Universität zu Köln

Journal Article

Cunha, Dulce Lima, Alakloby, Omar Mohammed, Gruber, Robert, Kakar, Naseebullah, Ahmad, Jamil, Alawbathani, Salem, Plank, Roswitha, Eckl, Katja, Krabichler, Birgit, Altmueller, Janine, Nuernberg, Peter, Zschocke, Johannes, Borck, Guntram, Schmuth, Matthias ORCID: 0000-0002-4064-1334, Alabdulkareem, Adnan S., Alnutaifi, Kholood Abdulaziz and Hennies, Hans Christian (2019). Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan. Mol. Genet. Genom. Med., 7 (3). HOBOKEN: WILEY. ISSN 2324-9269

Easton, Douglas F., Lesueur, Fabienne ORCID: 0000-0001-7404-4549, Decker, Brennan ORCID: 0000-0003-4516-7421, Michailidou, Kyriaki ORCID: 0000-0001-7065-1237, Li, Jun ORCID: 0000-0003-1553-8105, Allen, Jamie ORCID: 0000-0002-8677-2225, Luccarini, Craig, Pooley, Karen A., Shah, Mitul, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Ahmad, Jamil, Thompson, Ella R., Damiola, Francesca ORCID: 0000-0002-0238-1252, Pertesi, Maroulio, Voegele, Catherine, Mebirouk, Noura, Robinot, Nivonirina, Durand, Geoffroy, Forey, Nathalie, Luben, Robert N., Ahmed, Shahana, Aittomaki, Kristiina, Anton-Culver, Hoda, Arndt, Volker ORCID: 0000-0001-9320-8684, Baynes, Caroline, Beckman, Matthias W., Benitez, Javier, Van Den Berg, David, Blot, William J., Bogdanova, Natalia V., Bojesen, Stig E., Brenner, Hermann ORCID: 0000-0002-6129-1572, Chang-Claude, Jenny, Chia, Kee Seng, Choi, Ji-Yeob, Conroy, Don M., Cox, Angela ORCID: 0000-0002-5138-1099, Cross, Simon S., Czene, Kamila, Darabi, Hatef, Devilee, Peter ORCID: 0000-0002-8023-2009, Eriksson, Mikael, Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, Fostira, Florentia, Garcia-Closas, Montserrat, Giles, Graham G., Glendon, Gord, Gonzalez-Neira, Anna ORCID: 0000-0002-5421-2020, Guenel, Pascal ORCID: 0000-0002-8359-518X, Haiman, Christopher A., Hall, Per, Hart, Steven N., Hartman, Mikael ORCID: 0000-0001-5726-9965, Hooning, Maartje J., Hsiung, Chia-Ni, Ito, Hidemi, Jakubowska, Anna ORCID: 0000-0002-5650-0501, James, Paul A., John, Esther M., Johnson, Nichola, Jones, Michael ORCID: 0000-0001-7479-3451, Kabisch, Maria, Kang, Daehee, Kosma, Veli-Matti, Kristensen, Vessela, Lambrechts, Diether ORCID: 0000-0002-3429-302X, Li, Na, Lindblom, Annika, Long, Jirong ORCID: 0000-0002-7433-9766, Lophatananon, Artitaya, Lubinski, Jan ORCID: 0000-0003-2931-3003, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Matsuo, Keitaro ORCID: 0000-0003-1761-6314, Meindl, Alfons, Mitchell, Gillian, Muir, Kenneth, Nevelsteen, Ines, van den Ouweland, Ans, Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Phuah, Sze Yee, Pylkas, Katri ORCID: 0000-0002-2449-0521, Rowley, Simone M., Sangrajrang, Suleeporn, Schmutzler, Rita K., Shen, Chen-Yang, Shu, Xiao-Ou, Southey, Melissa C., Surowy, Harald ORCID: 0000-0002-3595-9188, Swerdlow, Anthony ORCID: 0000-0001-5550-4159, Teo, Soo H., Tollenaar, Rob A. E. M., Tomlinson, Ian, Torres, Diana, Truong, Therese, Vachon, Celine, Verhoef, Senno, Wong-Brown, Michelle ORCID: 0000-0003-2827-2852, Zheng, Wei ORCID: 0000-0003-1226-070X, Zheng, Ying, Nevanlinna, Heli, Scott, Rodney J., Andrulis, Irene L., Wu, Anna H., Hopper, John L., Couch, Fergus J., Winqvist, Robert, Burwinkel, Barbara, Sawyer, Elinor J., Schmidt, Marjanka K., Rudolph, Anja, Doerk, Thilo, Brauch, Hiltrud ORCID: 0000-0001-7531-2736, Hamann, Ute, Neuhausen, Susan L., Milne, Roger L., Fletcher, Olivia ORCID: 0000-0001-9387-7116, Pharoah, Paul D. P., Campbell, Ian G., Dunning, Alison M., Le Calvez-Kelm, Florence ORCID: 0000-0003-0063-5068, Goldgar, David E., Tavtigian, Sean V. and Chenevix-Trench, Georgia ORCID: 0000-0002-1878-2587 (2016). No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing. J. Med. Genet., 53 (5). S. 298 - 310. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

