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Page 1
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.
Kerkhof J, Rastin C, Levy MA, Relator R, McConkey H, Demain L, Dominguez-Garrido E, Kaat LD, Houge SD, DuPont BR, Fee T, Fletcher RS, Gokhale D, Haukanes BI, Henneman P, Hilton S, Hilton BA, Jenkinson S, Lee JA, Louie RJ, Motazacker MM, Rzasa J, Stevenson RE, Plomp A, van der Laan L, van der Smagt J, Walden KK, Banka S, Mannens M, Skinner SA, Friez MJ, Campbell C, Tedder ML, Alders M, Sadikovic B. Kerkhof J, et al. Among authors: kaat ld. Genet Med. 2024 May;26(5):101075. doi: 10.1016/j.gim.2024.101075. Epub 2024 Jan 18. Genet Med. 2024. PMID: 38251460 Free article.
Recruitment of trimeric eIF2 by phosphatase non-catalytic subunit PPP1R15B.
Fatalska A, Hodgson G, Freund SMV, Maslen SL, Morgan T, Thorkelsson SR, van Slegtenhorst M, Lorenz S, Andreeva A, Kaat LD, Bertolotti A. Fatalska A, et al. Among authors: kaat ld. Mol Cell. 2024 Feb 1;84(3):506-521.e11. doi: 10.1016/j.molcel.2023.12.011. Epub 2023 Dec 29. Mol Cell. 2024. PMID: 38159565 Free PMC article.
Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy.
Wang H, Chang TS, Dombroski BA, Cheng PL, Patil V, Valiente-Banuet L, Farrell K, Mclean C, Molina-Porcel L, Rajput A, De Deyn PP, Le Bastard N, Gearing M, Kaat LD, Van Swieten JC, Dopper E, Ghetti BF, Newell KL, Troakes C, de Yébenes JG, Rábano-Gutierrez A, Meller T, Oertel WH, Respondek G, Stamelou M, Arzberger T, Roeber S, Müller U, Hopfner F, Pastor P, Brice A, Durr A, Le Ber I, Beach TG, Serrano GE, Hazrati LN, Litvan I, Rademakers R, Ross OA, Galasko D, Boxer AL, Miller BL, Seeley WW, Van Deerlin VM, Lee EB, White CL 3rd, Morris H, de Silva R, Crary JF, Goate AM, Friedman JS, Leung YY, Coppola G, Naj AC, Wang LS; P. S. P. genetics study group; Dalgard C, Dickson DW, Höglinger GU, Schellenberg GD, Geschwind DH, Lee WP. Wang H, et al. Among authors: kaat ld. Mol Neurodegener. 2024 Aug 16;19(1):61. doi: 10.1186/s13024-024-00747-3. Mol Neurodegener. 2024. PMID: 39152475 Free PMC article.
Missense variants in TUBA4A cause myo-tubulinopathies.
Johari M, Folland C, Saito Y, Oud MM, Parmar JM, Töpf A, Kurbatov S, Ampleeva M, Zakharova EY, Chekmareva IA, Shirokova KS, Atiakshin D, Gardeitchik T, Kamsteeg EJ, Medici E, Kaat LD, Bruels CC, Stafki SA, Estrella EA, Littel HR, Kunkel LM, Kang PB, Osei-Owusu I, Pais L, O'Leary M, Austin-Tse C, O'Donnell-Luria A, Mangilog B, Radio FC, D'Amico A, Ciolfi A, Tartaglia M, Perrin A, Van Goethem C, Sole G, Martin-Négrier ML, Cossée M, Genetti CA, Valivullah ZM, Milic V, Kovacevic G, Kosac A, Moreno CAM, Camelo CG, Zanoteli E, Fahey MC, Beggs AH, Vissing J, Straub V, Savarese M, Tasca G, Voermans N, Laing NG, Udd B, Nishino I, Ravenscroft G. Johari M, et al. Among authors: kaat ld. medRxiv [Preprint]. 2025 Jun 28:2025.06.26.25330266. doi: 10.1101/2025.06.26.25330266. medRxiv. 2025. PMID: 40666348 Free PMC article. Preprint.
