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C. Leu · SciRah

Researcher profile · Semantic Scholar

C. Leu

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C. Leu — researcher profile on SciRah

h-index: 37
Works: 108
Citations: 6,981

Most-cited papers

Analysis of shared heritability in common disorders of the brain
V. Anttila, B. Bulik-Sullivan, H. Finucane, R. Walters +496 more
2018Science1,869 citations Open access
Semantic Scholar
Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies
B. Abou-Khalil, P. Auce, Andreja Avbersek, M. Bahlo +155 more
2018Nature Communications398 citations Open access
Semantic Scholar
Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals
Y. Feng, D. Howrigan, L. Abbott, K. Tashman +236 more
2019bioRxiv268 citations Open access
Semantic Scholar
Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies
Richard Anney, Andreja Avbersek, D. J. Balding, L. Baum +108 more
2014Lancet Neurology250 citations Open access
Semantic Scholar
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A
D. Kasperavičiūtė, C. Catarino, M. Matarin, C. Leu +67 more
2013Brain : a journal of neurology204 citations Open access
Semantic Scholar
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture
R. Stevelink, C. Campbell, Si-Wei Chen, B. Abou-Khalil +315 more
2023Nature Genetics198 citations Open access
Semantic Scholar
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.
M. Steffens, C. Leu, Ann-Kathrin Ruppert, F. Zara +86 more
2012Human Molecular Genetics159 citations Open access
Semantic Scholar
Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta‐analysis
A. Stefanski, Y. Calle-López, C. Leu, E. Pérez-Palma +2 more
2020medRxiv156 citations Open access
Semantic Scholar
Polygenic burden in focal and generalized epilepsies
C. Leu, R. Stevelink, Alexander W Smith, S. Goleva +16 more
2019Brain : a journal of neurology137 citations Open access
Semantic Scholar
CHD2 variants are a risk factor for photosensitivity in epilepsy
E. Galizia, Candace T. Myers, C. Leu, C. de Kovel +43 more
2015Brain : a journal of neurology136 citations Open access
Semantic Scholar
A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants
J. A. López-Rivera, E. Pérez-Palma, J. Symonds, Amanda Lindy +6 more
2020Brain : a journal of neurology132 citations Open access
Semantic Scholar
Diagnostic implications of genetic copy number variation in epilepsy plus
A. Coppola, E. Cellini, H. Stamberger, E. Saarentaus +72 more
2019Epilepsia89 citations Open access
Semantic Scholar
GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy
P. Striano, Y. Weber, M. Toliat, Julian Schubert +15 more
2012Neurology89 citations
Semantic Scholar
Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy
C. Leu, S. Balestrini, B. Maher, L. Hernández-Hernández +28 more
2015EBioMedicine86 citations Open access
Semantic Scholar
Pitfalls in genetic testing: the story of missed SCN1A mutations
T. Djémié, S. Weckhuysen, S. von Spiczak, G. Carvill +42 more
2016Molecular Genetics & Genomic Medicine82 citations Open access
Semantic Scholar
Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study.
P. May, S. Girard, Merle Harrer, D. Bobbili +121 more
2018Lancet Neurology72 citations Open access
Semantic Scholar
Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study
R. Männikkö, L. Wong, D. Tester, M. Thor +17 more
2018The Lancet71 citations Open access
Semantic Scholar
Carbamazepine‐ and oxcarbazepine‐induced hyponatremia in people with epilepsy
B. Berghuis, J. van der Palen, G. de Haan, D. Lindhout +45 more
2017Epilepsia69 citations Open access
Semantic Scholar
The genomic landscape across 474 surgically accessible epileptogenic human brain lesions
J. A. López-Rivera, C. Leu, Marie Macnee, J. Khoury +23 more
2022medRxiv68 citations Open access
Semantic Scholar
Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy
Dennis Lal, H. Trucks, R. Møller, H. Hjalgrim +17 more
2013Epilepsia66 citations
Semantic Scholar
Effects of copy number variations on brain structure and risk for psychiatric illness: Large‐scale studies from the ENIGMA working groups on CNVs
I. Sønderby, C. Ching, S. Thomopoulos, Dennis Meer +152 more
2021Human Brain Mapping61 citations Open access
Semantic Scholar
SSBP1 mutations in dominant optic atrophy with variable retinal degeneration
Neringa Jurkute, C. Leu, Hans-Martin Pogoda, G. Arno +15 more
2019Annals of Neurology58 citations Open access
Semantic Scholar
Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia
I. Sønderby, Ó. Gústafsson, N. T. Doan, D. Hibar +149 more
2018Molecular Psychiatry58 citations Open access
Semantic Scholar
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.
Joshua E. Motelow, G. Povysil, R. Dhindsa, Kate E. Stanley +251 more
2021American Journal of Human Genetics53 citations Open access
Semantic Scholar
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
Si-Wei Chen, B. Abou-Khalil, Z. Afawi, Q. Z. Ali +332 more
2024Nature Neuroscience50 citations Open access
Semantic Scholar
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals
L. Montanucci, D. Lewis-Smith, Ryan L. Collins, Lisa-Marie Niestroj +10 more
