2025

Deficiency in KPNA4, but not in KPNA3, causes attention deficit/hyperactivity disorder like symptoms in mice.
Rother, F. ORCID: https://orcid.org/0000-0002-4417-2192, Parmar, A.R., Bodenhagen, J.S., Marvaldi, L., Hartmann, E. and Bader, M. ORCID: https://orcid.org/0000-0003-4780-4164
Genes 16 (6): 690. June 2025

2024

A mouse model of X-linked chronic granulomatous disease for the development of CRISPR/Cas9 gene therapy.
Sevim-Wunderlich, S. ORCID: https://orcid.org/0009-0008-2771-4149, Dang, T. ORCID: https://orcid.org/0009-0001-0138-7599, Rossius, J. ORCID: https://orcid.org/0009-0000-6011-9714, Schnütgen, F. ORCID: https://orcid.org/0000-0002-2426-6685 and Kuehn, R. ORCID: https://orcid.org/0000-0003-1694-9803
Genes 15 (6): 706. June 2024

Enhancing variant prioritization in VarFish through on-premise computational facial analysis.
Bhasin, M.A. ORCID: https://orcid.org/0009-0000-2944-6880, Knaus, A. ORCID: https://orcid.org/0000-0003-0366-0533, Incardona, P., Schmid, A., Holtgrewe, M. ORCID: https://orcid.org/0000-0002-3051-1763, Elbracht, M. ORCID: https://orcid.org/0000-0001-5088-1369, Krawitz, P.M. ORCID: https://orcid.org/0000-0002-3194-8625 and Hsieh, T.C. ORCID: https://orcid.org/0000-0003-3037-8728
Genes 15 (3): 370. March 2024

2021

A homozygous AKNA frameshift variant is associated with microcephaly in a Pakistani family.
Waseem, S.S., Moawia, A., Budde, B. ORCID: https://orcid.org/0000-0001-9385-4168, Tariq, M. ORCID: https://orcid.org/0000-0002-5334-403X, Khan, A. ORCID: https://orcid.org/0000-0002-4743-7387, Ali, Z. ORCID: https://orcid.org/0000-0002-2389-3337, Khan, S. ORCID: https://orcid.org/0000-0003-3207-4074, Iqbal, M., Malik, N.A., Haque, S.U., Altmüller, J. ORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Hussain, M.S. ORCID: https://orcid.org/0000-0002-1353-8809, Cirak, S., Baig, S.M. and Nürnberg, P. ORCID: https://orcid.org/0000-0002-7228-428X
Genes 12 (10): 1494. October 2021

Modifier genes in microcephaly: a report on WDR62, CEP63, RAD50 and PCNT variants exacerbating disease caused by biallelic mutations of ASPM and CENPJ.
Makhdoom, E.U.H., Waseem, S.S., Iqbal, M., Abdullah, U. ORCID: https://orcid.org/0000-0002-7168-8266, Hussain, G., Asif, M., Budde, B. ORCID: https://orcid.org/0000-0001-9385-4168, Höhne, W., Tinschert, S., Saadi, S.M. ORCID: https://orcid.org/0000-0001-5962-2101, Yousaf, H., Ali, Z., Fatima, A., Kaygusuz, E. ORCID: https://orcid.org/0000-0001-6984-8526, Khan, A. ORCID: https://orcid.org/0000-0002-4743-7387, Jameel, M., Khan, S. ORCID: https://orcid.org/0000-0003-3207-4074, Tariq, M. ORCID: https://orcid.org/0000-0002-5334-403X, Anjum, I. ORCID: https://orcid.org/0000-0002-9015-3179, Altmüller, J. ORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Höning, S., Baig, S.M., Nürnberg, P. ORCID: https://orcid.org/0000-0002-7228-428X and Hussain, M.S. ORCID: https://orcid.org/0000-0002-1353-8809
Genes 12 (5): 731. May 2021

2020

Genetic spectrum of syndromic and non-syndromic hearing loss in Pakistani families.
Doll, J. ORCID: https://orcid.org/0000-0002-0037-9079, Vona, B. ORCID: https://orcid.org/0000-0002-6719-3447, Schnapp, L., Rüschendorf, F. ORCID: https://orcid.org/0000-0001-5640-810X, Khan, I., Khan, S., Muhammad, N., Alam Khan, S. ORCID: https://orcid.org/0000-0001-5436-8917, Nawaz, H., Khan, A., Ahmad, N., Kolb, S.M., Kühlewein, L. ORCID: https://orcid.org/0000-0003-1906-8681, Labonne, J.D.J., Layman, L.C., Hofrichter, M.A.H., Röder, T., Dittrich, M., Müller, T., Graves, T.D., Kong, I.K. ORCID: https://orcid.org/0000-0001-5567-1088, Nanda, I., Kim, H.G. and Haaf, T. ORCID: https://orcid.org/0000-0002-0737-0763
Genes 11 (11): 1329. 11 November 2020

2019

A (3D-nuclear) space odyssey: making sense of Hi-C maps.
Mota-Gómez, I. ORCID: https://orcid.org/0000-0001-8308-8017 and Lupiáñez, D.G. ORCID: https://orcid.org/0000-0002-3165-036X
Genes 10 (6): 415. 29 May 2019

2017

Viral infection identifies micropeptides differentially regulated in smORF-containing lncRNAs.
Razooky, B.S. ORCID: https://orcid.org/0000-0002-5263-1512, Obermayer, B. ORCID: https://orcid.org/0000-0002-9116-630X, O'May, J.B. and Tarakhovsky, A.
Genes 8 (8): 206. 21 August 2017

2011

Effect of culture conditions on viability of mouse and rat embryos developed in vitro.
Popova, E. ORCID: https://orcid.org/0000-0002-3043-9650, Bader, M. ORCID: https://orcid.org/0000-0003-4780-4164 and Krivokharchenko, A.
Genes 2 (2): 332-344. 1 April 2011