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10 merged results for "Integrated Genetic Approaches in Therapeutic Discovery for Rare Diseases"

Partial results: at least one source did not answer. Available results are shown rather than treating an upstream outage as zero matches.

1. Public antibody clonotypes and deep learning identify SARS-CoV-2 and HIV broadly neutralizing antibodies in immune repertoires.

   Zhou L, Yu Z, Lin S, Jiang Y · 2026 · Cell reports

   limited evidence Transparent signal score 43/100 · policy 1.0.0

   Found in pubmed · DOI 10.1016/j.celrep.2026.117582

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   • not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
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   • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer

2. Insulin-like growth factor receptor signaling in physiology and disease.

   Dilawar M, Malik A, Liao J, Shen P · 2026 · Signal transduction and targeted therapy

   limited evidence Transparent signal score 45/100 · policy 1.0.0

   Found in pubmed · DOI 10.1038/s41392-026-02843-w

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   • supportingOpen access status: Normalized open-access status: open. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
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   • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer

3. When Powerhouses Fail and Rust Takes Over: Primary Mitochondrial and Lipid Metabolism Failure with Secondary Iron Accumulation and Lipid Peroxidation in Neurodegeneration with Brain Iron Accumulation.

   Vijeev A, Basha S, Nadig SS, Agarwal K · 2026 · ASN neuro

   limited evidence Transparent signal score 45/100 · policy 1.0.0

   Found in pubmed · DOI 10.1080/17590914.2026.2717255

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   • supportingOpen access status: Normalized open-access status: open. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
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   • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer

4. When muscles matter in SORD neuropathy.

   Kölbel H, Hentschel A, Preuße C, Tiet M · 2026 · Journal of neuropathology and experimental neurology

   limited evidence Transparent signal score 43/100 · policy 1.0.0

   Found in pubmed · DOI 10.1093/jnen/nlag057

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   • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer

5. Use of Fluid Biomarkers in NMOSD and MOGAD: Clinical and Research Applications.

   Mariotto S, Cobo-Calvo A, Khalil M, Armangue T · 2026 · Neurology(R) neuroimmunology & neuroinflammation

   limited evidence Transparent signal score 45/100 · policy 1.0.0

   Found in pubmed · DOI 10.1212/nxi.0000000000200627

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   • not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
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   • not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
   • supportingOpen access status: Normalized open-access status: open. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
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   • not scoredPublication version: A publication version was supplied but is not scored. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
   • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer

6. Long-read sequencing and next-generation CRISPR editors: a unified pipeline for rare disease precision medicine with ethical and regulatory perspectives.

   Konamveettil Abdul Latheef A, Ali M, Farahat O, Gourari F · 2026 · Frontiers in medicine

   limited evidence Transparent signal score 45/100 · policy 1.0.0

   Found in pubmed · DOI 10.3389/fmed.2026.1859881

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   • not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
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   • not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
   • supportingOpen access status: Normalized open-access status: open. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
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   • not scoredPublication version: A publication version was supplied but is not scored. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
   • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer

7. Advances in Primary Mitochondrial Diseases: Diagnosis, Natural History Studies and Clinical Trials.

   Lim AZ, Moe AM, Stefanetti RJ, Ng YS · 2026 · Genes

   limited evidence Transparent signal score 45/100 · policy 1.0.0

   Found in pubmed · DOI 10.3390/genes17080850

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   • supportingOpen access status: Normalized open-access status: open. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
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   • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer

8. Identification and Validation of Plasma Protein Biomarkers for Abdominal Aortic Aneurysm Using Integrated Proteomics.

   Ma H, Gao J, Cai Y, Xie Z · 2026 · International journal of molecular sciences

   limited evidence Transparent signal score 45/100 · policy 1.0.0

   Found in pubmed · DOI 10.3390/ijms27167312

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   • not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
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   • supportingOpen access status: Normalized open-access status: open. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
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   • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer

9. Population-scale detection of methylation outliers from long-read genome sequencing.

   Jensen TD, Kaur R, Bonner DE, Nguyen J · 2026 · medRxiv : the preprint server for health sciences

   limited evidence Transparent signal score 45/100 · policy 1.0.0

   Found in pubmed · DOI 10.64898/2026.06.09.26355279

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   • not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
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   • not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
   • supportingOpen access status: Normalized open-access status: open. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
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   • not scoredPublication version: A publication version was supplied but is not scored. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
   • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer

10. Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.

    Sanchis-Juan A, Mostovoy Y, Stenton SL, Ganesh VS · 2026 · medRxiv : the preprint server for health sciences

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in pubmed · DOI 10.64898/2026.06.22.26356238

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    • not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
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    • not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
    • supportingOpen access status: Normalized open-access status: open. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
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    • not scoredPublication version: A publication version was supplied but is not scored. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer