Universität zu Köln

Baez-Nieto, David ORCID: 0000-0002-2238-8486, Allen, Andrew ORCID: 0000-0002-7232-2143, Akers-Campbell, Seth ORCID: 0000-0002-3214-5883, Yang, Lingling, Budnik, Nikita, Pupo, Amaury, Shin, Young-Cheul, Genovese, Giulio, Liao, Maofu, Perez-Palma, Eduardo, Heyne, Henrike ORCID: 0000-0001-9893-3850, Lal, Dennis, Lipscombe, Diane and Pan, Jen Q. (2022). Analysing an allelic series of rare missense variants of CACNA1I in a Swedish schizophrenia cohort. Brain, 145 (5). S. 1839 - 1854. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Brunger, Tobias, Perez-Palma, Eduardo, Montanucci, Ludovica, Nothnagel, Michael, Moller, Rikke S., Schorge, Stephanie ORCID: 0000-0003-1541-5148, Zuberi, Sameer ORCID: 0000-0002-4489-4697, Symonds, Joseph ORCID: 0000-0002-2141-4216, Lemke, Johannes R., Brunklaus, Andreas ORCID: 0000-0002-7728-6903, Traynelis, Stephen F., May, Patrick ORCID: 0000-0001-8698-3770 and Lal, Dennis (2023). Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes. Brain, 146 (3). S. 923 - 935. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Brunklaus, Andreas ORCID: 0000-0002-7728-6903, Bruenger, Tobias, Feng, Tony, Fons, Carmen, Lehikoinen, Anni, Panagiotakaki, Eleni ORCID: 0000-0003-2611-0227, Vintan, Mihaela-Adela, Symonds, Joseph ORCID: 0000-0002-2141-4216, Andrew, James, Arzimanoglou, Alexis, Delima, Sarah, Gallois, Julie, Hanrahan, Donncha, Lesca, Gaetan, MacLeod, Stewart, Marjanovic, Dragan, McTague, Amy, Nunez-Enamorado, Noemi, Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Scott Perry, M., Pysden, Karen, Russ-Hall, Sophie J., Scheffer, Ingrid E., Sully, Krystal, Syrbe, Steffen, Vaher, Ulvi, Velayutham, Murugan, Vogt, Julie, Weiss, Shelly, Wirrell, Elaine, Zuberi, Sameer M., Lal, Dennis, Moller, Rikke S. ORCID: 0000-0002-9664-1448, Mantegazza, Massimo ORCID: 0000-0002-1070-7929 and Cestele, Sandrine (2022). The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications. Brain, 145 (11). S. 3816 - 3832. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Brunklaus, Andreas ORCID: 0000-0002-7728-6903, Feng, Tony, Brunger, Tobias, Perez-Palma, Eduardo, Heyne, Henrike ORCID: 0000-0001-9893-3850, Matthews, Emma, Semsarian, Christopher, Symonds, Joseph D., Zuberi, Sameer M., Lal, Dennis and Schorge, Stephanie ORCID: 0000-0003-1541-5148 (2022). Gene variant effects across sodium channelopathies predict function and guide precision therapy. Brain, 145 (12). S. 4275 - 4287. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

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

Brunklaus, Andreas ORCID: 0000-0002-7728-6903, Perez-Palma, Eduardo, Ghanty, Ismael, Xinge, Ji, Brilstra, Eva, Ceulemans, Berten ORCID: 0000-0001-7818-0679, Chemaly, Nicole, de Lange, Iris, Depienne, Christel ORCID: 0000-0002-7212-9554, Guerrini, Renzo ORCID: 0000-0002-7272-7079, Mei, Davide, Moller, Rikke S. ORCID: 0000-0002-9664-1448, Nabbout, Rima, Regan, Brigid M., Schneider, Amy L., Scheffer, Ingrid E., Schoonjans, An-Sofie, Symonds, Joseph D., Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Kattan, Michael W., Zuberi, Sameer M. and Lal, Dennis (2022). Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies. Neurology, 98 (11). S. E1163 - 12. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1526-632X

Brunklaus, Andreas ORCID: 0000-0002-7728-6903, Schorge, Stephanie, Smith, Alexander D., Ghanty, Ismael, Stewart, Kirsty, Gardiner, Sarah, Du, Juanjiangmeng, Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Symonds, Joseph D., Collier, Abby C., Lal, Dennis and Zuberi, Sameer M. (2020). SCN1A variants from bench to bedside-improved clinical prediction from functional characterization. Hum. Mutat., 41 (2). S. 363 - 375. HOBOKEN: WILEY. ISSN 1098-1004

Bustos, Bernabe I., Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Buch, Stephan, Azocar, Lorena, Riveras, Eleodoro, Ugarte, Giorgia D., Toliat, Mohammad, Nuernberg, Peter, Lieb, Wolfgang, Franke, Andre, Hinz, Sebastian, Burmeister, Greta, von Schoenfels, Witigo, Schafmayer, Clemens, Voelzke, Henry, Voelker, Uwe, Homuth, Georg, Lerch, Markus M. ORCID: 0000-0002-9643-8263, Luis Santos, Jose, Puschel, Klaus, Bambs, Claudia, Carlos Roa, Juan, Gutierrez, Rodrigo A., Hampe, Jochen ORCID: 0000-0002-2421-6127, De Ferrari, Giancarlo V. and Francisco Miquel, Juan (2019). Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestry. Sci Rep, 9. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

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

Gramm, Marie, Leu, Costin, Perez-Palma, Eduardo, Ferguson, Lisa, Jehi, Lara ORCID: 0000-0002-8041-6377, Daly, Mark J., Najm, Imad M., Busch, Robyn M. and Lal, Dennis (2020). Polygenic risk heterogeneity among focal epilepsies. Epilepsia, 61 (11). S. E179 - 7. HOBOKEN: WILEY. ISSN 1528-1167

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

Kelly, McKenna, Park, Meredith, Mihalek, Ivana, Rochtus, Anne, Gramm, Marie, Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Axeen, Erika Takle, Hung, Christina Y., Olson, Heather, Swanson, Lindsay, Anselm, Irina, Briere, Lauren C., High, Frances A., Sweetser, David A., Kayani, Saima, Snyder, Molly, Calvert, Sophie, Scheffer, Ingrid E., Yang, Edward, Waugh, Jeff L., Lal, Dennis, Bodamer, Olaf, Poduri, Annapurna, Adams, David R., Aday, Aaron, Alejandro, Mercedes E., Allard, Patrick, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Baker, Eva, Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F., Beggs, Alan H., Behnam, Babak, Bellen, Hugo J., Bernstein, Jonathan A., Bican, Anna, Bick, David P., Birch, Camille L., Bonner, Devon, Boone, Braden E., Bostwick, Bret L., Brokamp, Elly, Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Chen, Shan, Clark, Gary D., Coakley, Terra R., Cogan, Joy D., Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., D'Souza, Precilla, Davids, Mariska, Davidson, Jean M., Dayal, Jyoti G., Dell'Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Dorset, Daniel C., Douine, Emilie D., Draper, David D., Dries, Annika M., Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Enns, Gre-Gory M., Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, Fairbrother, Laura, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Friedman, Noah D., Gahl, William A., Glanton, Emily, Godfrey, Rena A., Goldman, Alica M., Goldstein, David B., Gould, Sarah E., Gourdine, Jean-Philippe F., Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., High, Francis, Holm, Ingrid A., Horn, Jason, Howerton, Ellen M., Huang, Yong, Jamal, Fariha, Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Karaviti, Lefkothea, Koeller, David M., Kohane, Isaac S., Kohler, Jennefer N., Konick, Susan, Koziura, Mary, Krasnewich, Donna M., Krier, Joel B., Kyle, Jennifer E., Lalani, Seema R., Lau, C. Christopher, Lazar, Jozef, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levy, Shawn E., Lewis, Richard A., Lincoln, Sharyn A., Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majch-erska, Marta M., Malicdan, May Christine, V, Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, Martin, Martin G., Martinez-Agosto, Julian A., Mar-waha, Shruti, May, Thomas, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa F., Merker, Jason D., Metz, Thomas O., Might, Matthew, Moretti, Paolo M., Morimoto, Marie, Mulvihill, John J., Murdock, David R., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Nelson, Stan F., Newberry, J. Scott, Newman, John H., Nicholas, Sarah K., Novacic, Donna, Orange, Jordan S., Orengo, James P., Pallais, J. Carl, Palmer, Christina G. S., Papp, Jeanette C., Parker, Neil H., Pena, Loren D. M., Phillips, John A., III, Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Pusey, Barbara N., Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Sampson, Jacinda B., Samson, Susan L., Schoch, Kelly, Scott, Daryl A., Shakachite, Lisa, Sharma, Prashant, Shashi, Vandana, Signer, Rebecca, Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Tan, Queenie K-G, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Vilain, Eric, Vogel, Tiphanie P., Waggott, Daryl M., Wahl, Colleen E., Walker, Melissa, Walley, Nicole M., Walsh, Chris A., Wan, Jijun, Wangler, Michael F., Ward, Patricia A., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Westerfield, Monte, Wheeler, Matthew T., Wise, Anastasia L., Wolfe, Lynne A., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, Yaping, Yoon, Amanda J., Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli and Zheng, Allison (2019). Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. Epilepsia, 60 (3). S. 406 - 419. HOBOKEN: WILEY. ISSN 1528-1167

