Mathieu Quinodoz

Affiliations
  • Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland.

Publications (43)

Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice.

PLoS genetics
Avec: Abigail R Moye , Nicola Bedoni , Jessica G Cunningham , Urikhan Sanzhaeva , Eric S Tucker , Peter Mathers , Virginie G Peter , Mathieu Quinodoz , Liliana P Paris , Luísa Coutinho-Santos , Pedro Camacho , Madeleine G Purcell , Abbie C Winkelmann , James A Foster , Elena N Pugacheva , Carlo Rivolta , Visvanathan Ramamurthy

Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature.

BMC neurology
Avec: Filipa Bastos , Mathieu Quinodoz , Marie-Claude Addor , Beryl Royer-Bertrand , Heidi Fodstad , Carlo Rivolta , Claudia Poloni , Andrea Superti-Furga , Eliane Roulet-Perez , Sebastien Lebon

Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous

Genes
Avec: Sébastien Lebon , Mathieu Quinodoz , Virginie G Peter , Carole Gengler , Gaëlle Blanchard , Viviane Cina , Belinda Campos-Xavier , Carlo Rivolta , Andrea Superti-Furga

New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV.

Human mutation
Avec: Virginie G Peter , Mathieu Quinodoz , Silvia Sadio , Sebastian Held , Márcia Rodrigues , Marta Soares , Ana Berta Sousa , Luisa Coutinho Santos , Markus Damme , Carlo Rivolta

Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene.

Clinical genetics
Avec: Isis Atallah , Mathieu Quinodoz , Belinda Campos-Xavier , Virginie G Peter , Athina Fouriki , Christophe Bonvin , Armand Bottani , Camille Kumps , Federica Angelini , Felicitas Bellutti Enders , Stéphanie Christen-Zaech , Mattia Rizzi , Raffaele Renella , Maja Beck-Popovic , Claudia Poloni , Valérie Frossard , Jean-Louis Blouin , Carlo Rivolta , Orbicia Riccio , Fabio Candotti , Michael Hofer , Sheila Unger , Andrea Superti-Furga

AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data.

Nature communications
Avec: Mathieu Quinodoz , Virginie G Peter , Nicola Bedoni , Béryl Royer Bertrand , Katarina Cisarova , Arash Salmaninejad , Neda Sepahi , Raquel Rodrigues , Mehran Piran , Majid Mojarrad , Alireza Pasdar , Ali Ghanbari Asad , Ana Berta Sousa , Luisa Coutinho Santos , Andrea Superti-Furga , Carlo Rivolta

c.-61G>A in OVOL2 is a Pathogenic 5' Untranslated Region Variant Causing Posterior Polymorphous Corneal Dystrophy 1.

Cornea
Avec: Lucas Janeschitz-Kriegl , Dhryata Kamdar , Mathieu Quinodoz , Karolina Kaminska , Marc Folcher , Bence György , Peter Meyer , Andreas Wild , Pascal Escher , Hendrik P N Scholl , Carlo Rivolta , David Goldblum

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
Avec: Mathieu Quinodoz , Karolina Kaminska , Francesca Cancellieri , Ji Hoon Han , Virginie G Peter , Elifnaz Celik , Lucas Janeschitz-Kriegl , Nils Schärer , Daniela Hauenstein , Bence György , Giacomo Calzetti , Vincent Hahaut , Sónia Custódio , Ana Cristina Sousa , Yuko Wada , Yusuke Murakami , Almudena Avila Fernández , Cristina Rodilla Hernández , Pablo Minguez , Carmen Ayuso , Koji M Nishiguchi , Cristina Santos , Luisa Coutinho Santos , Viet H Tran , Veronika Vaclavik , Hendrik P N Scholl , Carlo Rivolta

The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Virginie G Peter , Mathieu Quinodoz , Jorge Pinto-Basto , Sergio B Sousa , Silvio Alessandro Di Gioia , Gabriela Soares , Gabriela Ferraz Leal , Eduardo D Silva , Rosanna Pescini Gobert , Noriko Miyake , Naomichi Matsumoto , Elizabeth C Engle , Sheila Unger , Frederic Shapiro , Andrea Superti-Furga , Carlo Rivolta , Belinda Campos-Xavier

Biallelic variants in

Journal of medical genetics
Avec: Maria Lisa Dentici , Viola Alesi , Mathieu Quinodoz , Barbara Robens , Andrea Guerin , Sébastien Lebon , Annapurna Poduri , Lorena Travaglini , Federica Graziola , Alexandra Afenjar , Boris Keren , Valerio Licursi , Alessandro Capuano , Bruno Dallapiccola , Andrea Superti-Furga , Antonio Novelli

Identification of New Vulnerabilities in Conjunctival Melanoma Using Image-Based High Content Drug Screening.