Correction: Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy.
Wang H, Chang TS, Dombroski BA, Cheng PL, Patil V, Valiente-Banuet L, Farrell K, Mclean C, Molina-Porcel L, Rajput A, De Deyn PP, Le Bastard N, Gearing M, Kaat LD, Van Swieten JC, Dopper E, Ghetti BF, Newell KL, Troakes C, de Yébenes JG, Rábano-Gutierrez A, Meller T, Oertel WH, Respondek G, Stamelou M, Arzberger T, Roeber S, Müller U, Hopfner F, Pastor P, Brice A, Durr A, Le Ber I, Beach TG, Serrano GE, Hazrati LN, Litvan I, Rademakers R, Ross OA, Galasko D, Boxer AL, Miller BL, Seeley WW, Van Deerlin VM, Lee EB, White CL 3rd, Morris H, de Silva R, Crary JF, Goate AM, Friedman JS, Leung YY, Coppola G, Naj AC, Wang LS; P. S. P. genetics study group; Dalgard C, Dickson DW, Höglinger GU, Schellenberg GD, Geschwind DH, Lee WP. Wang H, et al. Among authors: kaat ld. Mol Neurodegener. 2024 Oct 14;19(1):73. doi: 10.1186/s13024-024-00763-3. Mol Neurodegener. 2024. PMID: 39402686 Free PMC article. No abstract available.
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. Among authors: kaat ld. Brain. 2024 Jan 4;147(1):311-324. doi: 10.1093/brain/awad301. Brain. 2024. PMID: 37713627 Free PMC article.
Targeted plasma proteomics uncover proteins associated with KIF5A-linked SPG10 and ALS spectrum disorders.
Dulski J, Boddapati AK, Risi B, Iruzubieta P, Orlacchio A, Fernández-Torrón R, Castillo-Triviño T, López de Munain A, Vucic S, Padovani A, Kaat LD, Barakat TS, Petrucelli L, Prudencio M, Landers JE, Weishaupt JH, Prokop A, Filosto M, Wszolek ZK, Pant DC. Dulski J, et al. Among authors: kaat ld. HGG Adv. 2025 Aug 27;7(1):100498. doi: 10.1016/j.xhgg.2025.100498. Online ahead of print. HGG Adv. 2025. PMID: 40873038 Free article.
Imaging and fluid biomarkers in frontotemporal dementia.
Meeter LH, Kaat LD, Rohrer JD, van Swieten JC. Meeter LH, et al. Among authors: kaat ld. Nat Rev Neurol. 2017 Jul;13(7):406-419. doi: 10.1038/nrneurol.2017.75. Epub 2017 Jun 16. Nat Rev Neurol. 2017. PMID: 28621768 Review.
Novel TUBA4A Variant Associated With Familial Frontotemporal Dementia.
Mol MO, Wong TH, Melhem S, Basu S, Viscusi R, Galjart N, Rozemuller AJM, Fallini C, Landers JE, Kaat LD, Seelaar H, van Rooij JGJ, van Swieten JC. Mol MO, et al. Among authors: kaat ld. Neurol Genet. 2021 May 18;7(3):e596. doi: 10.1212/NXG.0000000000000596. eCollection 2021 Jun. Neurol Genet. 2021. PMID: 34169147 Free PMC article.
Underlying genetic variation in familial frontotemporal dementia: sequencing of 198 patients.
Mol MO, van Rooij JGJ, Wong TH, Melhem S, Verkerk AJMH, Kievit AJA, van Minkelen R, Rademakers R, Pottier C, Kaat LD, Seelaar H, van Swieten JC, Dopper EGP. Mol MO, et al. Among authors: kaat ld. Neurobiol Aging. 2021 Jan;97:148.e9-148.e16. doi: 10.1016/j.neurobiolaging.2020.07.014. Epub 2020 Jul 30. Neurobiol Aging. 2021. PMID: 32843152 Free article.
16 results