44 Matching Annotations
  1. Jul 2024
  2. www.cell.com www.cell.com
    Further evidence from DNAH12 supports favorable fertility outcomes of infertile males with dynein axonemal heavy chain gene family variants
    1
    1. scibot 23 Jul 2024
      RRID:SCR_013189

      DOI: 10.1016/j.isci.2024.110366

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    cell.com/iscience/abstract/S2589-0042(24)01591-8
  3. Apr 2024
  4. 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_013189

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

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    ncbi.nlm.nih.gov/pmc/articles/PMC11024958/
  5. 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_013189

      DOI: 10.21037/tp-23-568

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    ncbi.nlm.nih.gov/pmc/articles/PMC10998992/
  6. Mar 2024
  7. 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_013189

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

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    ncbi.nlm.nih.gov/pmc/articles/PMC10527971/
  8. Feb 2024
  9. www.mdpi.com www.mdpi.com
    Sequence Analysis of Six Candidate Genes in Miniature Schnauzers with Primary Hypertriglyceridemia
    1
    1. scibot 07 Feb 2024
      RRID SCR_013189

      DOI: 10.3390/genes15020193

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    mdpi.com/2073-4425/15/2/193
  10. Dec 2023
  11. 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_013189

      DOI: 10.1016/j.seizure.2023.12.008

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    sciencedirect.com/science/article/pii/S1059131123003230
  12. 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_013189

      DOI: 10.1016/j.ccell.2023.11.010

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    sciencedirect.com/science/article/pii/S1535610823004014
  13. Jul 2023
  14. 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_013189

      DOI: 10.1016/j.isci.2023.107193

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    sciencedirect.com/science/article/pii/S2589004223012701
  15. 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_013189

      DOI: 10.7554/eLife.85649

      Resource: PolyPhen: Polymorphism Phenotyping (RRID:SCR_013189)

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    ncbi.nlm.nih.gov/pmc/articles/PMC10319434/
  16. Jun 2023
  17. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    DAB2IP Is a Bifunctional Tumor Suppressor That Regulates Wild-Type RAS and Inflammatory Cascades in KRAS Mutant Colon Cancer
    1
    1. scibot 07 Jun 2023
      RRID:SCR_013189

      DOI: 10.1158/0008-5472.CAN-22-0370

      Resource: PolyPhen: Polymorphism Phenotyping (RRID:SCR_013189)

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    ncbi.nlm.nih.gov/pmc/articles/PMC10236151/
  18. May 2023
  19. www.mdpi.com www.mdpi.com
    An ABCC9 Missense Variant Is Associated with Sudden Cardiac Death and Dilated Cardiomyopathy in Juvenile Dogs
    1
    1. scibot 04 May 2023
      RRID:SCR_013189

      DOI: 10.3390/genes14050988

      Resource: PolyPhen: Polymorphism Phenotyping (RRID:SCR_013189)

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    mdpi.com/2073-4425/14/5/988
  20. Feb 2023
  21. 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_013189

      DOI: 10.1002/mgg3.2146

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    onlinelibrary.wiley.com/doi/10.1002/mgg3.2146
  22. Dec 2022
  23. aacrjournals.org aacrjournals.org
    Treatment represents a key driver of metastatic cancer evolution
    1
    1. scibot 03 Dec 2022
      RRID:SCR_013189

      DOI: 10.1158/0008-5472.CAN-22-0562

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    aacrjournals.org/cancerres/article/82/16/2918/707589/Treatment-Represents-a-Key-Driver-of-Metastatic
  24. Oct 2022
  25. 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
      RRID:SCR_013189

      DOI: 10.3389/fphar.2022.931089

      Resource: PolyPhen: Polymorphism Phenotyping (RRID:SCR_013189)

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    ncbi.nlm.nih.gov/pmc/articles/PMC9579345/
  26. 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_013189

      DOI: 10.3389/fgene.2022.993064

      Resource: PolyPhen: Polymorphism Phenotyping (RRID:SCR_013189)

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    ncbi.nlm.nih.gov/pmc/articles/PMC9554350/
  27. Sep 2022
  28. 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_013189

      DOI: 10.1038/s41598-022-20343-z

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    nature.com/articles/s41598-022-20343-z
  29. Jul 2022
  30. 52.53.155.43 52.53.155.43
    can-22-0562-html.html
    1
    1. scibot 29 Jul 2022
      RRID:SCR_013189

      DOI: 10.1158/0008-5472.can-22-0562

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    52.53.155.43/8c7b2e34266716d0e8a158964df85929e854412b/can-22-0562-html.html
  31. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A randomized clinical trial of precision prevention materials incorporating MC1R genetic risk to improve skin cancer prevention activities among Hispanics
    1
    1. scibot 27 Jul 2022
      RRID:SCR_013189

