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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2020 | 2 |
2021 | 2 |
2022 | 3 |
2023 | 1 |
2024 | 0 |
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7 results
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Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease.
Proc Natl Acad Sci U S A. 2023 Apr 18;120(16):e2214997120. doi: 10.1073/pnas.2214997120. Epub 2023 Apr 12.
Proc Natl Acad Sci U S A. 2023.
PMID: 37043537
Free PMC article.
A retrospective cohort analysis of the Yale pediatric genomics discovery program.
Al-Ali S, Jeffries L, Faustino EVS, Ji W, Mis E, Konstantino M, Zerillo C, Jiang YH, 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.
Al-Ali S, et al.
Am J Med Genet A. 2022 Oct;188(10):2869-2878. doi: 10.1002/ajmg.a.62918. Epub 2022 Jul 28.
Am J Med Genet A. 2022.
PMID: 35899841
Free PMC article.
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Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus.
Duy 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 Jr, 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.
Duy PQ, et al.
Nat Neurosci. 2022 Apr;25(4):458-473. doi: 10.1038/s41593-022-01043-3. Epub 2022 Apr 4.
Nat Neurosci. 2022.
PMID: 35379995
Free PMC article.
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PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans.
Barak 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 Jr, Khokha MK, Kahle KT, Yasuno K, Lifton RP, Mishra-Gorur K, Nicoli S, Günel M.
Barak T, et al.
Nat Med. 2021 Dec;27(12):2165-2175. doi: 10.1038/s41591-021-01572-7. Epub 2021 Dec 9.
Nat Med. 2021.
PMID: 34887573
Free PMC article.
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Xenopus Tadpole Craniocardiac Imaging Using Optical Coherence Tomography.
Deniz E, Mis EK, Lane M, Khokha MK.
Deniz E, et al.
Cold Spring Harb Protoc. 2022 Jun 7;2022(5):Pdb.prot105676. doi: 10.1101/pdb.prot105676.
Cold Spring Harb Protoc. 2022.
PMID: 34031211
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In Xenopus ependymal cilia drive embryonic CSF circulation and brain development independently of cardiac pulsatile forces.
Dur AH, Tang T, Viviano S, Sekuri A, Willsey HR, Tagare HD, Kahle KT, Deniz E.
Dur AH, et al.
Fluids Barriers CNS. 2020 Dec 11;17(1):72. doi: 10.1186/s12987-020-00234-z.
Fluids Barriers CNS. 2020.
PMID: 33308296
Free PMC article.
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DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes.
Marquez 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.
Marquez J, et al.
J Med Genet. 2021 Jul;58(7):453-464. doi: 10.1136/jmedgenet-2019-106805. Epub 2020 Jul 6.
J Med Genet. 2021.
PMID: 32631816
Free PMC article.
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