C. Rivolta
发表
Silvio Alessandro Di Gioia,
S. Letteboer,
C. Kostic,
2012,
Human molecular genetics.
Silvio Alessandro Di Gioia,
S. Letteboer,
D. Sharon,
2015,
Human molecular genetics.
S. Ehrlich,
A. Danchin,
S. Foster,
2003,
Proceedings of the National Academy of Sciences of the United States of America.
C. Rivolta,
Min Zhao,
I. Mantel,
2019,
Nature Communications.
Ayellet V. Segrè,
Cameron D. Palmer,
P. Elliott,
2010,
Nature.
Ross M. Fraser,
M. Jarvelin,
L. Liang,
2013,
PLoS genetics.
F. Agliardi,
C. Rivolta,
G. Crosta,
2013
.
A. Goffeau,
D. Noone,
B. Purnelle,
1997,
Nature.
Tanya M. Teslovich,
May E. Montasser,
Toshiko Tanaka,
2015,
PLoS Genetics.
Amna Z. Shah,
C. Rivolta,
S. Bhattacharya,
2012,
PLoS genetics.
Nicolò Riggi,
G. Ciriello,
C. Rivolta,
2016,
American journal of human genetics.
N. Brunetti‐Pierri,
C. Rivolta,
M. Filocamo,
2020,
Human molecular genetics.
Ioannis Xenarios,
C. V. Jongeneel,
Stylianos E. Antonarakis,
2011,
PloS one.
T. Werge,
J. Beckmann,
M. Cuénod,
2009,
Psychiatric genetics.
J. Beckmann,
J. Staessen,
L. Thijs,
2013,
Hypertension.
C. Rivolta,
G. Tanacković,
2009,
Ophthalmic genetics.
Tanya M. Teslovich,
May E. Montasser,
Toshiko Tanaka,
2016,
PLoS genetics.
Brian J. Stevenson,
R. Baron,
R. Eastell,
2016,
The New England journal of medicine.
B. J. Klevering,
C. Klaver,
A. D. den Hollander,
2019,
Investigative ophthalmology & visual science.
C. Rivolta,
A. Bottani,
S. Uffer,
2012,
Ophthalmology.
T. Tsunoda,
T. Nakazawa,
C. Rivolta,
2019,
bioRxiv.
C. Rivolta,
H. Scholl,
M. Folcher,
2021,
Cornea.
Silvio Alessandro Di Gioia,
C. Rivolta,
C. Iseli,
2009,
Molecular vision.
C. Rivolta,
B. Royer-Bertrand,
2014,
Cellular and Molecular Life Sciences.
C. Rivolta,
1987,
Applied optics.
C. Hoggart,
T. Spector,
J. Bell,
2014
.
J. Beckmann,
O. Ohara,
T. Hirano,
2008,
PloS one.
Carlo Rivolta,
D. Sharon,
C. Rivolta,
2002,
Human molecular genetics.
C. Rivolta,
E. Berson,
C. Ayuso,
2011
.
C. Hoggart,
T. Spector,
J. Bell,
2017
.
T. Nakazawa,
C. Rivolta,
K. Sonoda,
2020,
Japanese Journal of Ophthalmology.
C. Rivolta,
M. Cortón,
C. Ayuso,
2012,
Ophthalmology.
Eurie L. Hong,
E. F. Perez,
Rachel G Liao,
2022,
Nature.
C. Rivolta,
A. Superti-Furga,
M. Quinodoz,
2021,
Genes.
C. Rivolta,
J. Tena,
J. Gómez-Skarmeta,
2022,
bioRxiv.
Rachel L. Taylor,
C. Rivolta,
D. Donnelly,
2020,
Human mutation.
Rachel L. Taylor,
C. Rivolta,
D. Donnelly,
2020,
bioRxiv.
C. Rivolta,
A. Sousa,
Karolina Kaminska,
2022,
Ophthalmic genetics.
C. Rivolta,
S. Leyvraz,
L. Zografos,
2015,
Journal of Human Genetics.
C. Rivolta,
S. Nampoothiri,
A. Kariminejad,
2016,
Arthritis & rheumatology.
C. Rivolta,
C. Gallay,
S. Christen-Zaech,
2020
.
C. Rivolta,
T. Dryja,
E. Berson,
2006,
Molecular vision.
PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.
L. Schöls,
C. Rivolta,
O. Poirot,
2013,
Human molecular genetics.
C. Rivolta,
J. Tena,
J. Gómez-Skarmeta,
2022,
American journal of human genetics.
F. Agliardi,
C. Rivolta,
G. Crosta,
2013
.
