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66 Matching Annotations

Mar 2025
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov

The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population

1
1. scibot 28 Mar 2025
  
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  RRID:SCR_014964
  
  DOI: 10.1038/s41531-025-00896-2
  
  Resource: Genome Aggregation Database (RRID:SCR_014964)
  
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pmc.ncbi.nlm.nih.gov/articles/PMC11937388/
Feb 2025
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov

Fusion oncoproteins and cooperating mutations define disease phenotypes in NUP98-rearranged leukemia

1
1. scibot 27 Feb 2025
  
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  RRID:SCR_014964
  
  DOI: 10.1101/2025.01.21.25320683
  
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pmc.ncbi.nlm.nih.gov/articles/PMC11838931/
aacrjournals.org aacrjournals.org

A novel human SDHA‑knockout cell line model for the functional analysis of clinically‑relevant SDHA variants

1
1. scibot 13 Feb 2025
  
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  RRID:SCR_014964
  
  DOI: 10.1158/1078-0432.CCR-24-1601
  
  Resource: Genome Aggregation Database (RRID:SCR_014964)
  
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aacrjournals.org/clincancerres/article/30/23/5399/750191/A-Novel-Human-SDHA-Knockout-Cell-Line-Model-for
aacrjournals.org aacrjournals.org

Multiomics Profiling Distinguishes Sebaceous Carcinoma from Benign Sebaceous Neoplasms and Provides Insight into the Genetic Evolution of Sebaceous Carcinogenesis

1
1. scibot 13 Feb 2025
  
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  RRID:SCR_014964
  
  DOI: 10.1158/1078-0432.CCR-24-1327
  
  Resource: Genome Aggregation Database (RRID:SCR_014964)
  
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aacrjournals.org/clincancerres/article/30/21/4887/749133/Multiomics-Profiling-Distinguishes-Sebaceous
www.sciencedirect.com www.sciencedirect.com

Individualized patient tumor organoids faithfully preserve human brain tumor ecosystems and predict patient response to therapy

1
1. scibot 13 Feb 2025
  
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  RRID:SCR_014964
  
  DOI: 10.1016/j.stem.2025.01.002
  
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sciencedirect.com/science/article/pii/S1934590925000025
Jan 2025
physoc.onlinelibrary.wiley.com physoc.onlinelibrary.wiley.com

Skin disease-associated GJB4 variants differentially influence connexin stability, cell viability and channel function

1
1. scibot 17 Jan 2025
  
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  RRID:SCR_014964
  
  DOI: 10.1113/JP286367
  
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physoc.onlinelibrary.wiley.com/doi/10.1113/JP286367
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov

Clonal Hematopoiesis of Indeterminate Potential and its Association with Treatment Outcomes and Adverse Events in Patients with Solid Tumors

1
1. scibot 15 Jan 2025
  
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  RRID:SCR_014964
  
  DOI: 10.1158/2767-9764.CRC-24-0522
  
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pmc.ncbi.nlm.nih.gov/articles/PMC11713863/
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov

Beyond HRD Status: Unraveling Genetic Variants Impacting PARP Inhibitor Sensitivity in Advanced Ovarian Cancer

1
1. scibot 04 Jan 2025
  
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  RRID:SCR_014964
  
  DOI: 10.1158/2767-9764.CRC-24-0294
  
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pmc.ncbi.nlm.nih.gov/articles/PMC11670052/
Dec 2024
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov

Pan-Cancer Analysis of Homologous Recombination Deficiency in Cell Lines

1
1. scibot 11 Dec 2024
  
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  RRID:SCR_014964
  
  DOI: 10.1158/2767-9764.CRC-24-0316
  
  Resource: Genome Aggregation Database (RRID:SCR_014964)
  
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pmc.ncbi.nlm.nih.gov/articles/PMC11621922/
Nov 2024
52.53.155.43 52.53.155.43

ccr-24-1884-html.html

1
1. scibot 14 Nov 2024
  
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  SCR_014964
  
  DOI: 10.1158/1078-0432.ccr-24-1884
  
  Resource: Genome Aggregation Database (RRID:SCR_014964)
  
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52.53.155.43/ea98aa5d62a1ba29416210f2e28b0b45a8941a16/ccr-24-1884-html.html
52.53.155.43 52.53.155.43

ccr-24-1240-html.html

1
1. scibot 14 Nov 2024
  
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  SCR_014964
  
  DOI: 10.1158/1078-0432.ccr-24-1240
  
  Resource: Genome Aggregation Database (RRID:SCR_014964)
  
