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Year Number of Results
1964 1
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1980 2
1985 1
1990 2
2013 1
2014 2
2015 3
2016 2
2017 2
2018 5
2020 1
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2022 6
2023 6
2024 6

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Page 1
Variants in PTEN Are Associated With a Diverse Spectrum of Cortical Dysplasia.
Shelkowitz E, Stence NV, Neuberger I, Park KL, Saenz MS, Pao E, Oyama N, Friedman SD, Shaw DWW, Mirzaa GM. Shelkowitz E, et al. Among authors: pao e. Pediatr Neurol. 2023 Oct;147:154-162. doi: 10.1016/j.pediatrneurol.2023.06.015. Epub 2023 Jun 22. Pediatr Neurol. 2023. PMID: 37619436
A Foundation Model for Cell Segmentation.
Israel U, Marks M, Dilip R, Li Q, Yu C, Laubscher E, Li S, Schwartz M, Pradhan E, Ates A, Abt M, Brown C, Pao E, Pearson-Goulart A, Perona P, Gkioxari G, Barnowski R, Yue Y, Valen DV. Israel U, et al. Among authors: pao e. bioRxiv [Preprint]. 2024 Mar 7:2023.11.17.567630. doi: 10.1101/2023.11.17.567630. bioRxiv. 2024. PMID: 38045277 Free PMC article. Preprint.
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Picketts D, Mirzaa G, Yan K, Relator R, Timpano S, Yalcin B, Collins S, Ziegler A, Pao E, Oyama N, Brischoux-Boucher E, Piard J, Monaghan K, Sacoto MG, Dobyns W, Park K, Fernández-Mayoralas D, Fernández-Jaén A, Jayakar P, Brusco A, Antona V, Giorgio E, Kvarnung M, Isidor B, Conrad S, Cogné B, Deb W, Stuurman KE, Sterbova K, Smal N, Weckhuysen S, Oegema R, Innes M, Latsko M, Ben-Omran T, Yeh R, Kruer M, Bakhtiari S, Papavasiliou A, Moutton S, Nambot S, Chanprasert S, Paolucci S, Miller K, Burton B, Kim K, O'Heir E, Bruwer Z, Donald K, Kleefstra T, Goldstein A, Angle B, Bontempo K, Miny P, Joset P, Demurger F, Hobson E, Pang L, Carpenter L, Li D, Bonneau D, Sadikovic B. Picketts D, et al. Among authors: pao e. Res Sq [Preprint]. 2023 Sep 29:rs.3.rs-3317938. doi: 10.21203/rs.3.rs-3317938/v1. Res Sq. 2023. PMID: 37841849 Free PMC article. Preprint.
Kidney Biopsy Features Most Predictive of Clinical Outcomes in the Spectrum of Minimal Change Disease and Focal Segmental Glomerulosclerosis.
Zee J, Liu Q, Smith AR, Hodgin JB, Rosenberg A, Gillespie BW, Holzman LB, Barisoni L, Mariani LH; Nephrotic Syndrome Study Network (NEPTUNE); NEPTUNE Members. Zee J, et al. J Am Soc Nephrol. 2022 Jul;33(7):1411-1426. doi: 10.1681/ASN.2021101396. Epub 2022 May 17. J Am Soc Nephrol. 2022. PMID: 35581011 Free PMC article.
ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection.
Thomas AX, Link N, Robak LA, Demmler-Harrison G, Pao EC, Squire AE, Michels S, Cohen JS, Comi A, Prontera P, Verrotti di Pianella A, Di Cara G, Garavelli L, Caraffi SG, Fusco C, Zuntini R, Parks KC, Sherr EH, Hashem MO, Maddirevula S, Alkuraya FS, Contractar IAF, Neil JE, Walsh CA, Bellen HJ, Chao HT, Clark RD, Mirzaa GM. Thomas AX, et al. Among authors: pao ec. Ann Clin Transl Neurol. 2022 Aug;9(8):1276-1288. doi: 10.1002/acn3.51629. Epub 2022 Jul 24. Ann Clin Transl Neurol. 2022. PMID: 35871307 Free PMC article.
Pediatric contributions and lessons learned from the NEPTUNE cohort study.
Modi ZJ, Zhai Y, Yee J, Desmond H, Hao W, Sampson MG, Sethna CB, Wang CS, Gipson DS, Trachtman H, Kretzler M; NEPTUNE investigators. Modi ZJ, et al. Pediatr Nephrol. 2024 Jan 18. doi: 10.1007/s00467-023-06256-7. Online ahead of print. Pediatr Nephrol. 2024. PMID: 38233720 Review.
Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.
Pirozzi F, Berkseth M, Shear R, Gonzalez L, Timms AE, Sulc J, Pao E, Oyama N, Forzano F, Conti V, Guerrini R, Doherty ES, Saitta SC, Lockwood CM, Pritchard CC, Dobyns WB, Novotny E, Wright JNN, Saneto RP, Friedman S, Hauptman J, Ojemann J, Kapur RP, Mirzaa GM. Pirozzi F, et al. Among authors: pao e. Brain. 2022 Apr 29;145(3):925-938. doi: 10.1093/brain/awab376. Brain. 2022. PMID: 35355055 Free PMC article.
40 results