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26 results for Perez,+Yonatan

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ArticlesPeer ReviewedFull Text
Single-cell genomics identifies cell type–specific molecular changes in autism
Author / Creator:Velmeshev, Dmitry ; Schirmer, Lucas ; Jung, Diane ; Haeussler, Maximilian ; Perez, Yonatan ; Mayer, Simone ; Bhaduri, Aparna ; Goyal, Nitasha ; Rowitch, David H. ; Kriegstein, Arnold R.
Publisher:United States: American Association for the Advancement of Science
Journal title:Science (American Association for the Advancement of Science), 2019-05, Vol.364 (6441), p.685-689
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Factors for success of awake prone positioning in patients with COVID-19-induced acute hypoxemic respiratory failure: analysis of a randomized controlled trial
Author / Creator:Ibarra-Estrada, Miguel ; Li, Jie ; Pavlov, Ivan ; Perez, Yonatan ; Roca, Oriol ; Tavernier, Elsa ; McNicholas, Bairbre ; Vines, David ; Marín-Rosales, Miguel ; Vargas-Obieta, Alexandra ; García-Salcido, Roxana ; Aguirre-Díaz, Sara A. ; López-Pulgarín, José A. ; Chávez-Peña, Quetzalcóatl ; Mijangos-Méndez, Julio C. ; Aguirre-Avalos, Guadalupe ; Ehrmann, Stephan ; Laffey, John G.
Publisher:England: BioMed Central Ltd
Journal title:Critical care (London, England), 2022-03, Vol.26 (1), p.84-13, Article 84
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Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase
Author / Creator:Drabkin, Max ; Yogev, Yuval ; Zeller, Lior ; Zarivach, Raz ; Zalk, Ran ; Halperin, Daniel ; Wormser, Ohad ; Gurevich, Evgenia ; Landau, Daniel ; Kadir, Rotem ; Perez, Yonatan ; Birk, Ohad S.
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2019-12, Vol.129 (12), p.5163-5168
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ArticlesPeer ReviewedFull Text
ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size
Author / Creator:Kadir, Rotem ; Harel, Tamar ; Markus, Barak ; Perez, Yonatan ; Bakhrat, Anna ; Cohen, Idan ; Volodarsky, Michael ; Feintsein-Linial, Miora ; Chervinski, Elana ; Zlotogora, Joel ; Sivan, Sara ; Birnbaum, Ramon Y. ; Abdu, Uri ; Shalev, Stavit ; Birk, Ohad S.
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2016-03, Vol.12 (3), p.e1005919
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Awake prone positioning of hypoxaemic patients with COVID-19: protocol for a randomised controlled open-label superiority meta-trial
Author / Creator:Tavernier, Elsa ; McNicholas, Bairbre ; Pavlov, Ivan ; Roca, Oriol ; Perez, Yonatan ; Laffey, John ; Mirza, Sara ; Cosgrave, David ; Vines, David ; Frat, Jean-Pierre ; Ehrmann, Stephan ; Li, Jie
Publisher:England: British Medical Journal Publishing Group
Journal title:BMJ open, 2020-11, Vol.10 (11), p.e041520
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A cross-species proteomic map reveals neoteny of human synapse development
Author / Creator:Wang, Li ; Pang, Kaifang ; Zhou, Li ; Cebrián-Silla, Arantxa ; González-Granero, Susana ; Wang, Shaohui ; Bi, Qiuli ; White, Matthew L. ; Ho, Brandon ; Li, Jiani ; Li, Tao ; Perez, Yonatan ; Huang, Eric J. ; Winkler, Ethan A. ; Paredes, Mercedes F. ; Kovner, Rothem ; Sestan, Nenad ; Pollen, Alex A. ; Liu, Pengyuan ; Li, Jingjing ; Piao, Xianhua ; García-Verdugo, José Manuel ; Alvarez-Buylla, Arturo ; Liu, Zhandong ; Kriegstein, Arnold R.
Journal title:Nature (London), 2023-10, Vol.622 (7981), p.112-119
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IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma
Author / Creator:Wormser, Ohad ; Perez, Yonatan ; Dolgin, Vadim ; Kamali, Bahman ; Tangeman, Jared A ; Gradstein, Libe ; Yogev, Yuval ; Hadar, Noam ; Freund, Ofek ; Drabkin, Max ; Halperin, Daniel ; Irron, Inbar ; Grajales-Esquivel, Erika ; Del Rio-Tsonis, Katia ; Birnbaum, Ramon Y ; Akler, Gidon ; Birk, Ohad S
Publisher:London: Nature Publishing Group
Journal title:Npj genomic medicine, 2023-08, Vol.8 (1), p.22
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Autosomal recessive Adams–Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase
Author / Creator:Cohen, Idan ; Silberstein, Eldad ; Perez, Yonatan ; Landau, Daniella ; Elbedour, Khalil ; Langer, Yshaia ; Kadir, Rotem ; Volodarsky, Michael ; Sivan, Sara ; Narkis, Ginat ; Birk, Ohad S
Journal title:European journal of human genetics : EJHG, 2013-07, Vol.22 (3), p.374-378
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A cross-species proteomic map reveals neoteny of human synapse development
Author / Creator:Wang, Li ; Pang, Kaifang ; Zhou, Li ; Cebrián-Silla, Arantxa ; González-Granero, Susana ; Wang, Shaohui ; Bi, Qiuli ; White, Matthew L. ; Ho, Brandon ; Li, Jiani ; Li, Tao ; Perez, Yonatan ; Huang, Eric J. ; Winkler, Ethan A. ; Paredes, Mercedes F. ; Kovner, Rothem ; Sestan, Nenad ; Pollen, Alex A. ; Liu, Pengyuan ; Li, Jingjing ; Piao, Xianhua ; García-Verdugo, José Manuel ; Alvarez-Buylla, Arturo ; Liu, Zhandong ; Kriegstein, Arnold R.
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 2023-10, Vol.622 (7981), p.112-119
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ZNF142 mutation causes sex-dependent neurologic disorder
Author / Creator:Proskorovski-Ohayon, Regina ; Eskin-Schwartz, Marina ; Shorer, Zamir ; Kadir, Rotem ; Halperin, Daniel ; Drabkin, Max ; Yogev, Yuval ; Aharoni, Sarit ; Hadar, Noam ; Cohen, Hagit ; Eremenko, Ekaterina ; Perez, Yonatan ; Birk, Ohad S
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2024-06, Vol.61 (6), p.566-577
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Single-cell analysis of dup15q syndrome reveals developmental and postnatal molecular changes in autism
Author / Creator:Perez, Yonatan ; Velmeshev, Dmitry ; Wang, Li ; White, Matthew L. ; Siebert, Clara ; Baltazar, Jennifer ; Zuo, Guolong ; Moriano, Juan Andrés ; Chen, Songcang ; Steffen, David M. ; Dutton, Natalia Garcia ; Wang, Shaohui ; Wick, Brittney ; Haeussler, Maximilian ; Chamberlain, Stormy ; Alvarez-Buylla, Arturo ; Kriegstein, Arnold
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2025-07, Vol.16 (1), p.6177, Article 6177
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UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN
Author / Creator:Perez, Yonatan ; Kadir, Rotem ; Volodarsky, Michael ; Noyman, Iris ; Flusser, Hagit ; Shorer, Zamir ; Gradstein, Libe ; Birnbaum, Ramon Y ; Birk, Ohad S
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2016-06, Vol.53 (6), p.397-402
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SEC31A mutation affects ER homeostasis, causing a neurological syndrome
Author / Creator:Halperin, Daniel ; Kadir, Rotem ; Perez, Yonatan ; Drabkin, Max ; Yogev, Yuval ; Wormser, Ohad ; Berman, Erez M ; Eremenko, Ekaterina ; Rotblat, Barak ; Shorer, Zamir ; Gradstein, Libe ; Shelef, Ilan ; Birk, Ruth ; Abdu, Uri ; Flusser, Hagit ; Birk, Ohad S
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2019-03, Vol.56 (3), p.139-148
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Meta-trial of awake prone positioning with nasal high flow therapy: Invitation to join a pandemic collaborative research effort
Author / Creator:Li, Jie ; Pavlov, Ivan ; Laffey, John G. ; Roca, Oriol ; Mirza, Sara ; Perez, Yonatan ; McNicholas, Bairbre ; Cosgrave, David ; Vines, David ; Tavernier, Elsa ; Ehrmann, Stephan
Publisher:United States: Elsevier Inc
Journal title:Journal of critical care, 2020-12, Vol.60, p.140-142
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SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome
Author / Creator:Wormser Ohad ; Gradstein Libe ; Yogev Yuval ; Perez, Yonatan ; Kadir Rotem ; Goliand Inna ; Sadka Yair ; Saad, El Riati ; Flusser Hagit ; Nachmias Dikla ; Birk, Ruth ; Iraqi Muhamad ; Kadar Einat ; Gat Roni ; Drabkin, Max ; Halperin, Daniel ; Horev Amir ; Sivan, Sara ; Abdu Uri ; Elia, Natalie ; Birk, Ohad S
Publisher:Leiden: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2019-06, Vol.27 (6), p.928-940
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Awake prone positioning in acute hypoxaemic respiratory failure: An international expert guidance
