Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

180 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study.
Guffon N, Burton BK, Ficicioglu C, Magner M, Gil-Campos M, Lopez-Rodriguez MA, Jayakar P, Lund AM, Tal G, Garcia-Ortiz JE, Stepien KM, Ellaway C, Al-Hertani W, Giugliani R, Cathey SS, Hennermann JB, Lampe C, McNutt M, Lagler FB, Scarpa M, Sutton VR, Muschol N. Guffon N, et al. Among authors: jayakar p. Mol Genet Metab. 2024 Aug;142(4):108519. doi: 10.1016/j.ymgme.2024.108519. Epub 2024 Jun 23. Mol Genet Metab. 2024. PMID: 39024860 Free article.
Initial report from the Hunter Outcome Survey.
Wraith JE, Beck M, Giugliani R, Clarke J, Martin R, Muenzer J; HOS Investigators. Wraith JE, et al. Genet Med. 2008 Jul;10(7):508-16. doi: 10.1097/gim.0b013e31817701e6. Genet Med. 2008. PMID: 18580692
Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum.
Pingault V, Neiva-Vaz C, de Oliveira J, Martínez-Gil N, Lasa-Aranzasti A, Campos B, Lakeman IMM, Nibbeling EAR, Stoeva R, Jayakar P, Dabir T, Elloumi HZ, Strong A, Hanein S, Picard A, Ochsenbein F, Blanc P, Amiel J. Pingault V, et al. Among authors: jayakar p. Eur J Hum Genet. 2024 Sep 27. doi: 10.1038/s41431-024-01698-5. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39333427
The impact of clinical genome sequencing in a global population with suspected rare genetic disease.
Thorpe E, Williams T, Shaw C, Chekalin E, Ortega J, Robinson K, Button J, Jones MC, Campo MD, Basel D, McCarrier J, Keppen LD, Royer E, Foster-Bonds R, Duenas-Roque MM, Urraca N, Bosfield K, Brown CW, Lydigsen H, Mroczkowski HJ, Ward J, Sirchia F, Giorgio E, Vaux K, Salguero HP, Lumaka A, Mubungu G, Makay P, Ngole M, Lukusa PT, Vanderver A, Muirhead K, Sherbini O, Lah MD, Anderson K, Bazalar-Montoya J, Rodriguez RS, Cornejo-Olivas M, Milla-Neyra K, Shinawi M, Magoulas P, Henry D, Gibson K, Wiafe S, Jayakar P, Salyakina D, Masser-Frye D, Serize A, Perez JE, Taylor A, Shenbagam S, Abou Tayoun A, Malhotra A, Bennett M, Rajan V, Avecilla J, Warren A, Arseneault M, Kalista T, Crawford A, Ajay SS, Perry DL, Belmont J, Taft RJ. Thorpe E, et al. Among authors: jayakar p. Am J Hum Genet. 2024 Jul 11;111(7):1271-1281. doi: 10.1016/j.ajhg.2024.05.006. Epub 2024 Jun 5. Am J Hum Genet. 2024. PMID: 38843839 Free PMC article.
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy.
Sajan SA, Gradisch R, Vogel FD, Coffey AJ, Salyakina D, Soler D, Jayakar P, Jayakar A, Bianconi SE, Cooper AH, Liu S, William N, Benkel-Herrenbrück I, Maiwald R, Heller C, Biskup S, Leiz S, Westphal DS, Wagner M, Clarke A, Stockner T, Ernst M, Kesari A, Krenn M. Sajan SA, et al. Among authors: jayakar p. Eur J Hum Genet. 2024 Aug;32(8):912-919. doi: 10.1038/s41431-024-01600-3. Epub 2024 Apr 2. Eur J Hum Genet. 2024. PMID: 38565639 Free PMC article.
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
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.
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
Liu Z, Xin B, Smith IN, Sency V, Szekely J, Alkelai A, Shuldiner A, Efthymiou S, Rajabi F, Coury S, Brownstein CA, Rudnik-Schöneborn S, Bruel AL, Thevenon J, Zeidler S, Jayakar P, Schmidt A, Cremer K, Engels H, Peters SO, Zaki MS, Duan R, Zhu C, Xu Y, Gao C, Sepulveda-Morales T, Maroofian R, Alkhawaja IA, Khawaja M, Alhalasah H, Houlden H, Madden JA, Turchetti V, Marafi D, Agrawal PB, Schatz U, Rotenberg A, Rotenberg J, Mancini GMS, Bakhtiari S, Kruer M, Thiffault I, Hirsch S, Hempel M, Stühn LG, Haack TB, Posey JE, Lupski JR, Lee H, Sarn NB, Eng C, Gonzaga-Jauregui C, Zhang B, Wang H. Liu Z, et al. Among authors: jayakar p. Hum Mol Genet. 2023 Oct 4;32(20):2981-2995. doi: 10.1093/hmg/ddad124. Hum Mol Genet. 2023. PMID: 37531237 Free PMC article.
180 results