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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

235 related articles for article (PubMed ID: 30096381)

  • 1. Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants.
    DiStefano MT; Hemphill SE; Cushman BJ; Bowser MJ; Hynes E; Grant AR; Siegert RK; Oza AM; Gonzalez MA; Amr SS; Rehm HL; Abou Tayoun AN
    J Mol Diagn; 2018 Nov; 20(6):789-801. PubMed ID: 30096381
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Transcript expression-aware annotation improves rare variant interpretation.
    Cummings BB; Karczewski KJ; Kosmicki JA; Seaby EG; Watts NA; Singer-Berk M; Mudge JM; Karjalainen J; Satterstrom FK; O'Donnell-Luria AH; Poterba T; Seed C; Solomonson M; Alföldi J; ; ; Daly MJ; MacArthur DG
    Nature; 2020 May; 581(7809):452-458. PubMed ID: 32461655
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.
    Fraile-Bethencourt E; Díez-Gómez B; Velásquez-Zapata V; Acedo A; Sanz DJ; Velasco EA
    PLoS Genet; 2017 Mar; 13(3):e1006691. PubMed ID: 28339459
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Expression of alternatively spliced estrogen receptor alpha mRNAs is increased in breast cancer tissues.
    Poola I; Speirs V
    J Steroid Biochem Mol Biol; 2001 Nov; 78(5):459-69. PubMed ID: 11738556
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical interpretation and implications of whole-genome sequencing.
    Dewey FE; Grove ME; Pan C; Goldstein BA; Bernstein JA; Chaib H; Merker JD; Goldfeder RL; Enns GM; David SP; Pakdaman N; Ormond KE; Caleshu C; Kingham K; Klein TE; Whirl-Carrillo M; Sakamoto K; Wheeler MT; Butte AJ; Ford JM; Boxer L; Ioannidis JP; Yeung AC; Altman RB; Assimes TL; Snyder M; Ashley EA; Quertermous T
    JAMA; 2014 Mar; 311(10):1035-45. PubMed ID: 24618965
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Identification of human-specific transcript variants induced by DNA insertions in the human genome.
    Kim DS; Hahn Y
    Bioinformatics; 2011 Jan; 27(1):14-21. PubMed ID: 21037245
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Abundance of clinical variants in exons included in multiple transcripts.
    Subramanian S
    Hum Genomics; 2018 Jun; 12(1):33. PubMed ID: 29954439
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Major Causes of Conflicting Interpretations of Variant Pathogenicity in Rare Disease: A Systematic Analysis.
    Lazareva TE; Barbitoff YA; Nasykhova YA; Glotov AS
    J Pers Med; 2024 Aug; 14(8):. PubMed ID: 39202055
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Knowledge-based reconstruction of mRNA transcripts with short sequencing reads for transcriptome research.
    Seok J; Xu W; Jiang H; Davis RW; Xiao W
    PLoS One; 2012; 7(2):e31440. PubMed ID: 22312447
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Rat growth hormone receptor/growth hormone-binding protein mRNAs with divergent 5'-untranslated regions are expressed in a tissue-specific manner.
    Domené HM; Cassorla F; Werner H; Roberts CT; Leroith D
    DNA Cell Biol; 1995 Mar; 14(3):195-204. PubMed ID: 7880440
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Djinn Lite: a tool for customised gene transcript modelling, annotation-data enrichment and exploration.
    Teber ET; Crawford E; Bolton KB; Van Dyk D; Schofield PR; Kapoor V; Church WB
    BMC Bioinformatics; 2006 Jan; 7():33. PubMed ID: 16426464
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Genomic organization and alternative transcripts of the human Connexin40 gene.
    Dupays L; Mazurais D; Rücker-Martin C; Calmels T; Bernot D; Cronier L; Malassiné A; Gros D; Théveniau-Ruissy M
    Gene; 2003 Feb; 305(1):79-90. PubMed ID: 12594044
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data.
    Singer-Berk M; Gudmundsson S; Baxter S; Seaby EG; England E; Wood JC; Son RG; Watts NA; Karczewski KJ; Harrison SM; MacArthur DG; Rehm HL; O'Donnell-Luria A
    Am J Hum Genet; 2023 Sep; 110(9):1496-1508. PubMed ID: 37633279
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans.
    Mutai H; Wasano K; Momozawa Y; Kamatani Y; Miya F; Masuda S; Morimoto N; Nara K; Takahashi S; Tsunoda T; Homma K; Kubo M; Matsunaga T
    PLoS Genet; 2020 Apr; 16(4):e1008643. PubMed ID: 32294086
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Alternatively spliced variants of gamma-subunit of muscle-type acetylcholine receptor in fetal and adult skeletal muscle of mouse.
    Azim S; Banday AR; Sarwar T; Tabish M
    Cell Mol Neurobiol; 2012 Aug; 32(6):957-63. PubMed ID: 22488527
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of Novel C-Terminally Truncated Estrogen Receptor β Variant Transcripts and Their Distribution in Humans.
    Ishii H; Hattori Y; Ozawa H
    J Nippon Med Sch; 2021 Mar; 88(1):54-62. PubMed ID: 32238740
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Cryptic splice site activation during RNA processing of MLL/AF4 chimeric transcripts in infants with t(4;11) positive ALL.
    Divoky V; Trka JM; Watzinger F; Lion T
    Gene; 2000 Apr; 247(1-2):111-8. PubMed ID: 10773450
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Middle Eastern Genetic Variation Improves Clinical Annotation of the Human Genome.
    Ramaswamy S; Jain R; El Naofal M; Halabi N; Yaslam S; Taylor A; Tayoun AA
    J Pers Med; 2022 Mar; 12(3):. PubMed ID: 35330423
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Verifying expressed transcript variants by detecting and assembling stretches of consecutive exons.
    Hsiao TH; Lin CH; Lee TT; Cheng JY; Wei PK; Chuang EY; Peck K
    Nucleic Acids Res; 2010 Nov; 38(20):e187. PubMed ID: 20798177
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Schizophrenia risk variants influence multiple classes of transcripts of sorting nexin 19 (SNX19).
    Ma L; Semick SA; Chen Q; Li C; Tao R; Price AJ; Shin JH; Jia Y; ; Brandon NJ; Cross AJ; Hyde TM; Kleinman JE; Jaffe AE; Weinberger DR; Straub RE
    Mol Psychiatry; 2020 Apr; 25(4):831-843. PubMed ID: 30635639
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.