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Page 1
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Genet Med. 2022 Jan;24(1):130-145. doi: 10.1016/j.gim.2021.09.001. Epub 2021 Nov 30.
Genet Med. 2022.
PMID: 34906502
Free article.
Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy.
Farrar MA, Kariyawasam D, Grattan S, Bayley K, Davis M, Holland S, Waddel LB, Jones K, Lorentzos M, Ravine A, Wotton T, Wiley V; DMD NBS Working Group.
Farrar MA, et al. Among authors: ravine a.
J Neuromuscul Dis. 2023;10(1):15-28. doi: 10.3233/JND-221535.
J Neuromuscul Dis. 2023.
PMID: 36373292
Free PMC article.
Review.
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RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.
Palmer EE, Carroll R, Shaw M, Kumar R, Minoche AE, Leffler M, Murray L, Macintosh R, Wright D, Troedson C, McKenzie F, Townshend S, Ward M, Nawaz U, Ravine A, Runke CK, Thorland EC, Hummel M, Foulds N, Pichon O, Isidor B, Le Caignec C, Demeer B, Andrieux J, Albarazi SH, Bye A, Sachdev R, Kirk EP, Cowley MJ, Field M, Gecz J.
Palmer EE, et al. Among authors: ravine a.
Am J Hum Genet. 2020 Dec 3;107(6):1157-1169. doi: 10.1016/j.ajhg.2020.10.005. Epub 2020 Nov 6.
Am J Hum Genet. 2020.
PMID: 33159883
Free PMC article.
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Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission").
Kirk EP, Ong R, Boggs K, Hardy T, Righetti S, Kamien B, Roscioli T, Amor DJ, Bakshi M, Chung CWT, Colley A, Jamieson RV, Liebelt J, Ma A, Pachter N, Rajagopalan S, Ravine A, Wilson M, Caruana J, Casella R, Davis M, Edwards S, Archibald A, McGaughran J, Newson AJ, Laing NG, Delatycki MB.
Kirk EP, et al. Among authors: ravine a.
Eur J Hum Genet. 2021 Jan;29(1):79-87. doi: 10.1038/s41431-020-0685-x. Epub 2020 Jul 16.
Eur J Hum Genet. 2021.
PMID: 32678339
Free PMC article.
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Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.
Tudini E, Andrews J, Lawrence DM, King-Smith SL, Baker N, Baxter L, Beilby J, Bennetts B, Beshay V, Black M, Boughtwood TF, Brion K, Cheong PL, Christie M, Christodoulou J, Chong B, Cox K, Davis MR, Dejong L, Dinger ME, Doig KD, Douglas E, Dubowsky A, Ellul M, Fellowes A, Fisk K, Fortuno C, Friend K, Gallagher RL, Gao S, Hackett E, Hadler J, Hipwell M, Ho G, Hollway G, Hooper AJ, Kassahn KS, Krishnaraj R, Lau C, Le H, San Leong H, Lundie B, Lunke S, Marty A, McPhillips M, Nguyen LT, Nones K, Palmer K, Pearson JV, Quinn MCJ, Rawlings LH, Sadedin S, Sanchez L, Schreiber AW, Sigalas E, Simsek A, Soubrier J, Stark Z, Thompson BA, U J, Vakulin CG, Wells AV, Wise CA, Woods R, Ziolkowski A, Brion MJ, Scott HS, Thorne NP, Spurdle AB; Shariant Consortium.
Tudini E, et al.
Am J Hum Genet. 2022 Nov 3;109(11):1960-1973. doi: 10.1016/j.ajhg.2022.10.006.
Am J Hum Genet. 2022.
PMID: 36332611
Free PMC article.
Review.
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Integrating newborn screening for spinal muscular atrophy into health care systems: an Australian pilot programme.
D'Silva AM, Kariyawasam DST, Best S, Wiley V, Farrar MA; NSW SMA NBS Study Group.
D'Silva AM, et al.
Dev Med Child Neurol. 2022 May;64(5):625-632. doi: 10.1111/dmcn.15117. Epub 2021 Nov 28.
Dev Med Child Neurol. 2022.
PMID: 34839535
Free PMC article.
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Genotyping in patients with congenital adrenal hyperplasia by sequencing of newborn bloodspot samples.
Ludwig K, Lai F, Wiley V, Ravine A, Srinivasan S.
Ludwig K, et al. Among authors: ravine a.
J Pediatr Endocrinol Metab. 2023 Sep 21;36(10):966-973. doi: 10.1515/jpem-2023-0044. Print 2023 Oct 26.
J Pediatr Endocrinol Metab. 2023.
PMID: 37728028
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