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941120 ; 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 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 Rigter, P. M. F. ; de Konink, C. ; Dunn, M. J. ; Proietti Onori, M. ; Humberson, J. B. ; Thomas, M. ; Barnes, C. ; Prada, C. E. ; Weaver, K. N. ; Ryan, T. D. ; Caluseriu, O. ; Conway, J. ; Calamaro, E. ; Fong, C.-T. ; Wuyts, W. ; Meuwissen, M. ; Hordijk, E. ; Jonkers, C. N. ; Anderson, L. ; Yuseinova, B. ; Polonia, S. ; Beysen, D. ; Stark, Z. ; Savva, E. ; Poulton, C. ; McKenzie, F. ; Bhoj, E. ; Bupp, C. P. ; Bézieau, S. ; Mercier, S. ; Blevins, A. ; Wentzensen, I. M. ; Xia, F. ; Rosenfeld, J. A. ; Hsieh, T.-C. ; Krawitz, P. M. ; Elbracht, M.RWTH* ; Veenma, D. C. M. ; Schulman, H. ; Stratton, M. M. ; Küry, S. (Corresponding author) ; van Woerden, G. M. (Corresponding author)
Role of CAMK2D in neurodevelopment and associated conditions
The American journal of human genetics 111(2), 364-382 (2024) [10.1016/j.ajhg.2023.12.016]2024   BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article/Contribution to a book Bhasin, M. A. ; Knaus, A. ; Incardona, P. ; Schmid, A. ; Holtgrewe, M. ; Elbracht, M.RWTH* ; Krawitz, P. M. ; Hsieh, T.-C. (Corresponding author)
Enhancing Variant Prioritization in VarFish through On-Premise Computational Facial Analysis
Genes (Basel) 15(3), 370 (2024) [10.3390/genes15030370] special issue: "Molecular and Genetic Diagnosis of Rare Diseases / Special Issue Editors: Dr. Martina Witsch-Baumgartner, Guest Editor; Dr. Beatrix Mühlegger, Guest Editor"2024     Files BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png 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(1), 96-118 (2024) [10.1016/j.ajhg.2023.12.004]2024   BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article/Contribution to a book Brunet, T. (Corresponding author) ; Zott, B. ; Lieftüchter, V. ; Lenz, D. ; Schmidt, A. ; Peters, P. ; Kopajtich, R. ; Zaddach, M. ; Zimmermann, H. ; Hüning, I. ; Ballhausen, D. ; Staufner, C. ; Bianzano, A. ; Hughes, J. ; Taylor, R. W. ; McFarland, R. ; Devlin, A. ; Mihaljević, M. ; Barišić, N. ; Rohlfs, M. ; Wilfling, S. ; Sondheimer, N. ; Hewson, S. ; Marinakis, N. M. ; Kosma, K. ; Traeger-Synodinos, J. ; Elbracht, M.RWTH* ; Begemann, M.RWTH* ; Trepels-Kottek, S. ; Hasan, D. ; Scala, M. ; Capra, V. ; Zara, F. ; van der Ven, A. T. ; Driemeyer, J. ; Apitz, C. ; Krämer, J. ; Strong, A. ; Hakonarson, H. ; Watson, D. ; Mayr, J. A. ; Prokisch, H. ; Meitinger, T. ; Borggraefe, I. ; Spiegler, J. ; Baric, I. ; Paolini, M. ; Gerstl, L. ; Wagner, M.
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke
Genetics in medicine 26(2), 101013 (2024) [10.1016/j.gim.2023.101013] special issue: "Neurology"2024   BibTeX | EndNote: XML, Text | RIS

All known publications ...
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