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Page 1
Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development.
Robevska G, van den Bergen JA, Ohnesorg T, Eggers S, Hanna C, Hersmus R, Thompson EM, Baxendale A, Verge CF, Lafferty AR, Marzuki NS, Santosa A, Listyasari NA, Riedl S, Warne G, Looijenga L, Faradz S, Ayers KL, Sinclair AH. Robevska G, et al. Among authors: listyasari na. Hum Mutat. 2018 Jan;39(1):124-139. doi: 10.1002/humu.23354. Epub 2017 Nov 2. Hum Mutat. 2018. PMID: 29027299 Free PMC article.
Functional Characterization of Two New Variants in the Bone Morphogenetic Protein 7 Prodomain in Two Pairs of Monozygotic Twins With Hypospadias.
Bouty A, Walton K, Listyasari NA, Robevska G, Van den Bergen J, Santosa A, Faradz SMH, Harrison C, Ayers KL, Sinclair AH. Bouty A, et al. Among authors: listyasari na. J Endocr Soc. 2019 Feb 22;3(4):814-824. doi: 10.1210/js.2018-00333. eCollection 2019 Apr 1. J Endocr Soc. 2019. PMID: 30963139 Free PMC article.
Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46,XY differences of sex development.
Ayers K, van den Bergen J, Robevska G, Listyasari N, Raza J, Atta I, Riedl S, Rothacker K, Choong C, Faradz SMH, Sinclair A. Ayers K, et al. J Med Genet. 2019 Jul;56(7):434-443. doi: 10.1136/jmedgenet-2018-105893. Epub 2019 Apr 24. J Med Genet. 2019. PMID: 31018998 Free PMC article.
New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing.
Jaillard S, Bell K, Akloul L, Walton K, McElreavy K, Stocker WA, Beaumont M, Harrisson C, Jääskeläinen T, Palvimo JJ, Robevska G, Launay E, Satié AP, Listyasari N, Bendavid C, Sreenivasan R, Duros S, van den Bergen J, Henry C, Domin-Bernhard M, Cornevin L, Dejucq-Rainsford N, Belaud-Rotureau MA, Odent S, Ayers KL, Ravel C, Tucker EJ, Sinclair AH. Jaillard S, et al. Maturitas. 2020 Nov;141:9-19. doi: 10.1016/j.maturitas.2020.06.004. Epub 2020 Jun 20. Maturitas. 2020. PMID: 33036707 Free article.
Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes.
Tucker EJ, Bell KM, Robevska G, van den Bergen J, Ayers KL, Listyasari N, Faradz SM, Dulon J, Bakhshalizadeh S, Sreenivasan R, Nouyou B, Carre W, Akloul L, Duros S, Domin-Bernhard M, Belaud-Rotureau MA, Touraine P, Jaillard S, Sinclair AH. Tucker EJ, et al. Eur J Hum Genet. 2022 Feb;30(2):219-228. doi: 10.1038/s41431-021-00977-9. Epub 2021 Oct 28. Eur J Hum Genet. 2022. PMID: 34707299 Free PMC article.
Ten years of in vitro fertilization in Indonesia: Access to infertility care in a developing country.
Wiweko B, Mansyur E, Yuningsih T, Sini I, Silvana V, Maidarti M, Harzif AK, Pratama G, Sumapraja K, Muharam R, Hestiantoro A, Soebijanto S, Listyasari NA, Sirait B, Hendarto H, Djuwantono T, Halim B, Angsar I, Abdullah N, Adnyana P, Widad S, Samsulhadi S, Hidayat ST, Bayuaji H, Permadi W, Hendry D, Lubis S, Iffanolida PA, Mutia K, Septyani T, Siregar FA, Khairani N, Jovito A, Hayatunnufus Y, Cahya NP, Yulinda D, Susanto S, Azzahra TB. Wiweko B, et al. Among authors: listyasari na. Int J Gynaecol Obstet. 2024 Jun;165(3):1144-1150. doi: 10.1002/ijgo.15322. Epub 2024 Jan 8. Int J Gynaecol Obstet. 2024. PMID: 38189172