Kakar, Naseebullah, Ahmad, Jamil, Morris-Rosendahl, Deborah J., Altmueller, Janine, Friedrich, Katrin, Barbi, Gotthold, Nuernberg, Peter, Kubisch, Christian ORCID: 0000-0003-4220-0978, Dobyns, William B. and Borck, Guntram (2015). STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly. Hum. Genet., 134 (1). S. 45 - 52. NEW YORK: SPRINGER. ISSN 1432-1203

Kakar, Naseebullah, Goebel, Ingrid, Daud, Shakeela, Nuernberg, Gudrun, Agha, Noor, Ahmad, Adeel, Nuernberg, Peter, Kubisch, Christian ORCID: 0000-0003-4220-0978, Ahmad, Jamil and Borck, Guntram (2012). A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly. Eur. J. Med. Genet., 55 (12). S. 727 - 732. AMSTERDAM: ELSEVIER. ISSN 1878-0849

Ng, Joanne ORCID: 0000-0002-7946-9965, Zhen, Juan ORCID: 0000-0002-6111-9692, Meyer, Esther, Erreger, Kevin, Li, Yan, Kakar, Naseebullah, Ahmad, Jamil, Thiele, Holger, Kubisch, Christian ORCID: 0000-0003-4220-0978, Rider, Nicholas L., Morton, D. Holmes, Strauss, Kevin A., Puffenberger, Erik G., D'Agnano, Daniela, Anikster, Yair, Carducci, Claudia, Hyland, Keith, Rotstein, Michael, Leuzzi, Vincenzo ORCID: 0000-0002-2314-6139, Borck, Guntram, Reith, Maarten E. A. and Kurian, Manju A. (2014). Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood. Brain, 137. S. 1107 - 1120. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Spielmann, Malte ORCID: 0000-0002-0583-4683, Kakar, Naseebullah, Tayebi, Naeimeh, Leettola, Catherine, Nuernberg, Gudrun, Sowada, Nadine, Lupianez, Dario G. ORCID: 0000-0002-3165-036X, Harabula, Izabela, Floettmann, Ricarda, Horn, Denise, Chan, Wing Lee, Wittler, Lars, Yilmaz, Ruestem, Altmueller, Janine, Thiele, Holger, van Bokhoven, Hans, Schwartz, Charles E., Nuernberg, Peter, Bowie, James U., Ahmad, Jamil, Kubisch, Christian ORCID: 0000-0003-4220-0978, Mundlos, Stefan and Borck, Guntram (2016). Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice. Genome Res., 26 (2). S. 183 - 192. COLD SPRING HARBOR: COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT. ISSN 1549-5469

Ullah, Irfan, Kakar, Naseebullah, Schrauwen, Isabelle ORCID: 0000-0001-7310-6082, Hussain, Shabir ORCID: 0000-0001-5744-4292, Chakchouk, Imen, Liaqat, Khurram, Acharya, Anushree, Wasif, Naveed, Santos-Cortez, Regie Lyn P., Khan, Saadullah ORCID: 0000-0001-5037-1473, Aziz, Abdul, Lee, Kwanghyuk, Couthouis, Julien, Horn, Denise, Kragesteen, Bjort K., Spielmann, Malte, Thiele, Holger, Nickerson, Deborah A., Bamshad, Michael J., Gitler, Aaron D., Ahmad, Jamil, Ansar, Muhammad ORCID: 0000-0001-5891-7063, Borck, Guntram, Ahmad, Wasim and Leal, Suzanne M. (2019). Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. Hum. Genet., 138 (6). S. 593 - 601. NEW YORK: SPRINGER. ISSN 1432-1203