Universität zu Köln

Journal Article

Ahmad, Ilyas ORCID: 0000-0003-4845-9227, Khan, Ayaz ORCID: 0000-0002-4743-7387, Noor Ul Ayan, Hafiza, Budde, Birgit, Altmueller, Janine, Korejo, Asad Aslam, Nurnberg, Gudrun, Thiele, Holger, Tariq, Muhmmad, Nuernberg, Peter and Erdmann, Jeanette (2023). A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family. J. Hum. Genet., 68 (2). S. 107 - 110. LONDON: SPRINGERNATURE. ISSN 1435-232X

Braun, Daniela A., Lovric, Svjetlana, Schapiro, David, Schneider, Ronen, Marquez, Jonathan ORCID: 0000-0003-3377-7599, Asif, Maria, Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809, Daga, Ankana, Widmeier, Eugen ORCID: 0000-0002-7773-5190, Rao, Jia, Ashraf, Shazia, Tan, Weizhen, Lusk, C. Patrick, Kolb, Amy, Jobst-Schwan, Tilman ORCID: 0000-0001-9802-6783, Schmidt, Johanna Magdalena, Hoogstraten, Charlotte A., Eddy, Kaitlyn, Kitzler, Thomas M., Shril, Shirlee, Moawia, Abubakar, Schrage, Kathrin, Khayyat, Arwa Ishaq A., Lawson, Jennifer A., Gee, Heon Yung ORCID: 0000-0002-8741-6177, Warejko, Jillian K., Hermle, Tobias ORCID: 0000-0002-0441-7749, Majmundar, Amar J., Hugo, Hannah, Budde, Birgit, Motameny, Susanne, Altmueller, Janine, Noegel, Angelika Anna, Fathy, Hanan M., Gale, Daniel P., Waseem, Syeda Seema, Khan, Ayaz, Kerecuk, Larissa, Hashmi, Seema, Mohebbi, Nilufar, Ettenger, Robert, Serdaroglu, Erkin ORCID: 0000-0002-6863-8866, Alhasan, Khalid A., Hashem, Mais, Goncalves, Sara, Ariceta, Gema, Ubetagoyena, Mercedes, Antonin, Wolfram, Baig, Shahid Mahmood, Alkuraya, Fowzan S., Shen, Qian, Xu, Hong, Antignac, Corinne, Lifton, Richard P., Mane, Shrikant, Nuernberg, Peter, Khokha, Mustafa K. and Hildebrandt, Friedhelm (2018). Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. J. Clin. Invest., 128 (10). S. 4313 - 4329. ANN ARBOR: AMER SOC CLINICAL INVESTIGATION INC. ISSN 1558-8238

Dufour, William, Alawbathani, Salem, Jourdain, Anne-Sophie, Asif, Maria, Baujat, Genevieve, Becker, Christian, Budde, Birgit, Gallacher, Lyndon, Georgomanolis, Theodoros, Ghoumid, Jamal, Hoehne, Wolfgang, Lyonnet, Stanislas, Ba-Saddik, Iman Ali, Manouvrier-Hanu, Sylvie, Motameny, Susanne, Noegel, Angelika A., Pais, Lynn, Vanlerberghe, Clemence, Wagle, Prerana, White, Susan M., Willems, Marjolaine, Nuernberg, Peter, Escande, Fabienne, Petit, Florence and Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809 (2022). Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling. Genet. Med., 24 (8). S. 1708 - 1722. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1530-0366

Iqbal, Maria, Maroofian, Reza, Cavdarli, Busranur, Riccardi, Florence ORCID: 0000-0002-7223-2172, Field, Michael, Banka, Siddharth ORCID: 0000-0002-8527-2210, Bubshait, Dalal K., Li, Yun, Hertecant, Jozef, Baig, Shahid Mahmood, Dyment, David, Efthymiou, Stephanie ORCID: 0000-0003-4900-9877, Abdullah, Uzma ORCID: 0000-0002-7168-8266, Makhdoom, Ehtisham Ul Haq, Ali, Zafar ORCID: 0000-0002-2389-3337, de Almeida, Tobias Scherf, Molinari, Florence ORCID: 0000-0001-5111-7215, Mignon-Ravix, Cecile, Chabrol, Brigitte, Antony, Jayne, Ades, Lesley, Pagnamenta, Alistair T., Jackson, Adam, Douzgou, Sofia, Beetz, Christian, Karageorgou, Vasiliki, Vona, Barbara ORCID: 0000-0002-6719-3447, Rad, Aboulfazl, Baig, Jamshaid Mahmood, Sultan, Tipu, Alvi, Javeria Raza, Maqbool, Shazia, Rahman, Fatima, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Karimiani, Ehsan Ghayoor, Sarwar, Yasra, Khan, Sheraz ORCID: 0000-0003-3207-4074, Jameel, Muhammad, Noegel, Angelika A., Budde, Birgit ORCID: 0000-0001-9385-4168, Altmueller, Janine, Motameny, Susanne, Hoehne, Wolfgang, Houlden, Henry, Nuernberg, Peter, Wollnik, Bernd ORCID: 0000-0003-2589-0364, Villard, Laurent ORCID: 0000-0001-6657-5008, Alkuraya, Fowzan Sami, Osmond, Matthew, Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809 and Yigit, Gokhan ORCID: 0000-0003-2777-0198 (2021). Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies. Genet. Med., 23 (11). S. 2138 - 2150. LONDON: SPRINGERNATURE. ISSN 1530-0366

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

Moawia, Abubakar, Shaheen, Ranad, Rasool, Sajida, Waseem, Syeda Seema, Ewida, Nour, Budde, Birgit, Kawalia, Amit, Motameny, Susanne, Khan, Kamal, Fatima, Ambrin, Jameel, Muhammad, Ullah, Farid, Akram, Talia, Ali, Zafar, Abdullah, Uzma, Irshad, Saba, Hoehne, Wolfgang, Noegel, Angelika Anna, Al-Owain, Mohammed, Hoertnagel, Konstanze, Stoebe, Petra, Baig, Shahid Mahmood, Nuernberg, Peter, Alkuraya, Fowzan Sami, Hahn, Andreas and Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809 (2017). Mutations of KIF14 cause primary microcephaly by impairing cytokinesis. Ann. Neurol., 82 (4). S. 562 - 578. HOBOKEN: WILEY. ISSN 1531-8249

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

Sukumaran, Salil K., Stumpf, Maria, Salamon, Sarah, Ahmad, Ilyas, Bhattacharya, Kurchi, Fischer, Sarah ORCID: 0000-0001-6227-3950, Mueller, Rolf, Altmueller, Janine, Budde, Birgit, Thiele, Holger, Tariq, Muhammad ORCID: 0000-0002-5334-403X, Malik, Naveed Altaf, Nuernberg, Peter, Baig, Shahid Mahmood, Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809 and Noegel, Angelika A. (2017). CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly. Mol. Genet. Genomics, 292 (2). S. 365 - 384. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1617-4623

Waseem, Syeda Seema, Moawia, Abubakar, Budde, Birgit, Tariq, Muhammad ORCID: 0000-0002-5334-403X, Khan, Ayaz, Ali, Zafar ORCID: 0000-0002-2389-3337, Khan, Sheraz, Iqbal, Maria, Malik, Naveed Altaf ORCID: 0000-0002-7392-9449, ul Haque, Saif, Altmueller, Janine, Thiele, Holger, Hussain, Muhammad Sajid, Cirak, Sebahattin, Baig, Shahid Mahmood and Nuernberg, Peter (2021). A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family. Genes, 12 (10). BASEL: MDPI. ISSN 2073-4425