1. Last 7 days
  2. www.sciencedirect.com www.sciencedirect.com
    Engineered receptor-biased IL-2–drug immunoconjugates selectively expand Tregs and suppress effector cells for autoimmune therapy
    57
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    sciencedirect.com/science/article/pii/S2666379126005446
  3. www.nature.com www.nature.com
    Cathepsin K gene mutations and 1q21 haplotypes in at patients with pycnodysostosis in an outbred population
    1
    1. ClingenBaseline 06 Nov 2026
      926T > C and 121–1G > A in one case

      Case: Haagerup II:8

      CasePresentingHPOs:

      CasePresentingHPOsFreeText: not specified

      CaseNOTHPOs:

      CaseNOTHPOSFreeText: not specified

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variants: c926T>C and c121-1G>A

      ClinVarID: or CAID: ClinVarID: 8426; ClinVarID: 859435

      gnomAD: 2/129174 European (non-Finnish) alleles at a frequency of 0.00001548 with no homozygotes; 4/112000 European (non-Finnish) alleles at a frequency of 0.00003571 with no homozygotes

      AddCaseInfo:

      PreviouslyPublished: no

      VariantEvidence: predicted but variant was proven to segregate with disease; predicted to delete all of exon 3

      CaseInfo Individual inferred_gene_hgnc:2536 inferred_gene_source:ClinVar UNC Biocuration Core
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    nature.com/articles/5200481
  4. www-ncbi-nlm-nih-gov.libproxy.lib.unc.edu www-ncbi-nlm-nih-gov.libproxy.lib.unc.edu
    Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I
    1
    1. ClingenBaseline 06 Nov 2026
      4H-Sc.236C>T (p.A79V)c.1882C>T (p.R628*)This report

      Case#: Kwak Patient #4, 2yo at dx

      DiseaseAssertion: Hurler-Scheie

      FamilyInfo:

      CasePresentingHPOs: HP:0000280, HP:0007957, HP:0100790, HP:0000924, HP:0001627, HP:0001433

      CaseHPOFreeText: IDUA activity=6.5 nmol/mg protein/hr, uGAGs=202.8 CPC unit/g creatinine

      CaseNotHPOs:

      CaseNotHPOFreeText:

      PreviouslyPublished:

      Variant: c.236C>T (p.A79V); c.1882C>T (p.R628*)-Path in ClinVar

      ClinVar: 1458769; 550421

      CAID:

      SupplementalData: supplemental file contains phenotype information

      CaseInfo Individual Variant:236C>T MultipleVariants ClinVarID: 550421 inferred_gene_hgnc:5391 inferred_gene_source:ClinVar UNC Biocuration Core
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    www-ncbi-nlm-nih-gov.libproxy.lib.unc.edu/pmc/articles/PMC4983032/
  5. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC5413020/
  6. www.sciencedirect.com www.sciencedirect.com
    Interpretable deep learning maps spatial morphological phenotypes to HCC and LUAD survival
    11
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    sciencedirect.com/science/article/pii/S2666379126005434
  7. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome
    2
    1. ClingenBaseline 06 Nov 2026
      Ten of our patients were homozygous to the previously reported c.336C>G founder mutation

      These 10 patients include 8 that are explicitly stated to have been previously published (PMID: 22405087). The remaining 2 are not explicitly noted to have been previously published, but the first author from the other publication (Abela, PMID 28463998) is listed as an author on this paper, the probands are siblings from Israeli origin, and have the same age gap as in the other paper. Not scoring since these patients are likely previously published

      PreviouslyPublished ClinVarID:29584 inferred_gene_hgnc:118 inferred_gene_source:ClinVar UNC Biocuration Core
    2. ClingenBaseline 06 Nov 2026
      Here, we report an international multicenter cohort of 16 patients (of whom 7 are newly diagnosed) with biallelic pathogenic variants in ACO2 gene.

