Skip to content
DraconiticResearch
Search Sources API
203,203 studies31 sourcesUpdated 5 min ago
PreprintAll rights reservedmedRxiv

Multi-omics approach to map a clinically diverse large cohort with homozygous founder RAG1 p.C176F variant among Old Order Mennonites

  • E. Potts
  • M. Toth
  • K. W. Brigatti
  • E. G. Puffenberger
  • P. R. Suhet
  • M. Talib
  • A. E. Koehler
  • Z. Gaal
  • K. A. Larsen
  • R. Z. Miller
  • D. J. Gibson
  • P. Mendez
30 more authors
  • Z. An
  • J. J. Bednarski
  • P. Blazso
  • M. Bosticardo
  • S. Chandra
  • I. K. Chinn
  • J. W. Clark
  • A. Condino-Neto
  • O. M. Delmonte
  • D. Dimitrova
  • E. S. J. Edwards
  • G. V. Halade
  • J. R. Heimall
  • A. Hendel
  • S. E. Henrickson
  • K. E. Herman
  • A. Joshi
  • H. Kenney
  • M. Kitcharoensakkul
  • G. Magro
  • E. C. Martin
  • E. B. Oliveira-Junior
  • M.-S. Ong
  • O. E. Ospina
  • F. Pala
  • K. Palmer
  • J. P. Raasch
  • M. Salamon
  • C. D. Scharer
  • Sero
Read full textPDFDOICite

Related

  1. A Novel Homozygous Variant Associated With Distinct Clinical Phenotypes of SDR9C7 Nonsyndromic Epidermal Differentiation Disorder in Two Affected Patients From a Consanguineous Saudi Family
    Faisal Almalki, Zaker Khoj, Essa Alharbi +1
    Molecular genetics & genomic medicinePeer-reviewedCC BY-NCFull textGenetics & genomicsEurope PMC
  2. Characterization of a novel homozygous CTLA4 variant.
    Tegan McTaggart, Jing Xuan Lim, Arda Akchengel +8
    Journal of human immunityPeer-reviewedCC BYFull textImmunologyEurope PMC
  3. A Rare Homozygous Synonymous Variant in the ECM1 Gene in a Lipoid Proteinosis Patient.
    Metehan Simsek, Husna Topcu, Kubra Serefoglu Cabuk +5
    Beyoglu eye journalPeer-reviewedCC BY-NCFull textGenetics & genomicsEurope PMC
  4. A homozygous variant in the GJB2 gene as a potential phenocopy of Waardenburg syndrome: case report.
    Yuehua Wu, Yupeng Chen, Zimeng Guo +3
    Frontiers in medicinePeer-reviewedCC BYFull textNeuroscienceEurope PMC
  5. Cockayne Syndrome Phenotype in a Sudanese Child With a Homozygous ERCC8 Splice-Site Variant of Uncertain Significance: A Case Report
    Fatma Ragab, Alaa Alhag
    CureusPeer-reviewedCC BYFull textGenetics & genomicsNeurologyEurope PMCPMC

Cite

BibTeXRIS
BibTeX
@misc{potts2026multiomics,
  title = {{Multi-omics approach to map a clinically diverse large cohort with homozygous founder RAG1 p.C176F variant among Old Order Mennonites}},
  author = {E. Potts and M. Toth and K. W. Brigatti and E. G. Puffenberger and P. R. Suhet and M. Talib and A. E. Koehler and Z. Gaal and K. A. Larsen and R. Z. Miller and D. J. Gibson and P. Mendez and Z. An and J. J. Bednarski and P. Blazso and M. Bosticardo and S. Chandra and I. K. Chinn and J. W. Clark and A. Condino-Neto and O. M. Delmonte and D. Dimitrova and E. S. J. Edwards and G. V. Halade and J. R. Heimall and A. Hendel and S. E. Henrickson and K. E. Herman and A. Joshi and H. Kenney and M. Kitcharoensakkul and G. Magro and E. C. Martin and E. B. Oliveira-Junior and M.-S. Ong and O. E. Ospina and F. Pala and K. Palmer and J. P. Raasch and M. Salamon and C. D. Scharer and Sero},
  howpublished = {medRxiv},
  year = {2026},
  month = sep,
  doi = {10.64898/2026.09.29.26363255},
  url = {https://www.medrxiv.org/content/10.64898/2026.09.29.26363255v1},
}
RIS
TY  - UNPB
TI  - Multi-omics approach to map a clinically diverse large cohort with homozygous founder RAG1 p.C176F variant among Old Order Mennonites
AU  - E. Potts
AU  - M. Toth
AU  - K. W. Brigatti
AU  - E. G. Puffenberger
AU  - P. R. Suhet
AU  - M. Talib
AU  - A. E. Koehler
AU  - Z. Gaal
AU  - K. A. Larsen
AU  - R. Z. Miller
AU  - D. J. Gibson
AU  - P. Mendez
AU  - Z. An
AU  - J. J. Bednarski
AU  - P. Blazso
AU  - M. Bosticardo
AU  - S. Chandra
AU  - I. K. Chinn
AU  - J. W. Clark
AU  - A. Condino-Neto
AU  - O. M. Delmonte
AU  - D. Dimitrova
AU  - E. S. J. Edwards
AU  - G. V. Halade
AU  - J. R. Heimall
AU  - A. Hendel
AU  - S. E. Henrickson
AU  - K. E. Herman
AU  - A. Joshi
AU  - H. Kenney
AU  - M. Kitcharoensakkul
AU  - G. Magro
AU  - E. C. Martin
AU  - E. B. Oliveira-Junior
AU  - M.-S. Ong
AU  - O. E. Ospina
AU  - F. Pala
AU  - K. Palmer
AU  - J. P. Raasch
AU  - M. Salamon
AU  - C. D. Scharer
AU  - Sero
PY  - 2026
DA  - 2026/09/29
PB  - medRxiv
DO  - 10.64898/2026.09.29.26363255
UR  - https://www.medrxiv.org/content/10.64898/2026.09.29.26363255v1
ER  -