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Journal Article
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
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.