Skip to content
DraconiticResearch
Search Sources API
203,203 studies31 sourcesUpdated 10 min ago
PreprintAll rights reservedbioRxiv

In vitro pathogenicity evaluation of deep intronic variants for recessive genetic retinal diseases

  • M. Weener1
  • K. Valestil
  • E. Place
  • S. Mehrotra
  • D. Navarro
  • H. Scott
  • K. Bujakowska
  • E. Pierce
  1. 1Ocular Genomics Institute Mass Eye and Ear Harvard Medical School
Read full textPDFDOICite

Related

  1. Deep-intronic variants in USH2A: the importance of model selection in variant interpretation and pathogenicity assessment
    K. Rodenburg, R. T. W. Schellens, S. Broekman +19
    bioRxivPreprintAll rights reservedFull textGenetics & genomicsbioRxiv
  2. MetaSplice: pathogenicity prediction and ACMG/AMP evidence for intronic variants outside the canonical splice sites
    X. Liu
    bioRxivPreprintCC BYFull textGenetics & genomicsbioRxiv
  3. Cutaneous features of SDR9C7 variants in eight individuals with autosomal recessive nonsyndromic epidermal differentiation disorders
    Caroline Echeandia-Francis, Angela J Luo, Xingyuan Jiang +6
    Clinical and Experimental DermatologyPeer-reviewedPublisher termsFull textGenetics & genomicsPMC
  4. Pathogenicity of NUSAP1 Variants Is Defined by NMD‐Escape: Evidence From Two Novel Cases and Systematic Population‐Based Variant Analysis
    Maureen Jacob, Susann Badmann, Stefania Bigoni +13
    Clinical GeneticsPeer-reviewedCC BY 4.0Full textGenetics & genomicsPMC
  5. Molecular characterization and pathogenicity stratification of YWHAG missense variants in developmental and epileptic encephalopathy.
    Wen-Hui Liu, Juan Zhou, Zhong-Yan Zhu +4
    Frontiers in geneticsPeer-reviewedCC BYFull textGenetics & genomicsEurope PMC

Cite

BibTeXRIS
BibTeX
@misc{weener2026vitro,
  title = {{In vitro pathogenicity evaluation of deep intronic variants for recessive genetic retinal diseases}},
  author = {M. Weener and K. Valestil and E. Place and S. Mehrotra and D. Navarro and H. Scott and K. Bujakowska and E. Pierce},
  howpublished = {bioRxiv},
  year = {2026},
  month = sep,
  doi = {10.64898/2026.09.18.752412},
  url = {https://www.biorxiv.org/content/10.64898/2026.09.18.752412v1},
}
RIS
TY  - UNPB
TI  - In vitro pathogenicity evaluation of deep intronic variants for recessive genetic retinal diseases
AU  - M. Weener
AU  - K. Valestil
AU  - E. Place
AU  - S. Mehrotra
AU  - D. Navarro
AU  - H. Scott
AU  - K. Bujakowska
AU  - E. Pierce
PY  - 2026
DA  - 2026/09/18
PB  - bioRxiv
DO  - 10.64898/2026.09.18.752412
UR  - https://www.biorxiv.org/content/10.64898/2026.09.18.752412v1
ER  -