50 Matching Annotations
  1. Apr 2024
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Co-mutations and KRAS G12C inhibitor efficacy in advanced NSCLC
    1
    1. scibot 20 Apr 2024
      RRID:SCR_012813

      DOI: 10.1158/2159-8290.CD-22-1420

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    ncbi.nlm.nih.gov/pmc/articles/PMC11024958/
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A rare inherited homozygous missense variant in PLA2G6 influences susceptibility to infantile neuroaxonal dystrophy: a case report
    1
    1. scibot 10 Apr 2024
      RRID:SCR_012813

      DOI: 10.21037/tp-23-568

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    ncbi.nlm.nih.gov/pmc/articles/PMC10998992/
  4. Mar 2024
  5. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A novel type of monocytic leukemia stem cell revealed by the clinical use of venetoclax-based therapy
    1
    1. scibot 06 Mar 2024
      RRID:SCR_012813

      DOI: 10.1158/2159-8290.CD-22-1297

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    ncbi.nlm.nih.gov/pmc/articles/PMC10527971/
  6. Feb 2024
  7. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mild phenotype of CHAT-associated congenital myasthenic syndrome: case series
    1
    1. scibot 03 Feb 2024
      RRID:SCR_012813

      DOI: 10.3389/fped.2024.1280394

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    ncbi.nlm.nih.gov/pmc/articles/PMC10830679/
  8. Dec 2023
  9. www.sciencedirect.com www.sciencedirect.com
    Integrated multi-omics profiling to dissect the spatiotemporal evolution of metastatic hepatocellular carcinoma
    1
    1. scibot 16 Dec 2023
      RRID:SCR_012813

      DOI: 10.1016/j.ccell.2023.11.010

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    sciencedirect.com/science/article/pii/S1535610823004014
  10. www.sciencedirect.com www.sciencedirect.com
    Clinical phenotype and genetic characteristics of SZT2 related diseases: A case report and literature review
    1
    1. scibot 16 Dec 2023
      RRID:SCR_012813

      DOI: 10.1016/j.seizure.2023.12.008

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    sciencedirect.com/science/article/pii/S1059131123003230
  11. 52.53.155.43 52.53.155.43
    physiolgenomics.00070.2023-html.html
    1
    1. scibot 01 Dec 2023
      RRID: SCR_012813

      DOI: 10.6084/m9.figshare.23598732.v4

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    52.53.155.43/37a553f0bc437dc481c95fcb3601b715ab4e52f5/physiolgenomics.00070.2023-html.html
  12. Oct 2023
  13. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Oncogenic context shapes the fitness landscape of tumor suppression
    1
    1. scibot 18 Oct 2023
      RRID:SCR_012813

      DOI: 10.1038/s41467-023-42156-y

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    ncbi.nlm.nih.gov/pmc/articles/PMC10570323/
  14. Jul 2023
  15. www.sciencedirect.com www.sciencedirect.com
    Loss-of-function variants in KCTD19 cause non-obstructive azoospermia in humans
    1
    1. scibot 15 Jul 2023
      RRID:SCR_012813

      DOI: 10.1016/j.isci.2023.107193

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    sciencedirect.com/science/article/pii/S2589004223012701
  16. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Biallelic variants in MAD2L1BP (p31comet) cause female infertility characterized by oocyte maturation arrest
    1
    1. scibot 06 Jul 2023
      RRID:SCR_012813

      DOI: 10.7554/eLife.85649

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    ncbi.nlm.nih.gov/pmc/articles/PMC10319434/
  17. Jun 2023
  18. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Clinical features and underlying mechanisms of KAT6B disease in a Chinese boy
    1
    1. scibot 10 Jun 2023
      RRID: SCR_012813

      DOI: 10.1002/mgg3.2202

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    onlinelibrary.wiley.com/doi/10.1002/mgg3.2202
  19. May 2023
  20. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    High carrier frequency of pathogenic PATL2 gene mutations predicted in population: a bioinformatics-based approach
    1
    1. scibot 31 May 2023
      RRID:SCR_012813

