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Page 1
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.
Accogli A, Shakya S, Yang T, Insinna C, Kim SY, Bell D, Butov KR, Severino M, Niceta M, Scala M, Lee HS, Yoo T, Stauffer J, Zhao H, Fiorillo C, Pedemonte M, Diana MC, Baldassari S, Zakharova V, Shcherbina A, Rodina Y, Fagerberg C, Roos LS, Wierzba J, Dobosz A, Gerard A, Potocki L, Rosenfeld JA, Lalani SR, Scott TM, Scott D, Azamian MS, Louie R, Moore HW, Champaigne NL, Hollingsworth G, Torella A, Nigro V, Ploski R, Salpietro V, Zara F, Pizzi S, Chillemi G, Ognibene M, Cooney E, Do J, Linnemann A, Larsen MJ, Specht S, Walters KJ, Choi HJ, Choi M, Tartaglia M, Youkharibache P, Chae JH, Capra V, Park SG, Westlake CJ. Accogli A, et al. Among authors: champaigne nl. Nat Commun. 2024 Jan 8;15(1):365. doi: 10.1038/s41467-023-44611-2. Nat Commun. 2024. PMID: 38191484 Free PMC article.
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
Gehin C, Lone MA, Lee W, Capolupo L, Ho S, Adeyemi AM, Gerkes EH, Stegmann AP, López-Martín E, Bermejo-Sánchez E, Martínez-Delgado B, Zweier C, Kraus C, Popp B, Strehlow V, Gräfe D, Knerr I, Jones ER, Zamuner S, Abriata LA, Kunnathully V, Moeller BE, Vocat A, Rommelaere S, Bocquete JP, Ruchti E, Limoni G, Van Campenhoudt M, Bourgeat S, Henklein P, Gilissen C, van Bon BW, Pfundt R, Willemsen MH, Schieving JH, Leonardi E, Soli F, Murgia A, Guo H, Zhang Q, Xia K, Fagerberg CR, Beier CP, Larsen MJ, Valenzuela I, Fernández-Álvarez P, Xiong S, Śmigiel R, López-González V, Armengol L, Morleo M, Selicorni A, Torella A, Blyth M, Cooper NS, Wilson V, Oegema R, Herenger Y, Garde A, Bruel AL, Tran Mau-Them F, Maddocks AB, Bain JM, Bhat MA, Costain G, Kannu P, Marwaha A, Champaigne NL, Friez MJ, Richardson EB, Gowda VK, Srinivasan VM, Gupta Y, Lim TY, Sanna-Cherchi S, Lemaitre B, Yamaji T, Hanada K, Burke JE, Jakšić AM, McCabe BD, De Los Rios P, Hornemann T, D'Angelo G, Gennarino VA. Gehin C, et al. Among authors: champaigne nl. J Clin Invest. 2023 May 15;133(10):e165019. doi: 10.1172/JCI165019. J Clin Invest. 2023. PMID: 36976648 Free PMC article.
DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.
Coenen-van der Spek J, Relator R, Kerkhof J, McConkey H, Levy MA, Tedder ML, Louie RJ, Fletcher RS, Moore HW, Childers A, Farrelly ER, Champaigne NL, Lyons MJ, Everman DB, Rogers RC, Skinner SA, Renck A, Matalon DR, Dills SK, Monteleone B, Demirdas S, Dingemans AJM, Donker Kaat L, Kolk SM, Pfundt R, Rump P, Sadikovic B, Kleefstra T, Butler KM. Coenen-van der Spek J, et al. Among authors: champaigne nl. Genet Med. 2023 Jan;25(1):63-75. doi: 10.1016/j.gim.2022.10.004. Epub 2022 Nov 18. Genet Med. 2023. PMID: 36399132 Free article.
The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.
Chatron N, Møller RS, Champaigne NL, Schneider AL, Kuechler A, Labalme A, Simonet T, Baggett L, Bardel C, Kamsteeg EJ, Pfundt R, Romano C, Aronsson J, Alberti A, Vinci M, Miranda MJ, Lacroix A, Marjanovic D, des Portes V, Edery P, Wieczorek D, Gardella E, Scheffer IE, Mefford H, Sanlaville D, Carvill GL, Lesca G. Chatron N, et al. Among authors: champaigne nl. Ann Neurol. 2018 May;83(5):926-934. doi: 10.1002/ana.25222. Epub 2018 Apr 30. Ann Neurol. 2018. PMID: 29630738 Free PMC article.
New observation of sialuria prompts detection of liver tumor in previously reported patient.
Champaigne NL, Leroy JG, Kishnani PS, Decaestecker J, Steenkiste E, Chaubey A, Li J, Verslype C, Van Dorpe J, Pollard L, Goldstein JL, Libbrecht L, Basehore M, Chen N, Hu H, Wood T, Friez MJ, Huizing M, Stevenson RE. Champaigne NL, et al. Mol Genet Metab. 2016 Jun;118(2):92-9. doi: 10.1016/j.ymgme.2016.04.004. Epub 2016 Apr 16. Mol Genet Metab. 2016. PMID: 27142465 Free PMC article.
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group. Wolf NI, et al. Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22. Neurology. 2014. PMID: 25339210 Free PMC article.
Long-term observation of a patient with dominant omodysplasia.
Gordon BL, Champaigne NL, Rogers RC, Frias JL, Leroy JG. Gordon BL, et al. Among authors: champaigne nl. Am J Med Genet A. 2014 May;164A(5):1234-8. doi: 10.1002/ajmg.a.36408. Epub 2014 Jan 23. Am J Med Genet A. 2014. PMID: 24458798
15 results