Implementation of exome sequencing for rare undiagnosed diseases in LMICs: the G2MC rare diseases exome sequencing pilot project

Yasas D. Kolambage, Claudia Gonzaga-Jauregui, Guillermo Lay-Son, Rupesh Mishra, Njabulo Christian Mabaso, Sok-Kun Tae, Kristin A. Maloney, Carolina I. Galaz-Montoya, Dineshani Hettiarachchi, Bronwyn Dillon, Nilam Thakur, Ludivine de Menten, Cecilia Mellado, Carol L. Greene, Toni I. Pollin, Amanda Krause, Meow-Keong Thong, Alan R. Shuldiner, Vajira H. W. Dissanayake

Open source

DOI: 10.1007/s00439-026-02849-y
Published: 2026-07-08
Container: Human Genetics
Publisher: Springer Science and Business Media LLC
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1007/s00439-026-02849-y,
  title = {Implementation of exome sequencing for rare undiagnosed diseases in LMICs: the G2MC rare diseases exome sequencing pilot project},
  author = {Yasas D. Kolambage and Claudia Gonzaga-Jauregui and Guillermo Lay-Son and Rupesh Mishra and Njabulo Christian Mabaso and Sok-Kun Tae and Kristin A. Maloney and Carolina I. Galaz-Montoya and Dineshani Hettiarachchi and Bronwyn Dillon and Nilam Thakur and Ludivine de Menten and Cecilia Mellado and Carol L. Greene and Toni I. Pollin and Amanda Krause and Meow-Keong Thong and Alan R. Shuldiner and Vajira H. W. Dissanayake},
  year = {2026},
  journal = {Human Genetics},
  doi = {10.1007/s00439-026-02849-y},
  url = {https://doi.org/10.1007/s00439-026-02849-y}
}

RIS

TY  - JOUR
TI  - Implementation of exome sequencing for rare undiagnosed diseases in LMICs: the G2MC rare diseases exome sequencing pilot project
AU  - Yasas D. Kolambage
AU  - Claudia Gonzaga-Jauregui
AU  - Guillermo Lay-Son
AU  - Rupesh Mishra
AU  - Njabulo Christian Mabaso
AU  - Sok-Kun Tae
AU  - Kristin A. Maloney
AU  - Carolina I. Galaz-Montoya
AU  - Dineshani Hettiarachchi
AU  - Bronwyn Dillon
AU  - Nilam Thakur
AU  - Ludivine de Menten
AU  - Cecilia Mellado
AU  - Carol L. Greene
AU  - Toni I. Pollin
AU  - Amanda Krause
AU  - Meow-Keong Thong
AU  - Alan R. Shuldiner
AU  - Vajira H. W. Dissanayake
PY  - 2026
JO  - Human Genetics
DO  - 10.1007/s00439-026-02849-y
UR  - https://doi.org/10.1007/s00439-026-02849-y
ER  -

APA

Kolambage, Y. D., Gonzaga-Jauregui, C., Lay-Son, G., Mishra, R., Mabaso, N. C., Tae, S., Maloney, K. A., Galaz-Montoya, C. I., Hettiarachchi, D., Dillon, B., Thakur, N., Menten, L. D., Mellado, C., Greene, C. L., Pollin, T. I., Krause, A., Thong, M., Shuldiner, A. R., & Dissanayake, V. H. W. (2026). Implementation of exome sequencing for rare undiagnosed diseases in LMICs: the G2MC rare diseases exome sequencing pilot project. Human Genetics. https://doi.org/10.1007/s00439-026-02849-y

Source records

crossref · retrieved 2026-09-27T10:02:43.813Z