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98 results for “germline mutation”

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geo24/100

A germline mutation of CDKN2A and a novel RPLP1-C19MC fusion detected in a rare melanotic neuroectodermal tumor of infancy: a case report [aCGH]

GEO Series GSE84428. Homo sapiens. 2 samples. Type: Genome variation profiling by genome tiling array.

openGEO-OpenAug 2016View details →
geo24/100

Clinical characteristics and exploratory genomic analyses of germline BRCA1 or BRCA2 mutations in breast cancer

GEO Series GSE149276. Homo sapiens. 34 samples. Type: Expression profiling by high throughput sequencing.

openGEO-OpenApr 2020View details →
geo24/100

Mouse Homolog of a Human TP53 Germline Mutation Reveals a Lipolytic Activity of p53

GEO Series GSE132715. Mus musculus. 17 samples. Type: Expression profiling by high throughput sequencing; Genome binding/occupancy profiling by high throughput sequencing.

openGEO-OpenJan 2020View details →
geo24/100

Human iPSC-derived neurons and cerebral organoids establish differential effects of germline NF1 gene mutations

GEO Series GSE144601. Homo sapiens. 12 samples. Type: Expression profiling by high throughput sequencing.

openGEO-OpenMar 2020View details →
geo24/100

piwi mutations and c-Fos overexpression on Drosophila ovarian germline

GEO Series GSE69722. Drosophila melanogaster. 12 samples. Type: Expression profiling by high throughput sequencing.

openGEO-OpenFeb 2017View details →
geo24/100

Pancreatic neuroendocrine tumor: case report of a patient with germline FANCD2 mutation and tumor analysis using single-cell RNA sequencing

GEO Series GSE279805. Homo sapiens. 1 samples. Type: Expression profiling by high throughput sequencing.

openGEO-OpenDec 2024View details →
geo24/100

A germline mutation of CDKN2A and a novel RPLP1-C19MC fusion detected in a rare melanotic neuroectodermal tumor of infancy: a case report [Seq]

GEO Series GSE84430. Homo sapiens. 3 samples. Type: Expression profiling by high throughput sequencing; Genome variation profiling by high throughput sequencing.

openGEO-OpenAug 2016View details →
geo24/100

Insights into inherited thrombocytopenia resulting from mono-allelic germline mutations in ETV6 or RUNX1 using a human pluripotent stem cell model

GEO Series GSE168326. Homo sapiens. 12 samples. Type: Expression profiling by high throughput sequencing.

openGEO-OpenMar 2021View details →
zenodo24/100

Custom scripts used in the study "Nucleosome positioning stability is a modulator of germline mutation rate variation across the human genome"

<p>Custom scripts and associated data used in the study &quot;Nucleosome positioning stability is a modulator of germline mutation rate variation across the human genome&quot;</p>

opencc-by-4.0Jan 2020View details →
ClinicalTrials.gov24/100

A Bioequivalence Study to Evaluate Pharmacokinetics and Safety of BR2022 and BR2022-1 in Patients With Deleterious or Suspected Deleterious Germline BRCA-Mutated Advanced Ovarian Cancer

ClinicalTrials.gov study NCT07069335. IPD Sharing: NO. Countries: 1. Publications: 0.

closedIPD-NOFeb 2026View details →
ClinicalTrials.gov24/100

Analysing Outcomes After Prostate Cancer Diagnosis and Treatment in Carriers of Rare Germline Mutations

ClinicalTrials.gov study NCT02705846. IPD Sharing: YES. Countries: 1. Publications: 0.

controlledIPD-YESFeb 2026View details →
ClinicalTrials.gov24/100

Studying the Effect of Denosumab on Preventing Breast Cancer in Women With a BRCA1 Germline Mutation

ClinicalTrials.gov study NCT04711109. IPD Sharing: YES. Countries: 1. Publications: 0.

controlledIPD-YESFeb 2026View details →
ClinicalTrials.gov24/100

Neoadjuvant Fluzoparib in Germline BRCA-mutated Three-negative Breast Cancer Breast Cancer

