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M. Quinodoz · SciRah

Researcher profile · Semantic Scholar

M. Quinodoz

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M. Quinodoz — researcher profile on SciRah

h-index: 22
Works: 102
Citations: 1,528

Most-cited papers

AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data
M. Quinodoz, V. Peter, Nicola Bedoni, Béryl Royer Bertrand +12 more
2021Nature Communications145 citations Open access
Semantic Scholar
Fast and highly sensitive full-length single-cell RNA sequencing using FLASH-seq
V. Hahaut, D. Pavlinić, Walter Carbone, S. Schuierer +6 more
2022Nature Biotechnology118 citations Open access
Semantic Scholar
DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders.
M. Quinodoz, B. Royer-Bertrand, Katarina Cisarova, Silvio Alessandro Di Gioia +2 more
2017American Journal of Human Genetics115 citations Open access
Semantic Scholar
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator
L. Allou, Sara Balzano, Andreas Magg, M. Quinodoz +29 more
2021Nature100 citations Open access
Semantic Scholar
Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity
M. Quinodoz, V. Peter, Katarina Cisarova, B. Royer-Bertrand +5 more
2022American Journal of Human Genetics75 citations Open access
Semantic Scholar
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative
G. Butler-Laporte, G. Povysil, J. Kosmicki, E. Cirulli +154 more
2022medRxiv61 citations Open access
Semantic Scholar
High-efficiency base editing in the retina in primates and human tissues
A. Muller, J. Sullivan, Wibke Schwarzer, Man-Tian Wang +45 more
2025Nature Medicine52 citations Open access
Semantic Scholar
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis
V. Peter, Karolina Kaminska, Cristina M Santos, M. Quinodoz +9 more
2023PNAS Nexus48 citations Open access
Semantic Scholar
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene
V. Peter, M. Quinodoz, J. Pinto-Basto, S. Sousa +13 more
2019Genetics in Medicine46 citations Open access
Semantic Scholar
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
Lance H. Rodan, R. Spillmann, H. Kurata, S. Lamothe +53 more
2021Genetics in Medicine44 citations Open access
Semantic Scholar
CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels
A. B. Gonçalves, Sarah Kirstine Hasselbalch, Beinta Biskopstø Joensen, S. Patzke +12 more
2020bioRxiv41 citations Open access
Semantic Scholar
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy
K. Nikopoulos, Katarina Cisarova, M. Quinodoz, Hanna Koskiniemi-Kuendig +24 more
2018Nature Communications38 citations Open access
Semantic Scholar
Transcriptomic Signature Differences Between SARS-CoV-2 and Influenza Virus Infected Patients
S. Bibert, N. Guex, João P. Lourenço, T. Brahier +20 more
2021Frontiers in Immunology36 citations Open access
Semantic Scholar
RetiGene, a comprehensive gene atlas for inherited retinal diseases
C. Rivolta, Elifnaz Celik, D. Kamdar, Francesca Cancellieri +27 more
2025American Journal of Human Genetics34 citations Open access
Semantic Scholar
New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV
V. Peter, M. Quinodoz, Sílvia Sadio, Sebastian Held +6 more
2020Human Mutation34 citations Open access
Semantic Scholar
Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes
G. Astuti, L. I. van den Born, M. I. Khan, C. Hamel +13 more
2018Genes28 citations Open access
Semantic Scholar
Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice
A. Moye, Nicola Bedoni, Jessica G. Cunningham, Urikhan Sanzhaeva +13 more
2019PLoS Genetics26 citations Open access
Semantic Scholar
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies
M. Varela, J. Bellingham, F. Motta, Neringa Jurkute +19 more
2022Human Molecular Genetics25 citations Open access
Semantic Scholar
Likelihood-Free Inference in High-Dimensional Models
A. Kousathanas, Christoph Leuenberger, Jonas Helfer, M. Quinodoz +2 more
2015Genetics25 citations Open access
Semantic Scholar
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype
Neringa Jurkute, Francesca Cancellieri, Lisa Pohl, Catherina H. Z. Li +80 more
2022npj Genomic Medicine24 citations Open access
Semantic Scholar
Herpes simplex encephalitis in adult patients with MASP-2 deficiency
S. Bibert, J. Piret, M. Quinodoz, Emilie Collinet +10 more
2019PLoS Pathogens23 citations Open access
Semantic Scholar
Reciprocal modulation of mesenchymal stem cells and tumor cells promotes lung cancer metastasis
G. Fregni, M. Quinodoz, Emely Möller, Joanna A. Vuille +8 more
2018EBioMedicine23 citations Open access
Semantic Scholar
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.
Nicola Bedoni, M. Quinodoz, M. Pinelli, G. Cappuccio +15 more
2020Human Molecular Genetics21 citations Open access
Semantic Scholar
Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature
F. Bastos, M. Quinodoz, M. Addor, B. Royer-Bertrand +6 more
2020BMC Neurology19 citations Open access
Semantic Scholar
Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4
Atta ur Rehman, V. Peter, M. Quinodoz, A. Rashid +3 more
2019Genes19 citations Open access