      DOI: 10.3389/fgene.2023.1097951

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    ncbi.nlm.nih.gov/pmc/articles/PMC10225684/
  21. Feb 2023
  22. onlinelibrary.wiley.com onlinelibrary.wiley.com
    A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS-like alternating hemiplegia
    1
    1. scibot 08 Feb 2023
      RRID:SCR_012813

      DOI: 10.1002/mgg3.2146

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    onlinelibrary.wiley.com/doi/10.1002/mgg3.2146
  23. Nov 2022
  24. www.pnas.org www.pnas.org
    Homologous recombination–deficient mutation cluster in tumor suppressor <i>RAD51C</i> identified by comprehensive analysis of cancer variants
    1
    1. scibot 17 Nov 2022
      RRID:SCR_012813

      DOI: 10.1073/pnas.2202727119

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    pnas.org/doi/abs/10.1073/pnas.2202727119
  25. www.sciencedirect.com www.sciencedirect.com
    Reconstructing mutational lineages in breast cancer by multi-patient-targeted single-cell DNA sequencing
    1
    1. scibot 10 Nov 2022
      RRID:SCR_012813

      DOI: 10.1016/j.xgen.2022.100215

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    sciencedirect.com/science/article/pii/S2666979X22001689
  26. Oct 2022
  27. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2
    1
    1. scibot 26 Oct 2022
      SCR_012813

      DOI: 10.3389/fphar.2022.931089

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    ncbi.nlm.nih.gov/pmc/articles/PMC9579345/
  28. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome
    1
    1. scibot 14 Oct 2022
      RRID:SCR_012813

      DOI: 10.3389/fgene.2022.993064

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    ncbi.nlm.nih.gov/pmc/articles/PMC9554350/
  29. Sep 2022
  30. www.nature.com www.nature.com
    ADGRL3 genomic variation implicated in neurogenesis and ADHD links functional effects to the incretin polypeptide GIP
    1
    1. scibot 24 Sep 2022
      RRID:SCR_012813

      DOI: 10.1038/s41598-022-20343-z

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    nature.com/articles/s41598-022-20343-z
  31. Jun 2022
  32. europepmc.org europepmc.org
    A Role for Gene-Environment Interactions in Autism Spectrum Disorder Is Supported by Variants in Genes Regulating the Effects of Exposure to Xenobiotics
    1
    1. scibot 07 Jun 2022
      RRID:SCR_012813

      DOI: 10.3389/fnins.2022.862315

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    europepmc.org/article/PMC/PMC9161282
  33. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A Role for Gene-Environment Interactions in Autism Spectrum Disorder Is Supported by Variants in Genes Regulating the Effects of Exposure to Xenobiotics
    1
    1. scibot 04 Jun 2022
      RRID:SCR_012813

      DOI: 10.3389/fnins.2022.862315

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    ncbi.nlm.nih.gov/pmc/articles/PMC9161282/
  34. Apr 2022
  35. journals.physiology.org journals.physiology.org
    Whole genome sequencing identifies a deletion mutation in the unknown-functional KCNG2 from familial sick sinus syndrome
    1
    1. scibot 29 Apr 2022
      RRID:SCR_012813

      DOI: 10.1152/physiolgenomics.00132.2021

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    journals.physiology.org/doi/full/10.1152/physiolgenomics.00132.2021
  36. link.springer.com link.springer.com
    Four novel mutations in the androgen receptor gene from Vietnamese patients with androgen insensitivity syndrome
    1
    1. scibot 23 Apr 2022
      RRID:SCR_012813

      DOI: 10.1007/s13258-022-01249-6

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    link.springer.com/article/10.1007/s13258-022-01249-6
  37. link.springer.com link.springer.com
    Growth factor independence underpins a paroxysmal, aggressive Wnt5aHigh/EphA2Low phenotype in glioblastoma stem cells, conducive to experimental combinatorial therapy
    1
    1. scibot 14 Apr 2022
      RRID:SCR_012813

