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Publications from Network Members

Here you will find all the publications from our network members. If you wish to get your Nanopore sequencing work to be featured on this page, please reach out to us.

Niazi A.M.*, Krause M.*, Valen E. (*joint first):
Transcript isoform-specific estimation of poly(A) tail length by Nanopore sequencing of native RNA.

Springer Methods in Molecular Biology. Book Chapter (In press).
[PDF]

Höijer, I., Johansson, J., Gudmundsson, S., Chin, C.-S., Bunikis, I., Häggqvist, S., Emmanouilidou, A., Wilbe, M., Hoed, M. den, Bondeson, M.-L., Feuk, L., Gyllensten, U., Ameur, A.:
Amplification-free long read sequencing reveals unforeseen CRISPR-Cas9 off-target activity.
Biorxiv. 2020.02.09.940486 (2020).
DOI: 10.1101/2020.02.09.940486 [PDF]

Krause, M.*, Niazi, A.M.*, Labun, K., Cleuren, Y.N.T., Müller, F.S., Valen, E. (*joint first):
tailfindr : alignment-free poly(A) length measurement for Oxford Nanopore RNA and DNA sequencing.
RNA. 25, 1229–1241 (2019).
DOI: 10.1261/rna.071332.119 [PDF]
[tailfindr Software] [Reproducible Analyses]

Florian, R.T., Kraft, F., Leitão, E., Kaya, S., Klebe, S., Magnin, E., Rootselaar, A.-F. van, Buratti, J., Kühnel, T., Schröder, C., Giesselmann, S., Tschernoster, N., Altmueller, J., Lamiral, A., Keren, B., Nava, C., Bouteiller, D., Forlani, S., Jornea, L., Kubica, R., Ye, T., Plassard, D., Jost, B., Meyer, V., Deleuze, J.-F., Delpu, Y., Avarello, M.D.M., Vijfhuizen, L.S., Rudolf, G., Hirsch, E., Kroes, T., Reif, P.S., Rosenow, F., Ganos, C., Vidailhet, M., Thivard, L., Mathieu, A., Bourgeron, T., Kurth, I., Rafehi, H., Steenpass, L., Horsthemke, B., Berkovic, S.F., Bisulli, F., Brancati, F., Canafoglia, L., Casari, G., Guerrini, R., Ishiura, H., Licchetta, L., Mei, D., Pippucci, T., Sadleir, L., Scheffer, I.E., Striano, P., Tinuper, P., Tsuji, S., Zara, F., LeGuern, E., Klein, K.M., Labauge, P., Bennett, M.F., Bahlo, M., Gecz, J., Corbett, M.A., Tijssen, M.A.J., Maagdenberg, A.M.J.M. van den, Depienne, C.:
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
Nature Communications 10, 4919 (2019).
DOI: 10.1038/s41467-019-12763-9
 [PDF]

Kraft, F., Kurth, I.:
Long-read sequencing in human genetics.
Medizinische Genetik 31, 198–204 (2019).
DOI: 10.1007/s11825-019-0249-z
 [PDF]

Kraft, F., Wesseler, K., Begemann, M., Kurth, I., Elbracht, M., Eggermann, T.:
Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation.
Clinical Epigenetics. 11, 30 (2019).
DOI: 10.1186/s13148-019-0629-x
 [PDF]

Karsai, G., Kraft, F., Haag, N., Korenke, G.C., Hänisch, B., Othman, A., Suriyanarayanan, S., Steiner, R., Knopp, C., Mull, M., Bergmann, M., Schröder, J.M., Weis, J., Elbracht, M., Begemann, M., Hornemann, T., Kurth, I.:
DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans.
Journal of Clinical Investigation. 129, 1229–1239 (2019).
DOI: 10.1172/jci124159 [PDF]

Krause, M.*, Niazi, A.M.*, Labun, K., Cleuren, Y.N.T., Müller, F.S., Valen, E. (*joint first):
tailfindr : alignment-free poly(A) length measurement for Oxford Nanopore RNA and DNA sequencing.
RNA. 25, 1229–1241 (2019).
DOI: 10.1261/rna.071332.119 [PDF]
[tailfindr Software] [Reproducible Analyses]

Florian, R.T., Kraft, F., Leitão, E., Kaya, S., Klebe, S., Magnin, E., Rootselaar, A.-F. van, Buratti, J., Kühnel, T., Schröder, C., Giesselmann, S., Tschernoster, N., Altmueller, J., Lamiral, A., Keren, B., Nava, C., Bouteiller, D., Forlani, S., Jornea, L., Kubica, R., Ye, T., Plassard, D., Jost, B., Meyer, V., Deleuze, J.-F., Delpu, Y., Avarello, M.D.M., Vijfhuizen, L.S., Rudolf, G., Hirsch, E., Kroes, T., Reif, P.S., Rosenow, F., Ganos, C., Vidailhet, M., Thivard, L., Mathieu, A., Bourgeron, T., Kurth, I., Rafehi, H., Steenpass, L., Horsthemke, B., Berkovic, S.F., Bisulli, F., Brancati, F., Canafoglia, L., Casari, G., Guerrini, R., Ishiura, H., Licchetta, L., Mei, D., Pippucci, T., Sadleir, L., Scheffer, I.E., Striano, P., Tinuper, P., Tsuji, S., Zara, F., LeGuern, E., Klein, K.M., Labauge, P., Bennett, M.F., Bahlo, M., Gecz, J., Corbett, M.A., Tijssen, M.A.J., Maagdenberg, A.M.J.M. van den, Depienne, C.:
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
Nature Communications 10, 4919 (2019).
DOI: 10.1038/s41467-019-12763-9
 [PDF]

Kraft, F., Kurth, I.:
Long-read sequencing in human genetics.
Medizinische Genetik 31, 198–204 (2019).
DOI: 10.1007/s11825-019-0249-z
 [PDF]

Kraft, F., Wesseler, K., Begemann, M., Kurth, I., Elbracht, M., Eggermann, T.:
Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation.
Clinical Epigenetics. 11, 30 (2019).
DOI: 10.1186/s13148-019-0629-x
 [PDF]

Karsai, G., Kraft, F., Haag, N., Korenke, G.C., Hänisch, B., Othman, A., Suriyanarayanan, S., Steiner, R., Knopp, C., Mull, M., Bergmann, M., Schröder, J.M., Weis, J., Elbracht, M., Begemann, M., Hornemann, T., Kurth, I.:
DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans.
Journal of Clinical Investigation. 129, 1229–1239 (2019).
DOI: 10.1172/jci124159 [PDF]

Elbracht, M., Kraft, F., Begemann, M., Holschbach, P., Mull, M., Kabat, I.M., Müller, B., Häusler, M., Kurth, I., Hehr, U.:
Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures.
Molecular Genetics & Genomic Medicine. 6, 1255–1260 (2018).
DOI: 10.1002/mgg3.490 
[PDF]