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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1968 1
1969 3
1970 1
1976 2
1980 2
1984 1
1985 1
1986 2
1987 3
1988 2
1989 1
1990 1
1991 4
1992 6
1993 2
1994 8
1995 2
1996 5
1997 2
1998 2
1999 3
2000 6
2001 2
2002 2
2003 3
2004 4
2005 8
2006 4
2007 4
2008 6
2009 9
2010 10
2011 4
2012 3
2013 6
2014 3
2015 8
2016 10
2017 4
2018 7
2019 4
2020 5
2021 11
2022 6
2023 5
2024 1

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177 results

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Page 1
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
Cousin MA, Creighton BA, Breau KA, Spillmann RC, Torti E, Dontu S, Tripathi S, Ajit D, Edwards RJ, Afriyie S, Bay JC, Harper KM, Beltran AA, Munoz LJ, Falcon Rodriguez L, Stankewich MC, Person RE, Si Y, Normand EA, Blevins A, May AS, Bier L, Aggarwal V, Mancini GMS, van Slegtenhorst MA, Cremer K, Becker J, Engels H, Aretz S, MacKenzie JJ, Brilstra E, van Gassen KLI, van Jaarsveld RH, Oegema R, Parsons GM, Mark P, Helbig I, McKeown SE, Stratton R, Cogne B, Isidor B, Cacheiro P, Smedley D, Firth HV, Bierhals T, Kloth K, Weiss D, Fairley C, Shieh JT, Kritzer A, Jayakar P, Kurtz-Nelson E, Bernier RA, Wang T, Eichler EE, van de Laar IMBH, McConkie-Rosell A, McDonald MT, Kemppainen J, Lanpher BC, Schultz-Rogers LE, Gunderson LB, Pichurin PN, Yoon G, Zech M, Jech R, Winkelmann J; Undiagnosed Diseases Network; Genomics England Research Consortium; Beltran AS, Zimmermann MT, Temple B, Moy SS, Klee EW, Tan QK, Lorenzo DN. Cousin MA, et al. Among authors: jayakar p. Nat Genet. 2021 Jul;53(7):1006-1021. doi: 10.1038/s41588-021-00886-z. Epub 2021 Jul 1. Nat Genet. 2021. PMID: 34211179 Free PMC article.
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.
Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, van der Werf IM, Mancini GM, Tzschach A, Bernier R, Gozes I, Eichler EE, Romano C, Lindstrand A, Nordgren A; ADNP Consortium; Kvarnung M, Kleefstra T, de Vries BBA, Küry S, Rosenfeld JA, Meuwissen ME, Vandeweyer G, Kooy RF. Van Dijck A, et al. Biol Psychiatry. 2019 Feb 15;85(4):287-297. doi: 10.1016/j.biopsych.2018.02.1173. Epub 2018 Mar 15. Biol Psychiatry. 2019. PMID: 29724491 Free PMC article.
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: jayakar p. 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.
Diagnostic methods and treatment options for focal cortical dysplasia.
Guerrini R, Duchowny M, Jayakar P, Krsek P, Kahane P, Tassi L, Melani F, Polster T, Andre VM, Cepeda C, Krueger DA, Cross JH, Spreafico R, Cosottini M, Gotman J, Chassoux F, Ryvlin P, Bartolomei F, Bernasconi A, Stefan H, Miller I, Devaux B, Najm I, Giordano F, Vonck K, Barba C, Blumcke I. Guerrini R, et al. Among authors: jayakar p. Epilepsia. 2015 Nov;56(11):1669-86. doi: 10.1111/epi.13200. Epub 2015 Oct 5. Epilepsia. 2015. PMID: 26434565 Free article. Review.
Graph neural networks in EEG spike detection.
Mohammed AH, Cabrerizo M, Pinzon A, Yaylali I, Jayakar P, Adjouadi M. Mohammed AH, et al. Among authors: jayakar p. Artif Intell Med. 2023 Nov;145:102663. doi: 10.1016/j.artmed.2023.102663. Epub 2023 Sep 19. Artif Intell Med. 2023. PMID: 37925203
Localization of seizure foci: pitfalls and caveats.
Jayakar P, Duchowny M, Resnick TJ, Alvarez LA. Jayakar P, et al. J Clin Neurophysiol. 1991 Oct;8(4):414-31. doi: 10.1097/00004691-199110000-00006. J Clin Neurophysiol. 1991. PMID: 1761707 Review.
Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.
Lasio MLD, Leshinski AC, Ducich NH, Flore LA, Lehman A, Shur N, Jayakar PB, Hainline BE, Basinger AA, Wilson WG, Diaz GA, Erbe RW, Koeberl DD, Vockley J, Bedoyan JK. Lasio MLD, et al. Among authors: jayakar pb. Mol Genet Metab. 2023 Jun;139(2):107605. doi: 10.1016/j.ymgme.2023.107605. Epub 2023 May 9. Mol Genet Metab. 2023. PMID: 37207470
Occult spinal dysraphism: evidence-based diagnosis and treatment.
Pacheco-Jacome E, Ballesteros MC, Jayakar P, Morrison G, Ragheb J, Medina LS. Pacheco-Jacome E, et al. Among authors: jayakar p. Neuroimaging Clin N Am. 2003 May;13(2):327-34, xii. doi: 10.1016/s1052-5149(03)00028-5. Neuroimaging Clin N Am. 2003. PMID: 13677810 Review.
177 results