Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.

Maria Solaki; Britta Baumann; Peggy Reuter; Sten Andreasson; Isabelle Audo; Carmen Ayuso; Ghassan Balousha; Francesco Benedicenti; David Birch; Pierre Bitoun; Delphine Blain; Beatrice Bocquet; Kari Branham; Jaume Català-Mora; Elfride De Baere; Helene Dollfus; Mohammed Falana; Roberto Giorda; Irina Golovleva; Irene Gottlob; John R Heckenlively; Samuel G Jacobson; Kaylie Jones; Herbert Jägle; Andreas R Janecke; Ulrich Kellner; Petra Liskova; Birgit Lorenz; Loreto Martorell-Sampol; André Messias; Isabelle Meunier; Fernanda Belga Ottoni Porto; Eleni Papageorgiou; Astrid S Plomp; Thomy J L de Ravel; Charlotte M Reiff; Agnes B Renner; Thomas Rosenberg; Günther Rudolph; Roberto Salati; E Cumhur Sener; Paul A Sieving; Franco Stanzial; Elias I Traboulsi; Stephen H Tsang; Balázs Varsanyi; Richard G Weleber; Ditta Zobor; Katarina Stingl; Bernd Wissinger; Susanne Kohl

doi:10.1002/humu.24371

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.

Maria Solaki, Britta Baumann, Peggy Reuter, Sten Andreasson, Isabelle Audo, Carmen Ayuso, Ghassan Balousha, Francesco Benedicenti, David Birch, Pierre Bitoun, Delphine Blain, Beatrice Bocquet, Kari Branham, Jaume Català-Mora, Elfride De Baere, Helene Dollfus, Mohammed Falana, Roberto Giorda, Irina Golovleva, Irene GottlobJohn R Heckenlively, Samuel G Jacobson, Kaylie Jones, Herbert Jägle, Andreas R Janecke, Ulrich Kellner, Petra Liskova, Birgit Lorenz, Loreto Martorell-Sampol, André Messias, Isabelle Meunier, Fernanda Belga Ottoni Porto, Eleni Papageorgiou, Astrid S Plomp, Thomy J L de Ravel, Charlotte M Reiff, Agnes B Renner, Thomas Rosenberg, Günther Rudolph, Roberto Salati, E Cumhur Sener, Paul A Sieving, Franco Stanzial, Elias I Traboulsi, Stephen H Tsang, Balázs Varsanyi, Richard G Weleber, Ditta Zobor, Katarina Stingl, Bernd Wissinger, Susanne Kohl

Krankenhaus Bozen

Research output: Contribution to journal › Review article › peer-review

11 Citations (Web of Science)

Original language	English
Pages (from-to)	832-858
Journal	HUMAN MUTATION
Volume	43
Issue number	7
DOIs	https://doi.org/10.1002/humu.24371
Publication status	Published - 2022

Keywords

UNFOLDED PROTEIN RESPONSE
NUCLEOTIDE-GATED CHANNELS
ALPHA-SUBUNIT
PHOTORECEPTOR DEGENERATION
TOTAL COLOURBLINDNESS
FUNCTIONAL-ANALYSIS
MOLECULAR-GENETICS
PAKISTANI FAMILIES
NONSENSE MUTATION
JAPANESE PATIENT

Access to Document

10.1002/humu.24371

Cite this

Solaki, M., Baumann, B., Reuter, P., Andreasson, S., Audo, I., Ayuso, C., Balousha, G., Benedicenti, F., Birch, D., Bitoun, P., Blain, D., Bocquet, B., Branham, K., Català-Mora, J., De Baere, E., Dollfus, H., Falana, M., Giorda, R., Golovleva, I., ... Kohl, S. (2022). Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia. HUMAN MUTATION , 43(7), 832-858. https://doi.org/10.1002/humu.24371

Solaki, Maria ; Baumann, Britta ; Reuter, Peggy et al. / Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia. In: HUMAN MUTATION 2022 ; Vol. 43, No. 7. pp. 832-858.

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author = "Maria Solaki and Britta Baumann and Peggy Reuter and Sten Andreasson and Isabelle Audo and Carmen Ayuso and Ghassan Balousha and Francesco Benedicenti and David Birch and Pierre Bitoun and Delphine Blain and Beatrice Bocquet and Kari Branham and Jaume Catal{\`a}-Mora and {De Baere}, Elfride and Helene Dollfus and Mohammed Falana and Roberto Giorda and Irina Golovleva and Irene Gottlob and Heckenlively, {John R} and Jacobson, {Samuel G} and Kaylie Jones and Herbert J{\"a}gle and Janecke, {Andreas R} and Ulrich Kellner and Petra Liskova and Birgit Lorenz and Loreto Martorell-Sampol and Andr{\'e} Messias and Isabelle Meunier and {Belga Ottoni Porto}, Fernanda and Eleni Papageorgiou and Plomp, {Astrid S} and {de Ravel}, {Thomy J L} and Reiff, {Charlotte M} and Renner, {Agnes B} and Thomas Rosenberg and G{\"u}nther Rudolph and Roberto Salati and Sener, {E Cumhur} and Sieving, {Paul A} and Franco Stanzial and Traboulsi, {Elias I} and Tsang, {Stephen H} and Bal{\'a}zs Varsanyi and Weleber, {Richard G} and Ditta Zobor and Katarina Stingl and Bernd Wissinger and Susanne Kohl",

