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Page 1
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. Among authors: lafferty ar. Genome Biol. 2016 Nov 29;17(1):243. doi: 10.1186/s13059-016-1105-y. Genome Biol. 2016. PMID: 27899157 Free PMC article.
Increased detection of cystic-fibrosis-related diabetes in Australia.
Rana M, Munns CF, Selvadurai HC, Simonds S, Cooper PJ, Woodhead HJ, Hameed S, Verge CF, Lafferty AR, Crock PA, Craig ME. Rana M, et al. Among authors: lafferty ar. Arch Dis Child. 2011 Sep;96(9):823-6. doi: 10.1136/adc.2010.208652. Epub 2011 Jun 8. Arch Dis Child. 2011. PMID: 21653750
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: lafferty ar. 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.
Consensus guidelines on the use of bisphosphonate therapy in children and adolescents.
Simm PJ, Biggin A, Zacharin MR, Rodda CP, Tham E, Siafarikas A, Jefferies C, Hofman PL, Jensen DE, Woodhead H, Brown J, Wheeler BJ, Brookes D, Lafferty A, Munns CF; APEG Bone Mineral Working Group. Simm PJ, et al. J Paediatr Child Health. 2018 Mar;54(3):223-233. doi: 10.1111/jpc.13768. J Paediatr Child Health. 2018. PMID: 29504223
Requirements for improving health and well-being of children with Prader-Willi syndrome and their families.
Mackay J, McCallum Z, Ambler GR, Vora K, Nixon G, Bergman P, Shields N, Milner K, Kapur N, Crock P, Caudri D, Curran J, Verge C, Seton C, Tai A, Tham E, Musthaffa Y, Lafferty AR, Blecher G, Harper J, Schofield C, Nielsen A, Wilson A, Leonard H, Choong CS, Downs J. Mackay J, et al. Among authors: lafferty ar. J Paediatr Child Health. 2019 Sep;55(9):1029-1037. doi: 10.1111/jpc.14546. Epub 2019 Jun 30. J Paediatr Child Health. 2019. PMID: 31257692 Free PMC article. Review.
Global consensus on nutritional rickets: Implications for Australia.
Siafarikas A, Simm P, Zacharin M, Jefferies C, Lafferty AR, Wheeler BJ, Tham E, Brown J, Biggin A, Hofman P, Woodhead H, Rodda C, Jensen D, Brookes D, Munns CF; APEG Bone and Mineral Working Group. Siafarikas A, et al. Among authors: lafferty ar. J Paediatr Child Health. 2020 Jun;56(6):841-846. doi: 10.1111/jpc.14941. J Paediatr Child Health. 2020. PMID: 32567782
Sleep-disordered breathing in Australian children with Prader-Willi syndrome following initiation of growth hormone therapy.
Caudri D, Nixon GM, Nielsen A, Mai L, Hafekost CR, Kapur N, Seton C, Tai A, Blecher G, Ambler G, Bergman PB, Vora KA, Crock P, Verge CF, Tham E, Musthaffa Y, Lafferty AR, Jacoby P, Wilson AC, Downs J, Choong CS. Caudri D, et al. Among authors: lafferty ar. J Paediatr Child Health. 2022 Feb;58(2):248-255. doi: 10.1111/jpc.15691. Epub 2021 Aug 16. J Paediatr Child Health. 2022. PMID: 34397126 Free PMC article.
Associations Between Hyperphagia, Symptoms of Sleep Breathing Disorder, Behaviour Difficulties and Caregiver Well-Being in Prader-Willi Syndrome: A Preliminary Study.
Mackay J, Nixon GM, Lafferty AR, Ambler G, Kapur N, Bergman PB, Schofield C, Seton C, Tai A, Tham E, Vora K, Crock P, Verge C, Musthaffa Y, Blecher G, Caudri D, Leonard H, Jacoby P, Wilson A, Choong CS, Downs J. Mackay J, et al. Among authors: lafferty ar. J Autism Dev Disord. 2022 Sep;52(9):3877-3889. doi: 10.1007/s10803-021-05265-5. Epub 2021 Sep 8. J Autism Dev Disord. 2022. PMID: 34498151
38 results