Author / Creator:Pavlov, Ivan ; Li, Jie ; Kharat, Aileen ; Luo, Jian ; Ibarra-Estrada, Miguel ; Perez, Yonatan ; McNicolas, Bairbre ; Poole, Daniele ; Roca, Oriol ; Vines, David ; Tavernier, Elsa ; Allen, Thérèse ; Shyamsundar, Murali ; Ehrmann, Stephan ; Simpson, Steven Q. ; Guérin, Claude ; Laffey, John G.
Publisher:Philadelphia: Elsevier Inc
Journal title:Journal of critical care, 2023-12, Vol.78, p.154401, Article 154401
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Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation
Author / Creator:Perez, Yonatan ; Gradstein, Libe ; Flusser, Hagit ; Markus, Barak ; Cohen, Idan ; Langer, Yshaia ; Marcus, Mira ; Lifshitz, Tova ; Kadir, Rotem ; Birk, Ohad S
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2014-05, Vol.22 (5), p.703-706
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ArticlesPeer ReviewedFull Text
Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase
Author / Creator:Cohen, Idan ; Silberstein, Eldad ; Perez, Yonatan ; Landau, Daniella ; Elbedour, Khalil ; Langer, Yshaia ; Kadir, Rotem ; Volodarsky, Michael ; Sivan, Sara ; Narkis, Ginat ; Birk, Ohad S
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2014-03, Vol.22 (3), p.374-378
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A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers
Author / Creator:Narkis, Ginat ; Birk, Ruth ; Sadaka, Yair ; Wormser, Ohad ; Perez, Yonatan ; Birk, Ohad S.
Publisher:Cairo, Egypt: Hindawi Publishing Corporation
Journal title:BioMed research international, 2017-01, Vol.2017 (2017), p.1-7
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Showing 1 to 20 of 26 results

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Single-cell genomics identifies cell type–specific molecular changes in autism

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Factors for success of awake prone positioning in patients with COVID-19-induced acute hypoxemic respiratory failure: analysis of a randomized controlled trial

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Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase

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ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size

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Awake prone positioning of hypoxaemic patients with COVID-19: protocol for a randomised controlled open-label superiority meta-trial

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A cross-species proteomic map reveals neoteny of human synapse development

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IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma

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Autosomal recessive Adams–Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase

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A cross-species proteomic map reveals neoteny of human synapse development

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ZNF142 mutation causes sex-dependent neurologic disorder

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Single-cell analysis of dup15q syndrome reveals developmental and postnatal molecular changes in autism

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UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN

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SEC31A mutation affects ER homeostasis, causing a neurological syndrome

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Meta-trial of awake prone positioning with nasal high flow therapy: Invitation to join a pandemic collaborative research effort

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SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome

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Awake prone positioning in acute hypoxaemic respiratory failure: An international expert guidance

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Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation

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Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase

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A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers

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