ClinicalTrials.gov study NCT05834582. IPD Sharing: NO. Countries: 1. Publications: 0.

closedIPD-NOFeb 2026View details →
ClinicalTrials.gov24/100

Neoadjuvant Fluzoparib Combined With Camrelizumab in Germline BRCA-mutated HER2-negative Breast Cancer

ClinicalTrials.gov study NCT05576389. IPD Sharing: UNDECIDED. Countries: 1. Publications: 0.

restrictedIPD-UNDECIDEDFeb 2026View details →
ClinicalTrials.gov24/100

Sirolimus for Improving Social Abilities in People With PTEN Germline Mutations

ClinicalTrials.gov study NCT06080165. IPD Sharing: YES. Countries: 1. Publications: 0.

controlledIPD-YESFeb 2026View details →
ClinicalTrials.gov24/100

Study for Characterisation of Predictive Parameters of Clonal Evolution in Subjects With GATA2 Germline Mutation

ClinicalTrials.gov study NCT05983991. IPD Sharing: Not stated. Countries: 1. Publications: 0.

restrictedIPD-UNDECIDEDFeb 2026View details →
ClinicalTrials.gov24/100

Efficacy of Olaparib in Advanced Cancers Occurring in Patients With Germline Mutations or Somatic Tumor Mutations in Homologous Recombination Genes

ClinicalTrials.gov study NCT03967938. IPD Sharing: NO. Countries: 1. Publications: 0.

closedIPD-NOFeb 2026View details →
ClinicalTrials.gov24/100

Olaparib With Cediranib or AZD6738 for the Treatment of Advanced or Metastatic Germline BRCA Mutated Breast Cancer

ClinicalTrials.gov study NCT04090567. IPD Sharing: Not stated. Countries: 1. Publications: 0.

restrictedIPD-UNDECIDEDFeb 2026View details →
ClinicalTrials.gov24/100

Novel Neoadjuvant and Adjuvant Strategy for Germline BRCA 1/2 Mutated Triple Negative Breast Cancer

ClinicalTrials.gov study NCT05485766. IPD Sharing: NO. Countries: 1. Publications: 0.

closedIPD-NOFeb 2026View details →
ClinicalTrials.gov24/100

LobularCard Trial: Searching for Novel Germline Mutations in Lobular Breast Cancer Patients

ClinicalTrials.gov study NCT05410951. IPD Sharing: NO. Countries: 1. Publications: 0.

closedIPD-NOFeb 2026View details →

ScienceDex guides

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These curated guides explain access requirements, typical timelines, costs, and reuse considerations for widely used research datasets.

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Allen Brain Atlas

Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.

allen-brain-atlas
neuroscienceopenDocumentation, web resources, and API references are available online.
Last verified 2026-04-30Open record

Annotated Behaviour and Observability Dataset (ABODe)

ABODe is a University of Edinburgh DataShare dataset for behavior classification in group-housed mice using home-cage video, identities, bounding boxes, ground-plate positions, and annotator labels.

abode-home-cage
behavioral-neuroscienceopenThe DataShare record exposes download links for annotations, documentation, license text, and the zipped per-snippet data directory.
Last verified 2026-04-30Open record

DANDI Archive for NWB datasets

DANDI is a BRAIN Initiative archive for publishing and sharing neurophysiology data, including electrophysiology, optophysiology, and behavioral data packaged as NWB and related standards.

dandi-nwb
electrophysiologyopenPublished Dandiset metadata and archive endpoints are available through the production DANDI API.
Last verified 2026-04-30Open record

International Brain Laboratory public data

The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.

ibl
behavioral-neuroscienceopenPublic sessions can be searched and loaded from the IBL public data server through ONE.
Last verified 2026-04-29Open record

OpenNeuro

OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.

openneuro
neuroscienceopenPublished datasets are available on demand over the internet.
Last verified 2026-04-29Open record

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