Tasic V, Morotti R, Baptista J, Ellard S, Lakhani SA, Hildebrandt F, Khokha MK. DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes. Journal Of Medical Genetics 2020, 58: 453-464. PMID: 32631816, PMCID: PMC7785698, DOI: 10.1136/jmedgenet-2019-106805.
- Author Correction: Visualizing flow in an intact CSF network using optical coherence tomography: implications for human congenital hydrocephalusDate P, Ackermann P, Furey C, Fink IB, Jonas S, Khokha MK, Kahle KT, Deniz E. Author Correction: Visualizing flow in an intact CSF network using optical coherence tomography: implications for human congenital hydrocephalus. Scientific Reports 2020, 10: 2791. PMID: 32047215, PMCID: PMC7012820, DOI: 10.1038/s41598-020-59301-y.
- Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 VariantsLandim-Vieira M, Johnston JR, Ji W, Mis EK, Tijerino J, Spencer-Manzon M, Jeffries L, Hall EK, Panisello-Manterola D, Khokha MK, Deniz E, Chase PB, Lakhani SA, Pinto JR. Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants. Frontiers In Physiology 2020, 10: 1612. PMID: 32038292, PMCID: PMC6990120, DOI: 10.3389/fphys.2019.01612.
- Quantitative Phenotyping of Xenopus Embryonic Heart Pathophysiology Using Hemoglobin Contrast Subtraction Angiography to Screen Human CardiomyopathiesDeniz E, Jonas S, Khokha MK, Choma MA. Quantitative Phenotyping of Xenopus Embryonic Heart Pathophysiology Using Hemoglobin Contrast Subtraction Angiography to Screen Human Cardiomyopathies. Frontiers In Physiology 2019, 10: 1197. PMID: 31620018, PMCID: PMC6763566, DOI: 10.3389/fphys.2019.01197.
- Exome Sequencing Implicates SWI/SNF Chromatin Remodeling Genes in Human Congenital HydrocephalusAllocco A, Jin S, Dong W, Zeng X, Conine S, Furey C, Date P, Gaillard J, Nelson-Williams C, Dunbar A, DeSpenza T, Deniz E, Khokha M, Lifton R, Kahle K. Exome Sequencing Implicates SWI/SNF Chromatin Remodeling Genes in Human Congenital Hydrocephalus. Neurosurgery 2019, 66: 310-133. DOI: 10.1093/neuros/nyz310_133.
- Visualizing flow in an intact CSF network using optical coherence tomography: implications for human congenital hydrocephalusDate P, Ackermann P, Furey C, Fink IB, Jonas S, Khokha MK, Kahle KT, Deniz E. Visualizing flow in an intact CSF network using optical coherence tomography: implications for human congenital hydrocephalus. Scientific Reports 2019, 9: 6196. PMID: 30996265, PMCID: PMC6470164, DOI: 10.1038/s41598-019-42549-4.
- CRISPR/Cas9 F0 Screening of Congenital Heart Disease Genes in Xenopus tropicalisDeniz E, Mis EK, Lane M, Khokha MK. CRISPR/Cas9 F0 Screening of Congenital Heart Disease Genes in Xenopus tropicalis. 2018, 1865: 163-174. PMID: 30151766, DOI: 10.1007/978-1-4939-8784-9_12.
- Analysis of Craniocardiac Malformations in Xenopus using Optical Coherence TomographyDeniz E, Jonas S, Hooper M, N. Griffin J, Choma MA, Khokha MK. Analysis of Craniocardiac Malformations in Xenopus using Optical Coherence Tomography. Scientific Reports 2017, 7: 42506. PMID: 28195132, PMCID: PMC5307353, DOI: 10.1038/srep42506.
- OCT imaging of craniofacial anatomy in xenopus embryos (Conference Presentation)Deniz E, Jonas S, Griffin J, Hooper M, Choma M, Khokha M. OCT imaging of craniofacial anatomy in xenopus embryos (Conference Presentation). Proceedings Of SPIE--the International Society For Optical Engineering 2016, 97160f-97160f-1. DOI: 10.1117/12.2213448.
- ABSTRACT 512Deniz E, Khokha M. ABSTRACT 512. Pediatric Critical Care Medicine 2014, 15: 116-117. DOI: 10.1097/01.pcc.0000449238.18168.bd.
- ABSTRACT 534Deniz E, Khokha M. ABSTRACT 534. Pediatric Critical Care Medicine 2014, 15: 122. DOI: 10.1097/01.pcc.0000449260.84101.5e.
- Microfluidic Phenotyping of Cilia-Driven Mixing for the Assessment of Respiratory DiseasesJonas S, Deniz E, Khokha M, Deserno T, Choma M. Microfluidic Phenotyping of Cilia-Driven Mixing for the Assessment of Respiratory Diseases. 2012, 135-140. DOI: 10.1007/978-3-642-28502-8_25.
Clinical Trials
| Conditions | Study Title |
|---|---|
| Children's Health; Genetics - Pediatric | Pediatric Genomics Discovery Program (PGDP) |