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M

Mathieu Quinodoz

university of basel
H指数:25
被引数:4,577

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Clinical and molecular features of PRCD-associated retinopathy

PRCD相关视网膜病变的临床和分子特征

Acta Ophthalmologica
IF2.8
2026-09-200
OAAI
Vasil Kostin; Karolina Kaminska; Marco Cattaneo; Enrico Ambrosini; Carmen Ayuso; Almudena Ávila-Fernández; Béatrice Bocquet; Luisa Coutinho-Santos; Benedetto Falsini; Lidia Fernandez-Caballero Palomeque; Bohdan Kousal; Petra Liskova; Inmaculada Martín-Mérida; María Juliana Ballesta-Martínez; Daan Panneman; Susanne Roosing; Isabelle Meunier; José M. Millán; Monika Pankievič; Irene Perea-Romero; Virginie Peter; Giorgio Placidi; Cristina Santos; Francesca Simonelli; Ana Berta Sousa; Francesco Testa; Marie Vajter; Marianna Weener; Mathieu Quinodoz; Carlo Rivolta; Giacomo Calzetti
RetiGene, a comprehensive gene atlas for inherited retinal diseases

RetiGene，一种全面的遗传性视网膜疾病基因图谱

american journal of human genetics
IF0
2025-09-160
OAAI
Carlo Rivolta; Elifnaz Celik; Dhryata Kamdar; Francesca Cancellieri; Karolina Kaminska; Mukhtar Ullah; Pilar Barberán-Martínez; Manon Bouckaert; Marta Cortón; Emma Delanote; Lidia Fernández-Caballero; Gema García García; Lara K. Holtes; Marianthi Karali; Irma Lopez; Virginie G. Peter; Nina Schneider; Lieselot Vincke; Carmen Ayuso; Sandro Banfi; Beatrice Bocquet; Frauke Coppieters; Frans P.M. Cremers; Chris F. Inglehearn; Takeshi Iwata; Vasiliki Kalatzis; Robert K. Koenekoop; José M. Millán; Dror Sharon; Carmel Toomes; Mathieu Quinodoz
Identification of new families and variants in autosomal dominant macular dystrophy associated with THRB

