Universität zu Köln

Journal Article

Balak, Chris, Benard, Marianne, Schaefer, Elise, Iqbal, Sumaiya, Ramsey, Keri, Ernoult-Lange, Michele, Mattioli, Francesca, Llaci, Lorida, Geoffroy, Veronique, Courel, Maite, Naymik, Marcus, Bachman, Kristine K., Pfundt, Rolph, Rump, Patrick, ter Beest, Johanna, Wentzensen, Ingrid M., Monaghan, Kristin G., McWalter, Kirsty, Richholt, Ryan, Le Bechec, Antony, Jepsen, Wayne, De Both, Matt, Belnap, Newell, Boland, Anne, Piras, Ignazio S., Deleuze, Jean-Francois, Szelinger, Szabolcs, Dollfus, Helene, Chelly, Jamel, Muller, Jean ORCID: 0000-0002-7682-559X, Campbell, Arthur, Lal, Dennis, Rangasamy, Sampathkumar ORCID: 0000-0003-2151-9162, Mandel, Jean-Louis, Narayanan, Vinodh, Huentelman, Matt, Weil, Dominique and Piton, Amelie ORCID: 0000-0003-0408-7468 (2019). Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation. Am. J. Hum. Genet., 105 (3). S. 509 - 526. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Brunklaus, Andreas, Leu, Costin, Gramm, Marie, Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Iqbal, Sumaiya and Lal, Dennis (2020). Time to move beyond genetics towards biomedical data-driven translational genomic research in severe paediatric epilepsies. Eur. J. Paediatr. Neurol., 24. S. 35 - 40. OXFORD: ELSEVIER SCI LTD. ISSN 1532-2130

Du, Juanjiangmeng, Sudarsanam, Monica, Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Ganna, Andrea ORCID: 0000-0002-8147-240X, Francioli, Laurent, Iqbal, Sumaiya, Niestroj, Lisa-Marie, Leu, Costin, Weisburd, Ben, Poterba, Tim, Nuernberg, Peter, Daly, Mark J., Palotie, Aarno, May, Patrick ORCID: 0000-0001-8698-3770 and Lal, Dennis (2019). Variant Score Ranker-a web application for intuitive missense variant prioritization. Bioinformatics, 35 (21). S. 4478 - 4480. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2059

Heyne, Henrike O., Baez-Nieto, David, Iqbal, Sumaiya ORCID: 0000-0001-7700-4374, Palmer, Duncan S., Brunklaus, Andreas ORCID: 0000-0002-7728-6903, May, Patrick ORCID: 0000-0001-8698-3770, Johannesen, Katrine M., Lauxmann, Stephan, Lemke, Johannes R., Moller, Rikke S., Perez-Palma, Eduardo, Scholl, Ute, I, Syrbe, Steffen, Lerche, Holger, Lal, Dennis, Campbell, Arthur J., Wang, Hao-Ran, Pan, Jen and Daly, Mark J. (2020). Predicting functional effects of missense variants in voltage-gated sodium and calcium channels. Sci. Transl. Med., 12 (556). WASHINGTON: AMER ASSOC ADVANCEMENT SCIENCE. ISSN 1946-6242

Iqbal, Sumaiya ORCID: 0000-0001-7700-4374, Bruenger, Tobias, Perez-Palma, Eduardo, Macnee, Marie, Brunklaus, Andreas ORCID: 0000-0002-7728-6903, Daly, Mark J., Campbell, Arthur J., Hoksza, David ORCID: 0000-0003-4679-0557, May, Patrick ORCID: 0000-0001-8698-3770 and Lal, Dennis (2023). Delineation of functionally essential protein regions for 242 neurodevelopmental genes. Brain, 146 (2). S. 519 - 534. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Iqbal, Sumaiya ORCID: 0000-0001-7700-4374, Hoksza, David ORCID: 0000-0003-4679-0557, Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, May, Patrick ORCID: 0000-0001-8698-3770, Jespersen, Jakob B., Ahmed, Shehab S., Rifat, Zaara T., Heyne, Henrike O., Rahman, M. Sohel, Cottrell, Jeffrey R., Wagner, Florence F., Daly, Mark J., Campbell, Arthur J. and Lal, Dennis (2020). MISCAST: MIssense variant to protein StruCture Analysis web SuiTe. Nucleic Acids Res., 48 (W1). S. W132 - 8. OXFORD: OXFORD UNIV PRESS. ISSN 1362-4962

