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Page 1
Biallelic variants in FLII cause pediatric cardiomyopathy by disrupting cardiomyocyte cell adhesion and myofibril organization.
Ruijmbeek CW, Housley F, Idrees H, Housley MP, Pestel J, Keller L, Lai JK, der Linde HCV, Willemsen R, Piesker J, Al-Hassnan ZN, Almesned A, Dalinghaus M, den Bersselaar LMV, van Slegtenhorst MA, Tessadori F, Bakkers J, van Ham TJ, Stainier DY, Verhagen JM, Reischauer S. Ruijmbeek CW, et al. Among authors: van slegtenhorst ma. JCI Insight. 2023 Sep 8;8(17):e168247. doi: 10.1172/jci.insight.168247. JCI Insight. 2023. PMID: 37561591 Free PMC article.
Phenotypic variability of filamin C-related cardiomyopathy: Insights from a novel Dutch founder variant.
Schoonvelde SAC, Ruijmbeek CWB, Hirsch A, van Slegtenhorst MA, Wessels MW, von der Thüsen JH, Baas AF, Stroeks SLVM, Verdonschot JAJ, van der Zwaag PA, Verhagen JMA, Michels M. Schoonvelde SAC, et al. Among authors: van slegtenhorst ma. Heart Rhythm. 2023 Nov;20(11):1512-1521. doi: 10.1016/j.hrthm.2023.08.003. Epub 2023 Aug 9. Heart Rhythm. 2023. PMID: 37562486
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
Claus LR, Chen C, Stallworth J, Turner JL, Slaats GG, Hawks AL, Mabillard H, Senum SR, Srikanth S, Flanagan-Steet H, Louie RJ, Silver J, Lerner-Ellis J, Morel C, Mighton C, Sleutels F, van Slegtenhorst M, van Ham T, Brooks AS, Dorresteijn EM, Barakat TS, Dahan K, Demoulin N, Goffin EJ, Olinger E; Genomics England Research Consortium; Larsen M, Hertz JM, Lilien MR, Obeidová L, Seeman T, Stone HK, Kerecuk L, Gurgu M, Yousef Yengej FA, Ammerlaan CME, Rookmaaker MB, Hanna C, Rogers RC, Duran K, Peters E, Sayer JA, van Haaften G, Harris PC, Ling K, Mason JM, van Eerde AM, Steet R. Claus LR, et al. Kidney Int. 2023 Nov;104(5):995-1007. doi: 10.1016/j.kint.2023.07.021. Epub 2023 Aug 19. Kidney Int. 2023. PMID: 37598857
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
Almousa H, Lewis SA, Bakhtiari S, Nordlie SH, Pagnozzi A, Magee H, Efthymiou S, Heim JA, Cornejo P, Zaki MS, Anwar N, Maqbool S, Rahman F, Neilson DE, Vemuri A, Jin SC, Yang XR, Heidari A, van Gassen K, Trimouille A, Thauvin-Robinet C, Liu J, Bruel AL, Tomoum H, Shata MO, Hashem MO, Toosi MB, Karimiani EG, Yeşil G, Lingappa L, Baruah D, Ebrahimzadeh F, Van-Gils J, Faivre L, Zamani M, Galehdari H, Sadeghian S, Shariati G, Mohammad R, van der Smagt J, Qari A, Vincent JB, Innes AM, Dursun A, Özgül RK, Akar HT, Bilguvar K, Mignot C, Keren B, Raveli C, Burglen L, Afenjar A, Kaat LD, van Slegtenhorst M, Alkuraya F, Houlden H, Padilla-Lopez S, Maroofian R, Sacher M, Kruer MC. Almousa H, et al. Brain. 2024 Jan 4;147(1):311-324. doi: 10.1093/brain/awad301. Brain. 2024. PMID: 37713627
The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant.
