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Utility of Genomic Testing after Renal Biopsy.
Murray SL, Dorman A, Benson KA, Connaughton DM, Stapleton CP, Fennelly NK, Kennedy C, McDonnell CA, Kidd K, Cormican SM, Ryan LA, Lavin P, Little MA, Bleyer AJ, Doyle B, Cavalleri GL, Hildebrandt F, Conlon PJ. Murray SL, et al. Among authors: benson ka. Am J Nephrol. 2020;51(1):43-53. doi: 10.1159/000504869. Epub 2019 Dec 10. Am J Nephrol. 2020. PMID: 31822006 Free PMC article.
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability.
Benson KA, White M, Allen NM, Byrne S, Carton R, Comerford E, Costello D, Doherty C, Dunleavey B, El-Naggar H, Gangadharan N, Heavin S, Kearney H, Lench NJ, Lynch J, McCormack M, Regan MO, Podesta K, Power K, Rogers AS, Steward CA, Sweeney B, Webb D, Fitzsimons M, Greally M, Delanty N, Cavalleri GL. Benson KA, et al. Eur J Hum Genet. 2020 Aug;28(8):1066-1077. doi: 10.1038/s41431-020-0610-3. Epub 2020 Apr 1. Eur J Hum Genet. 2020. PMID: 32238909 Free PMC article.
Diagnostic utility of genetic testing in patients undergoing renal biopsy.
Benson KA, Murray SL, Doyle R, Doyle B, Dorman AM, Sadlier D, Brennan E, Large M, Cavalleri GL, Godson C, Conlon PJ. Benson KA, et al. Cold Spring Harb Mol Case Stud. 2020 Oct 7;6(5):a005462. doi: 10.1101/mcs.a005462. Print 2020 Oct. Cold Spring Harb Mol Case Stud. 2020. PMID: 32723786 Free PMC article.
The genetic landscape of polycystic kidney disease in Ireland.
Benson KA, Murray SL, Senum SR, Elhassan E, Conlon ET, Kennedy C, Conlon S, Gilbert E, Connaughton D, O'Hara P, Khamis S, Cormican S, Brody LC, Molloy AM, Lynch SA, Casserly L, Griffin MD, Carton R, Yachnin K, Harris PC, Cavalleri GL, Conlon P. Benson KA, et al. Eur J Hum Genet. 2021 May;29(5):827-838. doi: 10.1038/s41431-020-00806-5. Epub 2021 Jan 16. Eur J Hum Genet. 2021. PMID: 33454723 Free PMC article.
The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: experience of the Irish Kidney Gene Project.
Elhassan EAE, Murray SL, Connaughton DM, Kennedy C, Cormican S, Cowhig C, Stapleton C, Little MA, Kidd K, Bleyer AJ, Živná M, Kmoch S, Fennelly NK, Doyle B, Dorman A, Griffin MD, Casserly L, Harris PC, Hildebrandt F, Cavalleri GL, Benson KA, Conlon PJ. Elhassan EAE, et al. Among authors: benson ka. J Nephrol. 2022 Jul;35(6):1655-1665. doi: 10.1007/s40620-021-01236-2. Epub 2022 Jan 31. J Nephrol. 2022. PMID: 35099770 Free PMC article.
KBG syndrome mimicking genetic generalized epilepsy.
Murphy MJ, McSweeney N, Cavalleri GL, Greally MT, Benson KA, Costello DJ. Murphy MJ, et al. Among authors: benson ka. Epilepsy Behav Rep. 2022 Apr 20;19:100545. doi: 10.1016/j.ebr.2022.100545. eCollection 2022. Epilepsy Behav Rep. 2022. PMID: 35573061 Free PMC article.
The role of common genetic variation in presumed monogenic epilepsies.
Campbell C, Leu C, Feng YA, Wolking S, Moreau C, Ellis C, Ganesan S, Martins H, Oliver K, Boothman I, Benson K, Molloy A, Brody L; Epi4K Collaborative; Genomics England Research Consortium; Michaud JL, Hamdan FF, Minassian BA, Lerche H, Scheffer IE, Sisodiya S, Girard S, Cosette P, Delanty N, Lal D, Cavalleri GL; Epi25 Collaborative. Campbell C, et al. Among authors: benson k. EBioMedicine. 2022 Jul;81:104098. doi: 10.1016/j.ebiom.2022.104098. Epub 2022 Jun 6. EBioMedicine. 2022. PMID: 35679801 Free PMC article.
Germline mosaicism in a family with MBD5 haploinsufficiency.
Bhatia M, Cavalleri GL, White M, Delanty N, Sweeney BJ, Costello DJ, Greally MT, Benson KA. Bhatia M, et al. Cold Spring Harb Mol Case Stud. 2022 Dec 28;8(7):a006253. doi: 10.1101/mcs.a006253. Print 2022 Dec. Cold Spring Harb Mol Case Stud. 2022. PMID: 36396431 Free PMC article.
400 results