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Page 1
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
Ha T, Morgan A, Bartos MN, Beatty K, Cogné B, Braun D, Gerber CB, Gaspar H, Kopps AM, Rieubland C, Hurst ACE, Amor DJ, Nizon M, Pasquier L, Pfundt R, Reis A, Siu VM, Tessarech M, Thompson ML, Vincent M, de Vries BBA, Walsh MB, Wechsler SB, Zweier C, Schnur RE, Guillen Sacoto MJ, Margot H, Masotto B, Palafoll MIV, Nawaz U, Voineagu I, Slavotinek A. Ha T, et al. Among authors: de vries bba. Am J Med Genet A. 2024 Feb 29:e63559. doi: 10.1002/ajmg.a.63559. Online ahead of print. Am J Med Genet A. 2024. PMID: 38421105 Free article.
YY1 mutations disrupt corticogenesis through a cell-type specific rewiring of cell-autonomous and non-cell-autonomous transcriptional programs.
Pereira MF, Finazzi V, Rizzuti L, Aprile D, Aiello V, Mollica L, Riva M, Soriani C, Dossena F, Shyti R, Castaldi D, Tenderini E, Carminho-Rodrigues MT, Bally JF, de Vries BBA, Gabriele M, Vitriolo A, Testa G. Pereira MF, et al. Among authors: de vries bba. bioRxiv [Preprint]. 2024 Feb 17:2024.02.16.580337. doi: 10.1101/2024.02.16.580337. bioRxiv. 2024. PMID: 38405909 Free PMC article. Preprint.
Correction: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells.
Awamleh Z, Choufani S, Wu W, Rots D, Dingemans AJM, Nadif Kasri N, Boronat S, Ibañez-Mico S, Cuesta Herraiz L, Ferrer I, Martínez Carrascal A, Pérez-Jurado LA, Aznar Lain G, Ortigoza-Escobar JD, de Vries BBA, Koolen DA, Weksberg R. Awamleh Z, et al. Among authors: de vries bba. Eur J Hum Genet. 2024 Mar;32(3):366. doi: 10.1038/s41431-024-01561-7. Eur J Hum Genet. 2024. PMID: 38355964 Free PMC article. No abstract available.
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells.
Awamleh Z, Choufani S, Wu W, Rots D, Dingemans AJM, Nadif Kasri N, Boronat S, Ibañez-Mico S, Cuesta Herraiz L, Ferrer I, Martínez Carrascal A, Pérez-Jurado LA, Aznar Lain G, Ortigoza-Escobar JD, de Vries BBA, Koolen DA, Weksberg R. Awamleh Z, et al. Among authors: de vries bba. Eur J Hum Genet. 2024 Mar;32(3):324-332. doi: 10.1038/s41431-024-01538-6. Epub 2024 Jan 29. Eur J Hum Genet. 2024. PMID: 38282074 Free PMC article.
Ocular manifestations in Koolen-de Vries syndrome: an international study.
Shalev D, Koolen DA, de Vries BBA, Blum Meirovitch S, Mandel JL, Burger P, Rosenfeld A, Ben Simon GJ, Landau Prat D. Shalev D, et al. Among authors: de vries bba. Can J Ophthalmol. 2023 Dec 22:S0008-4182(23)00379-4. doi: 10.1016/j.jcjo.2023.11.021. Online ahead of print. Can J Ophthalmol. 2023. PMID: 38145626
The Human Phenotype Ontology in 2024: phenotypes around the world.
