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CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature.
van der Laan L, Silva A, Kleinendorst L, Rooney K, Haghshenas S, Lauffer P, Alanay Y, Bhai P, Brusco A, de Munnik S, de Vries BBA, Vega AD, Engelen M, Herkert JC, Hochstenbach R, Hopman S, Kant SG, Kira R, Kato M, Keren B, Kroes HY, Levy MA, Lock-Hock N, Maas SM, Mancini GMS, Marcelis C, Matsumoto N, Mizuguchi T, Mussa A, Mignot C, Närhi A, Nordgren A, Pfundt R, Polstra AM, Trajkova S, van Bever Y, José van den Boogaard M, van der Smagt JJ, Barakat TS, Alders M, Mannens MMAM, Sadikovic B, van Haelst MM, Henneman P. van der Laan L, et al. Among authors: silva a. HGG Adv. 2025 Jan 9;6(1):100380. doi: 10.1016/j.xhgg.2024.100380. Epub 2024 Nov 4. HGG Adv. 2025. PMID: 39501558 Free PMC article.
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.
van der Laan L, Lauffer P, Rooney K, Silva A, Haghshenas S, Relator R, Levy MA, Trajkova S, Huisman SA, Bijlsma EK, Kleefstra T, van Bon BW, Baysal Ö, Zweier C, Palomares-Bralo M, Fischer J, Szakszon K, Faivre L, Piton A, Mesman S, Hochstenbach R, Elting MW, van Hagen JM, Plomp AS, Mannens MMAM, Alders M, van Haelst MM, Ferrero GB, Brusco A, Henneman P, Sweetser DA, Sadikovic B, Vitobello A, Menke LA. van der Laan L, et al. Among authors: silva a. HGG Adv. 2024 Jul 18;5(3):100289. doi: 10.1016/j.xhgg.2024.100289. Epub 2024 Apr 2. HGG Adv. 2024. PMID: 38571311 Free PMC article.
Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature.
van der Laan L, Rooney K, Haghshenas S, Silva A, McConkey H, Relator R, Levy MA, Valenzuela I, Trujillano L, Lasa-Aranzasti A, Campos B, Castells N, Verberne EA, Maas S, Alders M, Mannens MMAM, van Haelst MM, Sadikovic B, Henneman P. van der Laan L, et al. Among authors: silva a. Int J Mol Sci. 2023 Sep 18;24(18):14240. doi: 10.3390/ijms241814240. Int J Mol Sci. 2023. PMID: 37762546 Free PMC article.
Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder.
María Del Rocío PB, Palomares Bralo M, Vanhooydonck M, Hamerlinck L, D'haene E, Leimbacher S, Jacobs EZ, De Cock L, D'haenens E, Dheedene A, Malfait Z, Vantomme L, Silva A, Rooney K, Santos-Simarro F, Lleuger-Pujol R, García-Miñaúr S, Losantos-García I, Menten B, Gestri G, Ragge N; ZFHX4 consortium; Sadikovic B, Bogaert E, Syx D, Callewaert B, Vergult S. María Del Rocío PB, et al. Among authors: silva a. medRxiv [Preprint]. 2024 Aug 8:2024.08.07.24311381. doi: 10.1101/2024.08.07.24311381. medRxiv. 2024. PMID: 39148819 Free PMC article. Preprint.
Multidisciplinary nursing care in chronic Chagas disease: a scoping review.
Silva ÂAO, Leony LM, Daltro RT, Santos EF, Freitas NEM, de Carvalho Medrado Vasconcelos L, Sampaio DD, Santos FN, Fernandes LDD, Aras R, Hasslocher-Moreno AM, Santos FLN. Silva ÂAO, et al. BMC Nurs. 2025 Jan 14;24(1):50. doi: 10.1186/s12912-024-02621-5. BMC Nurs. 2025. PMID: 39810196 Free article.
Predictive equation derived from 6,497 doubly labelled water measurements enables the detection of erroneous self-reported energy intake.
Bajunaid R, Niu C, Hambly C, Liu Z, Yamada Y, Aleman-Mateo H, Anderson LJ, Arab L, Baddou I, Bandini L, Bedu-Addo K, Blaak EE, Bouten CVC, Brage S, Buchowski MS, Butte NF, Camps SGJA, Casper R, Close GL, Cooper JA, Cooper R, Das SK, Davies PSW, Dabare P, Dugas LR, Eaton S, Ekelund U, Entringer S, Forrester T, Fudge BW, Gillingham M, Goris AH, Gurven M, El Hamdouchi A, Haisma HH, Hoffman D, Hoos MB, Hu S, Joonas N, Joosen AM, Katzmarzyk P, Kimura M, Kraus WE, Kriengsinyos W, Kuriyan R, Kushner RF, Lambert EV, Lanerolle P, Larsson CL, Leonard WR, Lessan N, Löf M, Martin CK, Matsiko E, Medin AC, Morehen JC, Morton JP, Must A, Neuhouser ML, Nicklas TA, Nyström CD, Ojiambo RM, Pietiläinen KH, Pitsiladis YP, Plange-Rhule J, Plasqui G, Prentice RL, Racette SB, Raichlen DA, Ravussin E, Redman LM, Reilly JJ, Reynolds R, Roberts SB, Samaranayakem D, Sardinha LB, Silva AM, Sjödin AM, Stamatiou M, Stice E, Urlacher SS, Van Etten LM, van Mil EGAH, Wilson G, Yanovski JA, Yoshida T, Zhang X, Murphy-Alford AJ, Sinha S, Loechl CU, Luke AH, Pontzer H, Rood J, Sagayama H, Schoeller DA, Westerterp KR, Wong WW, Speakman JR. Bajunaid R, et al. Among authors: silva am. Nat Food. 2025 Jan 13. doi: 10.1038/s43016-024-01089-5. Online ahead of print. Nat Food. 2025. PMID: 39806218
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