Svetlana Gorokhova (S Gorokhova)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 18

Top Venues

Scientific reports

Genetics in medicine : official journal of the American College of Medical Genetics

Science translational medicine

Annals of clinical and translational neurology

Rockefeller University (PHD)

This page only lists publications with an associated author ORCID identifier.

Education History

Rockefeller University

United States

PHD

Publications

Sandra Donkervoort, Martijn van de Locht, Dario Ronchi, Janine Reunert, Catriona A Mclean, Maha Saad Zaki, Rotem Orbach, Josine M de Winter, Stefan Conijn, Daan Hoomoedt, Osorio Lopes Abath Neto, Francesca Magri, Angela N Viaene, A Reghan Foley, Svetlana Gorokhova, Veronique Bolduc, Ying Hu, Nicole Acquaye, Laura Napoli, Julien H Park, Kalyan Immadisetty, Lee B Miles, Mona Essawi, Salar McModie, Leonardo F Ferreira, Simona Zanotti, Sarah B Neuhaus, Livija Medne, Nagham ElBagoury, Kory R Johnson, Yong Zhang, Nigel G Laing, Mark R Davis, Robert J Bryson-Richardson, Darren T Hwee, James J Hartman, Fady I Malik, Peter Michael Kekenes-Huskey, Giacomo Pietro Comi, Wessam E Sharaf-Eldin, Thorsten Marquardt, Gianina Ravenscroft, Carsten G Bonnemann, Coen A C Ottenheijm
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease. Science translational medicine 16 (741) (2024)
Sandra Donkervoort, Martijn van de Locht, Dario Ronchi, Janine Reunert, Catriona A Mclean, Maha Saad Zaki, Rotem Orbach, Josine M de Winter, Stefan Conijn, Daan Hoomoedt, Osorio Lopes Abath Neto, Francesca Magri, Angela N Viaene, A Reghan Foley, Svetlana Gorokhova, Veronique Bolduc, Ying Hu, Nicole Acquaye, Laura Napoli, Julien H Park, Kalyan Immadisetty, Lee B Miles, Mona Essawi, Salar McModie, Leonardo F Ferreira, Simona Zanotti, Sarah B Neuhaus, Livija Medne, Nagham ElBagoury, Kory R Johnson, Yong Zhang, Nigel G Laing, Mark R Davis, Robert J Bryson-Richardson, Darren T Hwee, James J Hartman, Fady I Malik, Peter Michael Kekenes-Huskey, Giacomo Pietro Comi, Wessam E Sharaf-Eldin, Thorsten Marquardt, Gianina Ravenscroft, Carsten G Bonnemann, Coen A C Ottenheijm
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease. Science translational medicine 16 (741) (2024)
Ozan Ozisik, Svetlana Gorokhova, Mathieu Cerino, Marc Bartoli, Anaïs Baudot
System-level analysis of genes mutated in muscular dystrophies reveals a functional pattern associated with muscle weakness distribution. Scientific reports 14 (1) (2024)
Shruthi Mohan, Shannon McNulty, Courtney Thaxton, Marwa Elnagheeb, Emma Owens, May Flowers, Teagan Nunnery, Autumn Self, Brooke Palus, Svetlana Gorokhova, April Kennedy, Zhiyv Niu, Mridul Johari, Alassane Baneye Maiga, Kelly Macalalad, Amanda R Clause, Jacques S Beckmann, Lucas Bronicki, Sandra T Cooper, Vijay S Ganesh, Peter B Kang, Akanchha Kesari, Monkol Lek, Jennifer Levy, Laura Rufibach, Marco Savarese, Melissa J Spencer, Volker Straub, Giorgio Tasca, Conrad C Weihl
Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy. Annals of clinical and translational neurology (2024)
Ozan Ozisik, Svetlana Gorokhova, Mathieu Cerino, Marc Bartoli, Anaïs Baudot
