Genetics in Medicine Open (Jan 2024)
P610: Identification of trinucleotide repeat expansions in DMPK using rapid whole genome sequencing
- Lucia Guidugli,
- Monia Hammer,
- Bryant Cao,
- Joseph Shen,
- Daniel Rito,
- Claire Botsford,
- David Chitayat,
- Jerica Lenberg,
- Kristen Wigby,
- Kelly Watkins,
- Stephen Kingsmore,
- Mari Tokita
Affiliations
- Lucia Guidugli
- Rady Children’s Institute for Genomic Medicine, San Diego, CA
- Monia Hammer
- Rady Children’s Institute for Genomic Medicine, San Diego, CA
- Bryant Cao
- Rady Children’s Institute for Genomic Medicine, San Diego, CA
- Joseph Shen
- UC Davis MIND Institute, Sacramento, CA
- Daniel Rito
- Henry Ford Medical Center, Detroit, MI
- Claire Botsford
- Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada
- David Chitayat
- Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada
- Jerica Lenberg
- Rady Children’s Institute for Genomic Medicine, San Diego, CA
- Kristen Wigby
- Division of Genomic Medicine, UC Davis MIND Institute, Sacramento, CA
- Kelly Watkins
- Rady Children’s Institute for Genomic Medicine, San Diego, CA
- Stephen Kingsmore
- Rady Children’s Institute for Genomic Medicine, San Diego, CA
- Mari Tokita
- Rady Children’s Institute for Genomic Medicine, San Diego, CA
- Journal volume & issue
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Vol. 2
p. 101516