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52.53.155.43/6cf3ca03fe9336b8c2f71d4e78c72374e9cc1cef/ccr-24-1240-html.html
Sep 2024
movementdisorders.onlinelibrary.wiley.com movementdisorders.onlinelibrary.wiley.com

NeuroBooster Array: A Genome-Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations

1
1. scibot 27 Sep 2024
  
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  RRID:SCR_014964
  
  DOI: 10.1002/mds.29902
  
  Resource: Genome Aggregation Database (RRID:SCR_014964)
  
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movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mds.29902
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

An interconnected data infrastructure to support large-scale rare disease research

1
1. scibot 25 Sep 2024
  
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  RRID:SCR_014964
  
  DOI: 10.1093/gigascience/giae058
  
  Resource: Genome Aggregation Database (RRID:SCR_014964)
  
  Curator: @evieth
  
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ncbi.nlm.nih.gov/pmc/articles/PMC11413801/
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

SJPedPanel: A pan-cancer gene panel for childhood malignancies to enhance cancer monitoring and early detection

1
1. scibot 25 Sep 2024
  
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  RRID:SCR_014964
  
  DOI: 10.1158/1078-0432.CCR-24-1063
  
  Resource: Genome Aggregation Database (RRID:SCR_014964)
  
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ncbi.nlm.nih.gov/pmc/articles/PMC11393547/
Jul 2024
www.nature.com www.nature.com

Novel molecular subtypes of METex14 non-small cell lung cancer with distinct biological and clinical significance

1
1. scibot 30 Jul 2024
  
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  RRID:SCR_014964
  
  DOI: 10.1038/s41698-024-00642-6
  
  Resource: Genome Aggregation Database (RRID:SCR_014964)
  
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nature.com/articles/s41698-024-00642-6
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
  
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  RRID:SCR_014964
  
  DOI: 10.1016/j.isci.2024.110366
  
  Resource: Genome Aggregation Database (RRID:SCR_014964)
  
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cell.com/iscience/abstract/S2589-0042(24)01591-8
May 2024
aacrjournals.org aacrjournals.org

Negative hyperselection of resistance mutations for panitumumab maintenance in RAS wild-type metastatic colorectal cancer (PanaMa phase II trial, AIO KRK 0212)

1
1. scibot 23 May 2024
  
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  RRID:SCR_014964
  
  DOI: 10.1158/1078-0432.CCR-23-3023
  
  Resource: Genome Aggregation Database (RRID:SCR_014964)
  
  Curator: @abever99
  
  SciCrunch record: RRID:SCR_014964
  
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  RRID:SCR_014964 DOI:10.1158/1078-0432.CCR-23-3023
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DOI:10.1158/1078-0432.CCR-23-3023

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aacrjournals.org/clincancerres/article/30/7/1256/741834/Negative-Hyperselection-of-Resistance-Mutations
aacrjournals.org aacrjournals.org

Integrative molecular analyses of the MD Anderson prostate cancer patient-derived xenograft (MDA PCa PDX) series

1
1. scibot 17 May 2024
  
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  RRID:SCR_014964
  
  DOI: 10.1158/1078-0432.CCR-23-2438
  
  Resource: Genome Aggregation Database (RRID:SCR_014964)
  
  Curator: @scibot
  
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aacrjournals.org/clincancerres/article/30/10/2272/745168/Integrative-Molecular-Analyses-of-the-MD-Anderson
Mar 2024
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Patient derived tumoroids of high grade neuroendocrine neoplasms for more personalized therapies

1
1. scibot 06 Mar 2024
  
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  RRID:SCR_014964
  
  DOI: 10.1038/s41698-024-00549-2
  
  Resource: Genome Aggregation Database (RRID:SCR_014964)
  
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ncbi.nlm.nih.gov/pmc/articles/PMC10907580/
Jan 2024
www.sciencedirect.com www.sciencedirect.com

Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy

1
1. scibot 25 Jan 2024
  
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  RRID:SCR_014964
  
  DOI: 10.1016/j.xcrm.2023.101383
  
  Resource: Genome Aggregation Database (RRID:SCR_014964)
  
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sciencedirect.com/science/article/pii/S2666379123006122
www.nature.com www.nature.com

A new genomic framework to categorize pediatric acute myeloid leukemia

1
1. scibot 18 Jan 2024
  
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  RRID:SCR_014964
  
  DOI: 10.1038/s41588-023-01640-3
  
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nature.com/articles/s41588-023-01640-3
Dec 2023
www.sciencedirect.com www.sciencedirect.com