Cancers
Avec: Katya Nardou , Michael Nicolas , Fabien Kuttler , Katarina Cisarova , Elifnaz Celik , Mathieu Quinodoz , Nicolo Riggi , Olivier Michielin , Carlo Rivolta , Gerardo Turcatti , Alexandre Pierre Moulin

The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.

PNAS nexus
Avec: Virginie G Peter , Karolina Kaminska , Cristina Santos , Mathieu Quinodoz , Francesca Cancellieri , Katarina Cisarova , Rosanna Pescini Gobert , Raquel Rodrigues , Sónia Custódio , Liliana P Paris , Ana Berta Sousa , Luisa Coutinho Santos , Carlo Rivolta

TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa.

JCI insight
Avec: Béatrice Bocquet , Caroline Borday , Nejla Erkilic , Daria Mamaeva , Alicia Donval , Christel Masson , Karine Parain , Karolina Kaminska , Mathieu Quinodoz , Irene Perea-Romero , Gema Garcia-Garcia , Carla Jimenez-Medina , Hassan Boukhaddaoui , Arthur Coget , Nicolas Leboucq , Giacomo Calzetti , Stefano Gandolfi , Antonio Percesepe , Valeria Barili , Vera Uliana , Marco Delsante , Francesca Bozzetti , Hendrik Pn Scholl , Marta Corton , Carmen Ayuso , Jose M Millan , Carlo Rivolta , Isabelle Meunier , Muriel Perron , Vasiliki Kalatzis

Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies.

Scientific reports
Avec: Arash Salmaninejad , Nicola Bedoni , Zeinab Ravesh , Mathieu Quinodoz , Nasser Shoeibi , Majid Mojarrad , Alireza Pasdar , Carlo Rivolta

Whole-exome sequencing in a consanguineous Pakistani family identifies a mutational hotspot in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa.

Clinical dysmorphology
Avec: Atta Ur Rehman , Virginie G Peter , Mathieu Quinodoz , Muhammad Dawood , Carlo Rivolta

An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.

Human molecular genetics
Avec: Nicola Bedoni , Mathieu Quinodoz , Michele Pinelli , Gerarda Cappuccio , Annalaura Torella , Vincenzo Nigro , Francesco Testa , Francesca Simonelli , Auteur inconnu , Marta Corton , Susanna Lualdi , Federica Lanza , Giovanni Morana , Carmen Ayuso , Maja Di Rocco , Mirella Filocamo , Sandro Banfi , Nicola Brunetti-Pierri , Andrea Superti-Furga , Carlo Rivolta

CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels.

eLife
Avec: André Brás Gonçalves , Sarah Kirstine Hasselbalch , Beinta Biskopstø Joensen , Sebastian Patzke , Pernille Martens , Signe Krogh Ohlsen , Mathieu Quinodoz , Konstantinos Nikopoulos , Reem Suleiman , Magnus Per Damsø Jeppesen , Catja Weiss , Søren Tvorup Christensen , Carlo Rivolta , Jens S Andersen , Pietro Farinelli , Lotte Bang Pedersen

NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.

Human genetics
Avec: I Perea-Romero , F Blanco-Kelly , I Sanchez-Navarro , I Lorda-Sanchez , S Tahsin-Swafiri , A Avila-Fernandez , I Martin-Merida , M J Trujillo-Tiebas , R Lopez-Rodriguez , M Rodriguez de Alba , I F Iancu , R Romero , M Quinodoz , H Hakonarson , Blanca Garcia-Sandova , P Minguez , M Corton , C Rivolta , C Ayuso

Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.

NPJ genomic medicine
Avec: Riccardo Sangermano , Iris Deitch , Virginie G Peter , Rola Ba-Abbad , Emily M Place , Erin Zampaglione , Naomi E Wagner , Anne B Fulton , Luisa Coutinho-Santos , Boris Rosin , Vincent Dunet , Ala'a AlTalbishi , Eyal Banin , Ana Berta Sousa , Mariana Neves , Anna Larson , Mathieu Quinodoz , Michel Michaelides , Tamar Ben-Yosef , Eric A Pierce , Carlo Rivolta , Andrew R Webster , Gavin Arno , Dror Sharon , Rachel M Huckfeldt , Kinga M Bujakowska

Genetic Analysis of Consanguineous Pakistani Families with Congenital Stationary Night Blindness.