2023Nature Communications49 citations Open access
Semantic Scholar
Are AI language models such as ChatGPT ready to improve the care of individuals with epilepsy?
C. Boßelmann, C. Leu, Dennis Lal
2023Epilepsia48 citations Open access
Semantic Scholar
A systems-level analysis highlights microglial activation as a modifying factor in common epilepsies
A. Altmann, Mina Ryten, M. Di Nunzio, T. Ravizza +96 more
2021Neuropathology and Applied Neurobiology48 citations Open access
Semantic Scholar
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
Si-Wei Chen, B. Abou-Khalil, Z. Afawi, Q. Z. Ali +332 more
2023medRxiv44 citations Open access
Semantic Scholar
The role of common genetic variation in presumed monogenic epilepsies
C. Campbell, C. Leu, Y. Feng, S. Wolking +20 more
2022EBioMedicine42 citations Open access
Semantic Scholar
Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients
M. McCormack, H. Gui, A. Ingason, D. Speed +45 more
2017Neurology40 citations Open access
Semantic Scholar
Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery
Karen L. Oliver, C. Ellis, I. Scheffer, S. Ganesan +13 more
2022EBioMedicine39 citations Open access
Semantic Scholar
Genome‐wide linkage meta‐analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies
C. Leu, C. de Kovel, F. Zara, P. Striano +56 more
2012Epilepsia38 citations Open access
Semantic Scholar
1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans
I. Sønderby, D. van der Meer, C. Moreau, T. Kaufmann +140 more
2021Translational Psychiatry36 citations Open access
Semantic Scholar
Postictal Psychosis in Epilepsy: A Clinicogenetic Study
V. Braatz, Helena Martins Custodio, C. Leu, L. Agrò +16 more
2021Annals of Neurology30 citations Open access
Semantic Scholar
Feasible and Successful: Genome-Wide Interaction Analysis Involving All 1.9 × 1011 Pair-Wise Interaction Tests
M. Steffens, T. Becker, T. Sander, R. Fimmers +11 more
2010Human Heredity26 citations
Semantic Scholar
Pleiotropy of polygenic factors associated with focal and generalized epilepsy in the general population
C. Leu, T. Richardson, T. Kaufmann, D. van der Meer +5 more
2020PLoS ONE23 citations Open access
Semantic Scholar
Genetic variants in the bipolar disorder risk locus SYNE1 that affect CPG2 expression and protein function
Mette Rathje, Hannah K Waxman, Marc R. Benoit, Prasad Tammineni +3 more
2019Molecular Psychiatry23 citations Open access
Semantic Scholar
Analysis of 1386 epileptogenic brain lesions reveals association with DYRK1A and EGFR
C. Boßelmann, C. Leu, Tobias Brünger, L. Hoffmann +19 more
2024Nature Communications20 citations Open access
Semantic Scholar
Genome-wide association meta-analyses of drug-resistant epilepsy
C. Leu, Andreja Avbersek, R. Stevelink, H. M. Custodio +29 more
2025EBioMedicine19 citations Open access
Semantic Scholar
Ganglioglioma with adverse clinical outcome and atypical histopathological features were defined by alterations in PTPN11/KRAS/NF1 and other RAS-/MAP-Kinase pathway genes
L. Hoffmann, R. Coras, K. Kobow, J. A. López-Rivera +17 more
2023Acta Neuropathologica18 citations Open access
Semantic Scholar
Deep histopathology genotype–phenotype analysis of focal cortical dysplasia type II differentiates between the GATOR1-altered autophagocytic subtype IIa and MTOR-altered migration deficient subtype IIb
Jonas Honke, L. Hoffmann, R. Coras, K. Kobow +19 more
2023Acta Neuropathologica Communications18 citations Open access
Semantic Scholar
Incidence and prevalence of major epilepsy-associated brain lesions
J. A. López-Rivera, Victoria Smuk, C. Leu, G. Nasr +8 more
2022Epilepsy & Behavior Reports17 citations Open access
Semantic Scholar
Neurological disorder-associated genetic variants in individuals with psychogenic nonepileptic seizures
C. Leu, Jocelyn F. Bautista, M. Sudarsanam, Lisa-Marie Niestroj +7 more
2020Scientific Reports17 citations Open access
Semantic Scholar
Evaluating novel in silico tools for accurate pathogenicity classification in epilepsy‐associated genetic missense variants
L. Montanucci, Tobias Brünger, C. Boßelmann, A. Ivaniuk +4 more
2024Epilepsia16 citations Open access
Semantic Scholar
Progress from genome-wide association studies and copy number variant studies in epilepsy.
C. Leu, A. Coppola, S. Sisodiya
2016Current Opinion in Neurology16 citations
Semantic Scholar
Assessment of genetic variant burden in epilepsy-associated brain lesions
Lisa-Marie Niestroj, P. May, M. Artomov, K. Kobow +13 more
2019European Journal of Human Genetics14 citations Open access
Semantic Scholar
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing
A. Coppola, S. Krithika, M. Iacomino, D. Bobbili +31 more
2023Epilepsia13 citations Open access
Semantic Scholar
A systems-level analysis highlights microglial activation as a modifying factor in common forms of human epilepsy
A. Altmann, Mina Ryten, M. Di Nunzio, T. Ravizza +92 more
2018bioRxiv12 citations Open access
Semantic Scholar
ariants in KCNJ 11 and BAD do not predict response to ketogenic ietary therapies for epilepsy
N. Schoeler, C. Leu, Jon White, V. Plagnol +10 more
201512 citations
Semantic Scholar

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