与THRB相关的常染色体显性黄斑变性的新家系和变异体的鉴定

SCIENTIFIC REPORTS
IF3.9
2025-04-280
OA
Fernandez-Caballero, Lidia; Blanco-Kelly, Fiona; Swafiri, Saoud Tahsin; Martin-Merida, Maria Inmaculada; Quinodoz, Mathieu; Ullah, Mukhtar; Carreno, Ester; Martin-Gutierrez, Maria Pilar; Garcia-Sandoval, Blanca; Minguez, Pablo; Rivolta, Carlo; Corton, Marta; Ayuso, Carmen
Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2025-04-010
OAAI
Kaminska, Karolina; Cancellieri, Francesca; Quinodoz, Mathieu; Moye, Abigail R.; Bauwens, Miriam; Lin, Siying; Janeschitz-Kriegl, Lucas; Hayman, Tamar; Barberan-Martinez, Pilar; Schlaeger, Regina; van den Broeck, Filip; Fernandez, Almudena Avila; Fernandez-Caballero, Lidia; Perea-Romero, Irene; Garcia-Garcia, Gema; Salom, David; Mazzola, Pascale; Zuleger, Theresia; Poths, Karin; Haack, Tobias B.; Jacob, Julie; Vermeer, Sascha; Terbeek, Frederique; Feltgen, Nicolas; Moulin, Alexandre P.; Koutroumanou, Louisa; Papadakis, George; Browning, Andrew C.; Madhusudhan, Savita; Granse, Lotta; Banin, Eyal; Sousa, Ana Berta; Santos, Luisa Coutinho; Kuehlewein, Laura; De Angeli, Pietro; Leroy, Bart P.; Mahroo, Omar A.; Sedgwick, Fay; Eden, James; Pfau, Maximilian; Andreasson, Sten; Scholl, Hendrik P. N.; Ayuso, Carmen; Millan, Jose M.; Sharon, Dror; Tsilimbaris, Miltiadis K.; Vaclavik, Veronika; Tran, Hoai, V; Ben-Yosef, Tamar; De Baere, Elfride; Webster, Andrew R.; Arno, Gavin; Sergouniotis, Panagiotis I.; Kohl, Susanne; Santos, Cristina; Rivolta, Carlo
A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models
HUMAN MOLECULAR GENETICS
IF3.2
2025-03-010
OAAI
Corral-Serrano, Julio C.; Vaclavik, Veronika; van de Sompele, Stijn; Kaminska, Karolina; Jovanovic, Katarina; Escher, Pascal; van den Broeck, Filip; Cancellieri, Francesca; Toulis, Vasileios; Leroy, Bart P.; de Zaeytijd, Julie; You, Zhixuan; Ottaviani, Daniele; Quinodoz, Mathieu; Bordeanu, Gabriela; Hardcastle, Alison J.; Coppieters, Frauke; Tran, Viet H.; Cheetham, Michael E.; Rivolta, Carlo; De Baere, Elfride
Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2024-12-131
OAAI
Karali, Marianthi; Garcia-Garcia, Gema; Kaminska, Karolina; Altalbishi, Alaa; Cancellieri, Francesca; Testa, Francesco; Barillari, Maria Rosaria; Panagiotou, Evangelia S.; Psillas, George; Vaclavik, Veronika; Tran, Viet H.; Janeschitz-Kriegl, Lucas; Scholl, Hendrik P. N.; Salameh, Manar; Barberan-Martinez, Pilar; Rodriguez-Munoz, Ana; Armengot, Miguel; Scarpato, Margherita; Zeuli, Roberta; Quinodoz, Mathieu; Simonelli, Francesca; Rivolta, Carlo; Banfi, Sandro; Millan, Jose M.
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment
NATURE COMMUNICATIONS
IF15.7
2024-11-210
OAAI
Zanetti, Andrea; Dujardin, Gwendal; Fares-Taie, Lucas; Amiel, Jeanne; Roger, Jerome E.; Audo, Isabelle; Robert, Matthieu P.; David, Pierre; Jung, Vincent; Goudin, Nicolas; Guerrera, Ida Chiara; Moriceau, Stephanie; Amana, Danielle; Assia Batzir, Nurit; Bachar-Zipori, Anat; Salmon, Lina Basel; Boddaert, Nathalie; Briault, Sylvain; Bruel, Ange-Line; Costet-Fighiera, Christine; Santos, Luisa Coutinho; Gitiaux, Cyril; Kaminska, Karolina; Kuentz, Paul; Orenstein, Naama; Philip-Sarles, Nicole; Plutino, Morgane; Quinodoz, Mathieu; Santos, Cristina; Sigaudy, Sabine; Soeiro e Sa, Mariana; Sofrin, Efrat; Sousa, Ana Berta; Sousa-Luis, Rui; Thauvin-Robinet, Christel; van Dijk, Erwin L.; Zaafrane-Khachnaoui, Khaoula; Zur, Dinah; Kaplan, Josseline; Rivolta, Carlo; Rozet, Jean-Michel; Perrault, Isabelle
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-09-011
OAAI
Malka, Samantha; Biswas, Pooja; Berry, Anne-Marie; Sangermano, Riccardo; Ullah, Mukhtar; Lin, Siying; D'Antonio, Matteo; Jestin, Aleksandr; Jiao, Xiaodong; Quinodoz, Mathieu; Sullivan, Lori; Gardner, Jessica C.; Place, Emily M.; Michaelides, Michel; Kaminska, Karolina; Mahroo, Omar A.; Schiff, Elena; Wright, Genevieve; Cancellieri, Francesca; Vaclavik, Veronika; Santos, Cristina; Rehman, Atta Ur; Mehrotra, Sudeep; Baig, Hafiz Muhammad Azhar; Iqbal, Muhammad; Nsar, Muhammad A.; Santos, Luisa Coutinho; Sousa, Ana Berta; Tran, Viet H.; Matsui, Hiroko; Bhatia, Anjana; Naeem, Muhammad Asif; Akram, Shehla J.; Akram, Javed; Riazuddin, Sheikh; Ayuso, Carmen; Pierce, Eric A.; Hardcastle, Alison J.; Riazuddin, S. Amer; Frazer, Kelly A.; Hejtmancik, J. Fielding; Rivolta, Carlo; Bujakowska, Kinga M.; Arno, Gavin; Webster, Andrew R.; Ayyagari, Radha
Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration

