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Irina Lagovsky
Researcher at Rabin Medical Center
Publications - 19
Citations - 501
Irina Lagovsky is an academic researcher from Rabin Medical Center. The author has contributed to research in topics: Exome sequencing & Medicine. The author has an hindex of 9, co-authored 15 publications receiving 381 citations. Previous affiliations of Irina Lagovsky include Tel Aviv University.
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Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency.
Liat de Vries,Liat de Vries,Doron M. Behar,Doron M. Behar,Pola Smirin-Yosef,Irina Lagovsky,Shay Tzur,Lina Basel-Vanagaite,Lina Basel-Vanagaite +8 more
TL;DR: It is suggested that the nonsense mutation identified accounts for the POI phenotype, highlighting the importance of the synaptonemal complex and meiosis in ovarian function.
Journal ArticleDOI
ZNF341 controls STAT3 expression and thereby immunocompetence
Stefanie Frey-Jakobs,Julia M. Hartberger,Manfred Fliegauf,Claudia Bossen,Magdalena L. Wehmeyer,Johanna Charlotte Neubauer,Alla Bulashevska,Michele Proietti,Philipp Fröbel,Christina Nöltner,Linlin Yang,Jessica Rojas-Restrepo,Niko Langer,Sandra Winzer,Karin R. Engelhardt,Cristina Glocker,Dietmar Pfeifer,Adi Klein,Alejandro A. Schäffer,Irina Lagovsky,Irina Lagovsky,Idit Lachover-Roth,Vivien Béziat,Vivien Béziat,Anne Puel,Anne Puel,Anne Puel,Jean-Laurent Casanova,Bernhard Fleckenstein,Stephan Weidinger,Sara Sebnem Kilic,Ben-Zion Garty,Amos Etzioni,Bodo Grimbacher,Bodo Grimbacher +34 more
TL;DR: Nonsense mutations in ZNF341 account for the STAT3-like phenotype in four autosomal-recessive kindreds and reveal a previously unappreciated layer of transcriptional regulation controlling JAK-STAT signaling, a previously unrecognized regulator of immune homeostasis.
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Biallelic SZT2 Mutations Cause Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum
Lina Basel-Vanagaite,Tova Hershkovitz,Eli Heyman,Miquel Raspall-Chaure,Naseebullah Kakar,Pola Smirin-Yosef,Marta Vila-Pueyo,Liora Kornreich,Holger Thiele,Harald Bode,Irina Lagovsky,Dvir Dahary,Ami Haviv,Monika Weisz Hubshman,Metsada Pasmanik-Chor,Peter Nürnberg,Doron Gothelf,Doron Gothelf,Christian Kubisch,Mordechai Shohat,Alfons Macaya,Guntram Borck +21 more
TL;DR: It is concluded that mutations in SZT2 cause a severe type of autosomal-recessive infantile encephalopathy with intractable seizures and distinct neuroradiological anomalies.
Journal ArticleDOI
Anaphylaxis in Israel: experience with 92 hospitalized children.
V. Hoffer,Oded Scheuerman,Nufar Marcus,Yael Levy,N. Segal,Irina Lagovsky,Y. Monselise,Ben-Zion Garty +7 more
TL;DR: Anaphylaxis in Israel: Experience with 92 hospitalized children 2011; 22:172–177.
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A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis.
Pola Smirin-Yosef,Pola Smirin-Yosef,Nehama Zuckerman-Levin,Nehama Zuckerman-Levin,Shay Tzur,Yaron Granot,Lior Cohen,Lior Cohen,Juliane Sachsenweger,Guntram Borck,Irina Lagovsky,Irina Lagovsky,Mali Salmon-Divon,Lisa Wiesmüller,Lina Basel-Vanagaite +14 more
TL;DR: A stop-gain homozygous mutation in the SPIDR gene revealed that a biallelic mutation in this gene may be associated with ovarian dysgenesis in cases of autosomal recessive inheritance and is important for ovarian function in humans.