F. Agliardi,
C. Rivolta,
G. Crosta,
2012
.
Karen M. Oprych,
C. Rivolta,
H. Scholl,
2022,
Human molecular genetics.
C. Rivolta,
R. Rabus,
D. Karamata,
1998,
Molecular microbiology.
A. Moir,
C. Rivolta,
D. Karamata,
1998,
Microbiology.
M. Pagni,
C. Rivolta,
1999,
Genetics.
C. Rivolta,
B. Royer-Bertrand,
2015,
Cellular and Molecular Life Sciences.
A. Fulton,
G. Fishman,
C. Rivolta,
2021
.
C. Rivolta,
K. Nishiguchi,
2012,
PloS one.
A. Goesmann,
L. Falquet,
Shantanu Roy,
2015,
Environmental microbiology.
Nicolò Riggi,
C. Rivolta,
S. Leyvraz,
2019,
Investigative ophthalmology & visual science.
G. Turcatti,
Nicolò Riggi,
C. Rivolta,
2022,
Cancers.
Nicolò Riggi,
C. Rivolta,
S. Leyvraz,
2020,
PLoS genetics.
Dian Donnai,
Sheila Unger,
Andrea Superti-Furga,
2016,
Nature Genetics.
Brian J. Stevenson,
G. Superti-Furga,
C. Ross,
2017,
Nature genetics.
C. Rivolta,
M. Cortón,
C. Ayuso,
2013,
PloS one.
J. Beckmann,
C. Rivolta,
T. Rio Frio,
2008,
Human molecular genetics.
J. Beckmann,
C. Rivolta,
A. Ransijn,
2008
.
Z. Kutalik,
Y. Kamatani,
T. Nakazawa,
2018,
Nature Communications.
C. Rivolta,
E. Berson,
B. Chabot,
2011,
Human molecular genetics.
S. Mundlos,
M. Spielmann,
C. Rivolta,
2021,
Nature.
Paola Benaglio,
Carlo Rivolta,
T. L. McGee,
2011,
Human mutation.
C. Rivolta,
J. Senderek,
R. Chrast,
2012,
Molecular Syndromology.
C. Rivolta,
A. Superti-Furga,
É. Roulet-Perez,
2020,
BMC Neurology.
G. Superti-Furga,
C. Rivolta,
E. Dikoglu,
2015,
Scientific Reports.
C. Rivolta,
T. Langmann,
P. Farinelli,
2016,
American journal of human genetics.
C. Rivolta,
M. Mojarrad,
Arash Salmaninejad,
2021,
Scientific Reports.
C. Rivolta,
T. Dryja,
E. Berson,
2000,
American journal of human genetics.
Mattia G. Bergomi,
Christopher M. DeBoever,
Matthew A. Wiles,
2021,
Nature.
Tanya M. Teslovich,
Ross M. Fraser,
Brendan P. Zietsch,
2017,
Nature Human Behaviour.
Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases
D. Sharon,
C. Rivolta,
Mor Hanany,
2020,
Proceedings of the National Academy of Sciences.
C. Rivolta,
M. Cortón,
I. Mahíllo-Fernández,
2020,
American journal of ophthalmology.
Makoto Nakamura,
Paola Benaglio,
Shinji Ueno,
2013,
Proceedings of the National Academy of Sciences.
T. L. McGee,
J. Beckmann,
C. Rivolta,
2009,
Human mutation.
D. Sharon,
C. Rivolta,
A. Kimchi,
2016,
Ophthalmic genetics.
N. Guex,
M. Delorenzi,
C. Rivolta,
2021,
Frontiers in Immunology.
Takafumi N. Yamaguchi,
Theodore G. Drivas,
Klaudia Walter,
2022,
medRxiv.
P. Stenson,
D. Cooper,
C. Rivolta,
2022,
American journal of human genetics.
C. Rivolta,
A. Superti-Furga,
M. Quinodoz,
2019,
Genes.
Silvio Alessandro Di Gioia,
C. Rivolta,
M. Cortón,
2015,
Scientific Reports.
C. Rivolta,
R. Bibi,
E. Ullah,
2015,
Scientific Reports.
Amna Z. Shah,
C. Rivolta,
S. Bhattacharya,
2013,
Annals of human genetics.
I. Gut,
B. Wirth,
F. Muntoni,
2020,
The Journal of molecular diagnostics : JMD.
S. Mundlos,
S. Mead,
M. Mhlanga,
2020,
American journal of human genetics.
A. Hoischen,
C. Rivolta,
P. Farinelli,
2022,
Frontiers in Cell and Developmental Biology.
