Alexandra Filatova

Affiliations

Research Centre for Medical Genetics, Moscow, Russia.

Publications (9)

Various haploinsufficiency mechanisms in Pitt-Hopkins syndrome.

European journal of medical genetics

Avec: Peter Sparber , Alexandra Filatova , Inga Anisimova , Tatiana Markova , Viktoria Voinova , Alena Chuhrova , Vyacheslav Tabakov , Mikhail Skoblov

Clinical and Functional Characteristics of the E92K

International journal of molecular sciences

Avec: Elena Kondratyeva , Yuliya Melyanovskaya , Nataliya Bulatenko , Ksenia Davydenko , Alexandra Filatova , Anna Efremova , Mikhail Skoblov , Tatiana Bukharova , Viktoriya Sherman , Anna Voronkova , Elena Zhekaite , Stanislav Krasovskiy , Elena Amelina , Nika Petrova , Alexander Polyakov , Tagui Adyan , Marina Starinova , Maria Krasnova , Andrey Vasilyev , Oleg Makhnach , Rena Zinchenko , Sergey Kutsev , Yasemin Gokdemir , Bülent Karadag , Dmitry Goldshtein

Cases report: Mosaic structural variants of the

Frontiers in genetics

Avec: Artem Borovikov , Andrey Marakhonov , Aysylu Murtazina , Kseniya Davydenko , Alexandra Filatova , Nailya Galeeva , Varvara Kadnikova , Natalya Ogorodova , Daria Gorodilova , Ilya Kanivets , Denis Pyankov , Konstantin Zherdev , Aleksandr Petel'guzov , Pavel Zubkov , Alexander Polyakov , Olga Shchagina , Mikhail Skoblov

Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects.

Nature communications

Avec: Alina Filatova , Linda K Rey , Marion B Lechler , Jörg Schaper , Maja Hempel , Renata Posmyk , Krzysztof Szczaluba , Gijs W E Santen , Dagmar Wieczorek , Ulrike A Nuber

Complex Transposon Insertion as a Novel Cause of Pompe Disease.

International journal of molecular sciences

Avec: Igor Bychkov , Galina Baydakova , Alexandra Filatova , Ochir Migiaev , Andrey Marakhonov , Nataliya Pechatnikova , Ekaterina Pomerantseva , Fedor Konovalov , Maria Ampleeva , Vladimir Kaimonov , Mikhail Skoblov , Ekaterina Zakharova

Functional Analysis of the

International journal of molecular sciences

Avec: Igor Bychkov , Artur Galushkin , Alexandra Filatova , Andrey Nekrasov , Marina Kurkina , Galina Baydakova , Alexandra Ilyushkina , Mikhail Skoblov , Ekaterina Zakharova

Additive effect of frequent polymorphism and rare synonymous variant alters splicing in twin patients with Niemann-Pick disease type C.

European journal of human genetics : EJHG

Avec: Igor Bychkov , Alexandra Filatova , Grigory Perelman , Tatiana Proshlyakova , Daria Korotkova , Sergey Klyushnikov , Maria Karpova , Vyacheslav Tabakov , Galina Baydakova , Alexandra Ilyushkina , Mikhail Skoblov , Ekaterina Zakharova

Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape.

NPJ genomic medicine

Avec: Igor Bychkov , Antonina Kuznetsova , Galina Baydakova , Leonid Gorobets , Vladimir Kenis , Alena Dimitrieva , Alexandra Filatova , Vyacheslav Tabakov , Mikhail Skoblov , Ekaterina Zakharova

CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report.

BMC nephrology

Avec: Svetlana Papizh , Victoria Serzhanova , Alexandra Filatova , Mikhail Skoblov , Vyacheslav Tabakov , Lambert van den Heuvel , Elena Levtchenko , Larisa Prikhodina

Réseau de co-auteurs

Mikhail Skoblov 8 collaborations

Vyacheslav Tabakov 4 collaborations

Igor Bychkov 4 collaborations

Galina Baydakova 4 collaborations

Ekaterina Zakharova 4 collaborations

Alexander Polyakov 2 collaborations

Andrey Marakhonov 2 collaborations

Alexandra Ilyushkina 2 collaborations

Peter Sparber 1 collaboration

Inga Anisimova 1 collaboration

Tatiana Markova 1 collaboration

Viktoria Voinova 1 collaboration

Alena Chuhrova 1 collaboration

Elena Kondratyeva 1 collaboration

Yuliya Melyanovskaya 1 collaboration

Nataliya Bulatenko 1 collaboration

Ksenia Davydenko 1 collaboration

Anna Efremova 1 collaboration

Tatiana Bukharova 1 collaboration

Viktoriya Sherman 1 collaboration

Anna Voronkova 1 collaboration

Elena Zhekaite 1 collaboration

Stanislav Krasovskiy 1 collaboration

Elena Amelina 1 collaboration

Nika Petrova 1 collaboration

Tagui Adyan 1 collaboration

Marina Starinova 1 collaboration

Maria Krasnova 1 collaboration

Andrey Vasilyev 1 collaboration

Oleg Makhnach 1 collaboration

Rena Zinchenko 1 collaboration

Sergey Kutsev 1 collaboration

Yasemin Gokdemir 1 collaboration

Bülent Karadag 1 collaboration

Dmitry Goldshtein 1 collaboration

Artem Borovikov 1 collaboration

Aysylu Murtazina 1 collaboration

Kseniya Davydenko 1 collaboration

Nailya Galeeva 1 collaboration

Varvara Kadnikova 1 collaboration

Natalya Ogorodova 1 collaboration

Daria Gorodilova 1 collaboration

Ilya Kanivets 1 collaboration

Denis Pyankov 1 collaboration

Konstantin Zherdev 1 collaboration

Aleksandr Petel'guzov 1 collaboration

Pavel Zubkov 1 collaboration

Olga Shchagina 1 collaboration

Alina Filatova 1 collaboration

Linda K Rey 1 collaboration

Marion B Lechler 1 collaboration

Jörg Schaper 1 collaboration

Maja Hempel 1 collaboration

Renata Posmyk 1 collaboration

Krzysztof Szczaluba 1 collaboration

Gijs W E Santen 1 collaboration

Dagmar Wieczorek 1 collaboration

Ulrike A Nuber 1 collaboration

Ochir Migiaev 1 collaboration

Nataliya Pechatnikova 1 collaboration

Ekaterina Pomerantseva 1 collaboration

Fedor Konovalov 1 collaboration

Maria Ampleeva 1 collaboration

Vladimir Kaimonov 1 collaboration

Artur Galushkin 1 collaboration

Andrey Nekrasov 1 collaboration

Marina Kurkina 1 collaboration

Grigory Perelman 1 collaboration

Tatiana Proshlyakova 1 collaboration

Daria Korotkova 1 collaboration

Sergey Klyushnikov 1 collaboration

Maria Karpova 1 collaboration

Antonina Kuznetsova 1 collaboration

Leonid Gorobets 1 collaboration

Vladimir Kenis 1 collaboration

Alena Dimitrieva 1 collaboration

Svetlana Papizh 1 collaboration

Victoria Serzhanova 1 collaboration

Lambert van den Heuvel 1 collaboration

Elena Levtchenko 1 collaboration

Larisa Prikhodina 1 collaboration