Lal, Dennis, May, Patrick ORCID: 0000-0001-8698-3770, Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Samocha, Kaitlin E., Kosmicki, Jack A., Robinson, Elise B., Moller, Rikke S., Krause, Roland, Nuernberg, Peter, Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, De Jonghe, Peter, Guerrini, Renzo ORCID: 0000-0002-7272-7079, Niestroj, Lisa M., Du, Juliana, Marini, Carla, Ware, James S., Kurki, Mitja, Gormley, Padhraig, Tang, Sha, Wu, Sitao, Biskup, Saskia, Poduri, Annapurna, Neubauer, Bernd A., Koeleman, Bobby P. C., Helbig, Katherine L., Weber, Yvonne G., Helbig, Ingo, Majithia, Amit R., Palotie, Aarno and Daly, Mark J. (2020). Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders. Genome Med., 12 (1). LONDON: BMC. ISSN 1756-994X

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

Lopez-Rivera, Javier A., Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Symonds, Joseph ORCID: 0000-0002-2141-4216, Lindy, Amanda S., McKnight, Dianalee A., Leu, Costin, Zuberi, Sameer, Brunklaus, Andreas, Moller, Rikke S. and Lal, Dennis (2020). A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants. Brain, 143. S. 1099 - 1106. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Lopez-Rivera, Javier A. A., Smuk, Victoria, Leu, Costin, Nasr, Gaelle, Vegh, Deborah, Stefanski, Arthur, Perez-Palma, Eduardo, Busch, Robyn, Jehi, Lara, Najm, Imad, Bluemcke, Ingmar and Lal, Dennis (2022). Incidence and prevalence of major epilepsy-associated brain lesions. Epilepsy Behav. Rep., 18. NEW YORK: ELSEVIER SCIENCE INC. ISSN 2589-9864

Macnee, Marie, Perez-Palma, Eduardo, Lopez-Rivera, Javier A., Ivaniuk, Alina ORCID: 0000-0001-9912-3112, May, Patrick ORCID: 0000-0001-8698-3770, Moller, Rikke S. ORCID: 0000-0002-9664-1448 and Lal, Dennis (2023). Data-driven historical characterization of epilepsy-associated genes. Eur. J. Paediatr. Neurol., 42. S. 82 - 88. OXFORD: ELSEVIER SCI LTD. ISSN 1532-2130

Macnee, Marie, Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Schumacher-Bass, Sarah, Dalton, Jarrod, Leu, Costin, Blankenberg, Daniel ORCID: 0000-0002-6833-9049 and Lal, Dennis (2021). SimText: a text mining framework for interactive analysis and visualization of similarities among biomedical entities. Bioinformatics, 37 (22). S. 4285 - 4288. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2059

Maljevic, Snezana ORCID: 0000-0003-1876-5872, Moller, Rikke S., Reid, Christopher A., Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Lal, Dennis, May, Patrick ORCID: 0000-0001-8698-3770 and Lerche, Holger (2019). Spectrum of GABA(A) receptor variants in epilepsy. Curr. Opin. Neurol., 32 (2). S. 183 - 191. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1473-6551