Bos TA, Piers SRD, Wessels MW, Houweling AC, Bökenkamp R, Bootsma M, Bosman LP, Evertz R, Hellebrekers DMEI, Hoedemaekers YM, Knijnenburg J, Lekanne Deprez R, van Mil AM, Te Riele ASJM, van Slegtenhorst MA, Wilde AAM, Yap SC, Dooijes D, Koopmann TT, van Tintelen JP, Barge-Schaapveld DQCM; European Reference Network for rare, low prevalence and complex diseases of the heart: ERN GUARD-Heart. Bos TA, et al. Among authors: van slegtenhorst ma. Neth Heart J. 2023 Aug;31(7-8):315-323. doi: 10.1007/s12471-023-01791-2. Epub 2023 Jul 28. Neth Heart J. 2023. PMID: 37505369 Free PMC article.
Cancer Treatment-Related Complications in Patients With Hypertrophic Cardiomyopathy.
Zampieri M, Schoonvelde SAC, Vinci M, Meattini I, Visani L, Fornaro A, Coppini R, Romei A, Marchi A, Morelli I, van Slegtenhorst MA, Palinkas ED, Livi L, Michels M, Olivotto I. Zampieri M, et al. Among authors: van slegtenhorst ma. Mayo Clin Proc. 2024 Feb;99(2):218-228. doi: 10.1016/j.mayocp.2023.10.003. Epub 2024 Jan 5. Mayo Clin Proc. 2024. PMID: 38180395
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.
Fasham J, Huebner AK, Liebmann L, Khalaf-Nazzal R, Maroofian R, Kryeziu N, Wortmann SB, Leslie JS, Ubeyratna N, Mancini GMS, van Slegtenhorst M, Wilke M, Haack TB, Shamseldin HE, Gleeson JG, Almuhaizea M, Dweikat I, Abu-Libdeh B, Daana M, Zaki MS, Wakeling MN, McGavin L, Turnpenny PD, Alkuraya FS, Houlden H, Schlattmann P, Kaila K, Crosby AH, Baple EL, Hübner CA. Fasham J, et al. Brain. 2023 Nov 2;146(11):4547-4561. doi: 10.1093/brain/awad235. Brain. 2023. PMID: 37459438 Free PMC article.
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder.
Albuainain F, Shi Y, Lor-Zade S, Hüffmeier U, Pauly M, Reis A, Faivre L, Maraval J, Bruel AL, Them FTM, Haack TB, Grasshoff U, Horber V, Schot R, van Slegtenhorst M, Wilke M, Barakat TS. Albuainain F, et al. Eur J Hum Genet. 2024 Mar;32(3):350-356. doi: 10.1038/s41431-023-01530-6. Epub 2024 Jan 10. Eur J Hum Genet. 2024. PMID: 38200082 Free PMC article.
Multicenter clinical and functional evidence reclassifies a recurrent noncanonical filamin C splice-altering variant.
O'Neill MJ, Chen SN, Rumping L, Johnson R, van Slegtenhorst M, Glazer AM, Yang T, Solus JF, Laudeman J, Mitchell DW, Vanags LR, Kroncke BM, Anderson K, Gao S, Verdonschot JAJ, Brunner H, Hellebrekers D, Taylor MRG, Roden DM, Wessels MW, Lekanne Dit Deprez RH, Fatkin D, Mestroni L, Shoemaker MB. O'Neill MJ, et al. Heart Rhythm. 2023 Aug;20(8):1158-1166. doi: 10.1016/j.hrthm.2023.05.006. Epub 2023 May 9. Heart Rhythm. 2023. PMID: 37164047 Free PMC article.
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.
Lecoquierre F, Punt AM, Ebstein F, Wallaard I, Verhagen R, Studencka-Turski M, Duffourd Y, Moutton S, Tran Mau-Them F, Philippe C, Dean J, Tennant S, Brooks AS, van Slegtenhorst MA, Jurgens JA, Barry BJ, Chan WM, England EM, Martinez Ojeda M, Engle EC, Robson CD, Morrow M, Innes AM, Lamont R, Sanderson M, Krüger E, Thauvin C, Distel B, Faivre L, Elgersma Y, Vitobello A. Lecoquierre F, et al. Among authors: van slegtenhorst ma. Genet Med. 2024 Mar 7;26(6):101119. doi: 10.1016/j.gim.2024.101119. Online ahead of print. Genet Med. 2024. PMID: 38465576 Free article.
68 results