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The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective.
Eratne D, Schneider A, Lynch E, Martyn M, Velakoulis D, Fahey M, Kwan P, Leventer R, Rafehi H, Chong B, Stark Z, Lunke S, Phelan DG, O'Keefe M, Siemering K, West K, Sexton A, Jarmolowicz A, Taylor JA, Schultz J, Purvis R, Uebergang E, Chalinor H, Creighton B, Gelfand N, Saks T, Prawer Y, Smagarinsky Y, Pan T, Goranitis I, Ademi Z, Gaff C, Huq A, Walsh M, James PA, Krzesinski EI, Wallis M, Stutterd CA, Bahlo M, Delatycki MB, Berkovic SF. Eratne D, et al. Among authors: west k. J Neurol Sci. 2021 Jan 15;420:117260. doi: 10.1016/j.jns.2020.117260. Epub 2020 Dec 3. J Neurol Sci. 2021. PMID: 33310205
Clinical impact of whole-genome sequencing in patients with early-onset dementia.
Huq AJ, Thompson B, Bennett MF, Bournazos A, Bommireddipalli S, Gorelik A, Schultz J, Sexton A, Purvis R, West K, Cotter M, Valente G, Hughes A, Riaz M, Walsh M, Farrand S, Loi SM, Kilpatrick T, Brodtmann A, Darby D, Eratne D, Walterfang M, Delatycki MB, Storey E, Fahey M, Cooper S, Lacaze P, Masters CL, Velakoulis D, Bahlo M, James PA, Winship I. Huq AJ, et al. Among authors: west k. J Neurol Neurosurg Psychiatry. 2022 Jul 29:jnnp-2021-328146. doi: 10.1136/jnnp-2021-328146. Online ahead of print. J Neurol Neurosurg Psychiatry. 2022. PMID: 35906014
Genetic Counseling in the Era of Genomics: What's all the Fuss about?
Brett GR, Wilkins EJ, Creed ET, West K, Jarmolowicz A, Valente GM, Prawer Y, Lynch E, Macciocca I. Brett GR, et al. Among authors: west k. J Genet Couns. 2018 Sep;27(5):1010-1021. doi: 10.1007/s10897-018-0216-x. Epub 2018 Jan 24. J Genet Couns. 2018. PMID: 29368275
Clinical impact of genomic testing in patients with suspected monogenic kidney disease.
Jayasinghe K, Stark Z, Kerr PG, Gaff C, Martyn M, Whitlam J, Creighton B, Donaldson E, Hunter M, Jarmolowicz A, Johnstone L, Krzesinski E, Lunke S, Lynch E, Nicholls K, Patel C, Prawer Y, Ryan J, See EJ, Talbot A, Trainer A, Tytherleigh R, Valente G, Wallis M, Wardrop L, West KH, White SM, Wilkins E, Mallett AJ, Quinlan C. Jayasinghe K, et al. Among authors: west kh. Genet Med. 2021 Jan;23(1):183-191. doi: 10.1038/s41436-020-00963-4. Epub 2020 Sep 17. Genet Med. 2021. PMID: 32939031 Free PMC article.
"Endless opportunities": A qualitative exploration of facilitators and barriers to scale-up of two-way texting follow-up after voluntary medical male circumcision in Zimbabwe.
Elkins C, Kokera S, Vumbugwa P, Gavhera J, West KM, Wilson K, Makunike-Chikwinya B, Masimba L, Holec M, Barnhart S, Matinu S, Wassuna B, Feldacker C. Elkins C, et al. Among authors: west km. PLoS One. 2024 May 10;19(5):e0296570. doi: 10.1371/journal.pone.0296570. eCollection 2024. PLoS One. 2024. PMID: 38728277 Free PMC article.
1,928 results