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, Bustos, Bernabe, I, Lal, Dennis, Buch, Stephan, Azocar, Lorena, Toliat, Mohammad Reza, Lieb, Wolfgang, Franke, Andre, Hinz, Sebastian, Burmeister, Greta, von Shoenfels, Witigo, Schafmayer, Clemens, Ahnert, Peter ORCID: 0000-0002-1771-0856, Voelzke, Henry, Voelker, Uwe, Homuth, Georg, Lerch, Markus M. ORCID: 0000-0002-9643-8263, Puschel, Klaus, Gutierrez, Rodrigo A., Hampe, Jochen ORCID: 0000-0002-2421-6127, Nuernberg, Peter, Miquel, Juan Francisco and De Ferrari, Giancarlo, V (2020). Copy number variants in lipid metabolism genes are associated with gallstones disease in men. Eur. J. Hum. Genet., 28 (2). S. 264 - 274. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Gramm, Marie, Nuernberg, Peter, May, Patrick ORCID: 0000-0001-8698-3770 and Lal, Dennis (2019). Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database. Nucleic Acids Res., 47 (W1). S. W99 - 7. OXFORD: OXFORD UNIV PRESS. ISSN 1362-4962

Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Helbig, Ingo ORCID: 0000-0001-8486-0558, Klein, Karl Martin ORCID: 0000-0002-6654-1665, Anttila, Verneri, Horn, Heiko, Reinthaler, Eva Maria, Gormley, Padhraig ORCID: 0000-0002-8908-6968, Ganna, Andrea ORCID: 0000-0002-8147-240X, Byrnes, Andrea, Pernhorst, Katharina, Toliat, Mohammad R., Saarentaus, Elmo ORCID: 0000-0002-8475-7187, Howrigan, Daniel P., Hoffman, Per, Miquel, Juan Francisco, De Ferrari, Giancarlo V., Nuernberg, Peter, Lerche, Holger, Zimprich, Fritz ORCID: 0000-0002-6998-5480, Neubauer, Bern A., Becker, Albert J., Rosenow, Felix, Perucca, Emilio, Zara, Federico ORCID: 0000-0001-9744-5222, Weber, Yvonne G. and Lal, Dennis (2017). Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies. J. Med. Genet., 54 (9). S. 598 - 607. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

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

Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Saarentaus, Elmo ORCID: 0000-0002-8475-7187, Ravoet, Marie, De Ferrari, Giancarlo V., Nuernberg, Peter, Isidor, Bertrand, Neubauer, Bernd A. and Lal, Dennis (2018). Duplications at 19q13.33 in patients with neurodevelopmental disorders. Neurol.-Genet., 4 (1). PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 2376-7839

Rochtus, Anne M., Goldstein, Richard D., Holm, Ingrid A., Brownstein, Catherine A., Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Haynes, Robin, Lal, Dennis and Poduri, Annapurna H. (2020). The role of sodium channels in sudden unexpected death in pediatrics. Mol. Genet. Genom. Med., 8 (8). HOBOKEN: WILEY. ISSN 2324-9269

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

Stefanski, Arthur, Calle-Lopez, Yamile ORCID: 0000-0002-7805-9200, Leu, Costin, Perez-Palma, Eduardo, Pestana-Knight, Elia and Lal, Dennis . Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta-analysis. Epilepsia. HOBOKEN: WILEY. ISSN 1528-1167

Stefanski, Arthur, Perez-Palma, Eduardo, Mrdjen, Marko, McHugh, Megan, Leu, Costin and Lal, Dennis (2022). BRIEF REPORT Identification and quantification of oligogenic loss-of-function disorders. Genet. Med., 24 (3). S. 729 - 736. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1530-0366

Vidal, Elena A., Moyano, Tomas C., Bustos, Bernabe, I, Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Moraga, Carol, Riveras, Eleodoro, Montecinos, Alejandro, Azocar, Lorena, Soto, Daniela C., Vidal, Mabel, Di Genoval, Alex, Puschel, Klaus, Nurnberg, Peter, Buch, Stephan, Hampe, Jochen ORCID: 0000-0002-2421-6127, Allende, Miguel L., Cambiazo, Veronica, Gonzalez, Mauricio, Hodar, Christian ORCID: 0000-0001-8617-7998, Montecino, Martin, Munoz-Espinoza, Claudia, Orellana, Ariel ORCID: 0000-0002-9243-808X, Reyes-Jara, Angelica ORCID: 0000-0002-5354-4322, Travisanyl, Dante, Vizoso, Paula, Moraga, Mauricio, Eyheramendy, Susana, Maass, Alejandro ORCID: 0000-0002-7038-4527, De Ferrari, Giancarlo, V, Mique, Juan Francisco and Gutierrez, Rodrigo A. (2019). Whole Genome Sequence, Variant Discovery and Annotation in Mapuche-Huilliche Native South Americans. Sci Rep, 9. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322