Universität zu Köln

Journal Article

Asif, Maria, Kaygusuz, Emrah, Shinawi, Marwan, Nickelsen, Anna, Hsieh, Tzung-Chien, Wagle, Prerana, Budde, Birgit S., Hochscherf, Jennifer ORCID: 0000-0002-4412-7391, Abdullah, Uzma, Honing, Stefan, Nienberg, Christian, Lindenblatt, Dirk, Noegel, Angelika A., Altmuller, Janine ORCID: 0000-0003-4372-1521, Thiele, Holger, Motameny, Susanne, Fleischer, Nicole, Segal, Idan, Pais, Lynn, Tinschert, Sigrid, Samra, Nadra Nasser, Savatt, Juliann M., Rudy, Natasha L., De Luca, Chiara, Fortugno, Paola, White, Susan M., Krawitz, Peter, Hurst, Anna C. E., Niefind, Karsten ORCID: 0000-0002-0183-6315, Jose, Joachim ORCID: 0000-0002-0666-2676, Brancati, Francesco, Nurnberg, Peter and Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809 (2022). De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway. Hum. Genet. Genom. Adv., 3 (3). AMSTERDAM: ELSEVIER. ISSN 2666-2477

Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809, Battaglia, Agatino ORCID: 0000-0002-7128-7606, Szczepanski, Sandra, Kaygusuz, Emrah, Toliat, Mohammad Reza, Sakakibara, Shin-ichi ORCID: 0000-0001-8983-2249, Altmueller, Janine, Thiele, Holger, Nuernberg, Gudrun, Moosa, Shahida ORCID: 0000-0002-4463-3067, Yigit, Goekhan, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Tinschert, Sigrid, Clayton-Smith, Jill, Vasudevan, Pradeep, Urquhart, Jill E., Donnai, Dian, Fryer, Alan, Percin, Ferda ORCID: 0000-0001-9317-8155, Brancati, Francesco, Dobbie, Angus, Smigiel, Robert, Gillessen-Kaesbach, Gabriele, Wollnik, Bernd, Noegel, Angelika Anna, Newman, William G. and Nuernberg, Peter (2014). Mutations in CKAP2L, the Human Homo log of the Mouse Radmis Gene, Cause Filippi Syndrome. Am. J. Hum. Genet., 95 (5). S. 622 - 633. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Kaygusuz, Emrah, Khayyat, Arwa Ishaq A., Abdullah, Uzma, Budde, Birgit Susanne, Asif, Maria, Ahmed, Ilyas, Makhdoom, Ehtisham Ul Haq, Sur-Erdem, Ilknur, Baig, Jamshaid Mahmood, Khan, Muhammad Mohsin Ali, Toliat, Mohammad Reza, Becker, Christian, Anwar, Haseeb, Iqbal, Maria, Fischer, Sarah, Jameel, Muhammad, Sher, Muhammad, Tariq, Muhammad, Malik, Naveed Altaf, Noegel, Angelika A., Hassan, Muhammad Jawad, Thiele, Holger, Tinschert, Sigrid, Eichinger, Ludwig, Honing, Stefan, Baig, Shahid Mahmood, Nurnberg, Peter and Hussain, Muhammad Sajid (2022). A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome (vol 100, pg 486, 2021). Clin. Genet., 101 (2). S. 272 - 273. HOBOKEN: WILEY. ISSN 1399-0004

Kaygusuz, Emrah, Khayyat, Arwa Ishaq A., Abdullah, Uzma, Budde, Birgit Susanne, Asif, Maria, Ahmed, Ilyas, Makhdoom, Ehtisham Ul Haq, Sur-Erdem, Ilknur, Baig, Jamshaid Mahmood, Khan, Muhammad Mohsin Ali, Toliat, Mohammad Reza, Becker, Christian, Anwar, Haseeb, Iqbal, Maria, Fischer, Sarah, Jameel, Muhammad, Sher, Muhammad, Tariq, Muhammad ORCID: 0000-0002-5334-403X, Malik, Naveed Altaf ORCID: 0000-0002-7392-9449, Noegel, Angelika A., Hassan, Muhammad Jawad, Thiele, Holger, Tinschert, Sigrid, Eichinger, Ludwig, Hoening, Stefan, Baig, Shahid Mahmood, Nuernberg, Peter and Hussain, Muhammad Sajid (2021). A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome. Clin. Genet., 100 (4). S. 486 - 489. HOBOKEN: WILEY. ISSN 1399-0004

Makhdoom, Ehtisham Ul Haq, Waseem, Syeda Seema, Iqbal, Maria, Abdullah, Uzma ORCID: 0000-0002-7168-8266, Hussain, Ghulam, Asif, Maria, Budde, Birgit, Hoehne, Wolfgang, Tinschert, Sigrid, Saadi, Saadia Maryam ORCID: 0000-0001-5962-2101, Yousaf, Hammad, Ali, Zafar ORCID: 0000-0002-2389-3337, Fatima, Ambrin, Kaygusuz, Emrah, Khan, Ayaz, Jameel, Muhammad, Khan, Sheraz, Tariq, Muhammad ORCID: 0000-0002-5334-403X, Anjum, Iram, Altmueller, Janine, Thiele, Holger, Hoening, Stefan, Baig, Shahid Mahmood, Nuernberg, Peter and Hussain, Muhammad Sajid (2021). Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ. Genes, 12 (5). BASEL: MDPI. ISSN 2073-4425

Rasool, Sajida, Baig, Jamshaid Mahmood, Moawia, Abubakar, Ahmad, Ilyas, Iqbal, Maria, Waseem, Syeda Seema, Asif, Maria, Abdullah, Uzma, Makhdoom, Ehtisham Ul Haq, Kaygusuz, Emrah, Zakaria, Muhammad, Ramzan, Shafaq, ul Haque, Saif, Mir, Asif, Anjum, Iram ORCID: 0000-0002-9015-3179, Fiaz, Mehak, Ali, Zafar, Tariq, Muhammad, Saba, Neelam, Hussain, Wajid, Budde, Birgit, Irshad, Saba, Noegel, Angelika Anna, Hoening, Stefan, Baig, Shahid Mahmood, Nuernberg, Peter and Hussain, Muhammad Sajid (2020). An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan. Mol. Genet. Genom. Med., 8 (9). HOBOKEN: WILEY. ISSN 2324-9269

Yigit, Gokhan, Sheffer, Ruth, Daana, Muhannad, Li, Yun, Kaygusuz, Emrah, Mor-Shakad, Hagar, Altmueller, Janine, Nuernberg, Peter, Douiev, Liza ORCID: 0000-0001-5120-698X, Kaulfuss, Silke ORCID: 0000-0003-2577-9711, Burfeind, Peter, Wollnik, Bernd ORCID: 0000-0003-2589-0364 and Brockmann, Knut . Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state. J. Med. Genet.. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

Thesis Abstract

Kaygusuz, Emrah (2017). Role of CSNK2B encoding casein kinase II subunit beta in Filippi Syndrome. Thesis Abstract, Universität zu Köln.