Application of single cell genomics to focal epilepsies: A call to action

por Khoshkhoo, Sattar, Lal, Dennis, Walsh, Christopher A.
Publicado 2021

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

por Pérez-Palma, Eduardo, Gramm, Marie, Nürnberg, Peter, May, Patrick, Lal, Dennis
Publicado 2019

ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum

por Salles, Philippe A., Mata, Ignacio F., Brünger, Tobias, Lal, Dennis, Fernandez, Hubert H.
Publicado 2021

DDGun: an untrained predictor of protein stability changes upon amino acid variants

por Montanucci, Ludovica, Capriotti, Emidio, Birolo, Giovanni, Benevenuta, Silvia, Pancotti, Corrado, Lal, Dennis, Fariselli, Piero
Publicado 2022

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

por Stefanski, Arthur, Calle‐López, Yamile, Leu, Costin, Pérez‐Palma, Eduardo, Pestana‐Knight, Elia, Lal, Dennis
Publicado 2020

SimText: a text mining framework for interactive analysis and visualization of similarities among biomedical entities

por Macnee, Marie, Pérez-Palma, Eduardo, Schumacher-Bass, Sarah, Dalton, Jarrod, Leu, Costin, Blankenberg, Daniel, Lal, Dennis
Publicado 2021

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

por Yehia, Lamis, Seyfi, Marilyn, Niestroj, Lisa-Marie, Padmanabhan, Roshan, Ni, Ying, Frazier, Thomas W., Lal, Dennis, Eng, Charis
Publicado 2020

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

por Myers, Kenneth A., McGlade, Amelia, Neubauer, Bernd A., Lal, Dennis, Berkovic, Samuel F., Scheffer, Ingrid E., Hildebrand, Michael S.
Publicado 2018

Duplications at 19q13.33 in patients with neurodevelopmental disorders

por Pérez-Palma, Eduardo, Saarentaus, Elmo, Ravoet, Marie, De Ferrari, Giancarlo V., Nürnberg, Peter, Isidor, Bertrand, Neubauer, Bernd A., Lal, Dennis
Publicado 2018

The role of sodium channels in sudden unexpected death in pediatrics

por Rochtus, Anne M., Goldstein, Richard D., Holm, Ingrid A., Brownstein, Catherine A., Pérez‐Palma, Eduardo, Haynes, Robin, Lal, Dennis, Poduri, Annapurna H.
Publicado 2020

Delineation of functionally essential protein regions for 242 neurodevelopmental genes

por Iqbal, Sumaiya, Brünger, Tobias, Pérez-Palma, Eduardo, Macnee, Marie, Brunklaus, Andreas, Daly, Mark J, Campbell, Arthur J, Hoksza, David, May, Patrick, Lal, Dennis
Publicado 2022

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

por Lal, Dennis, Neubauer, Bernd A., Toliat, Mohammad R., Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Kamrath, Clemens, Schänzer, Anne, Sander, Thomas, Hahn, Andreas, Nothnagel, Michael
Publicado 2016

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

por 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
Publicado 2020

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

por 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
Publicado 2020

Gene variant effects across sodium channelopathies predict function and guide precision therapy

por Brunklaus, Andreas, Feng, Tony, Brünger, Tobias, Perez-Palma, Eduardo, Heyne, Henrike, Matthews, Emma, Semsarian, Christopher, Symonds, Joseph D, Zuberi, Sameer M, Lal, Dennis, Schorge, Stephanie
Publicado 2022

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

por 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
Publicado 2020

Incidence and prevalence of major epilepsy-associated brain lesions

por López-Rivera, Javier A., Smuk, Victoria, Leu, Costin, Nasr, Gaelle, Vegh, Deborah, Stefanski, Arthur, Pérez-Palma, Eduardo, Busch, Robyn, Jehi, Lara, Najm, Imad, Blümcke, Ingmar, Lal, Dennis
Publicado 2022

RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy

por 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.
Publicado 2013

Correction: RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy

por 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.
Publicado 2013

Genetic and molecular features of seizure-freedom following surgical resections for focal epilepsy: A pilot study

por Louis, Shreya, Busch, Robyn M., Lal, Dennis, Hockings, Jennifer, Hogue, Olivia, Morita-Sherman, Marcia, Vegh, Deborah, Najm, Imad, Ghosh, Chaitali, Bazeley, Peter, Eng, Charis, Jehi, Lara, Rotroff, Daniel M.
Publicado 2022