System-level analysis of genes mutated in muscular dystrophies reveals a functional pattern associated with muscle weakness distribution. Scientific reports 14 (1) (2024)
Sandra Donkervoort, Martijn van de Locht, Dario Ronchi, Janine Reunert, Catriona A Mclean, Maha Saad Zaki, Rotem Orbach, Josine M de Winter, Stefan Conijn, Daan Hoomoedt, Osorio Lopes Abath Neto, Francesca Magri, Angela N Viaene, A Reghan Foley, Svetlana Gorokhova, Veronique Bolduc, Ying Hu, Nicole Acquaye, Laura Napoli, Julien H Park, Kalyan Immadisetty, Lee B Miles, Mona Essawi, Salar McModie, Leonardo F Ferreira, Simona Zanotti, Sarah B Neuhaus, Livija Medne, Nagham ElBagoury, Kory R Johnson, Yong Zhang, Nigel G Laing, Mark R Davis, Robert J Bryson-Richardson, Darren T Hwee, James J Hartman, Fady I Malik, Peter Michael Kekenes-Huskey, Giacomo Pietro Comi, Wessam E Sharaf-Eldin, Thorsten Marquardt, Gianina Ravenscroft, Carsten G Bonnemann, Coen A C Ottenheijm
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease. Science translational medicine 16 (741) (2024)
Ozan Ozisik, Svetlana Gorokhova, Mathieu Cerino, Marc Bartoli, Anaïs Baudot
System-level analysis of genes mutated in muscular dystrophies reveals a functional pattern associated with muscle weakness distribution. Scientific reports 14 (1) (2024)
Shruthi Mohan, Shannon McNulty, Courtney Thaxton, Marwa Elnagheeb, Emma Owens, May Flowers, Teagan Nunnery, Autumn Self, Brooke Palus, Svetlana Gorokhova, April Kennedy, Zhiyv Niu, Mridul Johari, Alassane Baneye Maiga, Kelly Macalalad, Amanda R Clause, Jacques S Beckmann, Lucas Bronicki, Sandra T Cooper, Vijay S Ganesh, Peter B Kang, Akanchha Kesari, Monkol Lek, Jennifer Levy, Laura Rufibach, Marco Savarese, Melissa J Spencer, Volker Straub, Giorgio Tasca, Conrad C Weihl
Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy. Annals of clinical and translational neurology (2024)
Maria Francesca Di Feo, Ali Oghabian, Ella Nippala, Mathias Gautel, Heinz Jungbluth, Francesca Forzano, Edoardo Malfatti, Claudia Castiglioni, Ilona Krey, David Gomez Andres, Angela F Brady, Maria Iascone, Anna Cereda, Lidia Pezzani, Daniel Natera-de Benito, Andres Nascimiento Osorio, Berta Estévez Arias, Sergei A Kurbatov, Tania Attie-Bitach, Sheela Nampoothiri, Erin Ryan, Michelle Morrow, Svetlana Gorokhova, Brigitte Chabrol, Juha Sinisalo, Heli Tolppanen, Johanna Tolva, Francina Munell, Jessica Camacho Soriano, Maria Angeles Sanchez Duran, Mridul Johari, Homa Tajsharghi, Peter Hackman, Bjarne Udd, Marco Savarese
Inferring disease course from differential exon usage in the wide titinopathy spectrum. Annals of clinical and translational neurology (2024)
Maude Vecten, Emmanuelle Pion, Marc Bartoli, Raul Juntas Morales, Damien Sternberg, John Rendu, Tanya Stojkovic, Cécile Acquaviva Bourdain, Corinne Métay, Isabelle Richard, Mathieu Cerino, Mathieu Milh, Emmanuelle Campana-Salort, Svetlana Gorokhova, Nicolas Levy, Xénia Latypova, Gisèle Bonne, Valérie Biancalana, François Petit, Annamaria Molon, Aurélien Perrin, Pascal Laforêt, Shahram Attarian, Martin Krahn, Mireille Cossee
Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care. International journal of molecular sciences 23 (15) (2022)
