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Tumor to normal single-cell mRNA comparisons reveal a pan-neuroblastoma cancer cell.
Kildisiute G, Kholosy WM, Young MD, Roberts K, Elmentaite R, van Hooff SR, Pacyna CN, Khabirova E, Piapi A, Thevanesan C, Bugallo-Blanco E, Burke C, Mamanova L, Keller KM, Langenberg-Ververgaert KPS, Lijnzaad P, Margaritis T, Holstege FCP, Tas ML, Wijnen MHWA, van Noesel MM, Del Valle I, Barone G, van der Linden R, Duncan C, Anderson J, Achermann JC, Haniffa M, Teichmann SA, Rampling D, Sebire NJ, He X, de Krijger RR, Barker RA, Meyer KB, Bayraktar O, Straathof K, Molenaar JJ, Behjati S. Kildisiute G, et al. Among authors: achermann jc. Sci Adv. 2021 Feb 5;7(6):eabd3311. doi: 10.1126/sciadv.abd3311. Print 2021 Feb. Sci Adv. 2021. PMID: 33547074 Free PMC article.
Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.
Lin L, Philibert P, Ferraz-de-Souza B, Kelberman D, Homfray T, Albanese A, Molini V, Sebire NJ, Einaudi S, Conway GS, Hughes IA, Jameson JL, Sultan C, Dattani MT, Achermann JC. Lin L, et al. Among authors: achermann jc. J Clin Endocrinol Metab. 2007 Mar;92(3):991-9. doi: 10.1210/jc.2006-1672. Epub 2007 Jan 2. J Clin Endocrinol Metab. 2007. PMID: 17200175 Free PMC article.
A genomic atlas of human adrenal and gonad development.
Del Valle I, Buonocore F, Duncan AJ, Lin L, Barenco M, Parnaik R, Shah S, Hubank M, Gerrelli D, Achermann JC. Del Valle I, et al. Among authors: achermann jc. Wellcome Open Res. 2017 Apr 7;2:25. doi: 10.12688/wellcomeopenres.11253.2. Wellcome Open Res. 2017. PMID: 28459107 Free PMC article.
Analysis of CDKN1C in fetal growth restriction and pregnancy loss.
Suntharalingham JP, Ishida M, Buonocore F, Del Valle I, Solanky N, Demetriou C, Regan L, Moore GE, Achermann JC. Suntharalingham JP, et al. Among authors: achermann jc. F1000Res. 2019 Jan 23;8:90. doi: 10.12688/f1000research.15016.2. eCollection 2019. F1000Res. 2019. PMID: 31497289 Free PMC article. Review.
Single cell derived mRNA signals across human kidney tumors.
Young MD, Mitchell TJ, Custers L, Margaritis T, Morales-Rodriguez F, Kwakwa K, Khabirova E, Kildisiute G, Oliver TRW, de Krijger RR, van den Heuvel-Eibrink MM, Comitani F, Piapi A, Bugallo-Blanco E, Thevanesan C, Burke C, Prigmore E, Ambridge K, Roberts K, Braga FAV, Coorens THH, Del Valle I, Wilbrey-Clark A, Mamanova L, Stewart GD, Gnanapragasam VJ, Rampling D, Sebire N, Coleman N, Hook L, Warren A, Haniffa M, Kool M, Pfister SM, Achermann JC, He X, Barker RA, Shlien A, Bayraktar OA, Teichmann SA, Holstege FC, Meyer KB, Drost J, Straathof K, Behjati S. Young MD, et al. Among authors: achermann jc. Nat Commun. 2021 Jun 23;12(1):3896. doi: 10.1038/s41467-021-23949-5. Nat Commun. 2021. PMID: 34162837 Free PMC article.
ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency.
McGlacken-Byrne SM, Le Quesne Stabej P, Del Valle I, Ocaka L, Gagunashvili A, Crespo B, Moreno N, James C, Bacchelli C, Dattani MT, Williams HJ, Kelberman D, Achermann JC, Conway GS. McGlacken-Byrne SM, et al. Among authors: achermann jc. J Clin Endocrinol Metab. 2022 Jan 1;107(1):e254-e263. doi: 10.1210/clinem/dgab597. J Clin Endocrinol Metab. 2022. PMID: 34402903 Free PMC article.
Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome.
Suntharalingham JP, Ishida M, Del Valle I, Stalman SE, Solanky N, Wakeling E, Moore GE, Achermann JC, Buonocore F. Suntharalingham JP, et al. Among authors: achermann jc. Front Endocrinol (Lausanne). 2022 Aug 18;13:953707. doi: 10.3389/fendo.2022.953707. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36060959 Free PMC article.
An integrated single-cell analysis of human adrenal cortex development.
Del Valle I, Young MD, Kildisiute G, Ogunbiyi OK, Buonocore F, Simcock IC, Khabirova E, Crespo B, Moreno N, Brooks T, Niola P, Swarbrick K, Suntharalingham JP, McGlacken-Byrne SM, Arthurs OJ, Behjati S, Achermann JC. Del Valle I, et al. Among authors: achermann jc. JCI Insight. 2023 Jul 24;8(14):e168177. doi: 10.1172/jci.insight.168177. JCI Insight. 2023. PMID: 37440461 Free PMC article.
135 results