      Sharkia Proband A-3, onset at 5 weeks old, 5yo at report, Caucasian, American, male. Patient A3 has

      Variant: c.590A>G and c.172C>T

      CaseHPO: HP:0001252, HP:0001251, HP:0001250, HP:0002120, HP:0001272, HP:0000648, HP:0000512, HP:0012736, HP:0001508, HP:0000252, HP:0030890

      CaseInfo Individual ClinVarID:441075 inferred_gene_hgnc:118 inferred_gene_source:ClinVar UNC Biocuration Core
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    pubmed.ncbi.nlm.nih.gov/30689204/
  8. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis
    1
    1. ClingenBaseline 06 Nov 2026
      The ethnic background of these families was as follows: northern European (two), Czech, Spanish, Portuguese (two), Indian, and Honduran. Genomic DNA was extracted from blood leukocytes using the Puregene Genomic DNA Isolation kit (Gentra Systems, Minneapolis, Minnesota). Exons 2–8 of the cathepsin K gene (14) were amplified from genomic DNA of Pycno patients by PCR, isolated, and sequenced by cycle sequencing with an ABI 377 Sequencer (Perkin-Elmer Corp., Norwalk, Conneticut, USA).

      Case: Family 2

      CasePresentingHPOs:

      CasePresentingHPOsFreeText: not specified

      CaseNOTHPOs:

      CaseNOTHPOSFreeText: not specified

      CasePreviousTesting: none

      CaseGenotypingMethod: Exons 2-8 were amplified by PCR and sequenced.

      Variant: Q190X

      ClinVarID: or CAID: ClinVarID: 371328

      gnomAD: The variant is reported in 1/30616 South Asian alleles at a frequency of 0.00003266, with no homozygotes in gnomAD v2.1.1.

      AddCaseInfo:

      PreviouslyPublished:

      VariantEvidence: none

      Individual CaseInfo inferred_gene_hgnc:2536 inferred_gene_source:ClinVar UNC Biocuration Core
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    ncbi.nlm.nih.gov/pmc/articles/PMC408114/
  9. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The population genetics of human disease: The case of recessive, lethal mutations
    2
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    ncbi.nlm.nih.gov/pmc/articles/PMC5619689/
  10. www.sciencedirect.com www.sciencedirect.com
    Electroconductive patch promotes heart repair by directing epicardial cells toward endothelial fate
    29
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    sciencedirect.com/science/article/pii/S1934590926003875
  11. www.ahajournals.org www.ahajournals.org
    Lack of Phenotypic Differences by Cardiovascular Magnetic Resonance Imaging in MYH7 (β-Myosin Heavy Chain)- Versus MYBPC3 (Myosin-Binding Protein C)-Related Hypertrophic Cardiomyopathy | Circulation: Cardiovascular Imaging
    2
    1. ClingenBaseline 06 Nov 2026

      Case#: Consequence 8 Table 1 in Data Supplement (1 cases)

      DiseaseAssertion: HCM

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Cardiac magnetic resonance imaging, BSA, NYHA functional class, obstructive HCM, atrial fibrillation, coronary artery disease, NSVT, Syncope, SCD family hitory, wall thickness

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: Additional oligonucleotide hybridization–based DNA sequencing and dideoxy-based DNA sequencing for MYBPC3, TMP1, TNNC1, TNNI2, TNNI3, TNNT2, ACTC1, MYL3

      CaseGenotypingMethod: oligonucleotide hybridization–based DNA sequencing and dideoxy-based DNA sequencing

      Variant: NM_000257.4(MYH7):c.2539A>G (p.Lys847Glu)

      ClinVar: 177757 https://www.ncbi.nlm.nih.gov/clinvar/variation/177757/

      CAID: n/a

      gnomAD: absent

      CaseInfo Individual InheritancePattern:AutosomalDominant DiseaseEntity:HCM PreviousTesting:Additional SupplementalData ClinVarID:177757 Mutation:Germline PreviousTesting:Full inferred_gene_hgnc:7577 inferred_gene_source:ClinVar UNC Biocuration Core
    2. ClingenBaseline 06 Nov 2026