Titin domains with reduced core hydrophobicity cause dilated cardiomyopathy

1
1. scibot 20 Dec 2023
  
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  RRID:SCR_014964
  
  DOI: 10.1016/j.celrep.2023.113490
  
  Resource: Genome Aggregation Database (RRID:SCR_014964)
  
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sciencedirect.com/science/article/pii/S2211124723015024
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

NeuroBooster Array: A Genome-Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations

1
1. scibot 01 Dec 2023
  
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  RRID:SCR_014964
  
  DOI: 10.1101/2023.11.06.23298176
  
  Resource: Genome Aggregation Database (RRID:SCR_014964)
  
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ncbi.nlm.nih.gov/pmc/articles/PMC10659467/
52.53.155.43 52.53.155.43

physiolgenomics.00070.2023-html.html

1
1. scibot 01 Dec 2023
  
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  RRID:SCR_014964
  
  DOI: 10.6084/m9.figshare.23598732.v4
  
  Resource: Genome Aggregation Database (RRID:SCR_014964)
  
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52.53.155.43/37a553f0bc437dc481c95fcb3601b715ab4e52f5/physiolgenomics.00070.2023-html.html
journals.physiology.org journals.physiology.org

Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease

1
1. scibot 01 Dec 2023
  
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  RRID:SCR_014964
  
  DOI: 10.1152/physiolgenomics.00070.2023
  
  Resource: Genome Aggregation Database (RRID:SCR_014964)
  
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journals.physiology.org/doi/10.1152/physiolgenomics.00070.2023
Nov 2023
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Clinical and Molecular Features of Long-term Response to Immune Checkpoint Inhibitors in Patients with Advanced Non–Small Cell Lung Cancer

1
1. scibot 03 Nov 2023
  
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  RRID:SCR_014964
  
  DOI: 10.1158/1078-0432.CCR-23-1207
  
  Resource: Genome Aggregation Database (RRID:SCR_014964)
  
  Curator: @scibot
  
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ncbi.nlm.nih.gov/pmc/articles/PMC10618656/
Oct 2023
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Super-enhancer hijacking drives ectopic expression of hedgehog pathway ligands in meningiomas

1
1. scibot 12 Oct 2023
  
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  RRID:SCR_014964
  
  DOI: 10.1038/s41467-023-41926-y
  
  Resource: Genome Aggregation Database (RRID:SCR_014964)
  
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ncbi.nlm.nih.gov/pmc/articles/PMC10560290/
Jul 2023
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
  
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  RRID:SCR_014964
  
  DOI: 10.7554/eLife.85649
  
  Resource: Genome Aggregation Database (RRID:SCR_014964)
  
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ncbi.nlm.nih.gov/pmc/articles/PMC10319434/
Jun 2023
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Mutational Landscape of CEBPA in Mexican Pediatric Acute Myeloid Leukemia Patients: Prognostic Implications

2
1. scibot 06 Jun 2023
  
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  RRID:SCR_01
  
  DOI: 10.3389/fped.2022.899742
  
  Resource: SCR_01 4964
  
  Curator: @evieth
  
  SciCrunch record: RRID:SCR_01 4964
  
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  RRIDCUR:Unresolved RRID:SCR_014964
2. scibot 06 Jun 2023
  
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  RRID:SCR_01
  
  DOI: 10.3389/fped.2022.899742
  
  Resource: SCR_01 4964
  
  Curator: @evieth
  
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  RRIDCUR:Unresolved RRID:SCR_014964
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ncbi.nlm.nih.gov/pmc/articles/PMC9367218/
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Clinical Efficacy and Whole Exome Sequencing of Liquid Biopsies in a Phase IB/II study of Bazedoxifene and Palbociclib in Advanced Hormone Receptor-Positive Breast Cancer

1
1. scibot 03 Jun 2023
  
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  RRID:SCR_014964
  
  DOI: 10.1158/1078-0432.CCR-22-2305
  
  Resource: Genome Aggregation Database (RRID:SCR_014964)
  
  Curator: @scibot
  
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ncbi.nlm.nih.gov/pmc/articles/PMC9722539/
52.53.155.43 52.53.155.43

Rare heterozygous loss-of-function variants in the human GLP-1 receptor do not associate with cardiometabolic phenotypes

