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Page 1
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
Morleo M, Venditti R, Theodorou E, Briere LC, Rosello M, Tirozzi A, Tammaro R, Al-Badri N, High FA, Shi J; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Putti E, Ferrante L, Cetrangolo V, Torella A, Walker MA, Tenconi R, Iascone M, Mei D, Guerrini R, van der Smagt J, Kroes HY, van Gassen KLI, Bilal M, Umair M, Pingault V, Attie-Bitach T, Amiel J, Ejaz R, Rodan L, Zollino M, Agrawal PB, Del Bene F, Nigro V, Sweetser DA, Franco B. Morleo M, et al. Among authors: kroes hy. Am J Hum Genet. 2023 Aug 3;110(8):1377-1393. doi: 10.1016/j.ajhg.2023.06.012. Epub 2023 Jul 13. Am J Hum Genet. 2023. PMID: 37451268 Free PMC article.
Development of Refractive Errors-What Can We Learn From Inherited Retinal Dystrophies?
Hendriks M, Verhoeven VJM, Buitendijk GHS, Polling JR, Meester-Smoor MA, Hofman A; RD5000 Consortium; Kamermans M, Ingeborgh van den Born L, Klaver CCW. Hendriks M, et al. Am J Ophthalmol. 2017 Oct;182:81-89. doi: 10.1016/j.ajo.2017.07.008. Epub 2017 Jul 25. Am J Ophthalmol. 2017. PMID: 28751151 Free article.
Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.
Monroe GR, Frederix GW, Savelberg SM, de Vries TI, Duran KJ, van der Smagt JJ, Terhal PA, van Hasselt PM, Kroes HY, Verhoeven-Duif NM, Nijman IJ, Carbo EC, van Gassen KL, Knoers NV, Hövels AM, van Haelst MM, Visser G, van Haaften G. Monroe GR, et al. Among authors: kroes hy. Genet Med. 2016 Sep;18(9):949-56. doi: 10.1038/gim.2015.200. Epub 2016 Feb 4. Genet Med. 2016. PMID: 26845106 Free article.
GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay.
Rumping L, Tessadori F, Pouwels PJW, Vringer E, Wijnen JP, Bhogal AA, Savelberg SMC, Duran KJ, Bakkers MJG, Ramos RJJ, Schellekens PAW, Kroes HY, Klomp DWJ, Black GCM, Taylor RL, Bakkers JPW, Prinsen HCMT, van der Knaap MS, Dansen TB, Rehmann H, Zwartkruis FJT, Houwen RHJ, van Haaften G, Verhoeven-Duif NM, Jans JJM, van Hasselt PM. Rumping L, et al. Among authors: kroes hy. Hum Mol Genet. 2019 Jan 1;28(1):96-104. doi: 10.1093/hmg/ddy330. Hum Mol Genet. 2019. PMID: 30239721
Is hearing loss a feature of Joubert syndrome, a ciliopathy?
Kroes HY, Van Zanten BG, De Ru SA, Boon M, Mancini GM, Van der Knaap MS, Poll-The BT, Lindhout D. Kroes HY, et al. Int J Pediatr Otorhinolaryngol. 2010 Sep;74(9):1034-8. doi: 10.1016/j.ijporl.2010.05.034. Epub 2010 Jun 29. Int J Pediatr Otorhinolaryngol. 2010. PMID: 20591505
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
Niturad CE, Lev D, Kalscheuer VM, Charzewska A, Schubert J, Lerman-Sagie T, Kroes HY, Oegema R, Traverso M, Specchio N, Lassota M, Chelly J, Bennett-Back O, Carmi N, Koffler-Brill T, Iacomino M, Trivisano M, Capovilla G, Striano P, Nawara M, Rzonca S, Fischer U, Bienek M, Jensen C, Hu H, Thiele H, Altmüller J, Krause R, May P, Becker F; EuroEPINOMICS Consortium; Balling R, Biskup S, Haas SA, Nürnberg P, van Gassen KLI, Lerche H, Zara F, Maljevic S, Leshinsky-Silver E. Niturad CE, et al. Among authors: kroes hy. Brain. 2017 Nov 1;140(11):2879-2894. doi: 10.1093/brain/awx236. Brain. 2017. PMID: 29053855
77 results