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941110

⇧ RWTH Aachen ⇧

Recent Publications

All known publications ...
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http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article (Abstract) Rodriguez-Aliaga, P. ; Kraft, F.RWTH* ; Yuan, W. ; Pak, S. ; Frydman, J. ; Elbracht, M.RWTH* ; Kurth, I.RWTH*
BPS2025 - Brain malformations and seizures by impaired function of TRiC chaperonin folding machinery
Biophysical journal : BJ 124(3, Supplement 1) 174a (2025) [10.1016/j.bpj.2024.11.947]2025   BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article Menzel, M. (Corresponding author) ; Martis-Thiele, M. ; Goldschmid, H. ; et al
Benchmarking whole exome sequencing in the German network for personalized medicine
European journal of cancer 211, 114306 (2024) [10.1016/j.ejca.2024.114306]2024     Files BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Abstract/Journal Article/Contribution to a conference proceedings Lesmann, H. ; Moosa, S. ; Pantel, J. T. ; Hustinx, A. ; Kamphans, T. ; Meiswinkel, W. ; Li, J.-M. ; Klinkhammer, H. ; Javanmardi, B. ; Knaus, A. ; Rosnev, S. ; ten Hagen, M. ; Caro, P. ; Abdelrazek, I. ; Velmans, C. ; Ebstein, F. ; Kury, S. ; Abdalla, E. ; Höller, M. ; Coetzer, K. C. ; Elbracht, M.RWTH* ; Marbach, F. ; Knopp, C.RWTH* ; Graziano, C. ; Arlt, A. ; Borovikov, A. ; Netzer, C. ; Uwineza, A. ; Abou Jamra, R. ; Noethen, M. ; Lyon, G. ; Krawitz, P. ; Hsieh, T.-C.
GestaltMatcher Database - a FAIR database for medical imaging data of rare disorders
202456. European Society of Human Genetics (ESHG) Conference, GlasgowGlasgow, UK, 10 Jun 2023 - 13 Jun 20232023-06-102023-06-13 European journal of human genetics 32(Supplement 1), P18.040.D (2024) special issue: "Abstracts from the 56th European Society of Human Genetics (ESHG) Conference"2024     Homepage of journal BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Abstract/Journal Article/Contribution to a conference proceedings Kraft, F.RWTH* ; Begemann, M.RWTH* ; Lausberg, E.RWTH* ; Lischka, A.RWTH* ; Holschbach, P. B.RWTH* ; Pappa, A.RWTH* ; Franken, L.RWTH* ; Elbracht, M.RWTH* ; Eggermann, K.RWTH* ; Häusler, M. G.RWTH* ; Kurth, I.RWTH* ; Knopp, C.RWTH*
Further evidence that biallelic nonsense variants in ATL1 cause complicated hereditary spastic paraplegia
202456. European Society of Human Genetics (ESHG) Conference, GlasgowGlasgow, UK, 10 Jun 2023 - 13 Jun 20232023-06-102023-06-13 European journal of human genetics 32(Supplement 1), EP10.049 (2024) special issue: "Abstracts from the 56th European Society of Human Genetics (ESHG) Conference"2024     Homepage of journal BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Abstract/Journal Article/Contribution to a conference proceedings Eggermann, K.RWTH* ; Lischka, A.RWTH* ; Elbracht, M.RWTH* ; Kraft, F.RWTH* ; Begemann, M.RWTH* ; Dey, D.RWTH* ; Record, C. ; Reilly, M. M. ; Lassuthova, P. ; Cakar, A. ; Parman, Y. ; Baets, J. ; Timmermann, V. ; Senderek, J. ; Lampert, A.RWTH* ; Bennet, D. ; Cox, J. ; Dohrn, M. F.RWTH* ; Züchner, S. ; Hornemann, T. ; Auer-Grumbach, M. ; Hübner, C. ; Woods, G. ; Leipold, E. ; de Winter, J. ; Beijer, D. ; Nalini, A. ; Marques Junior, W. ; Kurth, I.RWTH*
Towards a better understanding of genotypephenotype spectra in hereditary pain loss disorders
202456. European Society of Human Genetics (ESHG) Conference, GlasgowGlasgow, UK, 10 Jun 2023 - 13 Jun 20232023-06-102023-06-13 European journal of human genetics 32(Supplement 1), EP03.007 (2024) special issue: "Abstracts from the 56th European Society of Human Genetics (ESHG) Conference"2024     Homepage of journal BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Abstract/Journal Article Paul, M. S. ; Michener, S. L. ; Pan, H. ; et al
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
The American journal of human genetics 111(4), 805-805 (2024) [10.1016/j.ajhg.2024.03.009]2024   BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Abstract/Journal Article Paul, M. S. ; Michener, S. L. ; Pan, H. ; et al
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
The American journal of human genetics 111(6), 1239-1239 (2024) [10.1016/j.ajhg.2024.04.022]2024   BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article Elbracht, M.RWTH* ; Auber, B. ; Kurth, I.RWTH* ; Stenzinger, A. ; Schaaf, C. P. ; Schroeder, C. (Corresponding author)RWTH* ; die DNPM AG Diagnostik (Collaboration author)
Humangenetische Diagnostik bei onkologischen Erkrankungen : Bedeutung von Tumorrisikosyndromen für Therapie und Prävention
Die Onkologie : Organ der Deutschen Krebsgesellschaft e.V. 30(10), 922-931 (2024) [10.1007/s00761-024-01562-7]2024     Files BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article Kraft, F.RWTH* ; Rodriguez-Aliaga, P. ; Yuan, W. ; et al
Brain malformations and seizures by impaired chaperonin function of TRiC
Science 386(6721), 516-525 (2024) [10.1126/science.adp8721]2024   BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article Schmidt, A. ; Danyel, M. ; Grundmann, K. ; et al
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
Nature genetics 56(8), 1644-1653 (2024) [10.1038/s41588-024-01836-1]2024     Files BibTeX | EndNote: XML, Text | RIS

All known publications ...
Download: BibTeX | EndNote XML,  Text | RIS |