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A way forward for diagnosis of patients with extremely rare genetic mutations

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References

  1. Crooke, S. T. Trends Mol. Med. 28, 87–96 (2022).

    Article  PubMed  Google Scholar 

  2. Crooke, S. T. Nat. Biotechnol. 39, 671–677 (2021).

    Article  CAS  PubMed  Google Scholar 

  3. Brokamp, E. et al. Genet. Med. 23, 1830–1832 (2021).

    Article  PubMed  Google Scholar 

  4. Cope, H. et al. Mol. Genet. Genomic Med. 8, e1397 (2020).

    Article  PubMed  PubMed Central  Google Scholar 

  5. Spillmann, R. C. et al. Orphanet J. Rare Dis. 12, 71 (2017).

    Article  PubMed  PubMed Central  Google Scholar 

  6. Sanders, S. J. et al. Trends Neurosci. 41, 442–456 (2018).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  7. Kruth, K. A., Grisolano, T. M., Ahern, C. A. & Williams, A. J. Mol. Autism 11, 23 (2020).

    Article  CAS  Google Scholar 

  8. Zeng, Q. et al. Front. Mol. Neurosci. 15, 809951 (2022).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  9. Begemann, A. et al. Mol. Med. 25, 6 (2019).

    Article  PubMed  PubMed Central  Google Scholar 

  10. Winquist, R. J. & Cohen, C. J. Biochem. Pharmacol. 151, 252–262 (2018).

    Article  CAS  PubMed  Google Scholar 

  11. Howell, D. et al. Ann. Oncol. 26, 1846–1858 (2015).

    Article  CAS  PubMed  Google Scholar 

  12. Gaily, E., Lommi, M., Lapatto, R. & Lehesjoki, A. E. Epilepsia 57, 1594–1601 (2016).

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. n-Lorem Foundation, Carlsbad, CA, USA

    Stanley T. Crooke

  2. University of California San Diego Department of Neurosciences, Rady Children’s Hospital Division of Pediatric Neurology, La Jolla, CA, USA

    Olivia S. Kim-McManus

  3. Praxis Precision Medicines, Boston, MA, USA

    Kelley Dalby

Authors
  1. Stanley T. Crooke
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  2. Olivia S. Kim-McManus
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  3. Kelley Dalby
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Contributions

S.T.C. was the primary author and reviewed all of the data mentioned. K.D. compiled a natural history of patient 001. O.S.K.-M. reviewed the manuscript and is the treating physician for patient 001.

Corresponding author

Correspondence to Stanley T. Crooke.

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Competing interests

S.C. is the founder, chairman and CEO of n-Lorem Foundation, a non-profit foundation devoted to meeting the needs of nano-rare patients. K.D. is associate director of natural history and diagnostics in epilepsy at Praxis Precision Medicines. O.K.-M. declares no competing interests.

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Crooke, S.T., Kim-McManus, O.S. & Dalby, K. A way forward for diagnosis of patients with extremely rare genetic mutations. Nat Biotechnol 41, 1190–1192 (2023). https://doi.org/10.1038/s41587-023-01879-5

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  • DOI: https://doi.org/10.1038/s41587-023-01879-5

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