Amna Z. Shah,
A. Chakravarti,
C. Rivolta,
2016,
Scientific Reports.
T. L. McGee,
R. Jensen,
C. Rivolta,
2006,
Human mutation.
H. Hakonarson,
B. Gener,
D. Sharon,
2021,
Scientific reports.
C. Rivolta,
E. Tucker,
V. Ramamurthy,
2019,
PLoS genetics.
C. Klaver,
C. Rivolta,
P. Farinelli,
2016,
Human molecular genetics.
J. Beckmann,
O. Ohara,
T. Hirano,
2008,
PLoS ONE.
Nicolò Riggi,
P. Provero,
I. Stamenkovic,
2018,
EBioMedicine.
Silvio Alessandro Di Gioia,
Y. Arsenijévic,
R. Roepman,
2016,
American journal of human genetics.
M. Baumgartner,
C. Francklyn,
J. Ghika,
2019,
Annals of clinical and translational neurology.
M. Baumgartner,
C. Francklyn,
J. Ghika,
2019,
Annals of clinical and translational neurology.
Siqun Xu,
A. Swaroop,
C. Rivolta,
2002,
The Journal of Biological Chemistry.
C. Rivolta,
M. Mojarrad,
Arash Salmaninejad,
2021,
Nature Communications.
C. Rivolta,
P. Benaglio,
2010,
PloS one.
C. Rivolta,
V. Zoete,
O. Michielin,
2019,
PLoS pathogens.
C. Rivolta,
T. Dryja,
E. Berson,
2002,
Archives of ophthalmology.
C. Rivolta,
E. Berson,
P. Benaglio,
2014,
Molecular vision.
Sheila Unger,
Andrea Superti-Furga,
Brian J. Stevenson,
2015,
American journal of medical genetics. Part A.
C. Rivolta,
M. Mojarrad,
Arash Salmaninejad,
2020,
Scientific Reports.
B. J. Klevering,
Silvio Alessandro Di Gioia,
C. Rivolta,
2014,
Ophthalmology.
C. Rivolta,
A. Superti-Furga,
Nicola Bedoni,
2015,
Scientific Reports.
A. Ferbert,
C. Rivolta,
A. Antonellis,
2015,
Brain : a journal of neurology.
A. Fulton,
D. Sharon,
C. Rivolta,
2020,
medRxiv.
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD
A. Fulton,
D. Sharon,
C. Rivolta,
2021,
NPJ genomic medicine.
J. Beckmann,
C. Rivolta,
E. Berson,
2008,
The Journal of clinical investigation.
L. Zon,
Elliott J. Hagedorn,
L. Notarangelo,
2017,
The Journal of experimental medicine.
Silvio Alessandro Di Gioia,
C. Rivolta,
N. Matsumoto,
2019,
Genetics in Medicine.
T. Tsunoda,
T. Nakazawa,
C. Rivolta,
2021,
Communications biology.
C. Rivolta,
T. Dryja,
E. Berson,
2001,
Human mutation.
C. Rivolta,
E. Berson,
C. Ayuso,
2011,
American journal of human genetics.
C. Rivolta,
M. Damme,
M. Quinodoz,
2020,
Human mutation.
C. Hoggart,
J. Beckmann,
Z. Kutalik,
2012,
Hypertension.
C. Rivolta,
H. Tjalsma,
L. Hederstedt,
1999,
Journal of bacteriology.
C. Rivolta,
D. Karamata,
L. Hederstedt,
1999,
The Journal of Biological Chemistry.
C. Rivolta,
P. Farinelli,
J. Andersen,
2020,
bioRxiv.
C. Rivolta,
P. Farinelli,
S. Siddiqi,
2016,
Clinical genetics.
C. Rivolta,
M. Cortón,
C. Ayuso,
2016,
PloS one.
C. Bachert,
C. Rivolta,
P. Farinelli,
2020,
Human mutation.
C. Rivolta,
M. Cortón,
C. Ayuso,
2019,
American journal of ophthalmology.
T. Dierks,
D. Sharon,
C. Rivolta,
2018,
Genetics in Medicine.
T. Dierks,
D. Sharon,
C. Rivolta,
2018,
Genetics in Medicine.
C. Rivolta,
T. Dryja,
E. Berson,
2004,
Experimental eye research.
L. Farinelli,
A. Goesmann,
L. Falquet,
2015,
Front. Microbiol..
Silvio Alessandro Di Gioia,
C. Rivolta,
A. Superti-Furga,
2017,
American journal of human genetics.