      DOI: 10.1186/s13046-022-02333-1

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    link.springer.com/article/10.1186/s13046-022-02333-1
  38. eje.bioscientifica.com eje.bioscientifica.com
    Prevalence and phenotypic features of diabetes due to recessive, non-syndromic WFS1 mutations
    1
    1. scibot 06 Apr 2022
      RRID:SCR_012813

      DOI: 10.1530/EJE-21-0097

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    eje.bioscientifica.com/view/journals/eje/186/2/EJE-21-0097.xml
  39. Mar 2022
  40. academic.oup.com academic.oup.com
    Contribution of clinical and genetic approaches for diagnosing 209 index cases with 46,XY Differences of Sex Development
    1
    1. scibot 08 Mar 2022
      RRID:SCR_012813

      DOI: 10.1210/clinem/dgac064

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    academic.oup.com/jcem/advance-article/doi/10.1210/clinem/dgac064/6521524
  41. Jan 2022
  42. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families
    1
    1. scibot 22 Jan 2022
      SCR_012813

      DOI: 10.1002/jcla.24241

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    onlinelibrary.wiley.com/doi/full/10.1002/jcla.24241
  43. Dec 2021
  44. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A high-quality genome and comparison of short- versus long-read transcriptome of the palaearctic duck Aythya fuligula (tufted duck)
    1
    1. scibot 23 Dec 2021
      RRID:SCR_012813

      DOI: 10.1093/gigascience/giab081

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      Curator: @evieth

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    ncbi.nlm.nih.gov/pmc/articles/PMC8685854/
  45. Oct 2021
  46. link.springer.com link.springer.com
    Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss
    1
    1. scibot 05 Oct 2021
      RRID:SCR_012813

      DOI: 10.1007/s00439-021-02372-2

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    link.springer.com/article/10.1007/s00439-021-02372-2
  47. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genomic alterations during the in situ to invasive ductal breast carcinoma transition shaped by the immune system
    1
    1. scibot 02 Oct 2021
      RRID:SCR_012813

      DOI: 10.1158/1541-7786.MCR-20-0949

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    ncbi.nlm.nih.gov/pmc/articles/PMC8026652/
  48. Aug 2021
  49. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Gene mutations in a Han Chinese Alzheimer's disease cohort
    1
    1. scibot 11 Aug 2021
      RRID:SCR_012813

      DOI: 10.1002/brb3.1180

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    ncbi.nlm.nih.gov/pmc/articles/PMC6346667/
  50. Jul 2021
  51. onlinelibrary.wiley.com onlinelibrary.wiley.com
    A novel human Cdh1 mutation impairs anaphase promoting complex/cyclosome (APC/C) activity resulting in microcephaly, psychomotor retardation and epilepsy
    1
    1. scibot 29 Jul 2021
      RRID:SCR_012813

      DOI: 10.1111/jnc.14828

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      Curator: @Naa003

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    onlinelibrary.wiley.com/doi/abs/10.1111/jnc.14828
  52. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Functional analysis of novel RUNX2 mutations identified in patients with Cleidocranial dysplasia
    1
    1. scibot 29 Jul 2021
      SIFT

      DOI: 10.1111/cge.13610

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    onlinelibrary.wiley.com/doi/10.1111/cge.13610
  53. academic.oup.com academic.oup.com
    POLR2C Mutations Are Associated With Primary Ovarian Insufficiency in Women
    1
    1. scibot 29 Jul 2021
      SIFT

      DOI: 10.1210/js.2016-1014

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    academic.oup.com/jes/article/1/3/162/3063797
  54. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Untitled document
    1
    1. scibot 29 Jul 2021
      RRID:SCR_012813

