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6. Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions. Lavelle TA; Feng X; Keisler M; Cohen JT; Neumann PJ; Prichard D; Schroeder BE; Salyakina D; Espinal PS; Weidner SB; Maron JL Genet Med; 2022 Jun; 24(6):1349-1361. PubMed ID: 35396982 [TBL] [Abstract][Full Text] [Related]
7. Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program. Cloney T; Gallacher L; Pais LS; Tan NB; Yeung A; Stark Z; Brown NJ; McGillivray G; Delatycki MB; de Silva MG; Downie L; Stutterd CA; Elliott J; Compton AG; Lovgren A; Oertel R; Francis D; Bell KM; Sadedin S; Lim SC; Helman G; Simons C; Macarthur DG; Thorburn DR; O'Donnell-Luria AH; Christodoulou J; White SM; Tan TY J Med Genet; 2022 Aug; 59(8):748-758. PubMed ID: 34740920 [TBL] [Abstract][Full Text] [Related]
8. Meta-analysis of the diagnostic and clinical utility of exome and genome sequencing in pediatric and adult patients with rare diseases across diverse populations. Chung CCY; Hue SPY; Ng NYT; Doong PHL; ; Chu ATW; Chung BHY Genet Med; 2023 Sep; 25(9):100896. PubMed ID: 37191093 [TBL] [Abstract][Full Text] [Related]
9. 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 J Neurol Sci; 2021 Jan; 420():117260. PubMed ID: 33310205 [TBL] [Abstract][Full Text] [Related]
10. Limitations of exome sequencing in detecting rare and undiagnosed diseases. Burdick KJ; Cogan JD; Rives LC; Robertson AK; Koziura ME; Brokamp E; Duncan L; Hannig V; Pfotenhauer J; Vanzo R; Paul MS; Bican A; Morgan T; Duis J; Newman JH; Hamid R; Phillips JA; Am J Med Genet A; 2020 Jun; 182(6):1400-1406. PubMed ID: 32190976 [TBL] [Abstract][Full Text] [Related]
11. Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders. Marinakis NM; Svingou M; Veltra D; Kekou K; Sofocleous C; Tilemis FN; Kosma K; Tsoutsou E; Fryssira H; Traeger-Synodinos J Am J Med Genet A; 2021 Aug; 185(8):2561-2571. PubMed ID: 34008892 [TBL] [Abstract][Full Text] [Related]
12. Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis. Pucel J; Briere LC; Reuter C; Gochyyev P; ; LeBlanc K Genet Med; 2024 Jun; 26(6):101115. PubMed ID: 38436216 [TBL] [Abstract][Full Text] [Related]
14. Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset. Domogala DD; Gambin T; Zemet R; Wu CW; Schulze KV; Yang Y; Wilson TA; Machol I; Liu P; Stankiewicz P Hum Genomics; 2021 Dec; 15(1):72. PubMed ID: 34930489 [TBL] [Abstract][Full Text] [Related]
15. A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings. Gu F; Wu A; Gordon MG; Vlahos L; Macnamara S; Burke E; Malicdan MC; Adams DR; Tifft CJ; Toro C; Gahl WA; Markello TC Genet Med; 2019 Aug; 21(8):1772-1780. PubMed ID: 30700791 [TBL] [Abstract][Full Text] [Related]
16. An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data. Cipriani V; Pontikos N; Arno G; Sergouniotis PI; Lenassi E; Thawong P; Danis D; Michaelides M; Webster AR; Moore AT; Robinson PN; Jacobsen JOB; Smedley D Genes (Basel); 2020 Apr; 11(4):. PubMed ID: 32340307 [TBL] [Abstract][Full Text] [Related]
17. Developing genome and exome sequencing for candidate gene identification in inherited disorders: an integrated technical and bioinformatics approach. Coonrod EM; Durtschi JD; Margraf RL; Voelkerding KV Arch Pathol Lab Med; 2013 Mar; 137(3):415-33. PubMed ID: 22770468 [TBL] [Abstract][Full Text] [Related]
18. Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders. Ewans LJ; Schofield D; Shrestha R; Zhu Y; Gayevskiy V; Ying K; Walsh C; Lee E; Kirk EP; Colley A; Ellaway C; Turner A; Mowat D; Worgan L; Freckmann ML; Lipke M; Sachdev R; Miller D; Field M; Dinger ME; Buckley MF; Cowley MJ; Roscioli T Genet Med; 2018 Dec; 20(12):1564-1574. PubMed ID: 29595814 [TBL] [Abstract][Full Text] [Related]
19. A community-based resource for automatic exome variant-calling and annotation in Mendelian disorders. Mutarelli M; Marwah V; Rispoli R; Carrella D; Dharmalingam G; Oliva G; di Bernardo D BMC Genomics; 2014; 15 Suppl 3(Suppl 3):S5. PubMed ID: 25078076 [TBL] [Abstract][Full Text] [Related]
20. Update on the use of exome sequencing in the diagnosis of fetal abnormalities. Ferretti L; Mellis R; Chitty LS Eur J Med Genet; 2019 Aug; 62(8):103663. PubMed ID: 31085342 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]