Gargano MA, Matentzoglu N, Coleman B, Addo-Lartey EB, Anagnostopoulos AV, Anderton J, Avillach P, Bagley AM, Bakštein E, Balhoff JP, Baynam G, Bello SM, Berk M, Bertram H, Bishop S, Blau H, Bodenstein DF, Botas P, Boztug K, Čady J, Callahan TJ, Cameron R, Carbon SJ, Castellanos F, Caufield JH, Chan LE, Chute CG, Cruz-Rojo J, Dahan-Oliel N, Davids JR, de Dieuleveult M, de Souza V, de Vries BBA, de Vries E, DePaulo JR, Derfalvi B, Dhombres F, Diaz-Byrd C, Dingemans AJM, Donadille B, Duyzend M, Elfeky R, Essaid S, Fabrizzi C, Fico G, Firth HV, Freudenberg-Hua Y, Fullerton JM, Gabriel DL, Gilmour K, Giordano J, Goes FS, Moses RG, Green I, Griese M, Groza T, Gu W, Guthrie J, Gyori B, Hamosh A, Hanauer M, Hanušová K, He YO, Hegde H, Helbig I, Holasová K, Hoyt CT, Huang S, Hurwitz E, Jacobsen JOB, Jiang X, Joseph L, Keramatian K, King B, Knoflach K, Koolen DA, Kraus ML, Kroll C, Kusters M, Ladewig MS, Lagorce D, Lai MC, Lapunzina P, Laraway B, Lewis-Smith D, Li X, Lucano C, Majd M, Marazita ML, Martinez-Glez V, McHenry TH, McInnis MG, McMurry JA, Mihulová M, Millett CE, Mitchell PB, Moslerová V, Narutomi K, Nematollahi S, Nevado J, Nierenberg AA, Čajbiková NN, Nurnberger JI Jr, Og… See abstract for full author list ➔ Gargano MA, et al. Among authors: de vries bba. Nucleic Acids Res. 2024 Jan 5;52(D1):D1333-D1346. doi: 10.1093/nar/gkad1005. Nucleic Acids Res. 2024. PMID: 37953324 Free PMC article.
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.
Harms FL, Dingemans AJM, Hempel M, Pfundt R, Bierhals T, Casar C, Müller C, Niermeijer JF, Fischer J, Jahn A, Hübner C, Majore S, Agolini E, Novelli A, van der Smagt J, Ernst R, van Binsbergen E, Mancini GMS, van Slegtenhorst M, Barakat TS, Wakeling EL, Kamath A, Downie L, Pais L, White SM, de Vries BBA, Kutsche K. Harms FL, et al. Among authors: de vries bba. Genet Med. 2023 Nov;25(11):100964. doi: 10.1016/j.gim.2023.100964. Epub 2023 Sep 19. Genet Med. 2023. PMID: 37728613 No abstract available.
SOD1 is a synthetic lethal target in PPM1D-mutant leukemia cells.
Zhang L, Hsu JI, Braekeleer ED, Chen CW, Patel TD, Martell AG, Guzman AG, Wohlan K, Waldvogel SM, Urya H, Tovy A, Callen E, Murdaugh R, Richard R, Jansen S, Vissers L, de Vries BBA, Nussenzweig A, Huang S, Coarfa C, Anastas JN, Takahashi K, Vassiliou G, Goodell MA. Zhang L, et al. Among authors: de vries bba. bioRxiv [Preprint]. 2024 Jan 17:2023.08.31.555634. doi: 10.1101/2023.08.31.555634. bioRxiv. 2024. PMID: 37693622 Free PMC article. Preprint.
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework.
Dingemans AJM, Hinne M, Truijen KMG, Goltstein L, van Reeuwijk J, de Leeuw N, Schuurs-Hoeijmakers J, Pfundt R, Diets IJ, den Hoed J, de Boer E, Coenen-van der Spek J, Jansen S, van Bon BW, Jonis N, Ockeloen CW, Vulto-van Silfhout AT, Kleefstra T, Koolen DA, Campeau PM, Palmer EE, Van Esch H, Lyon GJ, Alkuraya FS, Rauch A, Marom R, Baralle D, van der Sluijs PJ, Santen GWE, Kooy RF, van Gerven MAJ, Vissers LELM, de Vries BBA. Dingemans AJM, et al. Among authors: de vries bba. Nat Genet. 2023 Sep;55(9):1598-1607. doi: 10.1038/s41588-023-01469-w. Epub 2023 Aug 7. Nat Genet. 2023. PMID: 37550531
232 results