1
1. scibot 01 Jun 2023
  
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  RRID:SCR_014964
  
  DOI: 10.1210/clinem/dgad290
  
  Resource: Genome Aggregation Database (RRID:SCR_014964)
  
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52.53.155.43/0d8a8326e207e02308b62f547ab272752606f288/dgad290-html.html
Apr 2023
www.sciencedirect.com www.sciencedirect.com

Ultra-rare complement factor 8 coding variants in families with age-related macular degeneration

1
1. scibot 06 Apr 2023
  
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  RRID:SCR_014964
  
  DOI: 10.1016/j.isci.2023.106417
  
  Resource: Genome Aggregation Database (RRID:SCR_014964)
  
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sciencedirect.com/science/article/pii/S2589004223004947
Feb 2023
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia

1
1. scibot 09 Feb 2023
  
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  RRID:SCR_014964
  
  DOI: 10.1158/2643-3230.BCD-21-0160
  
  Resource: Genome Aggregation Database (RRID:SCR_014964)
  
  Curator: @scibot
  
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ncbi.nlm.nih.gov/pmc/articles/PMC9780084/
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

A molecular phenotypic map of malignant pleural mesothelioma

1
1. scibot 02 Feb 2023
  
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Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome

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Novel RSPH4A Variants Associated With Primary Ciliary Dyskinesia–Related Infertility in Three Chinese Families

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Clinicopathologic Characteristics of Grade 2/3 Meningiomas: A Perspective on the Role of Next-Generation Sequencing

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Investigating the characteristics of genes and variants associated with self-reported hearing difficulty in older adults in the UK Biobank

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Serial Tumor Molecular Profiling of Newly Diagnosed HER2-Negative Breast Cancers During Chemotherapy in Combination with Angiogenesis Inhibitors

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A Role for Gene-Environment Interactions in Autism Spectrum Disorder Is Supported by Variants in Genes Regulating the Effects of Exposure to Xenobiotics

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A Role for Gene-Environment Interactions in Autism Spectrum Disorder Is Supported by Variants in Genes Regulating the Effects of Exposure to Xenobiotics

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F1000Research Article: The third international hackathon for applying insights into large-scale genomic composition to use cases in a wide range of organisms.

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Roles of Endomembrane Alkali Cation/Proton Exchangers in Synaptic Function and Neurodevelopmental Disorders

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LT1, an ONT long-read-based assembly scaffolded with Hi-C data and polished with short reads

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A Phenogenetic Axis that Modulates Clinical Manifestation and Predicts Treatment Outcome in Primary Myeloid NeoplasmsLandscape of Myeloid Neoplasms in a Chinese Cohort

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F1000Research Article: IsoAligner: dynamic mapping of amino acid positions across protein isoforms.

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Prevalence and phenotypic features of diabetes due to recessive, non-syndromic WFS1 mutations

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Monoallelic MUTYH pathogenic variants ascertained via multi-gene hereditary cancer panels are not associated with colorectal, endometrial, or breast cancer

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Human genetic analyses of organelles highlight the nucleus in age-related trait heritability

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Genomic characterization of de novo metastatic breast cancer

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ABCC9 -related Intellectual disability Myopathy Syndrome is a K ATP channelopathy with loss-of-function mutations in ABCC9

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  gnomAD
  
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Untitled document

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Electrocardiographic Screening of Arrhythmogenic Cardiomyopathy in Genotype-Positive and Phenotype-Negative Relatives

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Analysis of Brugada syndrome loci reveals that fine-mapping clustered GWAS hits enhances the annotation of disease-relevant variants

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BPS Publications

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Human polymorphisms in GSDMD alter the inflammatory response

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Germline EGFR variants are over-represented in adolescents and young adults (AYA) with adrenocortical carcinoma

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A Connected Network of Interacting Proteins Is Involved in Human-Tau Toxicity in Drosophila

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Dyshomeostatic modulation of Ca2+-activated K+ channels in a human neuronal model of KCNQ2 encephalopathy

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Dec 2020
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Single-cell multiomic profiling of human lungs reveals cell-type-specific and age-dynamic control of SARS-CoV2 host genes

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Assorted dysfunctions of endosomal alkali cation/proton exchanger SLC9A6 variants linked to Christianson syndrome

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Rare missense variants in the human cytosolic antibody receptor preserve antiviral function

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A Patient-Derived Glioblastoma Organoid Model and Biobank Recapitulates Inter- and Intra-tumoral Heterogeneity

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Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks

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Integrated Proteogenomic Characterization of HBV-Related Hepatocellular Carcinoma

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