These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
11. Detection of copy number variations in epilepsy using exome data. Tsuchida N; Nakashima M; Kato M; Heyman E; Inui T; Haginoya K; Watanabe S; Chiyonobu T; Morimoto M; Ohta M; Kumakura A; Kubota M; Kumagai Y; Hamano SI; Lourenco CM; Yahaya NA; Ch'ng GS; Ngu LH; Fattal-Valevski A; Weisz Hubshman M; Orenstein N; Marom D; Cohen L; Goldberg-Stern H; Uchiyama Y; Imagawa E; Mizuguchi T; Takata A; Miyake N; Nakajima H; Saitsu H; Miyatake S; Matsumoto N Clin Genet; 2018 Mar; 93(3):577-587. PubMed ID: 28940419 [TBL] [Abstract][Full Text] [Related]
12. Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases. Dharmadhikari AV; Ghosh R; Yuan B; Liu P; Dai H; Al Masri S; Scull J; Posey JE; Jiang AH; He W; Vetrini F; Braxton AA; Ward P; Chiang T; Qu C; Gu S; Shaw CA; Smith JL; Lalani S; Stankiewicz P; Cheung SW; Bacino CA; Patel A; Breman AM; Wang X; Meng L; Xiao R; Xia F; Muzny D; Gibbs RA; Beaudet AL; Eng CM; Lupski JR; Yang Y; Bi W Genome Med; 2019 May; 11(1):30. PubMed ID: 31101064 [TBL] [Abstract][Full Text] [Related]
13. Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases. Salfati EL; Spencer EG; Topol SE; Muse ED; Rueda M; Lucas JR; Wagner GN; Campman S; Topol EJ; Torkamani A Genome Med; 2019 Dec; 11(1):83. PubMed ID: 31847883 [TBL] [Abstract][Full Text] [Related]
14. Diagnostic utility of transcriptome sequencing for rare Mendelian diseases. Lee H; Huang AY; Wang LK; Yoon AJ; Renteria G; Eskin A; Signer RH; Dorrani N; Nieves-Rodriguez S; Wan J; Douine ED; Woods JD; Dell'Angelica EC; Fogel BL; Martin MG; Butte MJ; Parker NH; Wang RT; Shieh PB; Wong DA; Gallant N; Singh KE; Tavyev Asher YJ; Sinsheimer JS; Krakow D; Loo SK; Allard P; Papp JC; ; Palmer CGS; Martinez-Agosto JA; Nelson SF Genet Med; 2020 Mar; 22(3):490-499. PubMed ID: 31607746 [TBL] [Abstract][Full Text] [Related]
15. Utility of trio-based prenatal exome sequencing incorporating splice-site and mitochondrial genome assessment in pregnancies with fetal ultrasound anomalies: prospective cohort study. Zhu X; Gao Z; Wang Y; Huang W; Li Q; Jiao Z; Liu N; Kong X Ultrasound Obstet Gynecol; 2022 Dec; 60(6):780-792. PubMed ID: 35726512 [TBL] [Abstract][Full Text] [Related]
16. 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]
17. Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH. Vetro A; Goidin D; Lesende I; Limongelli I; Ranzani GN; Novara F; Bonaglia MC; Rinaldi B; Franchi F; Manolakos E; Lonardo F; Scarano F; Scarano G; Costantino L; Tedeschi S; Giglio S; Zuffardi O Clin Genet; 2018 Mar; 93(3):545-556. PubMed ID: 28556904 [TBL] [Abstract][Full Text] [Related]
18. Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review. Tan NB; Stapleton R; Stark Z; Delatycki MB; Yeung A; Hunter MF; Amor DJ; Brown NJ; Stutterd CA; McGillivray G; Yap P; Regan M; Chong B; Fanjul Fernandez M; Marum J; Phelan D; Pais LS; White SM; Lunke S; Tan TY Mol Genet Genomic Med; 2020 Nov; 8(11):e1508. PubMed ID: 32969205 [TBL] [Abstract][Full Text] [Related]
19. A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing. Zastrow DB; Kohler JN; Bonner D; Reuter CM; Fernandez L; Grove ME; Fisk DG; ; Yang Y; Eng CM; Ward PA; Bick D; Worthey EA; Fisher PG; Ashley EA; Bernstein JA; Wheeler MT J Genet Couns; 2019 Apr; 28(2):213-228. PubMed ID: 30964584 [TBL] [Abstract][Full Text] [Related]
20. Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases. Tran Mau-Them F; Duffourd Y; Vitobello A; Bruel AL; Denommé-Pichon AS; Nambot S; Delanne J; Moutton S; Sorlin A; ; Couturier V; Bourgeois V; Chevarin M; Poe C; Mosca-Boidron AL; Callier P; Safraou H; Faivre L; Philippe C; Thauvin-Robinet C Mol Genet Genomic Med; 2021 Dec; 9(12):e1836. PubMed ID: 34716697 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]