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Predicting regression of cervical intraepithelial neoplasia grade 2 in women under 25 years.
Sykes PH, Simcock BJ, Innes CR, Harker D, Williman JA, Whitehead M, van der Griend RA, Lawton BA, Hibma M, Fitzgerald P, Dudley NM, Petrich S, Eva L, Bergzoll C, Kathuria J, McPherson G, Tristram A, Faherty J, Hardie D, Robertson A, Robertson V, Pather S, Wrede CD, Gastrell F, Fentiman G, John M, White E, Parker C, Sadler L. Sykes PH, et al. Among authors: robertson a, robertson v. Am J Obstet Gynecol. 2022 Feb;226(2):222.e1-222.e13. doi: 10.1016/j.ajog.2021.09.009. Epub 2021 Sep 14. Am J Obstet Gynecol. 2022. PMID: 34534506
Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics services.
Best S, Fehlberg Z, Richards C, Quinn MCJ, Lunke S, Spurdle AB, Kassahn KS, Patel C, Vears DF, Goranitis I, Lynch F, Robertson A, Tudini E, Christodoulou J, Scott H, McGaughran J, Stark Z. Best S, et al. Among authors: robertson a. Eur J Hum Genet. 2024 May 25. doi: 10.1038/s41431-024-01633-8. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38796577
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans.
Rael VE, Yano JA, Huizar JP, Slayden LC, Weiss MA, Turcotte EA, Terry JM, Zuo W, Thiffault I, Pastinen T, Farrow EG, Jenkins JL, Becker ML, Wong SC, Stevens AM, Otten C, Allenspach EJ, Bonner DE, Bernstein JA, Wheeler MT, Saxton RA; Undiagnosed Diseases Network; Liu B, Majer O, Barton GM. Rael VE, et al. J Exp Med. 2024 Aug 5;221(8):e20232005. doi: 10.1084/jem.20232005. Epub 2024 May 23. J Exp Med. 2024. PMID: 38780621 Free PMC article.
Assessment of MR blood-oxygen-level-dependent (BOLD) cerebrovascular reactivity under general anesthesia in children with moyamoya.
Choi EJ, Levin D, Robertson A, Kirkham FJ, Muthusami P, Krishnan P, Shroff M, Moharir M, Dirks P, MacGregor D, Pulcine E, Bhathal I, Kassner A, Walker K, Allan W, deVeber G, Logan WJ, Dlamini N. Choi EJ, et al. Among authors: robertson a. Pediatr Radiol. 2024 May 23. doi: 10.1007/s00247-024-05930-8. Online ahead of print. Pediatr Radiol. 2024. PMID: 38777883
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Kohler JN, Legro NR, Baldridge D, Shin J, Bowman A, Ugur B, Jackstadt MM, Shriver LP, Patti GJ, Zhang B, Feng W, McAdow AR, Goddard P, Ungar RA, Jensen T, Smith KS, Fresard L, Alvarez R, Bonner D, Reuter CM, McCormack C, Kravets E, Marwaha S, Holt JM; Undiagnosed Diseases Network; Worthey E, Ashley EA, Montgomery SB, Fisher P, Postlethwait J, De Camilli P, Solnica-Krezel L, Bernstein JA, Wheeler MT. Kohler JN, et al. Genet Med. 2024 May 16:101166. doi: 10.1016/j.gim.2024.101166. Online ahead of print. Genet Med. 2024. PMID: 38767059
3,242 results