Ophthalmic research
Avec: Hafiz Muhammad Azhar Baig , Muhammad Ansar , Afia Iqbal , Muhammad Asif Naeem , Mathieu Quinodoz , Giacomo Calzetti , Muhammad Iqbal , Carlo Rivolta

Herpes simplex encephalitis due to a mutation in an E3 ubiquitin ligase.

Nature communications
Avec: Stéphanie Bibert , Mathieu Quinodoz , Sylvain Perriot , Fanny S Krebs , Maxime Jan , Rita C Malta , Emilie Collinet , Mathieu Canales , Amandine Mathias , Nicole Faignart , Eliane Roulet-Perez , Pascal Meylan , René Brouillet , Onya Opota , Leyder Lozano-Calderon , Florence Fellmann , Nicolas Guex , Vincent Zoete , Sandra Asner , Carlo Rivolta , Renaud Du Pasquier , Pierre-Yves Bochud

Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.

Human molecular genetics
Avec: Malena Daich Varela , James Bellingham , Fabiana Motta , Neringa Jurkute , Jamie M Ellingford , Mathieu Quinodoz , Kathryn Oprych , Michael Niblock , Lucas Janeschitz-Kriegl , Karolina Kaminska , Francesca Cancellieri , Hendrik P N Scholl , Eva Lenassi , Elena Schiff , Hannah Knight , Graeme Black , Carlo Rivolta , Michael E Cheetham , Michel Michaelides , Omar A Mahroo , Anthony T Moore , Andrew R Webster , Gavin Arno

Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.

PLoS genetics
Avec: Guillaume Butler-Laporte , Gundula Povysil , Jack A Kosmicki , Elizabeth T Cirulli , Theodore Drivas , Simone Furini , Chadi Saad , Axel Schmidt , Pawel Olszewski , Urszula Korotko , Mathieu Quinodoz , Elifnaz Çelik , Kousik Kundu , Klaudia Walter , Junghyun Jung , Amy D Stockwell , Laura G Sloofman , Daniel M Jordan , Ryan C Thompson , Diane Del Valle , Nicole Simons , Esther Cheng , Robert Sebra , Eric E Schadt , Seunghee Kim-Schulze , Sacha Gnjatic , Miriam Merad , Joseph D Buxbaum , Noam D Beckmann , Alexander W Charney , Bartlomiej Przychodzen , Timothy Chang , Tess D Pottinger , Ning Shang , Fabian Brand , Francesca Fava , Francesca Mari , Karolina Chwialkowska , Magdalena Niemira , Szymon Pula , J Kenneth Baillie , Alex Stuckey , Antonio Salas , Xabier Bello , Jacobo Pardo-Seco , Alberto Gómez-Carballa , Irene Rivero-Calle , Federico Martinón-Torres , Andrea Ganna , Konrad J Karczewski , Kumar Veerapen , Mathieu Bourgey , Guillaume Bourque , Robert Jm Eveleigh , Vincenzo Forgetta , David Morrison , David Langlais , Mark Lathrop , Vincent Mooser , Tomoko Nakanishi , Robert Frithiof , Michael Hultström , Miklos Lipcsey , Yanara Marincevic-Zuniga , Jessica Nordlund , Kelly M Schiabor Barrett , William Lee , Alexandre Bolze , Simon White , Stephen Riffle , Francisco Tanudjaja , Efren Sandoval , Iva Neveux , Shaun Dabe , Nicolas Casadei , Susanne Motameny , Manal Alaamery , Salam Massadeh , Nora Aljawini , Mansour S Almutairi , Yaseen M Arabi , Saleh A Alqahtani , Fawz S Al Harthi , Amal Almutairi , Fatima Alqubaishi , Sarah Alotaibi , Albandari Binowayn , Ebtehal A Alsolm , Hadeel El Bardisy , Mohammad Fawzy , Fang Cai , Nicole Soranzo , Adam Butterworth , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Daniel H Geschwind , Stephanie Arteaga , Alexis Stephens , Manish J Butte , Paul C Boutros , Takafumi N Yamaguchi , Shu Tao , Stefan Eng , Timothy Sanders , Paul J Tung , Michael E Broudy , Yu Pan , Alfredo Gonzalez , Nikhil Chavan , Ruth Johnson , Bogdan Pasaniuc , Brian Yaspan , Sandra Smieszek , Carlo Rivolta , Stephanie Bibert , Pierre-Yves Bochud , Maciej Dabrowski , Pawel Zawadzki , Mateusz Sypniewski , Elżbieta Kaja , Pajaree Chariyavilaskul , Voraphoj Nilaratanakul , Nattiya Hirankarn , Vorasuk Shotelersuk , Monnat Pongpanich , Chureerat Phokaew , Wanna Chetruengchai , Katsushi Tokunaga , Masaya Sugiyama , Yosuke Kawai , Takanori Hasegawa , Tatsuhiko Naito , Ho Namkoong , Ryuya Edahiro , Akinori Kimura , Seishi Ogawa , Takanori Kanai , Koichi Fukunaga , Yukinori Okada , Seiya Imoto , Satoru Miyano , Serghei Mangul , Malak S Abedalthagafi , Hugo Zeberg , Joseph J Grzymski , Nicole L Washington , Stephan Ossowski , Kerstin U Ludwig , Eva C Schulte , Olaf Riess , Marcin Moniuszko , Miroslaw Kwasniewski , Hamdi Mbarek , Said I Ismail , Anurag Verma , David B Goldstein , Krzysztof Kiryluk , Alessandra Renieri , Manuel A R Ferreira , J Brent Richards

Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in

Genes
Avec: Atta Ur Rehman , Virginie G Peter , Mathieu Quinodoz , Abdur Rashid , Syed Akhtar Khan , Andrea Superti-Furga , Carlo Rivolta

Management of Full-Thickness Macular Hole in A Genetically Confirmed Case with Usher Syndrome.

Ophthalmology and therapy
Avec: Evangelia S Panagiotou , Thomas Papathomas , Konstantinos Nikopoulos , Stavrenia Koukoula , Mathieu Quinodoz , Atta Ur Rehman , Theodoros Giannopoulos , Carlo Rivolta , Anastasios G Konstas

A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy.

Nature communications
Avec: Konstantinos Nikopoulos , Katarina Cisarova , Mathieu Quinodoz , Hanna Koskiniemi-Kuendig , Noriko Miyake , Pietro Farinelli , Atta Ur Rehman , Muhammad Imran Khan , Andrea Prunotto , Masato Akiyama , Yoichiro Kamatani , Chikashi Terao , Fuyuki Miya , Yasuhiro Ikeda , Shinji Ueno , Nobuo Fuse , Akira Murakami , Yuko Wada , Hiroko Terasaki , Koh-Hei Sonoda , Tatsuro Ishibashi , Michiaki Kubo , Frans P M Cremers , Zoltán Kutalik , Naomichi Matsumoto , Koji M Nishiguchi , Toru Nakazawa , Carlo Rivolta

A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa.

Ophthalmic genetics
Avec: Virginie G Peter , Konstantinos Nikopoulos , Mathieu Quinodoz , Lotta Granse , Pietro Farinelli , Andrea Superti-Furga , Sten Andréasson , Carlo Rivolta

Transcriptomic Signature Differences Between SARS-CoV-2 and Influenza Virus Infected Patients.

Frontiers in immunology
Avec: Stéphanie Bibert , Nicolas Guex , Joao Lourenco , Thomas Brahier , Matthaios Papadimitriou-Olivgeris , Lauro Damonti , Oriol Manuel , Robin Liechti , Lou Götz , Jonathan Tschopp , Mathieu Quinodoz , Peter Vollenweider , Jean-Luc Pagani , Mauro Oddo , Olivier Hügli , Frédéric Lamoth , Véronique Erard , Cathy Voide , Mauro Delorenzi , Nathalie Rufer , Fabio Candotti , Carlo Rivolta , Noémie Boillat-Blanco , Pierre-Yves Bochud , Auteur inconnu

