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Page 1
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.
Masson A, Paccaud J, Orefice M, Colin E, Mäkitie O, Cormier-Daire V, Relator R, Ghosh S, Strub JM, Schaeffer-Reiss C, Marcelis C, Koolen DA, Pfundt R, de Boer E, Vissers LE, Gardeitchik T, Aarts LA, Rinne T, Terhal PA, Verbeek NE, Zuurbier LC, Plomp AS, Wessels MW, de Man SA, Bouman A, Bird LM, Saadeh-Haddad R, Guillen Sacoto MJ, Person R, Gooch C, Hurst AC, Thompson ML, Hiatt SM, Littlejohn RO, Roeder ER, Mori M, Hickey SE, Hunter JM, Lee K, Osman K, Halloun R, Bachmann-Gagescu R, Rauch A, Wieczorek D, Platzer K, Luppe J, Duplomb-Jego L, El It F, Duffourd Y, Tran Mau-Them F, Huber C, Gordon CT, Taylan F, Mäkitie RE, Costantini A, Valta H, Robertson S, Poke G, Francoise M, Ciolfi A, Tartaglia M, Ekhilevitch N, Zaid R, Levy MA, Kerkhof J, McConkey H, Delanne J, Chevarin M, Vautrot V, Bourgeois V, Nguyen S, Marle N, Callier P, Safraou H, Morgan A, Amor DJ, Hildebrand MS, Coman D, Aubert Mucca M, Thevenon J, Laffargue F, Bilan F, Pebrel-Richard C, Yoon G, Axford MM, Pérez-Jurado LA, Sevilla-Porras M, Black DL, Philippe C, Sadikovic B, Thauvin-Robinet C, Olivier-Faivre L, Ori M, Thomas Q, Vitobello A. Masson A, et al. Among authors: plomp as. J Clin Invest. 2025 Sep 18;135(22):e182100. doi: 10.1172/JCI182100. eCollection 2025 Nov 17. J Clin Invest. 2025. PMID: 40965981 Free PMC article.
Letter in Response to Verschuere et al.
Haverkamp M, Plomp AS, Norel JO, van Leeuwen R, de Jong PA, Visseren FLJ, Spiering W. Haverkamp M, et al. Among authors: plomp as. J Invest Dermatol. 2025 Sep 30:S0022-202X(25)02406-6. doi: 10.1016/j.jid.2025.08.030. Online ahead of print. J Invest Dermatol. 2025. PMID: 41026073 No abstract available.
Two pairs of CACNA1I (CaV3.3) variants with opposite effects on channel function cause neurodevelopmental disorders of varying severity.
El Ghaleb Y, Fernández-Quintero ML, Campiglio M, Tuluc P, Höing AS, Kortüm F, Motazacker MM, Jansen IE, Elting MW, Plomp AS, Fischer AM, Siu VM, Kutsche K, Flucher BE. El Ghaleb Y, et al. Among authors: plomp as. PLoS Genet. 2025 Aug 18;21(8):e1011828. doi: 10.1371/journal.pgen.1011828. eCollection 2025 Aug. PLoS Genet. 2025. PMID: 40825030 Free PMC article.
Pseudocolobomatous autosomal dominant atrophic maculopathy (PADAM).
Hensman J, van Schooneveld MJ, Diederen RMH, Plomp AS, de Muijnck C, Ten Brink JB, Florijn RJ, de Baere E, van Genderen MM, Boon CJF. Hensman J, et al. Among authors: plomp as. Ophthalmic Genet. 2025 Oct;46(5):468-473. doi: 10.1080/13816810.2025.2492045. Epub 2025 May 25. Ophthalmic Genet. 2025. PMID: 40415333 Free article.
Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder.
Pérez Baca MDR, 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, Zhao X, Saeidian AH, Owen NM, Santos-Simarro F, Lleuger-Pujol R, García-Miñaúr S, Losantos-García I, Menten B, Gestri G, Ragge N; ZFHX4 consortium; Sadikovic B, Bogaert E, Vleminckx K, Naert T, Syx D, Callewaert B, Vergult S. Pérez Baca MDR, et al. Am J Hum Genet. 2025 Jun 5;112(6):1388-1414. doi: 10.1016/j.ajhg.2025.04.008. Epub 2025 May 13. Am J Hum Genet. 2025. PMID: 40367947 Free PMC article.
Syndromic retinitis pigmentosa.
Karuntu JS, Almushattat H, Nguyen XT, Plomp AS, Wanders RJA, Hoyng CB, van Schooneveld MJ, Schalij-Delfos NE, Brands MM, Leroy BP, van Karnebeek CDM, Bergen AA, van Genderen MM, Boon CJF. Karuntu JS, et al. Among authors: plomp as. Prog Retin Eye Res. 2025 Jul;107:101324. doi: 10.1016/j.preteyeres.2024.101324. Epub 2024 Dec 27. Prog Retin Eye Res. 2025. PMID: 39733931 Free article. Review.
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.
Heutinck PAT, van den Born LI, Vermeer M, Iglesias Gonzales AI, Hoyng CB, Pott JWR, Kroes HY, van Schooneveld MJ, Boon CJF, van Genderen MM, Plomp AS, de Jong-Hesse Y, van Egmond-Ebbeling MB, Hoefsloot LH, A Bergen A, Klaver CCW, Meester-Smoor MA, Thiadens AAHJ, Verhoeven VJM. Heutinck PAT, et al. Among authors: plomp as. Invest Ophthalmol Vis Sci. 2024 Aug 1;65(10):40. doi: 10.1167/iovs.65.10.40. Invest Ophthalmol Vis Sci. 2024. PMID: 39189993 Free PMC article.
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.
Rots D, Bouman A, Yamada A, Levy M, Dingemans AJM, de Vries BBA, Ruiterkamp-Versteeg M, de Leeuw N, Ockeloen CW, Pfundt R, de Boer E, Kummeling J, van Bon B, van Bokhoven H, Kasri NN, Venselaar H, Alders M, Kerkhof J, McConkey H, Kuechler A, Elffers B, van Beeck Calkoen R, Hofman S, Smith A, Valenzuela MI, Srivastava S, Frazier Z, Maystadt I, Piscopo C, Merla G, Balasubramanian M, Santen GWE, Metcalfe K, Park SM, Pasquier L, Banka S, Donnai D, Weisberg D, Strobl-Wildemann G, Wagemans A, Vreeburg M, Baralle D, Foulds N, Scurr I, Brunetti-Pierri N, van Hagen JM, Bijlsma EK, Hakonen AH, Courage C, Genevieve D, Pinson L, Forzano F, Deshpande C, Kluskens ML, Welling L, Plomp AS, Vanhoutte EK, Kalsner L, Hol JA, Putoux A, Lazier J, Vasudevan P, Ames E, O'Shea J, Lederer D, Fleischer J, O'Connor M, Pauly M, Vasileiou G, Reis A, Kiraly-Borri C, Bouman A, Barnett C, Nezarati M, Borch L, Beunders G, Özcan K, Miot S, Volker-Touw CML, van Gassen KLI, Cappuccio G, Janssens K, Mor N, Shomer I, Dominissini D, Tedder ML, Muir AM, Sadikovic B, Brunner HG, Vissers LELM, Shinkai Y, Kleefstra T. Rots D, et al. Among authors: plomp as. Am J Hum Genet. 2024 Aug 8;111(8):1605-1625. doi: 10.1016/j.ajhg.2024.06.008. Epub 2024 Jul 15. Am J Hum Genet. 2024. PMID: 39013458 Free PMC article.
64 results