Universität zu Köln

Journal Article

Collins, Ryan L., Glessner, Joseph T., Porcu, Eleonora, Lepamets, Maarja, Brandon, Rhonda, Lauricella, Christopher, Han, Lide, Morley, Theodore, Niestroj, Lisa-Marie, Ulirsch, Jacob ORCID: 0000-0002-7947-0827, Everett, Selin, Howrigan, Daniel P., Boone, Philip M., Fu, Jack ORCID: 0000-0003-4152-5471, Karczewski, Konrad J., Kellaris, Georgios, Lowther, Chelsea, Lucente, Diane, Mohajeri, Kiana, Noukas, Margit, Nuttle, Xander, Samocha, Kaitlin E., Trinh, Mi ORCID: 0000-0003-4185-0071, Ullah, Farid, Vosa, Urmo, Hurles, Matthew E., Aradhya, Swaroop, Davis, Erica E., Finucane, Hilary, Gusella, James F., Janze, Aura, Katsanis, Nicholas, Matyakhina, Ludmila, Neale, Benjamin M., Sanders, David, Warren, Stephanie, Hodge, Jennelle C., Lal, Dennis, Ruderfer, Douglas M., Meck, Jeanne, Magi, Reedik, Esko, Tonu, Reymond, Alexandre, Kutalik, Zoltan ORCID: 0000-0001-8285-7523, Hakonarson, Hakon, Sunyaev, Shamil, Brand, Harrison and Talkowski, Michael E. (2022). A cross-disorder dosage sensitivity map of the human genome. Cell, 185 (16). S. 3041 - 3082. CAMBRIDGE: CELL PRESS. ISSN 1097-4172

Demarest, Scott T., Olson, Heather E., Moss, Angela, Pestana-Knight, Elia, Zhang, Xiaoming, Parikh, Sumit, Swanson, Lindsay C., Riley, Katherine D., Bazin, Grace A., Angione, Katie, Niestroj, Lisa-Marie, Lai, Dennis, Juarez-Colunga, Elizabeth and Benke, Tim A. (2019). CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development. Epilepsia, 60 (8). S. 1733 - 1743. HOBOKEN: WILEY. ISSN 1528-1167

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

Leu, Costin, Bautista, Jocelyn F., Sudarsanam, Monica, Niestroj, Lisa-Marie, Stefanski, Arthur, Ferguson, Lisa, Daly, Mark J., Jehi, Lara, Najm, Imad M., Busch, Robyn M. and Lal, Dennis (2020). Neurological disorder-associated genetic variants in individuals with psychogenic nonepileptic seizures. Sci Rep, 10 (1). BERLIN: NATURE RESEARCH. ISSN 2045-2322

Lopez-Rivera, Javier A., Leu, Costin, Macnee, Marie, Khoury, Jean, Hoffmann, Lucas ORCID: 0000-0002-3801-1595, Coras, Roland, Kobow, Katja ORCID: 0000-0002-0074-2480, Bhattarai, Nisha, Perez-Palma, Eduardo, Hamer, Hajo, Brandner, Sebastian, Roessler, Karl, Bien, Christian G. ORCID: 0000-0003-2225-8654, Kalbhenn, Thilo, Pieper, Tom, Hartlieb, Till, Butler, Elizabeth, Genovese, Giulio, Becker, Kerstin, Altmueller, Janine, Niestroj, Lisa-Marie, Ferguson, Lisa, Busch, Robyn M., Nuernberg, Peter, Najm, Imad, Bluemcke, Ingmar and Lal, Dennis . The genomic landscape across 474 surgically accessible epileptogenic human brain lesions. Brain. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Mehrjoo, Zohreh, Fattahi, Zohreh, Beheshtian, Maryam, Gossmann, Yasmina, Helwing, Barbara, Niestroj, Lisa-Marie, Toliat, Mohammad Reza, Nuernberg, Peter, Kahrizi, Kimia, Najmabadi, Hossein and Nothnagel, Michael ORCID: 0000-0001-8305-7114 (2017). Distinct Human Genetic Variation in Iran. Hum. Hered., 83 (5). S. 241 - 242. BASEL: KARGER. ISSN 1423-0062