C. Rivolta,
M. Quinodoz,
M. A. Naeem,
2021,
Ophthalmic Research.
C Rivolta,
C. Rivolta,
D. Karamata,
1998,
Microbiology.
C. Rivolta,
P. Escher,
F. Roulez,
2022,
Klinische Monatsblätter für Augenheilkunde.
C. Rivolta,
V. Katanaev,
M. Savitsky,
2023,
Med.
Nicola Casagli,
Lorenzo Solari,
Tommaso Carlà,
2019,
Landslides.
C. Rivolta,
J. Wijnholds,
M. Dernigoghossian,
2015,
The Journal of Neuroscience.
P. Sieving,
C. Rivolta,
E. Berson,
2003,
Molecular vision.
A. Fulton,
G. Fishman,
C. Rivolta,
2001,
Human mutation.
C. Rivolta,
Katarina Cisarova,
M. Quinodoz,
2023,
PNAS nexus.
T. Papathomas,
C. Rivolta,
A. Rehman,
2020,
Ophthalmology and Therapy.
J. Corbo,
E. Zrenner,
Silvio Alessandro Di Gioia,
2010,
American journal of human genetics.
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype
A. Need,
C. Rivolta,
M. Bleda,
2022,
npj Genomic Medicine.
C. Rivolta,
G. B. Crosta,
F. Agliardi,
2017,
Landslides.
David M. Evans,
C. Hoggart,
M. Jarvelin,
2014,
PLoS genetics.
Z. Kutalik,
Y. Kamatani,
T. Nakazawa,
2018,
bioRxiv.
C. Rivolta,
E. Intrieri,
P. Confuorto,
2023,
Frontiers in Earth Science.
C. Rivolta,
E. Berson,
Giulia Venturini,
2014,
Genetics in Medicine.
C. Hoggart,
J. Beckmann,
Z. Kutalik,
2011
.
B. Roska,
C. Rivolta,
H. Scholl,
2023,
bioRxiv.
C. Rivolta,
C. Gallay,
S. Christen-Zaech,
2020,
European Journal of Pediatrics.
Marcello Vanali,
Alfredo Cigada,
Anna Maria Chiara Cappellini,
2014
.
Marcello Vanali,
Anna Maria Chiara Cappellini,
D. Leva,
2012
.
D. Sharon,
C. Rivolta,
E. Banin,
2018,
Molecular vision.
Silvio Alessandro Di Gioia,
C. Rivolta,
E. Berson,
2014,
PloS one.
C. Rivolta,
P. Farinelli,
A. Superti-Furga,
2019,
Ophthalmic genetics.
S. Antonarakis,
C. Pournaras,
C. Rivolta,
2019,
Human molecular genetics.
Mattia G. Bergomi,
Christopher M. DeBoever,
Matthew A. Wiles,
2021,
Nature.
Eurie L. Hong,
E. F. Perez,
Rachel G Liao,
2021
.
C. Rivolta,
J. McGrath,
M. Folcher,
2022,
Human Molecular Genetics.
C. Rivolta,
F. Candotti,
A. Bottani,
2021,
Clinical genetics.
C. Rivolta,
M. Quinodoz,
H. Kausar,
2022,
Ophthalmic genetics.
Tanya M. Teslovich,
May E. Montasser,
D. Hernandez,
2022
.
L. Schöls,
C. Rivolta,
O. Poirot,
2013
.
T. Werge,
J. Beckmann,
M. Cuénod,
2009,
Psychiatric genetics.
J. Beckmann,
C. Rivolta,
E. Berson,
2008,
The Journal of clinical investigation.
D. Sharon,
C. Rivolta,
E. Banin,
2021,
Molecular vision.
Silvio Alessandro Di Gioia,
C. Rivolta,
A. Superti-Furga,
2017,
American journal of human genetics.
C Rivolta,
C. Rivolta,
1990,
Applied optics.
C. Rivolta,
Marion Schroeder,
U. Kjellström,
2022,
Ophthalmic genetics.
Damien C. Croteau Chonka,
Nancy L. Heard Costa,
Ross M. Fraser,
2008
.
Damien C. Croteau Chonka,
Nancy L. Heard Costa,
Ross M. Fraser,
2010
.
C. Rivolta,
E. Berson,
P. Benaglio,
2014,
Molecular vision.
C. Rivolta,
M. Folcher,
M. Quinodoz,
2023,
Ophthalmic Research.
T. L. McGee,
J. Beckmann,
C. Rivolta,
2009
.
C. Rivolta,
M. Cortón,
C. Ayuso,
2016,
PLoS ONE.