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'Something that helped the whole picture': Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service.
McInnes-Dean H, Mellis R, Daniel M, Walton H, Baple EL, Bertoli M, Fisher J, Gajewska-Knapik K, Holder-Espinasse M, Lafarge C, Leeson-Beevers K, McEwan A, Pandya P, Parker M, Peet S, Roberts L, Sankaran S, Smith A, Tapon D, Wu WH, Wynn SL, Chitty LS, Hill M, Peter M. McInnes-Dean H, et al. Among authors: holder espinasse m. Prenat Diagn. 2024 Apr;44(4):465-479. doi: 10.1002/pd.6537. Epub 2024 Mar 5. Prenat Diagn. 2024. PMID: 38441167
Prenatal detection of copy number variants.
Wafik M, Pendlebury-Watt A, Price K, Tomlinson C, Fowler E, Chandler N, Holder-Espinasse M. Wafik M, et al. Among authors: holder espinasse m. Best Pract Res Clin Obstet Gynaecol. 2024 Dec;97:102547. doi: 10.1016/j.bpobgyn.2024.102547. Epub 2024 Sep 7. Best Pract Res Clin Obstet Gynaecol. 2024. PMID: 39278051 Review.
Implementation of a national rapid prenatal exome sequencing service in England: evaluation of service outcomes and factors associated with regional variation.
Ramakrishnan R, Mallinson C, Hardy S, Broughan J, Blyth M, Melis G, Franklin C, Hill M, Mellis R, Wu WH, Allen S, Chitty LS, Knight M; EXPRESS Clinical Outcomes Group. Ramakrishnan R, et al. Front Genet. 2024 Nov 6;15:1485306. doi: 10.3389/fgene.2024.1485306. eCollection 2024. Front Genet. 2024. PMID: 39568676 Free PMC article.
Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiences.
Peter M, Mellis R, McInnes-Dean H, Daniel M, Walton H, Fisher J, Leeson-Beevers K, Allen S, Baple EL, Beleza-Meireles A, Bertoli M, Campbell J, Canham N, Cilliers D, Cobben J, Eason J, Harrison V, Holder-Espinasse M, Male A, Mansour S, McEwan A, Park SM, Smith A, Stewart A, Tapon D, Vasudevan P, Williams D, Wu WH, Chitty LS, Hill M. Peter M, et al. Among authors: holder espinasse m. Front Genet. 2024 Jun 5;15:1401705. doi: 10.3389/fgene.2024.1401705. eCollection 2024. Front Genet. 2024. PMID: 38903755 Free PMC article.
CHIME Syndrome in a Child With Homozygous PIGL p.Leu167Pro Variant.
Arany ES, Zocche D, Mellerio JE, Holder-Espinasse M, Cobben J. Arany ES, et al. Among authors: holder espinasse m. Am J Med Genet A. 2024 Dec 6:e63962. doi: 10.1002/ajmg.a.63962. Online ahead of print. Am J Med Genet A. 2024. PMID: 39641205
Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.
Buchert R, Burkhalter MD, Huridou C, Sofan L, Roser T, Cremer K, Alvi JR, Efthymiou S, Froukh T, Gulieva S, Guliyeva U, Hamdallah M, Holder-Espinasse M, Kaiyrzhanov R, Klingler D, Koko M, Matthies L, Park J, Sturm M, Velic A, Spranger S, Sultan T, Engels H, Lerche H, Houlden H, Pagnamenta AT, Borggraefe I, Weber Y, Bonnen PE, Maroofian R, Riess O, Weber JJ, Philipp M, Haack TB. Buchert R, et al. Among authors: holder espinasse m. Am J Hum Genet. 2025 Jan 10:S0002-9297(24)00461-0. doi: 10.1016/j.ajhg.2024.12.019. Online ahead of print. Am J Hum Genet. 2025. PMID: 39824192 Free article.
115 results