Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database

由 Pérez-Palma, Eduardo, Gramm, Marie, Nürnberg, Peter, May, Patrick, Lal, Dennis
發表在 Nucleic Acids Res (2019)

ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum

由 Salles, Philippe A., Mata, Ignacio F., Brünger, Tobias, Lal, Dennis, Fernandez, Hubert H.
發表在 Front Neurol (2021)

Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta‐analysis

由 Stefanski, Arthur, Calle‐López, Yamile, Leu, Costin, Pérez‐Palma, Eduardo, Pestana‐Knight, Elia, Lal, Dennis
發表在 Epilepsia (2020)

Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations

由 Yehia, Lamis, Seyfi, Marilyn, Niestroj, Lisa-Marie, Padmanabhan, Roshan, Ni, Ying, Frazier, Thomas W., Lal, Dennis, Eng, Charis
發表在 JAMA Netw Open (2020)

KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood

由 Myers, Kenneth A., McGlade, Amelia, Neubauer, Bernd A., Lal, Dennis, Berkovic, Samuel F., Scheffer, Ingrid E., Hildebrand, Michael S.
發表在 PLoS One (2018)

Duplications at 19q13.33 in patients with neurodevelopmental disorders

由 Pérez-Palma, Eduardo, Saarentaus, Elmo, Ravoet, Marie, De Ferrari, Giancarlo V., Nürnberg, Peter, Isidor, Bertrand, Neubauer, Bernd A., Lal, Dennis
發表在 Neurol Genet (2018)

Altered Relationship between Soluble TREM2 and Inflammatory Markers in Young Adults with Down Syndrome: A Preliminary Report

由 Weber, Grace E., Koenig, Katherine, Khrestian, Maria, Shao, Yvonne, Tuason, Elizabeth D., Gramm, Marie, Lal, Dennis, Leverenz, James B., Bekris, Lynn M.
發表在 J Immunol (2020)

The role of sodium channels in sudden unexpected death in pediatrics

由 Rochtus, Anne M., Goldstein, Richard D., Holm, Ingrid A., Brownstein, Catherine A., Pérez‐Palma, Eduardo, Haynes, Robin, Lal, Dennis, Poduri, Annapurna H.
發表在 Mol Genet Genomic Med (2020)

Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing

由 Lal, Dennis, Neubauer, Bernd A., Toliat, Mohammad R., Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Kamrath, Clemens, Schänzer, Anne, Sander, Thomas, Hahn, Andreas, Nothnagel, Michael
發表在 PLoS One (2016)

Pleiotropy of polygenic factors associated with focal and generalized epilepsy in the general population

由 Leu, Costin, Richardson, Tom G., Kaufmann, Tobias, van der Meer, Dennis, Andreassen, Ole A., Westlye, Lars T., Busch, Robyn M., Davey Smith, George, Lal, Dennis
發表在 PLoS One (2020)

A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants

由 López-Rivera, Javier A, Pérez-Palma, Eduardo, Symonds, Joseph, Lindy, Amanda S, McKnight, Dianalee A, Leu, Costin, Zuberi, Sameer, Brunklaus, Andreas, Møller, Rikke S, Lal, Dennis
發表在 Brain (2020)

Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder: clinical review

由 Olson, Heather E., Demarest, Scott T., Pestana-Knight, Elia M., Swanson, Lindsay C., Iqbal, Sumaiya, Lal, Dennis, Leonard, Helen, Cross, J. Helen, Devinsky, Orrin, Benke, Tim A.
發表在 Pediatr Neurol (2019)

Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects

由 Niestroj, Lisa-Marie, Perez-Palma, Eduardo, Howrigan, Daniel P, Zhou, Yadi, Cheng, Feixiong, Saarentaus, Elmo, Nürnberg, Peter, Stevelink, Remi, Daly, Mark J, Palotie, Aarno, Lal, Dennis
發表在 Brain (2020)

Neurological disorder-associated genetic variants in individuals with psychogenic nonepileptic seizures

由 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., Lal, Dennis
發表在 Sci Rep (2020)

RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy

由 Lal, Dennis, Reinthaler, Eva M., Altmüller, Janine, Toliat, Mohammad R., Thiele, Holger, Nürnberg, Peter, Lerche, Holger, Hahn, Andreas, Møller, Rikke S., Muhle, Hiltrud, Sander, Thomas, Zimprich, Fritz, Neubauer, Bernd A.
出版 2013

Correction: RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy

由 Lal, Dennis, Reinthaler, Eva M., Altmüller, Janine, Toliat, Mohammad R., Thiele, Holger, Nürnberg, Peter, Lerche, Holger, Hahn, Andreas, Møller, Rikke S., Muhle, Hiltrud, Sander, Thomas, Zimprich, Fritz, Neubauer, Bernd A.
出版 2013

Identification of pathogenic variant enriched regions across genes and gene families

由 Pérez-Palma, Eduardo, May, Patrick, Iqbal, Sumaiya, Niestroj, Lisa-Marie, Du, Juanjiangmeng, Heyne, Henrike O., Castrillon, Jessica A., O'Donnell-Luria, Anne, Nürnberg, Peter, Palotie, Aarno, Daly, Mark, Lal, Dennis
發表在 Genome Res (2020)

Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy

由 Bobbili, Dheeraj R., Lal, Dennis, May, Patrick, Reinthaler, Eva M., Jabbari, Kamel, Thiele, Holger, Nothnagel, Michael, Jurkowski, Wiktor, Feucht, Martha, Nürnberg, Peter, Lerche, Holger, Zimprich, Fritz, Krause, Roland, Neubauer, Bernd A., Reinthaler, Eva M., Zimprich, Fritz, Feucht, Martha, Steinböck, Hannelore, Neophytou, Birgit, Geldner, Julia, Gruber-Sedlmayr, Ursula, Haberlandt, Edda, Ronen, Gabriel M., Altmüller, Janine, Lal, Dennis, Nürnberg, Peter, Sander, Thomas, Thiele, Holger, Krause, Roland, May, Patrick, Balling, Rudi, Lerche, Holger, Neubauer, Bernd A.
發表在 Eur J Hum Genet (2018)

CDKL5 Deficiency Disorder: Relationship between genotype, epilepsy, cortical visual impairment and development.

由 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, Lal, Dennis, Juarez-Colunga, Elizabeth, Benke, Tim A.
發表在 Epilepsia (2019)

MISCAST: MIssense variant to protein StruCture Analysis web SuiTe

由 Iqbal, Sumaiya, Hoksza, David, Pérez-Palma, Eduardo, May, Patrick, 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, Lal, Dennis
發表在 Nucleic Acids Res (2020)