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Year Number of Results
2015 2
2016 3
2017 2
2018 3
2019 3
2020 1
2021 2
2022 3
2023 2
2024 0

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17 results

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Page 1
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: suntharalingham jp. JCI Insight. 2023 Jul 24;8(14):e168177. doi: 10.1172/jci.insight.168177. JCI Insight. 2023. PMID: 37440461 Free PMC article.
Analysis of genetic variability in Turner syndrome linked to long-term clinical features.
Suntharalingham JP, Ishida M, Cameron-Pimblett A, McGlacken-Byrne SM, Buonocore F, Del Valle I, Madhan GK, Brooks T, Conway GS, Achermann JC. Suntharalingham JP, et al. Front Endocrinol (Lausanne). 2023 Sep 20;14:1227164. doi: 10.3389/fendo.2023.1227164. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37800145 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. F1000Res. 2019 Jan 23;8:90. doi: 10.12688/f1000research.15016.2. eCollection 2019. F1000Res. 2019. PMID: 31497289 Free PMC article. Review.
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. 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.
DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease.
Suntharalingham JP, Buonocore F, Duncan AJ, Achermann JC. Suntharalingham JP, et al. Best Pract Res Clin Endocrinol Metab. 2015 Aug;29(4):607-19. doi: 10.1016/j.beem.2015.07.004. Epub 2015 Jul 14. Best Pract Res Clin Endocrinol Metab. 2015. PMID: 26303087 Free PMC article. Review.
Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency.
Akin L, Rizzoti K, Gregory LC, Corredor B, Le Quesne Stabej P, Williams H, Buonocore F, Mouilleron S, Capra V, McGlacken-Byrne SM, Martos-Moreno GÁ, Azmanov DN, Kendirci M, Kurtoglu S, Suntharalingham JP, Galichet C, Gustincich S, Tasic V, Achermann JC, Accogli A, Filipovska A, Tuilpakov A, Maghnie M, Gucev Z, Gonen ZB, Pérez-Jurado LA, Robinson I, Lovell-Badge R, Argente J, Dattani MT. Akin L, et al. Among authors: suntharalingham jp. Genet Med. 2022 Feb;24(2):384-397. doi: 10.1016/j.gim.2021.09.019. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906446 Free PMC article.
Defective Vagal Innervation in Murine Tbx1 Mutant Hearts.
Calmont A, Anderson N, Suntharalingham JP, Ang R, Tinker A, Scambler PJ. Calmont A, et al. Among authors: suntharalingham jp. J Cardiovasc Dev Dis. 2018 Sep 23;5(4):49. doi: 10.3390/jcdd5040049. J Cardiovasc Dev Dis. 2018. PMID: 30249045 Free PMC article.
Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency.
McGlacken-Byrne SM, Del Valle I, Quesne Stabej PL, Bellutti L, Garcia-Alonso L, Ocaka LA, Ishida M, Suntharalingham JP, Gagunashvili A, Ogunbiyi OK, Mistry T, Buonocore F; GOSgene; Crespo B, Moreno N, Niola P, Brooks T, Brain CE, Dattani MT, Kelberman D, Vento-Tormo R, Lagos CF, Livera G, Conway GS, Achermann JC. McGlacken-Byrne SM, et al. Among authors: suntharalingham jp. JCI Insight. 2022 Mar 8;7(5):e154671. doi: 10.1172/jci.insight.154671. JCI Insight. 2022. PMID: 35138268 Free PMC article.
Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans.
Buonocore F, Kühnen P, Suntharalingham JP, Del Valle I, Digweed M, Stachelscheid H, Khajavi N, Didi M, Brady AF, Blankenstein O, Procter AM, Dimitri P, Wales JKH, Ghirri P, Knöbl D, Strahm B, Erlacher M, Wlodarski MW, Chen W, Kokai GK, Anderson G, Morrogh D, Moulding DA, McKee SA, Niemeyer CM, Grüters A, Achermann JC. Buonocore F, et al. Among authors: suntharalingham jp. J Clin Invest. 2017 May 1;127(5):1700-1713. doi: 10.1172/JCI91913. Epub 2017 Mar 27. J Clin Invest. 2017. PMID: 28346228 Free PMC article.
Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.
Buonocore F, Maharaj A, Qamar Y, Koehler K, Suntharalingham JP, Chan LF, Ferraz-de-Souza B, Hughes CR, Lin L, Prasad R, Allgrove J, Andrews ET, Buchanan CR, Cheetham TD, Crowne EC, Davies JH, Gregory JW, Hindmarsh PC, Hulse T, Krone NP, Shah P, Shaikh MG, Roberts C, Clayton PE, Dattani MT, Thomas NS, Huebner A, Clark AJ, Metherell LA, Achermann JC. Buonocore F, et al. Among authors: suntharalingham jp. J Endocr Soc. 2021 May 11;5(8):bvab086. doi: 10.1210/jendso/bvab086. eCollection 2021 Aug 1. J Endocr Soc. 2021. PMID: 34258490 Free PMC article.
17 results