      Case#: Consequence 2 Table 1 in Data Supplement (1 case)

      DiseaseAssertion: HCM

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Cardiac magnetic resonance imaging, BSA, NYHA functional class, obstructive HCM, atrial fibrillation, coronary artery disease, NSVT, Syncope, SCD family hitory, wall thickness

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: Additional oligonucleotide hybridization–based DNA sequencing and dideoxy-based DNA sequencing for MYBPC3, TMP1, TNNC1, TNNI2, TNNI3, TNNT2, ACTC1, MYL3

      CaseGenotypingMethod: oligonucleotide hybridization–based DNA sequencing and dideoxy-based DNA sequencing

      Variant: NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)

      ClinVar: 36642 https://www.ncbi.nlm.nih.gov/clinvar/variation/36642/

      CAID: n/a

      gnomAD: 0.00004657 European (non-Finnish) https://gnomad.broadinstitute.org/variant/14-23884860-C-T

      Individual CaseInfo InheritancePattern:AutosomalDominant DiseaseEntity:HCM PreviousTesting:Additional SupplementalData ClinVarID:36642 Mutation:Germline PreviousTesting:Full inferred_gene_hgnc:7577 inferred_gene_source:RefSeq UNC Biocuration Core
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    ahajournals.org/doi/full/10.1161/CIRCIMAGING.116.005311
  12. www.sciencedirect.com www.sciencedirect.com
    Niche-reprogramming CAR T therapy improves skeletal muscle regeneration and function in preclinical murine models of Duchenne muscular dystrophy
    3
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    sciencedirect.com/science/article/pii/S1934590926003851
  13. www.sciencedirect.com www.sciencedirect.com
    EPCR expression marks CD150neg deeply dormant long-term hematopoietic stem cells
    29
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    sciencedirect.com/science/article/pii/S1934590926003802
  14. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC7318087/
  15. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    ACO2 clinicobiological dataset with extensive phenotype ontology annotation
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC8342444/
  16. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    2-deoxy-2-[18]fluoro-D-glucose PET/CT (18FDG PET/CT) may not be a viable biomarker in Pompe disease
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC5845361/
  17. www.sciencedirect.com www.sciencedirect.com
    Generation of four human induced pluripotent stem cell lines from dermal fibroblasts of healthy female donor
    5
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    sciencedirect.com/science/article/pii/S1873506126002230
  18. www.sciencedirect.com www.sciencedirect.com
    Curcumin and nutrient deprivation: enhanced cytotoxic effects in luminal breast cancer cells through metabolic vulnerability
    2
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    sciencedirect.com/science/article/pii/S0254629926006022
  19. www.sciencedirect.com www.sciencedirect.com
    Anti-Müllerian hormone protects human ovarian follicles and stroma from cyclophosphamide-induced DNA damage and apoptosis in vitro
    3
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    sciencedirect.com/science/article/pii/S1472648326006073
  20. www.sciencedirect.com www.sciencedirect.com
    Cornuside regulates P2X7r-NLRP3 signaling pathway through the E3 ubiquitin ligase NEDD4 to improve radiation-induced liver fibrosis
    1
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    sciencedirect.com/science/article/pii/S094471132601130X
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    Trait-linked brainstem circuit resilience balances tau pathology-induced cellular vulnerability in Alzheimer’s disease
    5
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    sciencedirect.com/science/article/pii/S0896627326007725
  22. www.sciencedirect.com www.sciencedirect.com
    Glioma regulates GABAergic signaling to drive hyperactivity and tumor progression
    33
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    sciencedirect.com/science/article/pii/S0896627326007713
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    Remak bundle size, structure, and function are regulated by the Schwann cell basal lamina
    9
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    sciencedirect.com/science/article/pii/S0896627326007440