A novel missense
 TUBB4B
 variant outside of the canonical hotspot is associated with cone-rod dystrophy and sensorineural hearing loss

Lauren Y. Cao; Anna Duemler; Emily H. Jung; Ramiro S. Maldonado; Sarah Richards; Elena R. Schiff; Omar A. Mahroo; Andrew R. Webster; Siying Lin; Beau J. Fenner; Alessandro Iannaccone; Oleg Alekseev

doi:10.1080/13816810.2025.2565651

A novel missense TUBB4B variant outside of the canonical hotspot is associated with cone-rod dystrophy and sensorineural hearing loss

Lauren Y. Cao, Anna Duemler, Emily H. Jung, Ramiro S. Maldonado, Sarah Richards, Elena R. Schiff, Omar A. Mahroo, Andrew R. Webster, Siying Lin, Beau J. Fenner, Alessandro Iannaccone, Oleg Alekseev

Division of Evolution, Infection and Genomics

Research output: Contribution to journal › Article › peer-review

Original language	English
Journal	Ophthalmic Genetics
DOIs	https://doi.org/10.1080/13816810.2025.2565651
Publication status	Published - 7 Oct 2025

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10.1080/13816810.2025.2565651

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Cao, L. Y., Duemler, A., Jung, E. H., Maldonado, R. S., Richards, S., Schiff, E. R., Mahroo, O. A., Webster, A. R., Lin, S., Fenner, B. J., Iannaccone, A., & Alekseev, O. (2025). A novel missense TUBB4B variant outside of the canonical hotspot is associated with cone-rod dystrophy and sensorineural hearing loss. Ophthalmic Genetics. https://doi.org/10.1080/13816810.2025.2565651

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title = "A novel missense TUBB4B variant outside of the canonical hotspot is associated with cone-rod dystrophy and sensorineural hearing loss",

author = "Cao, \{Lauren Y.\} and Anna Duemler and Jung, \{Emily H.\} and Maldonado, \{Ramiro S.\} and Sarah Richards and Schiff, \{Elena R.\} and Mahroo, \{Omar A.\} and Webster, \{Andrew R.\} and Siying Lin and Fenner, \{Beau J.\} and Alessandro Iannaccone and Oleg Alekseev",

year = "2025",

month = oct,

day = "7",

doi = "10.1080/13816810.2025.2565651",

language = "English",

journal = "Ophthalmic Genetics",

issn = "1381-6810",

publisher = "Taylor \& Francis",

}

Cao, LY, Duemler, A, Jung, EH, Maldonado, RS, Richards, S, Schiff, ER, Mahroo, OA, Webster, AR, Lin, S, Fenner, BJ, Iannaccone, A & Alekseev, O 2025, 'A novel missense TUBB4B variant outside of the canonical hotspot is associated with cone-rod dystrophy and sensorineural hearing loss', Ophthalmic Genetics. https://doi.org/10.1080/13816810.2025.2565651

TY - JOUR

T1 - A novel missense TUBB4B variant outside of the canonical hotspot is associated with cone-rod dystrophy and sensorineural hearing loss

AU - Cao, Lauren Y.

AU - Duemler, Anna

AU - Jung, Emily H.

AU - Maldonado, Ramiro S.

AU - Richards, Sarah

AU - Schiff, Elena R.

AU - Mahroo, Omar A.

AU - Webster, Andrew R.

AU - Lin, Siying

AU - Fenner, Beau J.

AU - Iannaccone, Alessandro

AU - Alekseev, Oleg

PY - 2025/10/7

Y1 - 2025/10/7

UR - http://dx.doi.org/10.1080/13816810.2025.2565651

UR - https://www.scopus.com/pages/publications/105018828215

U2 - 10.1080/13816810.2025.2565651

DO - 10.1080/13816810.2025.2565651

M3 - Article

SN - 1381-6810

JO - Ophthalmic Genetics

JF - Ophthalmic Genetics

ER -

A novel missense <i>TUBB4B</i> variant outside of the canonical hotspot is associated with cone-rod dystrophy and sensorineural hearing loss

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