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701 results

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The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.
Vos N, Haghshenas S, van der Laan L, Russel PKM, Rooney K, Levy MA, Relator R, Kerkhof J, McConkey H, Maas SM, Vissers LELM, de Vries BBA, Pfundt R, Elting MW, van Hagen JM, Verbeek NE, Jongmans MCJ, Lakeman P, Rumping L, Bosch DGM, Vitobello A, Thauvin-Robinet C, Faivre L, Nambot S, Garde A, Willems M, Genevieve D, Nicolas G, Busa T, Toutain A, Gérard M, Bizaoui V, Isidor B, Merla G, Accadia M, Schwartz CE, Ounap K, Hoffer MJV, Nezarati MM, van den Boogaard MH, Tedder ML, Rogers C, Brusco A, Ferrero GB, Spodenkiewicz M, Sidlow R, Mussa A, Trajkova S, McCann E, Mroczkowski HJ, Jansen S, Donker-Kaat L, Duijkers FAM, Stuurman KE, Mannens MMAM, Alders M, Henneman P, White SM, Sadikovic B, van Haelst MM. Vos N, et al. Among authors: de vries bba. Hum Genet. 2024 May 24. doi: 10.1007/s00439-024-02679-w. Online ahead of print. Hum Genet. 2024. PMID: 38787418
Autism and the Case Against Job Interviews.
de Vries B. de Vries B. Neuroethics. 2024;17(2):25. doi: 10.1007/s12152-024-09563-4. Epub 2024 May 13. Neuroethics. 2024. PMID: 38752000 Free PMC article.
Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals.
Dingemans AJM, Jansen S, van Reeuwijk J, de Leeuw N, Pfundt R, Schuurs-Hoeijmakers J, van Bon BW, Marcelis C, Ockeloen CW, Willemsen M, van der Sluijs PJ, Santen GWE, Kooy RF, Vulto-van Silfhout AT, Kleefstra T, Koolen DA, Vissers LELM, de Vries BBA. Dingemans AJM, et al. Among authors: de vries bba. Nat Med. 2024 May 14. doi: 10.1038/s41591-024-03005-7. Online ahead of print. Nat Med. 2024. PMID: 38745008
Generation of induced pluripotent stem cell lines from two unrelated patients affected by intellectual disability carrying homozygous variants in SGIP1.
Dillen L, Fatima N, Hommersom MP, Çepni E, Fatima F, van Beusekom E, Albert S, van Hagen JM, de Vries BBA, Khan AA, de Brouwer APM, van Bokhoven H. Dillen L, et al. Among authors: de vries bba. Stem Cell Res. 2024 May 9;77:103442. doi: 10.1016/j.scr.2024.103442. Online ahead of print. Stem Cell Res. 2024. PMID: 38739972 Free article.
A randomized proof-of-mechanism trial of TNF antagonism for motivational anhedonia and related corticostriatal circuitry in depressed patients with high inflammation.
Treadway M, Etuk S, Cooper J, Hossein S, Hahn E, Betters S, Liu S, Arulpragasam A, DeVries B, Irfan N, Nuutinen M, Wommack E, Woolwine B, Bekhbat M, Kragel P, Felger J, Haroon E, Miller A. Treadway M, et al. Res Sq [Preprint]. 2024 Mar 5:rs.3.rs-3957252. doi: 10.21203/rs.3.rs-3957252/v1. Res Sq. 2024. PMID: 38496406 Free PMC article. Preprint.
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.
701 results