| Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus PQ Duy, SC Weise, C Marini, XJ Li, D Liang, PJ Dahl, S Ma, A Spajic, ... Nature neuroscience 25 (4), 458-473, 2022 | 72 | 2022 |
| Visualizing flow in an intact CSF network using optical coherence tomography: implications for human congenital hydrocephalus P Date, P Ackermann, C Furey, IB Fink, S Jonas, MK Khokha, KT Kahle, ... Scientific Reports 9 (1), 6196, 2019 | 47 | 2019 |
| PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans T Barak, E Ristori, AG Ercan-Sencicek, DF Miyagishima, ... Nature medicine 27 (12), 2165-2175, 2021 | 31 | 2021 |
| CRISPR/Cas9 F0 Screening of Congenital Heart Disease Genes in Xenopus tropicalis E Deniz, EK Mis, M Lane, MK Khokha Xenopus: Methods and Protocols, 163-174, 2018 | 30 | 2018 |
| Analysis of Craniocardiac Malformations in Xenopus using Optical Coherence Tomography E Deniz, S Jonas, M Hooper, J N. Griffin, MA Choma, MK Khokha Scientific reports 7 (1), 42506, 2017 | 28* | 2017 |
| Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants M Landim-Vieira, JR Johnston, W Ji, EK Mis, J Tijerino, ... Frontiers in Physiology 10, 1612, 2020 | 26 | 2020 |
| In Xenopus ependymal cilia drive embryonic CSF circulation and brain development independently of cardiac pulsatile forces AH Dur, T Tang, S Viviano, A Sekuri, HR Willsey, HD Tagare, KT Kahle, ... Fluids and Barriers of the CNS 17, 1-22, 2020 | 21 | 2020 |
| RPSA, a candidate gene for isolated congenital asplenia, is required for pre-rRNA processing and spleen formation in Xenopus JN Griffin, SB Sondalle, A Robson, EK Mis, G Griffin, SS Kulkarni, E Deniz, ... Development 145 (20), dev166181, 2018 | 21 | 2018 |
| Paired Box 9 (PAX9), the RNA polymerase II transcription factor, regulates human ribosome biogenesis and craniofacial development KI Farley-Barnes, E Deniz, MM Overton, MK Khokha, SJ Baserga PLoS Genetics 16 (8), e1008967, 2020 | 16 | 2020 |
| DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes J Marquez, N Mann, K Arana, E Deniz, W Ji, M Konstantino, EK Mis, ... Journal of medical genetics 58 (7), 453-464, 2021 | 15 | 2021 |
| Endogenous contrast blood flow imaging in embryonic hearts using hemoglobin contrast subtraction angiography E Deniz, S Jonas, M Khokha, MA Choma Optics letters 37 (14), 2979, 2012 | 10 | 2012 |
| Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease K Mishra-Gorur, T Barak, LD Kaulen, O Henegariu, SC Jin, SM Aguilera, ... Proceedings of the National Academy of Sciences 120 (16), e2214997120, 2023 | 9 | 2023 |
| A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus AK Singh, G Allington, S Viviano, S McGee, E Kiziltug, S Ma, S Zhao, ... Brain 147 (4), 1553-1570, 2024 | 7* | 2024 |
| CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability E Deniz, M Pasha, ME Guerra, S Viviano, W Ji, M Konstantino, L Jeffries, ... Developmental biology 499, 75-88, 2023 | 7 | 2023 |
| Xenopus tadpole craniocardiac imaging using optical coherence tomography E Deniz, EK Mis, M Lane, MK Khokha Cold Spring Harbor Protocols 2022 (5), pdb. prot105676, 2022 | 7 | 2022 |
| Gaussian process post-processing for particle tracking velocimetry T Tang, E Deniz, MK Khokha, HD Tagare Biomedical Optics Express 10 (7), 3196-3216, 2019 | 7 | 2019 |
| A retrospective cohort analysis of the Yale pediatric genomics discovery program S Al‐Ali, L Jeffries, EVS Faustino, W Ji, E Mis, M Konstantino, C Zerillo, ... American Journal of Medical Genetics Part A 188 (10), 2869-2878, 2022 | 4 | 2022 |
| A novel approach to quantifying ciliary physiology: microfluidic mixing driven by a ciliated biological surface S Jonas, E Zhou, E Deniz, B Huang, K Chandrasekera, D Bhattacharya, ... Lab on a Chip 13 (21), 4160-4163, 2013 | 4 | 2013 |
| Aptasensor-encapsulating semi-permeable proteinosomes for direct target detection in non-treated biofluids J Kim, H Yoo, S Woo, SS Oh Biosensors and Bioelectronics 251, 116062, 2024 | 3 | 2024 |
| Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics T DeSpenza Jr, A Singh, G Allington, S Zhao, J Lee, E Kiziltug, ML Prina, ... Proceedings of the National Academy of Sciences 121 (27), e2314702121, 2024 | 2 | 2024 |