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Lance H Rodan , Rebecca C Spillmann , Harley T Kurata , Shawn M Lamothe , Jasmine Maghera , Rami Abou Jamra , Anna Alkelai , Stylianos E Antonarakis , Isis Atallah , Omer Bar-Yosef , Frédéric Bilan , Kathrine Bjorgo , Xavier Blanc , Patrick Van Bogaert , Yoav Bolkier , Lindsay C Burrage , Björn U Christ , Jorge L Granadillo , Patricia Dickson , Kirsten A Donald , Christèle Dubourg , Aviva Eliyahu , Lisa Emrick , Kendra Engleman , Michaela Veronika Gonfiantini , Jean-Marc Good , Judith Kalser , Chiara Kloeckner , Guus Lachmeijer , Marina Macchiaiolo , Francesco Nicita , Sylvie Odent , Emily O'Heir , Xilma Ortiz-Gonzalez , Marta Pacio-Miguez , María Palomares-Bralo , Loren Pena , Konrad Platzer , Mathieu Quinodoz , Emmanuelle Ranza , Jill A Rosenfeld , Eliane Roulet-Perez , Avni Santani , Fernando Santos-Simarro , Ben Pode-Shakked , Cara Skraban , Rachel Slaugh , Andrea Superti-Furga , Isabelle Thiffault , Richard H van Jaabrsveld , Marie Vincent , Hong-Gang Wang , Pia Zacher , Auteur inconnu , Eric Rush , Geoffrey S Pitt , Ping Yee Billie Au , Vandana Shashi

Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity.

American journal of human genetics
Avec: Mathieu Quinodoz , Virginie G Peter , Katarina Cisarova , Beryl Royer-Bertrand , Peter D Stenson , David N Cooper , Sheila Unger , Andrea Superti-Furga , Carlo Rivolta

Fast and highly sensitive full-length single-cell RNA sequencing using FLASH-seq.

Nature biotechnology
Avec: Vincent Hahaut , Dinko Pavlinic , Walter Carbone , Sven Schuierer , Pierre Balmer , Mathieu Quinodoz , Magdalena Renner , Guglielmo Roma , Cameron S Cowan , Simone Picelli

The p.C759F variant in USH2A is a pathogenic mutation: systematic literature review and meta-analysis of 667 genotypes.

Ophthalmic research
Avec: Ji Hoon Han , Francesca Cancellieri , Irene Perea-Romero , Carmen Ayuso , Mathieu Quinodoz , Carlo Rivolta

Herpes simplex encephalitis in adult patients with MASP-2 deficiency.

PLoS pathogens
Avec: Stéphanie Bibert , Jocelyne Piret , Mathieu Quinodoz , Emilie Collinet , Vincent Zoete , Olivier Michielin , Rafik Menasria , Pascal Meylan , Titus Bihl , Véronique Erard , Florence Fellmann , Carlo Rivolta , Guy Boivin , Pierre-Yves Bochud

Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies.

Scientific reports
Avec: Atta Ur Rehman , Neda Sepahi , Nicola Bedoni , Zeinab Ravesh , Arash Salmaninejad , Francesca Cancellieri , Virginie G Peter , Mathieu Quinodoz , Majid Mojarrad , Alireza Pasdar , Ali Ghanbari Asad , Saman Ghalamkari , Mehran Piran , Mehrdad Piran , Andrea Superti-Furga , Carlo Rivolta

Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder.

Human molecular genetics
Avec: Ji Hoon Han , Gavin Ryan , Alyson Guy , Lu Liu , Mathieu Quinodoz , Ingrid Helbling , Joey E Lai-Cheong , Auteur inconnu , Julian Barwell , Marc Folcher , John A McGrath , Celia Moss , Carlo Rivolta

Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator.

Nature
Avec: Lila Allou , Sara Balzano , Andreas Magg , Mathieu Quinodoz , Beryl Royer-Bertrand , Robert Schöpflin , Wing-Lee Chan , Carlos E Speck-Martins , Daniel Rocha Carvalho , Luciano Farage , Charles Marques Lourenço , Regina Albuquerque , Srilakshmi Rajagopal , Sheela Nampoothiri , Belinda Campos-Xavier , Carole Chiesa , Florence Niel-Bütschi , Lars Wittler , Bernd Timmermann , Malte Spielmann , Michael I Robson , Alessa Ringel , Verena Heinrich , Giulia Cova , Guillaume Andrey , Cesar A Prada-Medina , Rosanna Pescini-Gobert , Sheila Unger , Luisa Bonafé , Phillip Grote , Carlo Rivolta , Stefan Mundlos , Andrea Superti-Furga

Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype.