Semantic Scholar
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa
B. Bocquet, Caroline Borday, Nejla Erkilic, Daria Mamaeva +26 more
2023JCI Insight17 citations Open access
Semantic Scholar
In-depth molecular profiling of an intronic GNAO1 mutant as the basis for personalized high-throughput drug screening.
A. Koval, Y. Larasati, M. Savitsky, Gonzalo P. Solis +5 more
2023i Medicina17 citations Open access
Semantic Scholar
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa
M. Quinodoz, K. Rodenburg, Zuzana Cvačková, Karolina Kaminska +166 more
2025medRxiv16 citations Open access
Semantic Scholar
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD
Riccardo Sangermano, Iris Deitch, V. Peter, R. Ba-Abbad +22 more
2021npj Genomic Medicine16 citations Open access
Semantic Scholar
Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads
M. Quinodoz, Karolina Kaminska, Francesca Cancellieri, Ji Hoon Han +23 more
2024American Journal of Human Genetics15 citations Open access
Semantic Scholar
De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorder
M. Quinodoz, S. Rutz, V. Peter, Livia Garavelli +10 more
2024EMBO Journal15 citations
Semantic Scholar
Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies
Arash Salmaninejad, Nicola Bedoni, Z. Ravesh, M. Quinodoz +4 more
2020Scientific Reports15 citations Open access
Semantic Scholar
A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa
V. Peter, K. Nikopoulos, M. Quinodoz, Lotta Granse +4 more
2019Ophthalmic Genetics15 citations
Semantic Scholar
A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort
Mukhtar Ullah, Atta Ur Rehman, M. Quinodoz, Abdur Rashid +14 more
2025npj Genomic Medicine14 citations Open access
Semantic Scholar
Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration.
Ji Hoon Han, K. Rodenburg, T. Hayman, G. Calzetti +21 more
2024Genetics in Medicine12 citations Open access
Semantic Scholar
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa
M. Quinodoz, K. Rodenburg, Zuzana Cvačková, Karolina Kaminska +184 more
2026Nature Genetics11 citations Open access
Semantic Scholar
Herpes simplex encephalitis due to a mutation in an E3 ubiquitin ligase
S. Bibert, M. Quinodoz, Sylvain Perriot, F. Krebs +18 more
2024Nature Communications10 citations Open access
Semantic Scholar
Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration
M. Dentici, V. Alesi, M. Quinodoz, B. Robens +12 more
2021Journal of Medical Genetics10 citations
Semantic Scholar
Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies
Atta ur Rehman, Neda Sepahi, Nicola Bedoni, Z. Ravesh +12 more
2021Scientific Reports9 citations Open access
Semantic Scholar
Topography of Slowed Dark Adaptation in Pseudoxanthoma Elasticum: PROPXE Study Report 1
Kristina Pfau, G. Ansari, Stephan Michels, C. Dysli +11 more
2025Investigative Ophthalmology and Visual Science8 citations Open access
Semantic Scholar
Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction.
M. Bauwens, Elifnaz Celik, D. Zur, Si-Ying Lin +16 more
2024American Journal of Human Genetics8 citations Open access
Semantic Scholar
High-efficiency base editing for Stargardt disease in mice, non-human primates, and human retina tissue
A. Muller, J. Sullivan, Wibke Schwarzer, Mantian Wang +34 more
2023bioRxiv8 citations Open access
Semantic Scholar
Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene
Isis Atallah, M. Quinodoz, Belinda Campos-Xavier, V. Peter +19 more
2021Clinical Genetics8 citations
Semantic Scholar
Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy
Karolina Kaminska, Francesca Cancellieri, M. Quinodoz, A. R. Moye +52 more
2025American Journal of Human Genetics7 citations Open access
Semantic Scholar
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression
Samantha Malka, P. Biswas, Anne-Marie Berry, Riccardo Sangermano +42 more
2024American Journal of Human Genetics7 citations Open access
Semantic Scholar
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
JC Corral-Serrano, Veronika Vaclavik, S. Van de Sompele, Karolina Kaminska +17 more
2025Human Molecular Genetics6 citations Open access
Semantic Scholar
Management of Full-Thickness Macular Hole in A Genetically Confirmed Case with Usher Syndrome
Evangelia S Panagiotou, T. Papathomas, K. Nikopoulos, Stavrenia C. Koukoula +5 more
2020Ophthalmology and Therapy6 citations Open access
Semantic Scholar
Bisretinoids as a Source of Early Photoreceptor Pathology in Stargardt Disease
N. Mata, Stephanie Weng, Michel Michaelides, Peter Charbel Issa +3 more
2025Ophthalmic Research5 citations Open access
Semantic Scholar
Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa
A. B. Iglesias-Romero, Karolina Kaminska, M. Quinodoz, Marc Folcher +9 more
2024American Journal of Human Genetics5 citations Open access
Semantic Scholar
Genetic Analysis of Consanguineous Pakistani Families with Congenital Stationary Night Blindness
Hafiz Muhammad Azhar Baig, Muhammad Ansar, Afia Iqbal, M. Naeem +4 more
2021Ophthalmic Research5 citations Open access
Semantic Scholar

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