UBAP1L的功能丧失变异导致常染色体隐性视网膜变性

GENETICS IN MEDICINE
IF6.2
2024-06-014
PRE
Han, Ji Hoon; Rodenburg, Kim; Hayman, Tamar; Calzetti, Giacomo; Kaminska, Karolina; Quinodoz, Mathieu; Marra, Molly; Wallerich, Sandrine; Allon, Gilad; Nagy, Zoltan Z.; Knezy, Krisztina; Li, Yumei; Chen, Rui; Barboni, Mirella Telles Salgueiro; Yang, Paul; Pennesi, Mark E.; van den Born, L. Ingeborgh; Varsanyi, Balazs; Szabo, Viktoria; Sharon, Dror; Banin, Eyal; Ben-Yosef, Tamar; Roosing, Susanne; Koenekoop, Robert K.; Rivolta, Carlo
Herpes simplex encephalitis due to a mutation in an E3 ubiquitin ligase

E3泛素连接酶突变引起的单纯疱疹病毒性脑炎

NATURE COMMUNICATIONS
IF15.7
2024-05-102
OAAI
Bibert, Stephanie; Quinodoz, Mathieu; Perriot, Sylvain; Krebs, Fanny S.; Jan, Maxime; Malta, Rita C.; Collinet, Emilie; Canales, Mathieu; Mathias, Amandine; Faignart, Nicole; Roulet-Perez, Eliane; Meylan, Pascal; Brouillet, Rene; Opota, Onya; Lozano-Calderon, Leyder; Fellmann, Florence; Guex, Nicolas; Zoete, Vincent; Asner, Sandra; Rivolta, Carlo; Du Pasquier, Renaud; Bochud, Pierre-Yves
Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-04-016
OAAI
Quinodoz, Mathieu; Kaminska, Karolina; Cancellieri, Francesca; Han, Ji Hoon; Peter, Virginie G.; Celik, Elifnaz; Janeschitz-Kriegl, Lucas; Schaerer, Nils; Hauenstein, Daniela; Gyoergy, Bence; Calzetti, Giacomo; Hahaut, Vincent; Custodio, Sonia; Sousa, Ana Cristina; Wada, Yuko; Murakami, Yusuke; Fernandez, Almudena Avila; Hernandez, Cristina Rodilla; Minguez, Pablo; Ayuso, Carmen; Nishiguchi, Koji M.; Santos, Cristina; Santos, Luisa Coutinho; Tran, Viet H.; Vaclavik, Veronika; Scholl, Hendrik P. N.; Rivolta, Carlo
Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-02-013
OAAI
Bauwens, Miriam; Celik, Elifnaz; Zur, Dinah; Lin, Siying; Quinodoz, Mathieu; Michaelides, Michel; Webster, Andrew R.; Van Den Broeck, Filip; Leroy, Bart P.; Rizel, Leah; Moye, Abigail R.; Meunier, Audrey; Tran, Hoai Viet; Moulin, Alexandre P.; Mahieu, Quinten; Van Heetvelde, Mattias; Arno, Gavi; Rivolta, Carlo; De Baere, Elfride; Ben-Yosef, Tamar
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa
JCI INSIGHT
IF6.1
2023-11-085
OA
Bocquet, Beatrice; Borday, Caroline; Erkilic, Nejla; Mamaeva, Daria; Donval, Alicia; Masson, Christel; Parain, Karine; Kaminska, Karolina; Quinodoz, Mathieu; Perea-Romero, Irene; Garcia-Garcia, Gema; Jimenez-Medina, Carla; Boukhaddaoui, Hassan; Coget, Arthur; Leboucq, Nicolas; Calzetti, Giacomo; Gandolfi, Stefano; Percesepe, Antonio; Barili, Valeria; Uliana, Vera; Delsante, Marco; Bozzetti, Francesca; Scholl, Hendrik P. N.; Corton, Marta; Ayuso, Carmen; Millan, Jose M.; Rivolta, Carlo; Meunier, Isabelle; Perron, Muriel; Kalatzis, Vasiliki

研究方向

暂未获取到该数据
C
Carlo Rivolta
H 指数:55论文数:292被引数:1.9万
K
Karolina Kamińska
H 指数:9论文数:36被引数:206
V
Virginie G. Peter
H 指数:13论文数:32被引数:616
F
Francesca Cancellieri
H 指数:8论文数:25被引数:181
L
Luísa Coutinho Santos
H 指数:10论文数:23被引数:645
A
Andrea Superti‐Furga
H 指数:83论文数:732被引数:2.6万
C
Carmen Ayuso
H 指数:68论文数:604被引数:1.8万
A
Ana Berta Sousa
H 指数:20论文数:90被引数:1,688
H
Hoai Viet Tran
H 指数:20论文数:89被引数:1,070
H
Hendrik P. N. Scholl
H 指数:66论文数:839被引数:1.6万