      DOI: 10.1002/jcb.27636

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    onlinelibrary.wiley.com/doi/full/10.1002/jcb.27636
  55. www.sciencedirect.com www.sciencedirect.com
    Patient-derived iPSC-cerebral organoid modeling of the 17q11.2 microdeletion syndrome establishes CRLF3 as a critical regulator of neurogenesis
    1
    1. scibot 07 Jul 2021
      RRID:SCR_012813

      DOI: 10.1016/j.celrep.2021.109315

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    sciencedirect.com/science/article/pii/S2211124721006914
  56. May 2021
  57. journals.sagepub.com journals.sagepub.com
    Role of GATA3 exon 6 germline mutations in breast cancer progression in Egyptian female patients - Iman H Ibrahim, Heba G Abdel-Aziz, Fatema EM Hassan, Hesham SA El-Sameea, 2020
    1
    1. scibot 10 May 2021
      RRID:SCR_012813

      DOI: 10.1177/1535370220958610

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    journals.sagepub.com/doi/10.1177/1535370220958610
  58. www.sciencedirect.com www.sciencedirect.com
    Identification of genetic biomarkers in urine for early detection of prostate cancer
    1
    1. scibot 04 May 2021
      RRID:SCR_012813

      DOI: 10.1016/j.currproblcancer.2020.100616

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    sciencedirect.com/science/article/pii/S0147027220301033
  59. Mar 2021
  60. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Integrative identification of the pathogenic role of a novel G6PD missense mutation c.697G>C
    1
    1. scibot 13 Mar 2021
      RRID:SCR_012813

      DOI: 10.21037/atm-20-3941

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      Curator: @evieth

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    ncbi.nlm.nih.gov/pmc/articles/PMC7940930/
  61. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    New Insights Into Mitochondrial DNA Reconstruction and Variant Detection in Ancient Samples
    1
    1. scibot 09 Mar 2021
      RRID:SCR_012813

      DOI: 10.3389/fgene.2021.619950

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    ncbi.nlm.nih.gov/pmc/articles/PMC7930628/
  62. academic.oup.com academic.oup.com
    Germline EGFR variants are over-represented in adolescents and young adults (AYA) with adrenocortical carcinoma
    1
    1. scibot 03 Mar 2021
      RRID:SCR_012813

      DOI: 10.1093/hmg/ddaa268

      Resource: SIFT (RRID:SCR_012813)

      Curator: @Naa003

      SciCrunch record: RRID:SCR_012813

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      RRID:SCR_012813 RRIDCUR:Validated
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    academic.oup.com/hmg/article/29/22/3679/6035190
  63. Sep 2020
  64. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Novel and de novo point and large microdeletion mutation in PRRT2‐related epilepsy
    1
    1. scibot 23 Sep 2020
      RRID:SCR_012813

      DOI: 10.1002/brb3.1597

      Resource: SIFT (RRID:SCR_012813)

      Curator: @Naa003

      SciCrunch record: RRID:SCR_012813

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      RRID:SCR_012813 RRIDCUR:Validated
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    onlinelibrary.wiley.com/doi/10.1002/brb3.1597
  65. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    In silico analysis and high-risk pathogenic phenotype predictions of non-synonymous single nucleotide polymorphisms in human Crystallin beta A4 gene associated with congenital cataract
    1
    1. scibot 11 Sep 2020
      RRID:SCR_012813

      DOI: 10.1371/journal.pone.0227859

      Resource: SIFT (RRID:SCR_012813)

      Curator: @evieth

      SciCrunch record: RRID:SCR_012813

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      RRID:SCR_012813 RRIDCUR:Validated
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    ncbi.nlm.nih.gov/pmc/articles/PMC6959596/
  66. Jan 2020
  67. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Novel and de novo mutation of PCDH19 in Girls Clustering Epilepsy
    1
    1. scibot 13 Jan 2020
      RRID:SCR_012813

      DOI: 10.1002/brb3.1455

      Resource: SIFT (RRID:SCR_012813)