Florence Riccardi, Alexandre Astier, Margot Grisval, Arnaud Maillard, Vincent Michaud, Catherine Badens, Christopher T Gordon, Aurélien Trimouille, Laurence Faivre, Jeanne Amiel, Sabine Sigaudy, Svetlana Gorokhova
Correspondence on "De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females" by Polla et al. Genetics in medicine : official journal of the American College of Medical Genetics 23 (10) (2021)
Sandra Donkervoort, Niklas Krause, Mykola Dergai, Pomi Yun, Judith Koliwer, Svetlana Gorokhova, Janelle Geist Hauserman, Beryl B Cummings, Ying Hu, Rosemarie Smith, Prech Uapinyoying, Vijay S Ganesh, Partha S Ghosh, Kristin G Monaghan, Seby L Edassery, Pia E Ferle, Sarah Silverstein, Katherine R Chao, Molly Snyder, Sara Ellingwood, Diana Bharucha-Goebel, Susan T Iannaccone, Matteo Dal Peraro, A Reghan Foley, Jeffrey N Savas, Veronique Bolduc, Dirk Fasshauer, Carsten G Bönnemann, Michael Schwake
BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy. EMBO molecular medicine 13 (12) (2021)
Philipp O Tsvetkov, Rémi Eyraud, Stéphane Ayache, Anton A Bougaev, Soazig Malesinski, Hamed Benazha, Svetlana Gorokhova, Christophe Buffat, Caroline Dehais, Marc Sanson, Franck Bielle, Dominique Figarella Branger, Olivier Chinot, Emeline Tabouret, François Devred
An AI-Powered Blood Test to Detect Cancer Using NanoDSF. Cancers 13 (6) (2021)
Théo Charnay, Véronique Blanck, Mathieu Cerino, Marc Bartoli, Florence Riccardi, Nathalie Bonello-Palot, Christophe Pécheux, Karine Nguyen, Nicolas Lévy, Svetlana Gorokhova, Martin Krahn
Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients. Genetics in medicine : official journal of the American College of Medical Genetics 23 (8) (2021)
Mark Gorokhov, Mathieu Cerino, Jérémie Mortreux, Florence Riccardi, Nicolas Lévy, Marc Bartoli, Martin Krahn, Svetlana Gorokhova
A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports. Scientific reports 10 (1) (2020)
Eugénie Dionnet, Aurelia Defour, Nathalie Da Silva, Alexandra Salvi, Nicolas Lévy, Martin Krahn, Marc Bartoli, Francesca Puppo, Svetlana Gorokhova
Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay. Human mutation 41 (10) (2020)
Mathieu Cerino, E Campana-Salort, A Salvi, Pascal Cintas, D Renard, R Juntas Morales, Céline Tard, F Leturcq, Kristl G Claeys, Nathalie Bonello-Palot, Svetlana Gorokhova, Jeremie Mortreux, A Maues De Paula, N Lévy, J Pouget, Mireille Cossee, Marc Bartoli, M Krahn, Shahram Attarian
Novel CAPN3 variant associated with an autosomal dominant calpainopathy. Neuropathology and applied neurobiology 46 (6) (2020)
Svetlana Gorokhova, Jeremie Mortreux, Alexandra Afenjar, Tania Attie-Bitach, Maud Blanluet, Valérie Cormier-Daire, Anne-Marie Guerrot, Anne-Sophie Lebre, Valérie Malan, Gaël Nicolas, Sophie Rondeau, Nicole Philip, Pascale Saugier-Veber, Catherine Badens, Chantal Missirian
Significant contribution of intragenic deletions to ARID1B mutation spectrum. Genetics in medicine : official journal of the American College of Medical Genetics 21 (11) (2019)

Svetlana Gorokhova.css-eqlu8i{font-size:small;padding-left:4px;} (S Gorokhova)

Publication Activity (10 Years)

Top Topics

Top Venues

Svetlana Gorokhova (S Gorokhova)