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Page 1
Genetic testing in renal disease.
Bockenhauer D, Medlar AJ, Ashton E, Kleta R, Lench N. Bockenhauer D, et al. Among authors: lench n. Pediatr Nephrol. 2012 Jun;27(6):873-83. doi: 10.1007/s00467-011-1865-2. Epub 2011 May 27. Pediatr Nephrol. 2012. PMID: 21617915 Review.
Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.
Cross JH, Arora R, Heckemann RA, Gunny R, Chong K, Carr L, Baldeweg T, Differ AM, Lench N, Varadkar S, Sirimanna T, Wassmer E, Hulton SA, Ognjanovic M, Ramesh V, Feather S, Kleta R, Hammers A, Bockenhauer D. Cross JH, et al. Among authors: lench n. Dev Med Child Neurol. 2013 Sep;55(9):846-56. doi: 10.1111/dmcn.12171. Dev Med Child Neurol. 2013. PMID: 23924083 Free PMC article.
KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16.
Parrock S, Hussain S, Issler N, Differ AM, Lench N, Guarino S, Oosterveld MJ, Keijzer-Veen M, Brilstra E, van Wieringen H, Konijnenberg AY, Amin-Rasip S, Dumitriu S, Klootwijk E, Knoers N, Bockenhauer D, Kleta R, Zdebik AA. Parrock S, et al. Among authors: lench n. Nephron Physiol. 2013;123(3-4):7-14. doi: 10.1159/000356353. Epub 2013 Nov 2. Nephron Physiol. 2013. PMID: 24193250 Free article.
Whole-genome sequencing of patients with rare diseases in a national health system.
Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, Chinnery PF, Dixon PH, Gale DP, James R, Koziell A, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Ormondroyd E, Rankin S, Rendon A, Richardson S, Roberts I, Roy NBA, Saleem MA, Smith KGC, Stark H, Tan RYY, Themistocleous AC, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Bentley DR; NIHR BioResource for the 100,000 Genomes Project; Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH. Turro E, et al. Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24. Nature. 2020. PMID: 32581362 Free PMC article.
Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletions.
Kasperavičiūtė D, Catarino CB, Chinthapalli K, Clayton LM, Thom M, Martinian L, Cohen H, Adalat S, Bockenhauer D, Pope SA, Lench N, Koltzenburg M, Duncan JS, Hammond P, Hennekam RC, Land JM, Sisodiya SM. Kasperavičiūtė D, et al. Among authors: lench n. PLoS One. 2011;6(8):e23182. doi: 10.1371/journal.pone.0023182. Epub 2011 Aug 17. PLoS One. 2011. PMID: 21858020 Free PMC article.
Diagnostic implications of genetic copy number variation in epilepsy plus.
Coppola A, Cellini E, Stamberger H, Saarentaus E, Cetica V, Lal D, Djémié T, Bartnik-Glaska M, Ceulemans B, Helen Cross J, Deconinck T, Masi S, Dorn T, Guerrini R, Hoffman-Zacharska D, Kooy F, Lagae L, Lench N, Lemke JR, Lucenteforte E, Madia F, Mefford HC, Morrogh D, Nuernberg P, Palotie A, Schoonjans AS, Striano P, Szczepanik E, Tostevin A, Vermeesch JR, Van Esch H, Van Paesschen W, Waters JJ, Weckhuysen S, Zara F, De Jonghe P, Sisodiya SM, Marini C; EuroEPINOMICS-RES Consortium; EpiCNV Consortium. Coppola A, et al. Among authors: lench n. Epilepsia. 2019 Apr;60(4):689-706. doi: 10.1111/epi.14683. Epub 2019 Mar 13. Epilepsia. 2019. PMID: 30866059 Free PMC article.
126 results