NPJ genomic medicine
Avec: Neringa Jurkute , Francesca Cancellieri , Lisa Pohl , Catherina H Z Li , Robert A Heaton , Janine Reurink , James Bellingham , Mathieu Quinodoz , Georgia Yioti , Maria Stefaniotou , Marianna Weener , Theresia Zuleger , Tobias B Haack , Katarina Stingl , Auteur inconnu , Carel B Hoyng , Omar A Mahroo , Iain Hargreaves , F Lucy Raymond , Michel Michaelides , Carlo Rivolta , Susanne Kohl , Susanne Roosing , Andrew R Webster , Gavin Arno

A Novel Intronic Deletion in PDE6B Causes Autosomal Recessive Retinitis Pigmentosa by Interfering with RNA Splicing.

Ophthalmic research
Avec: Mukhtar Ullah , Atta Ur Rehman , Marc Folcher , Adnan Ullah , Faisal Usman , Abdur Rashid , Bilal Khan , Mathieu Quinodoz , Muhammad Ansar , Carlo Rivolta

In-depth molecular profiling of an intronic GNAO1 mutant as the basis for personalized high-throughput drug screening.

Med (New York, N.Y.)
Avec: Alexey Koval , Yonika A Larasati , Mikhail Savitsky , Gonzalo P Solis , Jean-Marc Good , Mathieu Quinodoz , Carlo Rivolta , Andrea Superti-Furga , Vladimir L Katanaev

Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction.

American journal of human genetics
Avec: Miriam Bauwens , Elifnaz Celik , Dinah Zur , Siying Lin , Mathieu Quinodoz , Michel Michaelides , Andrew R Webster , Filip Van Den Broeck , Bart P Leroy , Leah Rizel , Abigail R Moye , Audrey Meunier , Hoai Viet Tran , Alexandre P Moulin , Quinten Mahieu , Mattias Van Heetvelde , Gavin Arno , Carlo Rivolta , Elfride De Baere , Tamar Ben-Yosef

Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Ji Hoon Han , Kim Rodenburg , Tamar Hayman , Giacomo Calzetti , Karolina Kaminska , Mathieu Quinodoz , Molly Marra , Sandrine Wallerich , Gilad Allon , Zoltán Z Nagy , Krisztina Knézy , Yumei Li , Rui Chen , Mirella Telles Salgueiro Barboni , Paul Yang , Mark E Pennesi , L Ingeborgh van den Born , Balázs Varsányi , Viktória Szabó , Dror Sharon , Eyal Banin , Tamar Ben-Yosef , Susanne Roosing , Robert K Koenekoop , Carlo Rivolta

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
Avec: Samantha Malka , Pooja Biswas , Anne-Marie Berry , Riccardo Sangermano , Mukhtar Ullah , Siying Lin , Matteo D'Antonio , Aleksandr Jestin , Xiaodong Jiao , Mathieu Quinodoz , Lori Sullivan , Jessica C Gardner , Emily M Place , Michel Michaelides , Karolina Kaminska , Omar A Mahroo , Elena Schiff , Genevieve Wright , Francesca Cancellieri , Veronika Vaclavik , Cristina Santos , Atta Ur Rehman , Sudeep Mehrotra , Hafiz Muhammad Azhar Baig , Muhammad Iqbal , Muhammad Ansar , Luisa Coutinho Santos , Ana Berta Sousa , Viet H Tran , Hiroko Matsui , Anjana Bhatia , Muhammad Asif Naeem , Shehla J Akram , Javed Akram , Sheikh Riazuddin , Carmen Ayuso , Eric A Pierce , Alison J Hardcastle , S Amer Riazuddin , Kelly A Frazer , J Fielding Hejtmancik , Carlo Rivolta , Kinga M Bujakowska , Gavin Arno , Andrew R Webster , Radha Ayyagari

Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa.

