Margarita Sharova

Affiliations

Research Centre for Medical Genetics, 115522 Moscow, Russia.

Publications (9)

Clinical Case of Mild Tatton-Brown-Rahman Syndrome Caused by a Nonsense Variant in

Clinics and practice

Avec: Fatima Bostanova , Olga Levchenko , Natalia Semenova

Case report: Unusual episodic myopathy in a patient with novel homozygous deletion of first coding exon of

Frontiers in neurology

Avec: Mikhail Skoblov , Elena Dadali , Nina Demina , Olga Shchagina , Fedor Konovalov , Maria Ampleeva , Inna Sharkova , Sergey Kutsev

Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report.

BMC medical genetics

Avec: Peter Sparber , Alexandra Filatova , Olga Shchagina , Evgeniya Ivanova , Elena Dadali , Mikhail Skoblov

Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing.

Brain : a journal of neurology

Avec: Peter Sparber , Ksenia Davydenko , Denis Pyankov , Alexandra Filatova , Mikhail Skoblov

Congenital myopathy as a new phenotype caused by two undescribed variants in ASCC1 gene.

American journal of medical genetics. Part A

Avec: Darya Guseva , Alexey Kurenkov , Olga Novoselova , Aysylu Murtazina , Mikhail Skoblov

Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected Ciliopathies.

Genes

Avec: Tatyana Markova , Maria Sumina , Marina Petukhova , Maria Bulakh , Oxana Ryzhkova , Tatyana Nagornova , Sofya Ionova , Andrey Marakhonov , Elena Dadali , Sergey Kutsev

Incidental germline findings during molecular profiling of tumor tissues for precision oncology: molecular survey and methodological obstacles.

Journal of translational medicine

Avec: Alexandra Lebedeva , Yulia Shaykhutdinova , Daria Seriak , Ekaterina Ignatova , Ekaterina Rozhavskaya , Divyasphoorthi Vardhan , Sofia Manicka , Tatiana Grigoreva , Ancha Baranova , Vladislav Mileyko , Maxim Ivanov

Citizen Science as an Ecosystem of Engagement: Implications for Learning and Broadening Participation.

Bioscience

Avec: Bradley C Allf , Caren B Cooper , Lincoln R Larson , Robert R Dunn , Sara E Futch , Maria Sharova , Darlene Cavalier

Utility of public knowledge bases for the interpretation of comprehensive tumor molecular profiling results.

Clinical and experimental medicine

Avec: Alexandra Lebedeva , Grigory Timokhin , Ekaterina Ignatova , Alexandra Kavun , Egor Veselovsky , Vladislav Mileyko , Valentina Yakushina , Olesya Kuznetsova , Maria Stepanova , Polina Shilo , Fedor Moiseenko , Nikita Volkov , Igor Plaksa , Andrey Isaev , Margarita Gayryan , Elizaveta Artemyeva , Albina Zhabina , Mikhail Kramchaninov , Valentina Shamrikova , Ilya Pokataev , Alexey Rumyantsev , Evgeny Ledin , Alexey Tryakin , Mikhail Fedyanin , Maxim Ivanov

Réseau de co-auteurs

Mikhail Skoblov 4 collaborations

Elena Dadali 3 collaborations

Olga Shchagina 2 collaborations

Sergey Kutsev 2 collaborations

Peter Sparber 2 collaborations

Alexandra Filatova 2 collaborations

Alexandra Lebedeva 2 collaborations

Ekaterina Ignatova 2 collaborations

Vladislav Mileyko 2 collaborations

Maxim Ivanov 2 collaborations

Fatima Bostanova 1 collaboration

Olga Levchenko 1 collaboration

Natalia Semenova 1 collaboration

Nina Demina 1 collaboration

Fedor Konovalov 1 collaboration

Maria Ampleeva 1 collaboration

Inna Sharkova 1 collaboration

Evgeniya Ivanova 1 collaboration

Ksenia Davydenko 1 collaboration

Denis Pyankov 1 collaboration

Darya Guseva 1 collaboration

Alexey Kurenkov 1 collaboration

Olga Novoselova 1 collaboration

Aysylu Murtazina 1 collaboration

Tatyana Markova 1 collaboration

Maria Sumina 1 collaboration

Marina Petukhova 1 collaboration

Maria Bulakh 1 collaboration

Oxana Ryzhkova 1 collaboration

Tatyana Nagornova 1 collaboration

Sofya Ionova 1 collaboration

Andrey Marakhonov 1 collaboration

Yulia Shaykhutdinova 1 collaboration

Daria Seriak 1 collaboration

Ekaterina Rozhavskaya 1 collaboration

Divyasphoorthi Vardhan 1 collaboration

Sofia Manicka 1 collaboration

Tatiana Grigoreva 1 collaboration

Ancha Baranova 1 collaboration

Bradley C Allf 1 collaboration

Caren B Cooper 1 collaboration

Lincoln R Larson 1 collaboration

Robert R Dunn 1 collaboration

Sara E Futch 1 collaboration

Maria Sharova 1 collaboration

Darlene Cavalier 1 collaboration

Grigory Timokhin 1 collaboration

Alexandra Kavun 1 collaboration

Egor Veselovsky 1 collaboration

Valentina Yakushina 1 collaboration

Olesya Kuznetsova 1 collaboration

Maria Stepanova 1 collaboration

Polina Shilo 1 collaboration

Fedor Moiseenko 1 collaboration

Nikita Volkov 1 collaboration

Igor Plaksa 1 collaboration

Andrey Isaev 1 collaboration

Margarita Gayryan 1 collaboration

Elizaveta Artemyeva 1 collaboration

Albina Zhabina 1 collaboration

Mikhail Kramchaninov 1 collaboration

Valentina Shamrikova 1 collaboration

Ilya Pokataev 1 collaboration

Alexey Rumyantsev 1 collaboration

Evgeny Ledin 1 collaboration

Alexey Tryakin 1 collaboration

Mikhail Fedyanin 1 collaboration