      DOI: 10.1158/2767-9764.crc-21-0114

      Resource: PolyPhen: Polymorphism Phenotyping (RRID:SCR_013189)

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    ncbi.nlm.nih.gov/pmc/articles/PMC9286490/
  32. www.sciencedirect.com www.sciencedirect.com
    Assessment of skin cancer precision prevention materials among Hispanics in Florida and Puerto Rico
    1
    1. scibot 08 Jul 2022
      RRID:SCR_013189

      DOI: 10.1016/j.pec.2022.06.012

      Resource: PolyPhen: Polymorphism Phenotyping (RRID:SCR_013189)

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    sciencedirect.com/science/article/pii/S0738399122002920
  33. Jun 2022
  34. 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_013189

      DOI: 10.3389/fnins.2022.862315

      Resource: PolyPhen: Polymorphism Phenotyping (RRID:SCR_013189)

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    europepmc.org/article/PMC/PMC9161282
  35. 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_013189

      DOI: 10.3389/fnins.2022.862315

      Resource: PolyPhen: Polymorphism Phenotyping (RRID:SCR_013189)

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    ncbi.nlm.nih.gov/pmc/articles/PMC9161282/
  36. Apr 2022
  37. 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_013189

      DOI: 10.1007/s13258-022-01249-6

      Resource: PolyPhen: Polymorphism Phenotyping (RRID:SCR_013189)

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    link.springer.com/article/10.1007/s13258-022-01249-6
  38. jeccr.biomedcentral.com jeccr.biomedcentral.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_013189

      DOI: 10.1186/s13046-022-02333-1

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    jeccr.biomedcentral.com/articles/10.1186/s13046-022-02333-1/tables/2
  39. 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_013189

      DOI: 10.1530/EJE-21-0097

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    eje.bioscientifica.com/view/journals/eje/186/2/EJE-21-0097.xml
  40. Jan 2022
  41. crc.aacrjournals.org crc.aacrjournals.org
    A Randomized Clinical Trial of Precision Prevention Materials Incorporating MC1R Genetic Risk to Improve Skin Cancer Prevention Activities Among HispanicsPrecision Prevention Trial for Skin Cancer in Hispanics
    1
    1. scibot 15 Jan 2022
      RRID:SCR_013189

      DOI: 10.1158/2767-9764.CRC-21-0114

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    crc.aacrjournals.org/cancerrescommun/article/2/1/28/674376/A-Randomized-Clinical-Trial-of-Precision
  42. Aug 2021
  43. www.sciencedirect.com www.sciencedirect.com
    Untitled document
    1
    1. scibot 04 Aug 2021
      RRID:SCR_013189

      DOI: 10.1016/j.cub.2018.11.055

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    sciencedirect.com/science/article/pii/S0960982218315549
  44. Jul 2021
  45. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Novel and de novo mutation of PCDH19 in Girls Clustering Epilepsy
    1
    1. scibot 29 Jul 2021
      RRID: SCR_013189

      DOI: 10.1002/brb3.1455

      Resource: PolyPhen: Polymorphism Phenotyping (RRID:SCR_013189)

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    onlinelibrary.wiley.com/doi/10.1002/brb3.1455
  46. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Functional analysis of novel RUNX2 mutations identified in patients with Cleidocranial dysplasia
    1
    1. scibot 29 Jul 2021
      Polyphen

      DOI: 10.1111/cge.13610

      Resource: PolyPhen: Polymorphism Phenotyping (RRID:SCR_013189)

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    onlinelibrary.wiley.com/doi/10.1111/cge.13610
  47. link.springer.com link.springer.com
    Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency
    1
    1. scibot 29 Jul 2021
      PolyPhen

      DOI: 10.1007/s11011-019-00464-7

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    link.springer.com/article/10.1007/s11011-019-00464-7
  48. academic.oup.com academic.oup.com
    POLR2C Mutations Are Associated With Primary Ovarian Insufficiency in Women
    1
    1. scibot 29 Jul 2021
      PolyPhen

      DOI: 10.1210/js.2016-1014

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    academic.oup.com/jes/article/1/3/162/3063797
  49. 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 28 Jul 2021
      PolyPhen

      DOI: 10.1016/j.molcel.2018.10.037

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      Curator: @Jmenke

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    sciencedirect.com/science/article/pii/S1097276518308979
  50. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Gene mutations in a Han Chinese Alzheimer's disease cohort
    1
    1. scibot 27 Jul 2021
      RRID:SCR_016630