American journal of human genetics
Avec: Ana Belén Iglesias-Romero , Karolina Kaminska , Mathieu Quinodoz , Marc Folcher , Siying Lin , Gavin Arno , Joaquim Calado , Andrew R Webster , Alexandre Moulin , Ana Berta Sousa , Luisa Coutinho-Santos , Cristina Santos , Carlo Rivolta

Réseau de co-auteurs

Carlo Rivolta 39 collaborations
Virginie G Peter 14 collaborations
Andrea Superti-Furga 14 collaborations
None None 13 collaborations
Karolina Kaminska 8 collaborations
Francesca Cancellieri 7 collaborations
Atta Ur Rehman 7 collaborations
Ana Berta Sousa 6 collaborations
Andrew R Webster 6 collaborations
Gavin Arno 6 collaborations
Nicola Bedoni 5 collaborations
Luisa Coutinho Santos 5 collaborations
Katarina Cisarova 5 collaborations
Carmen Ayuso 5 collaborations
Michel Michaelides 5 collaborations
Belinda Campos-Xavier 4 collaborations
Sheila Unger 4 collaborations
Marc Folcher 4 collaborations
Ji Hoon Han 4 collaborations
Giacomo Calzetti 4 collaborations
Cristina Santos 4 collaborations
Konstantinos Nikopoulos 4 collaborations
Pierre-Yves Bochud 4 collaborations
Beryl Royer-Bertrand 3 collaborations
Eliane Roulet-Perez 3 collaborations
Arash Salmaninejad 3 collaborations
Majid Mojarrad 3 collaborations
Alireza Pasdar 3 collaborations
Lucas Janeschitz-Kriegl 3 collaborations
Hendrik P N Scholl 3 collaborations
Elifnaz Celik 3 collaborations
Pietro Farinelli 3 collaborations
Tamar Ben-Yosef 3 collaborations
Muhammad Ansar 3 collaborations
Stéphanie Bibert 3 collaborations
Omar A Mahroo 3 collaborations
Siying Lin 3 collaborations
Abigail R Moye 2 collaborations
Liliana P Paris 2 collaborations
Claudia Poloni 2 collaborations
Sébastien Lebon 2 collaborations
Isis Atallah 2 collaborations
Fabio Candotti 2 collaborations
Neda Sepahi 2 collaborations
Raquel Rodrigues 2 collaborations
Mehran Piran 2 collaborations
Ali Ghanbari Asad 2 collaborations
Bence György 2 collaborations
Vincent Hahaut 2 collaborations
Sónia Custódio 2 collaborations
Yuko Wada 2 collaborations
Koji M Nishiguchi 2 collaborations
Viet H Tran 2 collaborations
Veronika Vaclavik 2 collaborations
Rosanna Pescini Gobert 2 collaborations
Noriko Miyake 2 collaborations
Naomichi Matsumoto 2 collaborations
Olivier Michielin 2 collaborations
Irene Perea-Romero 2 collaborations
Marta Corton 2 collaborations
Zeinab Ravesh 2 collaborations
Riccardo Sangermano 2 collaborations
Emily M Place 2 collaborations
Luisa Coutinho-Santos 2 collaborations
Eyal Banin 2 collaborations
Eric A Pierce 2 collaborations
Dror Sharon 2 collaborations
Kinga M Bujakowska 2 collaborations
Hafiz Muhammad Azhar Baig 2 collaborations
Muhammad Asif Naeem 2 collaborations
Muhammad Iqbal 2 collaborations
Emilie Collinet 2 collaborations
Pascal Meylan 2 collaborations
Florence Fellmann 2 collaborations
Nicolas Guex 2 collaborations
Vincent Zoete 2 collaborations
James Bellingham 2 collaborations
Neringa Jurkute 2 collaborations
Elena Schiff 2 collaborations
Abdur Rashid 2 collaborations
Véronique Erard 2 collaborations
Jean-Marc Good 2 collaborations
Susanne Roosing 2 collaborations
Mukhtar Ullah 2 collaborations
Jessica G Cunningham 1 collaboration
Urikhan Sanzhaeva 1 collaboration
Eric S Tucker 1 collaboration
Peter Mathers 1 collaboration
Luísa Coutinho-Santos 1 collaboration
Pedro Camacho 1 collaboration
Madeleine G Purcell 1 collaboration
Abbie C Winkelmann 1 collaboration
James A Foster 1 collaboration
Elena N Pugacheva 1 collaboration
Visvanathan Ramamurthy 1 collaboration
Filipa Bastos 1 collaboration
Marie-Claude Addor 1 collaboration
Heidi Fodstad 1 collaboration
Sebastien Lebon 1 collaboration
Carole Gengler 1 collaboration
Gaëlle Blanchard 1 collaboration
Viviane Cina 1 collaboration
Silvia Sadio 1 collaboration
Sebastian Held 1 collaboration
Márcia Rodrigues 1 collaboration
Marta Soares 1 collaboration
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