Iqbal, Sumaiya, Jespersen, Jakob Berg, Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Mayo, Patrick, Heyne, Henrike, Lage, Kasper, Moller, Rikke Steensbjerre, Wagner, Florence F., Daly, Mark, Campbell, Arthur J. and Lal, Dennis (2018). Identification and Characterization of Variant Intolerant Sites across Human Protein 3-Dimensional Structures. Biophys. J., 114 (3). S. 664A - 665. CAMBRIDGE: CELL PRESS. ISSN 1542-0086

Iqbal, Sumaiya ORCID: 0000-0001-7700-4374, Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Jespersen, Jakob B., May, Patrick ORCID: 0000-0001-8698-3770, Hoksza, David, Heyne, Henrike O., Ahmed, Shehab S., Rifat, Zaara T., Rahman, M. Sohel ORCID: 0000-0001-9419-6478, Lage, Kasper, Palotie, Aarno, Cottrell, Jeffrey R., Wagner, Florence F., Daly, Mark J., Campbell, Arthur J. and Lal, Dennis (2020). Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants. Proc. Natl. Acad. Sci. U. S. A., 117 (45). S. 28201 - 28212. WASHINGTON: NATL ACAD SCIENCES. ISSN 0027-8424

Johannesen, Katrine M., Iqbal, Sumaiya, Guazzi, Milena, Mohammadi, Nazanin A., Perez-Palma, Eduardo, Schaefer, Elise, De Saint Martin, Anne, Abiwarde, Marie Therese, McTague, Amy, Pons, Roser, Piton, Amelie, Kurian, Manju A., Ambegaonkar, Gautam, Firth, Helen, Sanchis-Juan, Alba, Deprez, Marie, Jansen, Katrien, De Waele, Liesbeth, Briltra, Eva H., Verbeek, Nienke E., van Kempen, Marjan, Fazeli, Walid, Striano, Pasquale, Zara, Federico, Visser, Gerhard, Braakman, Hilde M. H., Haeusler, Martin, Elbracht, Miriam, Vaher, Ulvi, Smol, Thomas ORCID: 0000-0002-0119-5896, Lemke, Johannes R., Platzer, Konrad, Kennedy, Joanna, Klein, Karl Martin ORCID: 0000-0002-6654-1665, Au, Ping Yee Billie, Smyth, Kimberly, Kaplan, Julie, Thomas, Morgan, Dewenter, Malin K., Dinopoulos, Argirios, Campbell, Arthur J., Lal, Dennis, Lederer, Damien, Liao, Vivian W. Y., Ahring, Philip K., Moller, Rikke S. ORCID: 0000-0002-9664-1448 and Gardella, Elena (2022). Structural mapping of GABRB3 variants reveals genotype-phenotype correlations. Genet. Med., 24 (3). S. 681 - 694. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1530-0366

Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, May, Patrick ORCID: 0000-0001-8698-3770, Iqbal, Sumaiya, Niestroj, Lisa-Marie, Du, Juanjiangmeng, Heyne, Henrike O., Castrillon, Jessica A., O'Donnell-Luria, Anne ORCID: 0000-0001-6418-9592, Nuernberg, Peter, Palotie, Aarno, Daly, Mark and Lal, Dennis (2020). Identification of pathogenic variant enriched regions across genes and gene families. Genome Res., 30 (1). S. 62 - 72. COLD SPRING HARBOR: COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT. ISSN 1549-5469