      DOI: 10.1002/brb3.1180

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    ncbi.nlm.nih.gov/pmc/articles/PMC6346667/
  51. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Gene mutations in a Han Chinese Alzheimer's disease cohort
    1
    1. scibot 27 Jul 2021
      RRID:SCR_016630

      DOI: 10.1002/brb3.1180

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    onlinelibrary.wiley.com/doi/full/10.1002/brb3.1180
  52. 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_013189

      DOI: 10.1016/j.celrep.2021.109315

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    sciencedirect.com/science/article/pii/S2211124721006914
  53. May 2021
  54. 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_013189

      DOI: 10.1016/j.currproblcancer.2020.100616

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    sciencedirect.com/science/article/pii/S0147027220301033
  55. Apr 2021
  56. www.sciencedirect.com www.sciencedirect.com
    A naturally occurring mutation in ATP synthase subunit c is associated with increased damage following hypoxia/reoxygenation in STEMI patients
    1
    1. scibot 14 Apr 2021
      RRID:SCR_013189

      DOI: 10.1016/j.celrep.2021.108983

      Resource: PolyPhen: Polymorphism Phenotyping (RRID:SCR_013189)

      Curator: @Naa003

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      RRID:SCR_013189 RRIDCUR:Validated
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    sciencedirect.com/science/article/pii/S2211124721002977
  57. Mar 2021
  58. 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_013189

      DOI: 10.21037/atm-20-3941

      Resource: PolyPhen: Polymorphism Phenotyping (RRID:SCR_013189)

      Curator: @evieth

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    ncbi.nlm.nih.gov/pmc/articles/PMC7940930/
  59. 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_013189

      DOI: 10.3389/fgene.2021.619950

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      Curator: @evieth

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      RRID:SCR_013189 RRIDCUR:Validated
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    ncbi.nlm.nih.gov/pmc/articles/PMC7930628/
  60. 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_013189

      DOI: 10.1093/hmg/ddaa268

      Resource: PolyPhen: Polymorphism Phenotyping (RRID:SCR_013189)

      Curator: @Naa003

      SciCrunch record: RRID:SCR_013189

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      RRIDCUR:Validated RRID:SCR_013189
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    academic.oup.com/hmg/article/29/22/3679/6035190
  61. Sep 2020
  62. 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 09 Sep 2020
      RRID:SCR_013189

      DOI: 10.1371/journal.pone.0227859

      Resource: PolyPhen: Polymorphism Phenotyping (RRID:SCR_013189)

      Curator: @evieth

      SciCrunch record: RRID:SCR_013189

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      RRIDCUR:Validated RRID:SCR_013189
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    ncbi.nlm.nih.gov/pmc/articles/PMC6959596/
  63. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Novel and de novo point and large microdeletion mutation in PRRT2‐related epilepsy
    1
    1. scibot 04 Sep 2020
      RRID: SCR_013189

      DOI: 10.1002/brb3.1597

      Resource: PolyPhen: Polymorphism Phenotyping (RRID:SCR_013189)

      Curator: @Naa003

      SciCrunch record: RRID:SCR_013189

      Curator comments: PolyPhen: Polymorphism Phenotyping

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      RRID:SCR_013189
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    onlinelibrary.wiley.com/doi/10.1002/brb3.1597
  64. diabetes.diabetesjournals.org diabetes.diabetesjournals.org
    Crucial Role of the SH2B1 PH Domain for the Control of Energy Balance
    1
    1. scibot 03 Sep 2020
      RRID:SCR_013189

      DOI: 10.2337/db19-0608

      Resource: PolyPhen: Polymorphism Phenotyping (RRID:SCR_013189)

      Curator: @evieth

      SciCrunch record: RRID:SCR_013189

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      RRID:SCR_013189
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    diabetes.diabetesjournals.org/content/68/11/2049
  65. Jan 2020
  66. www.sciencedirect.com www.sciencedirect.com
    Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks
    1
    1. scibot 13 Jan 2020
      RRID:SCR_013189

      DOI: 10.1016/j.cell.2019.07.015

      Resource: PolyPhen: Polymorphism Phenotyping (RRID:SCR_013189)

      Curator: @ethanbadger

      SciCrunch record: RRID:SCR_013189

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      RRID:SCR_013189 RRIDCUR:Validated
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    sciencedirect.com/science/article/pii/S0092867419307809
  67. Nov 2018
  68. 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
      PolyPhen

      Curator: @evieth

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      (PolyPhen: Polymorphism Phenotyping, RRID:SCR_013189)

      SciCrunch record: RRID:SCR_013189

      Alternate resolvers: SciCrunch xml N2T identifiers.org

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      RRID:SCR_013189 RRIDCUR:Missing
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    sciencedirect.com/science/article/pii/S1535610818301752