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Genetic and phenotypic spectrum in the NONO-associated syndromic disorder.
Roessler F, Beck AE, Susie B, Tobias B, Begtrup A, Biskup S, Caluseriu O, Delanty N, Fröhlich C, Greally MT, Karnstedt M, Klöckner C, Kurtzberg J, Schubert S, Schulze M, Weidenbach M, Westphal DS, White M, Wolf CM, Zyskind J, Popp B, Strehlow V. Roessler F, et al. Among authors: white m. Am J Med Genet A. 2023 Feb;191(2):469-478. doi: 10.1002/ajmg.a.63044. Epub 2022 Nov 25. Am J Med Genet A. 2023. PMID: 36426740 Review.
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. Among authors: white m. 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.
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. Among authors: white m. 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.
The development of an epilepsy electronic patient portal: Facilitating both patient empowerment and remote clinician-patient interaction in a post-COVID-19 world.
Power K, McCrea Z, White M, Breen A, Dunleavy B, O'Donoghue S, Jacquemard T, Lambert V, El-Naggar H, Delanty N, Doherty C, Fitzsimons M. Power K, et al. Among authors: white m. Epilepsia. 2020 Sep;61(9):1894-1905. doi: 10.1111/epi.16627. Epub 2020 Aug 10. Epilepsia. 2020. PMID: 32668026 Free PMC article.
Coproducing health and well-being in partnership with patients, families, and healthcare providers: A qualitative study exploring the role of an epilepsy patient portal.
McCrea Z, Power K, Kiersey R, White M, Breen A, Murphy S, Healy L, Kearney H, Dunleavy B, O'Donoghue S, Lambert V, Delanty N, Doherty C, Fitzsimons M. McCrea Z, et al. Among authors: white m. Epilepsy Behav. 2021 Feb;115:107664. doi: 10.1016/j.yebeh.2020.107664. Epub 2020 Dec 15. Epilepsy Behav. 2021. PMID: 33334718
7,498 results