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doi = "10.1002/humu.24371",

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Solaki, M, Baumann, B, Reuter, P, Andreasson, S, Audo, I, Ayuso, C, Balousha, G, Benedicenti, F, Birch, D, Bitoun, P, Blain, D, Bocquet, B, Branham, K, Català-Mora, J, De Baere, E, Dollfus, H, Falana, M, Giorda, R, Golovleva, I, Gottlob, I, Heckenlively, JR, Jacobson, SG, Jones, K, Jägle, H, Janecke, AR, Kellner, U, Liskova, P, Lorenz, B, Martorell-Sampol, L, Messias, A, Meunier, I, Belga Ottoni Porto, F, Papageorgiou, E, Plomp, AS, de Ravel, TJL, Reiff, CM, Renner, AB, Rosenberg, T, Rudolph, G, Salati, R, Sener, EC, Sieving, PA, Stanzial, F, Traboulsi, EI, Tsang, SH, Varsanyi, B, Weleber, RG, Zobor, D, Stingl, K, Wissinger, B & Kohl, S 2022, 'Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.', HUMAN MUTATION , vol. 43, no. 7, pp. 832-858. https://doi.org/10.1002/humu.24371

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia. / Solaki, Maria; Baumann, Britta; Reuter, Peggy et al.
In: HUMAN MUTATION , Vol. 43, No. 7, 2022, p. 832-858.

Research output: Contribution to journal › Review article › peer-review

TY - JOUR

T1 - Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.

AU - Solaki, Maria

AU - Baumann, Britta

AU - Reuter, Peggy

AU - Andreasson, Sten

AU - Audo, Isabelle

AU - Ayuso, Carmen

AU - Balousha, Ghassan

AU - Benedicenti, Francesco

AU - Birch, David

AU - Bitoun, Pierre

AU - Blain, Delphine

AU - Bocquet, Beatrice

AU - Branham, Kari

AU - Català-Mora, Jaume

AU - De Baere, Elfride

AU - Dollfus, Helene

AU - Falana, Mohammed

AU - Giorda, Roberto

AU - Golovleva, Irina

AU - Gottlob, Irene

AU - Heckenlively, John R

AU - Jacobson, Samuel G

AU - Jones, Kaylie

AU - Jägle, Herbert

AU - Janecke, Andreas R

AU - Kellner, Ulrich

AU - Liskova, Petra

AU - Lorenz, Birgit

AU - Martorell-Sampol, Loreto

AU - Messias, André

AU - Meunier, Isabelle

AU - Belga Ottoni Porto, Fernanda

AU - Papageorgiou, Eleni

AU - Plomp, Astrid S

AU - de Ravel, Thomy J L

AU - Reiff, Charlotte M

AU - Renner, Agnes B

AU - Rosenberg, Thomas

AU - Rudolph, Günther

AU - Salati, Roberto

AU - Sener, E Cumhur

AU - Sieving, Paul A

AU - Stanzial, Franco

AU - Traboulsi, Elias I

AU - Tsang, Stephen H

AU - Varsanyi, Balázs

AU - Weleber, Richard G

AU - Zobor, Ditta

AU - Stingl, Katarina

AU - Wissinger, Bernd

AU - Kohl, Susanne

N1 - Lehr-KH Bozen

PY - 2022

Y1 - 2022

KW - UNFOLDED PROTEIN RESPONSE

KW - NUCLEOTIDE-GATED CHANNELS

KW - ALPHA-SUBUNIT

KW - PHOTORECEPTOR DEGENERATION

KW - TOTAL COLOURBLINDNESS

KW - FUNCTIONAL-ANALYSIS

KW - MOLECULAR-GENETICS

KW - PAKISTANI FAMILIES

KW - NONSENSE MUTATION

KW - JAPANESE PATIENT

U2 - 10.1002/humu.24371

DO - 10.1002/humu.24371

M3 - Review article

C2 - 35332618

SN - 1059-7794

VL - 43

SP - 832

EP - 858

JO - HUMAN MUTATION

JF - HUMAN MUTATION

IS - 7

ER -

Solaki M, Baumann B, Reuter P, Andreasson S, Audo I, Ayuso C et al. Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia. HUMAN MUTATION . 2022;43(7):832-858. doi: 10.1002/humu.24371