Mehrjoo, Zohreh ORCID: 0000-0003-3296-6283, Fattahi, Zohreh, Beheshtian, Maryam, Mohseni, Marzieh, Poustchi, Hossein, Ardalani, Fariba, Jalalvand, Khadijeh, Arzhangi, Sanaz, Mohammadi, Zahra, Khoshbakht, Shahrouz, Najafi, Farid, Nikuei, Pooneh, Haddadi, Mohammad, Zohrehvand, Elham, Oladnabi, Morteza, Mohammadzadeh, Akbar, Jafari, Mandana Hadi, Akhtarkhavari, Tara, Gooshki, Ehsan Shamsi, Haghdoost, Aliakbar, Najafipour, Reza, Niestroj, Lisa-Marie, Helwing, Barbara ORCID: 0000-0001-9226-1053, Gossmann, Yasmina, Toliat, Mohammad Reza, Malekzadeh, Reza, Nuernberg, Peter, Kahrizi, Kimia, Najmabadi, Hossein and Nothnagel, Michael ORCID: 0000-0001-8305-7114 (2019). Distinct genetic variation and heterogeneity of the Iranian population. PLoS Genet., 15 (9). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1553-7404

Niestroj, Lisa-Marie, Du, Juanjiangmeng, Nothnagel, Michael ORCID: 0000-0001-8305-7114, May, Patrick ORCID: 0000-0001-8698-3770, Palotie, Aarno, Daly, Mark J., Nuernberg, Peter, Bluemcke, Ingmar and Lal, Dennis (2018). Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies. Epilepsia, 59 (11). S. 2145 - 2153. HOBOKEN: WILEY. ISSN 1528-1167

Niestroj, Lisa-Marie, May, Patrick ORCID: 0000-0001-8698-3770, Artomov, Mykyta ORCID: 0000-0001-5282-8764, Kobow, Katja ORCID: 0000-0002-0074-2480, Coras, Roland, Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Leu, Costin, Palotie, Aarno, Daly, Mark J., Klein, Karl Martin ORCID: 0000-0002-6654-1665, Beschorner, Rudi, Weber, Yvonne G., Bluemcke, Ingmar and Lal, Dennis (2019). Assessment of genetic variant burden in epilepsy-associated brain lesions. Eur. J. Hum. Genet., 27 (11). S. 1738 - 1745. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

Niestroj, Lisa-Marie, Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Howrigan, Daniel P., Zhou, Yadi, Cheng, Feixiong, Saarentaus, Elmo ORCID: 0000-0002-8475-7187, Nuernberg, Peter, Stevelink, Remi, Daly, Mark J., Palotie, Aarno and Lal, Dennis (2020). Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects. Brain, 143. S. 2106 - 2119. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

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

Sarihan, Elif Irem, Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Niestroj, Lisa-Marie, Loesch, Douglas, Inca-Martinez, Miguel, Horimoto, Andrea R. V. R., Cornejo-Olivas, Mario, Torres, Luis, Mazzetti, Pilar, Cosentino, Carlos, Sarapura-Castro, Elison, Rivera-Valdivia, Andrea, Dieguez, Elena, Raggio, Victor, Lescano, Andres, Tumas, Vitor ORCID: 0000-0003-2402-2709, Borges, Vanderci, Ferraz, Henrique B., Rieder, Carlos R., Schumacher-Schuh, Artur F., Santos-Lobato, Bruno L., Velez-Pardo, Carlos, Jimenez-Del-Rio, Marlene, Lopera, Francisco, Moreno, Sonia, Chana-Cuevas, Pedro, Fernandez, William, Arboleda, Gonzalo, Arboleda, Humberto, Arboleda-Bustos, Carlos E., Yearout, Dora, Zabetian, Cyrus P., Thornton, Timothy A., O'Connor, Timothy D., Lal, Dennis and Mata, Ignacio F. . Genome-Wide Analysis of Copy Number Variation in Latin American Parkinson's Disease Patients. Mov. Disord.. HOBOKEN: WILEY. ISSN 1531-8257

Yehia, Lamis ORCID: 0000-0002-6389-3059, Seyfi, Marilyn, Niestroj, Lisa-Marie, Padmanabhan, Roshan, Ni, Ying, Frazier, Thomas W., Lal, Dennis and Eng, Charis (2020). Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations. JAMA Netw. Open, 3 (1). CHICAGO: AMER MEDICAL ASSOC. ISSN 2574-3805

Thesis Abstract

Niestroj, Lisa-Marie (2019). Evaluation of rare DNA variants in patients of different epilepsy types. Thesis Abstract, Universität zu Köln.