      Curator: @Naa003

      SciCrunch record: RRID:SCR_012813

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      RRID:SCR_012813 RRIDCUR:Validated
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    onlinelibrary.wiley.com/doi/10.1002/brb3.1455
  68. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Gene mutations in a Han Chinese Alzheimer's disease cohort
    1
    1. scibot 13 Jan 2020
      RRID:SCR_012813

      DOI: 10.1002/brb3.1180

      Resource: SIFT (RRID:SCR_012813)

      Curator: @evieth

      SciCrunch record: RRID:SCR_012813

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      RRID:SCR_012813 RRIDCUR:Validated
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    onlinelibrary.wiley.com/doi/full/10.1002/brb3.1180
  69. www.sciencedirect.com www.sciencedirect.com
    A Multiplexed Assay for Exon Recognition Reveals that an Unappreciated Fraction of Rare Genetic Variants Cause Large-Effect Splicing Disruptions
    1
    1. scibot 13 Jan 2020
      RRID:SCR_012813

      DOI: 10.1016/j.molcel.2018.10.037

      Resource: SIFT (RRID:SCR_012813)

      Curator: @Jmenke

      SciCrunch record: RRID:SCR_012813

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      RRID:SCR_012813 RRIDCUR:Validated
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    sciencedirect.com/science/article/pii/S1097276518308979
  70. Nov 2018
  71. academic.oup.com academic.oup.com
    Network-Based Identification of Adaptive Pathways in Evolved Ethanol-Tolerant Bacterial Populations
    1
    1. scibot 05 Nov 2018
      RRID:SCR_012813

      Resource used:

      (SIFT, RRID:SCR_012813)

      SciCrunch record: RRID:SCR_012813

      Alternate resolvers: SciCrunch xml N2T identifiers.org

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      RRID:SCR_012813
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    academic.oup.com/mbe/article/34/11/2927/4096621
  72. www.sciencedirect.com www.sciencedirect.com
    Molecular, Pathological, Radiological, and Immune Profiling of Non-brainstem Pediatric High-Grade Glioma from the HERBY Phase II Randomized Trial
    1
    1. scibot 05 Nov 2018
      SIFT

      Curator: @evieth

      Resource used:

      (SIFT, RRID:SCR_012813)

      SciCrunch record: RRID:SCR_012813

      Alternate resolvers: SciCrunch xml N2T identifiers.org

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      RRID:SCR_012813 RRIDCUR:Missing
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    sciencedirect.com/science/article/pii/S1535610818301752
  73. Nov 2017
  74. academic.oup.com academic.oup.com
    Network-Based Identification of Adaptive Pathways in Evolved Ethanol-Tolerant Bacterial Populations
    1
    1. scibot 08 Nov 2017
      RRID:SCR_012813

      Curator: @patriciaelyse_

      Resource used:

      (SIFT, RRID:SCR_012813)

      SciCrunch record: RRID:SCR_012813

      Alternate resolvers: SciCrunch xml N2T identifiers.org

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      RRID:SCR_012813 RRIDCUR:Validated
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    academic.oup.com/mbe/article/34/11/2927/4096621
  75. www.sciencedirect.com www.sciencedirect.com
    Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior
    1
    1. scibot 08 Nov 2017
      SIFT

      Curator: @chewbeccax

      Resource used:

      (SIFT, RRID:SCR_012813)

      SciCrunch record: RRID:SCR_012813

      Alternate resolvers: SciCrunch xml N2T identifiers.org

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      RRID:SCR_012813 RRIDCUR:Missing
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    sciencedirect.com/science/article/pii/S0092867416311692
  76. www.sciencedirect.com www.sciencedirect.com
    Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome
    1
    1. scibot 08 Nov 2017
      nlx_154618

      Curator: @gabimpine

      Resource used:

      (SIFT, RRID:SCR_012813)

      SciCrunch record: RRID:SCR_012813

      Alternate resolvers: SciCrunch xml N2T identifiers.org

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      RRID:SCR_012813
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    sciencedirect.com/science/article/pii/S0002929715004152