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Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, Novelli A, Blümlein U, Haack TB, Heinritz W, Matzker E, Alhaddad B, Abou Jamra R, Bartolomaeus T, AlHamdan S, Carapito R, Isidor B, Bahram S, Ritter A, Izumi K, Shakked BP, Barel O, Ben Zeev B, Begtrup A, Carere DA, Mullegama SV, Palculict TB, Calame DG, Schwan K, Aycinena ARP, Traberg R; Genomics England Research Consortium; Douzgou S, Pirt H, Ismayilova N, Banka S, Chao HT, Agrawal PB. Paul MS, et al. Among authors: grant pe. Am J Hum Genet. 2023 Jan 5;110(1):120-145. doi: 10.1016/j.ajhg.2022.11.011. Epub 2022 Dec 16. Am J Hum Genet. 2023. PMID: 36528028 Free PMC article.
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, Novelli A, Blümlein Tobias B Haack U, Heinritz W, Matzker E, Alhaddad B, Jamra RA, Bartolomaeus T, AlHamdan S, Carapito R, Isidor B, Bahram S, Ritter A, Izumi K, Shakked BP, Barel O, Ben Zeev B, Begtrup A, Carere DA, Mullegama SV, Palculict TB, Calame DG, Schwan K, Aycinena ARP, Traberg R; Genomics England Research Consortium; Douzgou S, Pirt H, Ismayilova N, Banka S, Chao HT, Agrawal PB. Paul MS, et al. Among authors: grant pe. Am J Hum Genet. 2023 Mar 2;110(3):548. doi: 10.1016/j.ajhg.2023.02.010. Am J Hum Genet. 2023. PMID: 36868207 Free PMC article. No abstract available.
A catch up growth chart.
Landman J, Jackson A, Wheeler E, Grant P, Mcleod J. Landman J, et al. J Trop Pediatr. 1981 Feb;27(1):47-51. doi: 10.1093/tropej/27.1.47. J Trop Pediatr. 1981. PMID: 7218415 No abstract available.
Atypical brain aging and its association with working memory performance in major depressive disorder.
Ho NCW, Bethlehem RA, Seidlitz J, Nogovitsyn N, Metzak P, Ballester PL, Hassel S, Rotzinger S, Poppenk J, Lam RW, Taylor VH, Milev R; Lifespan Brain Chart Consortium; Bullmore ET, Alexander-Bloch AF, Frey BN, Harkness KL, Addington J, Kennedy SH, Dunlop K. Ho NCW, et al. Biol Psychiatry Cogn Neurosci Neuroimaging. 2024 Apr 26:S2451-9022(24)00110-1. doi: 10.1016/j.bpsc.2024.04.008. Online ahead of print. Biol Psychiatry Cogn Neurosci Neuroimaging. 2024. PMID: 38679324
Divergent growth of the transient brain compartments in fetuses with nonsyndromic isolated clefts involving the primary and secondary palate.
Masse O, Brumfield O, Ahmad E, Velasco-Annis C, Zhang J, Rollins CK, Connolly S, Barnewolt C, Shamshirsaz AA, Qaderi S, Javinani A, Warfield SK, Yang E, Gholipour A, Feldman HA, Grant PE, Mulliken JB, Pierotich L, Estroff J. Masse O, et al. Among authors: grant pe. Cereb Cortex. 2024 Jan 31;34(2):bhae024. doi: 10.1093/cercor/bhae024. Cereb Cortex. 2024. PMID: 38365268
Association of genetic and sulcal traits with executive function in congenital heart disease.
Maleyeff L, Newburger JW, Wypij D, Thomas NH, Anagnoustou E, Brueckner M, Chung WK, Cleveland J, Cunningham S, Gelb BD, Goldmuntz E, Hagler DJ Jr, Huang H, King E, McQuillen P, Miller TA, Norris-Brilliant A, Porter GA Jr, Roberts AE, Grant PE, Im K, Morton SU. Maleyeff L, et al. Among authors: grant pe. Ann Clin Transl Neurol. 2024 Feb;11(2):278-290. doi: 10.1002/acn3.51950. Epub 2023 Nov 27. Ann Clin Transl Neurol. 2024. PMID: 38009418 Free PMC article.
321 results