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Number of items: 19.

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

Asif, Maria, Mocanu, Ionut Dragos, Abdullah, Uzma, Hoehne, Wolfgang, Altmueller, Janine, Makhdoom, Ehtisham Ul Haq, Thiele, Holger, Baig, Shahid Mahmood, Nuernberg, Peter, Graul-Neumann, Luitgard and Hussain, Muhammad Sajid (2022). A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish family. Am. J. Med. Genet. A, 188 (4). S. 1251 - 1259. HOBOKEN: WILEY. ISSN 1552-4833

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

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

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

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

Kinfe, Thomas M. ORCID: 0000-0002-4888-543X, Asif, Maria, Chakravarthy, Krishnan V., Deer, Timothy R., Kramer, Jeffery M., Yearwood, Thomas L., Hurlemann, Rene ORCID: 0000-0003-2628-565X, Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809, Motameny, Susanne, Wagle, Prerana, Nuernberg, Peter, Gravius, Sascha, Randau, Thomas ORCID: 0000-0002-5224-9639, Gravius, Nadine, Chaudhry, Shafqat R. and Muhammad, Sajjad (2019). Unilateral L4-dorsal root ganglion stimulation evokes pain relief in chronic neuropathic postsurgical knee pain and changes of inflammatory markers: part II whole transcriptome profiling. J. Transl. Med., 17. LONDON: BMC. ISSN 1479-5876

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

Martin, Carol-Anne ORCID: 0000-0001-5914-2757, Ahmad, Ilyas, Klingseisen, Anna, Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809, Bicknell, Louise S., Leitch, Andrea, Nuernberg, Gudrun, Toliat, Mohammad Reza, Murray, Jennie E., Hunt, David, Khan, Fawad, Ali, Zafar ORCID: 0000-0002-2389-3337, Tinschert, Sigrid, Ding, James ORCID: 0000-0001-7273-9646, Keith, Charlotte, Harley, Margaret E., Heyn, Patricia, Mueller, Rolf, Hoffmann, Ingrid, Cormier-Daire, Valerie, Dollfus, Helene, Dupuis, Lucie, Bashamboo, Anu, McElreavey, Kenneth, Kariminejad, Ariana ORCID: 0000-0002-8467-4728, Mendoza-Londono, Roberto, Moore, Anthony T., Saggar, Anand, Schlechter, Catie, Weleber, Richard, Thiele, Holger, Altmueller, Janine, Hoehne, Wolfgang, Hurles, Matthew E., Noegel, Angelika Anna, Baig, Shahid Mahmood, Nuernberg, Peter and Jackson, Andrew P. (2014). Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy. Nature Genet., 46 (12). S. 1283 - 1293. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1546-1718

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

Rasool, Sajida, Irshad, Saba, Saba, Neelam, Fiaz, Mehak, Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809, Hussain, Muhammad Wajid and Nuernberg, Peter (2020). A Novel Homozygous Nonsense Variant in BICD2 Underlies Hereditary Spastic Paraplegia Complex Type. Pak. J. Zool., 52 (2). S. 727 - 733. LAHORE: ZOOLOGICAL SOC PAKISTAN. ISSN 0030-9923

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

Szczepanski, Sandra, Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809, Sur, Ilknur, Altmueller, Janine, Thiele, Holger, Abdullah, Uzma, Waseem, Syeda Seema, Moawia, Abubakar, Nuernberg, Gudrun, Noegel, Angelika Anna, Baig, Shahid Mahmood and Nuernberg, Peter (2016). A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family. Hum. Genet., 135 (2). S. 157 - 171. NEW YORK: SPRINGER. ISSN 1432-1203

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

Young, Natalie, Asif, Maria, Jackson, Matthew, Martin Fernandez-Mayoralas, Daniel, Jimenez de la Pena, Mar, Calleja-Perez, Beatriz, Alvarez, Sara, Hunter-Featherstone, Eve, Noegel, Angelika A., Hohne, Wolfgang, Nuernberg, Peter, Obara, Boguslaw ORCID: 0000-0003-4084-7778, Hussain, Muhammad Sajid, Karakesisoglou, Iakowos and Fernandez-Jaen, Alberto (2021). Biallelic SYNE2 Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and Autism. Genes, 12 (9). BASEL: MDPI. ISSN 2073-4425

Thesis

Hussain, Muhammad Sajid (2011). Molecular Genetic Analysis of Autosomal Recessive Primary Microcephaly in Pakistani Kindreds. PhD thesis, Universität zu Köln.

This list was generated on Tue Mar 19 08:54:27 2024 CET.