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Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development.
van den Bergen JA, Robevska G, Eggers S, Riedl S, Grover SR, Bergman PB, Kimber C, Jiwane A, Khan S, Krausz C, Raza J, Atta I, Davis SR, Ono M, Harley V, Faradz SMH, Sinclair AH, Ayers KL. van den Bergen JA, et al. Among authors: faradz smh. Mol Genet Genomic Med. 2020 Mar;8(3):e1095. doi: 10.1002/mgg3.1095. Epub 2020 Jan 21. Mol Genet Genomic Med. 2020. PMID: 31962012 Free PMC article.
Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from Indonesia.
Juniarto AZ, van der Zwan YG, Santosa A, Ariani MD, Eggers S, Hersmus R, Themmen AP, Bruggenwirth HT, Wolffenbuttel KP, Sinclair A, White SJ, Looijenga LH, de Jong FH, Faradz SM, Drop SL. Juniarto AZ, et al. Clin Endocrinol (Oxf). 2016 Aug;85(2):247-57. doi: 10.1111/cen.13051. Epub 2016 Apr 4. Clin Endocrinol (Oxf). 2016. PMID: 26935236
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
Eggers S, Sadedin S, van den Bergen JA, Robevska G, Ohnesorg T, Hewitt J, Lambeth L, Bouty A, Knarston IM, Tan TY, Cameron F, Werther G, Hutson J, O'Connell M, Grover SR, Heloury Y, Zacharin M, Bergman P, Kimber C, Brown J, Webb N, Hunter MF, Srinivasan S, Titmuss A, Verge CF, Mowat D, Smith G, Smith J, Ewans L, Shalhoub C, Crock P, Cowell C, Leong GM, Ono M, Lafferty AR, Huynh T, Visser U, Choong CS, McKenzie F, Pachter N, Thompson EM, Couper J, Baxendale A, Gecz J, Wheeler BJ, Jefferies C, MacKenzie K, Hofman P, Carter P, King RI, Krausz C, van Ravenswaaij-Arts CM, Looijenga L, Drop S, Riedl S, Cools M, Dawson A, Juniarto AZ, Khadilkar V, Khadilkar A, Bhatia V, Dũng VC, Atta I, Raza J, Thi Diem Chi N, Hao TK, Harley V, Koopman P, Warne G, Faradz S, Oshlack A, Ayers KL, Sinclair AH. Eggers S, et al. Genome Biol. 2016 Nov 29;17(1):243. doi: 10.1186/s13059-016-1105-y. Genome Biol. 2016. PMID: 27899157 Free PMC article.
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. 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 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. Among authors: faradz smh. 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.
87 results