Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene

Justin A. Pater, Cindy Penney, Darren D. O’Rielly, Anne Griffin, Lara Kamal, Zippora Brownstein, Barbara Vona, Chana Vinkler, Mordechai Shohat, Ortal Barel, Curtis R. French, Sushma Singh, Salem Werdyani, Taylor Burt, Nelly Abdelfatah, Jim Houston, Lance P. Doucette, Jessica Squires, Fabian Glaser, Nicole M. Roslin, Daniel Vincent, Pascale Marquis, Geoffrey Woodland, Touati Benoukraf, Alexia Hawkey-Noble, Karen B. Avraham, Susan G. Stanton, Terry-Lynn Young

Open source

DOI: 10.1007/s00439-022-02444-x
Published: 2022-03-12
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/s00439-022-02444-x,
  title = {Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene},
  author = {Justin A. Pater and Cindy Penney and Darren D. O’Rielly and Anne Griffin and Lara Kamal and Zippora Brownstein and Barbara Vona and Chana Vinkler and Mordechai Shohat and Ortal Barel and Curtis R. French and Sushma Singh and Salem Werdyani and Taylor Burt and Nelly Abdelfatah and Jim Houston and Lance P. Doucette and Jessica Squires and Fabian Glaser and Nicole M. Roslin and Daniel Vincent and Pascale Marquis and Geoffrey Woodland and Touati Benoukraf and Alexia Hawkey-Noble and Karen B. Avraham and Susan G. Stanton and Terry-Lynn Young},
  year = {2022},
  journal = {Human Genetics},
  doi = {10.1007/s00439-022-02444-x},
  url = {https://doi.org/10.1007/s00439-022-02444-x}
}

RIS

TY  - JOUR
TI  - Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene
AU  - Justin A. Pater
AU  - Cindy Penney
AU  - Darren D. O’Rielly
AU  - Anne Griffin
AU  - Lara Kamal
AU  - Zippora Brownstein
AU  - Barbara Vona
AU  - Chana Vinkler
AU  - Mordechai Shohat
AU  - Ortal Barel
AU  - Curtis R. French
AU  - Sushma Singh
AU  - Salem Werdyani
AU  - Taylor Burt
AU  - Nelly Abdelfatah
AU  - Jim Houston
AU  - Lance P. Doucette
AU  - Jessica Squires
AU  - Fabian Glaser
AU  - Nicole M. Roslin
AU  - Daniel Vincent
AU  - Pascale Marquis
AU  - Geoffrey Woodland
AU  - Touati Benoukraf
AU  - Alexia Hawkey-Noble
AU  - Karen B. Avraham
AU  - Susan G. Stanton
AU  - Terry-Lynn Young
PY  - 2022
JO  - Human Genetics
DO  - 10.1007/s00439-022-02444-x
UR  - https://doi.org/10.1007/s00439-022-02444-x
ER  -

APA

Pater, J. A., Penney, C., O’Rielly, D. D., Griffin, A., Kamal, L., Brownstein, Z., Vona, B., Vinkler, C., Shohat, M., Barel, O., French, C. R., Singh, S., Werdyani, S., Burt, T., Abdelfatah, N., Houston, J., Doucette, L. P., Squires, J., Glaser, F., Roslin, N. M., Vincent, D., Marquis, P., Woodland, G., Benoukraf, T., Hawkey-Noble, A., Avraham, K. B., Stanton, S. G., & Young, T. (2022). Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene. Human Genetics. https://doi.org/10.1007/s00439-022-02444-x

Source records

crossref · retrieved 2026-09-26T11:23:45.263Z