Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss Article Swipe
Mayher Patel
,
Marina T. DiStefano
,
Andrea M. Oza
,
Madeline Y. Hughes
,
Emma H. Wilcox
,
Sarah E. Hemphill
,
Brandon J. Cushman
,
Andrew R. Grant
,
Rebecca K. Siegert
,
Jun Shen
,
Alex Chapin
,
Nicole J. Boczek
,
Lisa A. Schimmenti
,
Kiyomitsu Nara
,
Margaret A. Kenna
,
Héla Azaiez
,
Kevin T. Booth
,
Karen B. Avraham
,
Hannie Kremer
,
Andrew J. Griffith
,
Heidi L. Rehm
,
Sami S. Amr
,
Ahmad Abou Tayoun
,
Sonia Abdelhak
,
John Alexander
,
Zippora Brownstein
,
Rachel Burt
,
Byung Yoon Choi
,
Lilian Downie
,
Thomas B. Friedman
,
Anne B.S. Giersch
,
John H. Greinwald
,
Jeffrey T. Holt
,
Makoto Hosoya
,
Un‐Kyung Kim
,
Ian D. Krantz
,
Suzanne M. Leal
,
Saber Masmoudi
,
Tatsuo Matsunaga
,
Matías Morin
,
Cynthia C. Morton
,
Hideki Mutai
,
Arti Pandya
,
Richard J. Smith
,
Mustafa Tekin
,
Shin‐ichi Usami
,
Guy Van Camp
,
Kazuki Yamazawa
,
Huijun Yuan
,
Elizabeth Black-Zeigelbein
,
Kejian Zhang
·
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.1038/s41436-021-01254-2
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.1038/s41436-021-01254-2
Related Topics
Concepts
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1038/s41436-021-01254-2
- OA Status
- green
- Cited By
- 42
- References
- 15
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W3177891453
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W3177891453Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1038/s41436-021-01254-2Digital Object Identifier
- Title
-
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing lossWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2021Year of publication
- Publication date
-
2021-07-06Full publication date if available
- Authors
-
Mayher Patel, Marina T. DiStefano, Andrea M. Oza, Madeline Y. Hughes, Emma H. Wilcox, Sarah E. Hemphill, Brandon J. Cushman, Andrew R. Grant, Rebecca K. Siegert, Jun Shen, Alex Chapin, Nicole J. Boczek, Lisa A. Schimmenti, Kiyomitsu Nara, Margaret A. Kenna, Héla Azaiez, Kevin T. Booth, Karen B. Avraham, Hannie Kremer, Andrew J. Griffith, Heidi L. Rehm, Sami S. Amr, Ahmad Abou Tayoun, Sonia Abdelhak, John Alexander, Zippora Brownstein, Rachel Burt, Byung Yoon Choi, Lilian Downie, Thomas B. Friedman, Anne B.S. Giersch, John H. Greinwald, Jeffrey T. Holt, Makoto Hosoya, Un‐Kyung Kim, Ian D. Krantz, Suzanne M. Leal, Saber Masmoudi, Tatsuo Matsunaga, Matías Morin, Cynthia C. Morton, Hideki Mutai, Arti Pandya, Richard J. Smith, Mustafa Tekin, Shin‐ichi Usami, Guy Van Camp, Kazuki Yamazawa, Huijun Yuan, Elizabeth Black-Zeigelbein, Kejian ZhangList of authors in order
- Landing page
-
https://doi.org/10.1038/s41436-021-01254-2Publisher landing page
- Open access
-
YesWhether a free full text is available
- OA status
-
greenOpen access status per OpenAlex
- OA URL
-
https://www.ncbi.nlm.nih.gov/pmc/articles/8556313Direct OA link when available
- Concepts
-
Hearing loss, Disease, Sequence (biology), Medicine, Audiology, Bioinformatics, Genetics, Computational biology, Pediatrics, Biology, Internal medicineTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
42Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 11, 2024: 17, 2023: 5, 2022: 8, 2021: 1Per-year citation counts (last 5 years)
- References (count)
-
15Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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