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Correction: Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.
Wang J, Foroutan A, Richardson E, Skinner SA, Reilly J, Kerkhof J, Curry CJ, Tarpey PS, Robertson SP, Maystadt I, Keren B, Dixon JW, Skinner C, Stapleton R, Ruaud L, Gumus E, Lakeman P, Alders M, Tedder ML, Schwartz CE, Friez MJ, Sadikovic B, Stevenson RE. Wang J, et al. Among authors: stapleton r. Eur J Hum Genet. 2023 Dec 1. doi: 10.1038/s41431-023-01499-2. Online ahead of print. Eur J Hum Genet. 2023. PMID: 38040915 No abstract available.
Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.
Wang J, Foroutan A, Richardson E, Skinner SA, Reilly J, Kerkhof J, Curry CJ, Tarpey PS, Robertson SP, Maystadt I, Keren B, Dixon JW, Skinner C, Stapleton R, Ruaud L, Gumus E, Lakeman P, Alders M, Tedder ML, Schwartz CE, Friez MJ, Sadikovic B, Stevenson RE. Wang J, et al. Among authors: stapleton r. Eur J Hum Genet. 2022 Apr;30(4):420-427. doi: 10.1038/s41431-021-01018-1. Epub 2022 Jan 7. Eur J Hum Genet. 2022. PMID: 34992252 Free PMC article.
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.
Novara F, Rinaldi B, Sisodiya SM, Coppola A, Giglio S, Stanzial F, Benedicenti F, Donaldson A, Andrieux J, Stapleton R, Weber A, Reho P, van Ravenswaaij-Arts C, Kerstjens-Frederikse WS, Vermeesch JR, Devriendt K, Bacino CA, Delahaye A, Maas SM, Iolascon A, Zuffardi O. Novara F, et al. Among authors: stapleton r. Eur J Hum Genet. 2017 Jun;25(6):694-701. doi: 10.1038/ejhg.2017.49. Epub 2017 Apr 19. Eur J Hum Genet. 2017. PMID: 28422132 Free PMC article.
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability.
Tan NB, Pagnamenta AT, Ferla MP, Gadian J, Chung BH, Chan MC, Fung JL, Cook E, Guter S, Boschann F, Heinen A, Schallner J, Mignot C, Keren B, Whalen S, Sarret C, Mittag D, Demmer L, Stapleton R, Saida K, Matsumoto N, Miyake N, Sheffer R, Mor-Shaked H, Barnett CP, Byrne AB, Scott HS, Kraus A, Cappuccio G, Brunetti-Pierri N, Iorio R, Di Dato F, Pais LS, Yeung A, Tan TY, Taylor JC, Christodoulou J, White SM. Tan NB, et al. Among authors: stapleton r. J Med Genet. 2022 May;59(5):511-516. doi: 10.1136/jmedgenet-2020-107462. Epub 2021 Jun 28. J Med Genet. 2022. PMID: 34183358
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.
Tan NB, Stapleton R, Stark Z, Delatycki MB, Yeung A, Hunter MF, Amor DJ, Brown NJ, Stutterd CA, McGillivray G, Yap P, Regan M, Chong B, Fanjul Fernandez M, Marum J, Phelan D, Pais LS, White SM, Lunke S, Tan TY. Tan NB, et al. Among authors: stapleton r. Mol Genet Genomic Med. 2020 Nov;8(11):e1508. doi: 10.1002/mgg3.1508. Epub 2020 Sep 23. Mol Genet Genomic Med. 2020. PMID: 32969205 Free PMC article. Review.
Area deprivation index, a marker of socioeconomic disadvantage, may predict severity of COVID-19 in patients and which families may experience worse symptoms of PTSD, anxiety, and depression post-ICU.
Mayer M, Althoff M, Csikesz N, Yu S, Cruse H, Stapleton R, Amass T. Mayer M, et al. Among authors: stapleton r. J Anesth Analg Crit Care. 2024 Sep 19;4(1):65. doi: 10.1186/s44158-024-00198-8. J Anesth Analg Crit Care. 2024. PMID: 39300496 Free PMC article.
143 results