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Genetic diagnosis of Mendelian disorders via RNA sequencing
Genetic diagnosis of Mendelian disorders via RNA sequencing
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Genetic diagnosis of Mendelian disorders via RNA sequencing

Kremer, Laura S ; Bader, Daniel M ; Mertes, Christian ; Kopajtich, Robert ; Pichler, Garwin ; Iuso, Arcangela ; Haack, Tobias B ; Graf, Elisabeth ; Schwarzmayr, Thomas ; Terrile, Caterina ; Koňaříková, Eliška ; Repp, Birgit ; Kastenmüller, Gabi ; Adamski, Jerzy ; Lichtner, Peter ; Leonhardt, Christoph ; Funalot, Benoit ; Donati, Alice ; Tiranti, Valeria ; Lombes, Anne ; Jardel, Claude ; Gläser, Dieter ; Taylor, Robert W ; Ghezzi, Daniele ; Mayr, Johannes A ; Rötig, Agnes ; Freisinger, Peter ; Distelmaier, Felix ; Strom, Tim M ; Meitinger, Thomas ; Gagneur, Julien ; Prokisch, Holger

Nature communications, 2017-06, Vol.8 (1), p.15824-11, Article 15824 [Periódico revisado por pares]

England: Nature Publishing Group

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2
OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using Seahorse XF Analyzer
OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using Seahorse XF Analyzer
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OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using Seahorse XF Analyzer

Yépez, Vicente A ; Kremer, Laura S ; Iuso, Arcangela ; Gusic, Mirjana ; Kopajtich, Robert ; Koňaříková, Eliška ; Nadel, Agnieszka ; Wachutka, Leonhard ; Prokisch, Holger ; Gagneur, Julien Zhang, Jianhua

PloS one, 2018-07, Vol.13 (7), p.e0199938-e0199938 [Periódico revisado por pares]

United States: Public Library of Science

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3
Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach
Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach
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Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach

Pascual-Alonso, Ainhoa ; Xiol, Clara ; Smirnov, Dmitrii ; Kopajtich, Robert ; Prokisch, Holger ; Armstrong, Judith

Human genomics, 2023-09, Vol.17 (1), p.1-85, Article 85 [Periódico revisado por pares]

London: BioMed Central

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4
Expanded phenotypic spectrum of the m.8344A>G “MERRF” mutation: data from the German mitoNET registry
Expanded phenotypic spectrum of the m.8344A>G “MERRF” mutation: data from the German mitoNET registry
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Expanded phenotypic spectrum of the m.8344A>G “MERRF” mutation: data from the German mitoNET registry

Altmann, Judith ; Büchner, Boriana ; Nadaj-Pakleza, Aleksandra ; Schäfer, Jochen ; Jackson, Sandra ; Lehmann, Diana ; Deschauer, Marcus ; Kopajtich, Robert ; Lautenschläger, Ronald ; Kuhn, Klaus A. ; Karle, Kathrin ; Schöls, Ludger ; Schulz, Jörg B. ; Weis, Joachim ; Prokisch, Holger ; Kornblum, Cornelia ; Claeys, Kristl G. ; Klopstock, Thomas

Journal of neurology, 2016-05, Vol.263 (5), p.961-972 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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5
Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration
Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration
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Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration

Synofzik, Matthis ; Haack, Tobias B. ; Kopajtich, Robert ; Gorza, Matteo ; Rapaport, Doron ; Greiner, Markus ; Schönfeld, Caroline ; Freiberg, Clemens ; Schorr, Stefan ; Holl, Reinhard W. ; Gonzalez, Michael A. ; Fritsche, Andreas ; Fallier-Becker, Petra ; Zimmermann, Richard ; Strom, Tim M. ; Meitinger, Thomas ; Züchner, Stephan ; Schüle, Rebecca ; Schöls, Ludger ; Prokisch, Holger

American journal of human genetics, 2014-12, Vol.95 (6), p.689-697 [Periódico revisado por pares]

United States: Elsevier Inc

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6
A GTPase-activating protein controls Rab5 function in endocytic trafficking
A GTPase-activating protein controls Rab5 function in endocytic trafficking
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A GTPase-activating protein controls Rab5 function in endocytic trafficking

Barr, Francis A ; Haas, Alexander K ; Fuchs, Evelyn ; Kopajtich, Robert

Nature cell biology, 2005-09, Vol.7 (9), p.887-893 [Periódico revisado por pares]

England: Nature Publishing Group

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7
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance
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Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance

Stenton, Sarah L. ; Piekutowska‐Abramczuk, Dorota ; Kulterer, Lea ; Kopajtich, Robert ; Claeys, Kristl G. ; Ciara, Elżbieta ; Eisen, Johannes ; Płoski, Rafał ; Pronicka, Ewa ; Malczyk, Katarzyna ; Wagner, Matias ; Wortmann, Saskia B. ; Prokisch, Holger

Human mutation, 2021-03, Vol.42 (3), p.310-319 [Periódico revisado por pares]

United States: Hindawi Limited

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8
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy
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De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy

Riedhammer, Korbinian M ; Stockler, Sylvia ; Ploski, Rafal ; Wenzel, Maren ; Adis-Dutschmann, Burkhard ; Ahting, Uwe ; Alhaddad, Bader ; Blaschek, Astrid ; Haack, Tobias B ; Kopajtich, Robert ; Lee, Jessica ; Murcia Pienkowski, Victor ; Pollak, Agnieszka ; Szymanska, Krystyna ; Tarailo-Graovac, Maja ; van der Lee, Robin ; van Karnebeek, Clara D ; Meitinger, Thomas ; Krägeloh-Mann, Ingeborg ; Vill, Katharina

Brain (London, England : 1878), 2021-03, Vol.144 (2), p.411-419 [Periódico revisado por pares]

England: Oxford University Press

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9
Choice of Plk1 docking partners during mitosis and cytokinesis is controlled by the activation state of Cdk1
Choice of Plk1 docking partners during mitosis and cytokinesis is controlled by the activation state of Cdk1
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Choice of Plk1 docking partners during mitosis and cytokinesis is controlled by the activation state of Cdk1

Li, Xiuling ; Neef, Rüdiger ; Nigg, Erich A ; Sillje, Herman ; Gruneberg, Ulrike ; Kopajtich, Robert ; Barr, Francis A

Nature cell biology, 2007-04, Vol.9 (4), p.436-444 [Periódico revisado por pares]

England: Nature Publishing Group

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10
Identification of a Novel Variant in MT-CO3 Causing MELAS
Identification of a Novel Variant in MT-CO3 Causing MELAS
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Identification of a Novel Variant in MT-CO3 Causing MELAS

Xu, Manting ; Kopajtich, Robert ; Elstner, Matthias ; Wang, Zhaoxia ; Liu, Zhimei ; Wang, Junling ; Prokisch, Holger ; Fang, Fang

Frontiers in genetics, 2021-05, Vol.12, p.638749-638749 [Periódico revisado por pares]

Frontiers Media S.A

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