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C. Hertzberg · SciRah

Researcher profile · Semantic Scholar

C. Hertzberg

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C. Hertzberg — researcher profile on SciRah

h-index: 32
Works: 80
Citations: 4,224

Most-cited papers

Deep sequencing reveals 50 novel genes for recessive cognitive disorders
H. Najmabadi, Hao Hu, M. Garshasbi, T. Żemojtel +41 more
2011Nature966 citations
Semantic Scholar
TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients
J. Kingswood, G. B. d'Augères, E. Belousova, J. Ferreira +25 more
2017Orphanet Journal of Rare Diseases241 citations Open access
Semantic Scholar
Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial
K. Kotulska, D. Kwiatkowski, P. Curatolo, Bernhard Weschke +75 more
2020Annals of Neurology238 citations Open access
Semantic Scholar
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
G. Ramantani, J. Kohlhase, C. Hertzberg, A. Innes +22 more
2010Arthritis & Rheumatism216 citations
Semantic Scholar
Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study
R. Nabbout, E. Belousova, M. Benedik, T. Carter +25 more
2018Epilepsia Open199 citations Open access
Semantic Scholar
Management of epilepsy associated with tuberous sclerosis complex: Updated clinical recommendations.
P. Curatolo, R. Nabbout, L. Lagae, E. Aronica +11 more
2018European journal of paediatric neurology176 citations
Semantic Scholar
TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study
P. D. de Vries, E. Belousova, M. Benedik, T. Carter +190 more
2018Orphanet Journal of Rare Diseases151 citations Open access
Semantic Scholar
Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively.
J. Klepper, H. Scheffer, B. Leiendecker, E. Gertsen +6 more
2005Neuropediatrics141 citations
Semantic Scholar
A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC)
J. Zöllner, D. Franz, C. Hertzberg, R. Nabbout +5 more
2020Orphanet Journal of Rare Diseases114 citations Open access
Semantic Scholar
Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness
J. Kingswood, E. Belousova, M. Benedik, T. Carter +25 more
2018Nephrology, Dialysis and Transplantation87 citations Open access
Semantic Scholar
TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study
B. Ogorek, L. Hamieh, H. Hulshof, Kathryn D. Lasseter +26 more
2020Genetics in Medicine86 citations Open access
Semantic Scholar
TOSCA – first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex
J. Kingswood, P. Bruzzi, P. Curatolo, P. D. de Vries +24 more
2014Orphanet Journal of Rare Diseases76 citations Open access
Semantic Scholar
The Role of mTOR Inhibitors in the Treatment of Patients with Tuberous Sclerosis Complex: Evidence-based and Expert Opinions
P. Curatolo, M. Bjørnvold, P. Dill, J. Ferreira +10 more
2016Drugs75 citations
Semantic Scholar
Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study
R. Moavero, A. Benvenuto, Leonardo Emberti Gialloreti, M. Siracusano +20 more
2019Journal of Clinical Medicine66 citations Open access
Semantic Scholar
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots
A. Kuss, M. Garshasbi, K. Kahrizi, A. Tzschach +26 more
2011Human Genetics60 citations
Semantic Scholar
Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings.
M. Spielmann, Gabriele Reichelt, C. Hertzberg, Marc Trimborn +3 more
2011European Journal of Medical Genetics54 citations
Semantic Scholar
Renal Manifestations of Tuberous Sclerosis Complex: Key Findings From the Final Analysis of the TOSCA Study Focussing Mainly on Renal Angiomyolipomas
J. Kingswood, E. Belousova, M. Benedik, T. Carter +25 more
2020Frontiers in Neurology52 citations Open access
Semantic Scholar
Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease.
A. E. Würde, J. Reunert, S. Rust, C. Hertzberg +6 more
2012Molecular Genetics and Metabolism51 citations
Semantic Scholar
Location and type of mutation in the LIS1 gene do not predict phenotypic severity
G. Uyanik, D. Morris-Rosendahl, J. Stiegler, J. Klapecki +33 more
2007Neurology49 citations
Semantic Scholar
Real‐world data on cannabidiol treatment of various epilepsy subtypes: A retrospective, multicenter study
Fabienne Kühne, L. Becker, T. Bast, A. Bertsche +28 more
2023Epilepsia Open48 citations Open access
Semantic Scholar
Burden of Illness and Quality of Life in Tuberous Sclerosis Complex: Findings From the TOSCA Study
A. Jansen, S. Vanclooster, P. D. de Vries, C. Fladrowski +26 more
2020Frontiers in Neurology43 citations Open access
Semantic Scholar
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
F. Pelletier, S. Perrier, F. Cayami, A. Mirchi +115 more
2020Journal of Clinical Endocrinology and Metabolism43 citations Open access
Semantic Scholar
Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex
A. Jansen, E. Belousova, M. Benedik, T. Carter +25 more
2019Frontiers in Neurology42 citations Open access
Semantic Scholar
Early epileptiform EEG activity in infants with tuberous sclerosis complex predicts epilepsy and neurodevelopmental outcomes
J. De Ridder, B. Verhelle, J. Vervisch, K. Lemmens +21 more
2021Epilepsia40 citations Open access
Semantic Scholar
Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Sex, and Genotype in Relation to Intellectual Phenotype
P. D. de Vries, E. Belousova, M. Benedik, T. Carter +25 more
2020Frontiers in Neurology37 citations
Semantic Scholar
Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)
M. Sauter, E. Belousova, M. Benedik, T. Carter +189 more
2021Orphanet Journal of Rare Diseases36 citations Open access
Semantic Scholar
Is autism driven by epilepsy in infants with Tuberous Sclerosis Complex?
R. Moavero, K. Kotulska, L. Lagae, A. Benvenuto +19 more
2020Annals of Clinical and Translational Neurology35 citations Open access
Semantic Scholar
Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project
P. D. de Vries, E. Belousova, M. Benedik, T. Carter +189 more
2020Journal of Neurodevelopmental Disorders35 citations Open access
Semantic Scholar
Four unrelated patients with lubs X‐linked mental retardation syndrome and different Xq28 duplications
O. Bartsch, K. Gebauer, S. Lechno, H. Van Esch +9 more
2010American Journal of Medical Genetics. Part A35 citations
Semantic Scholar
Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry
R. Nabbout, E. Belousova, M. Benedik, T. Carter +24 more
2021Frontiers in Neurology33 citations Open access
Semantic Scholar
Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene
H. Girschick, C. Wolf, H. Morbach, C. Hertzberg +1 more
2015Pediatric Rheumatology Online Journal33 citations Open access
Semantic Scholar
Prediction of Neurodevelopment in Infants With Tuberous Sclerosis Complex Using Early EEG Characteristics
J. De Ridder, M. Lavanga, B. Verhelle, J. Vervisch +23 more
2020Frontiers in Neurology31 citations Open access
Semantic Scholar
Successful Prenatal Treatment of Cardiac Rhabdomyoma in a Fetus with Tuberous Sclerosis
J. Will, N. Siedentopf, O. Schmid, Theresa M. Gruber +3 more
2023Pediatric Reports29 citations Open access
Semantic Scholar
Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study
A. Jansen, E. Belousova, M. Benedik, T. Carter +24 more
2019Frontiers in Neurology29 citations Open access
Semantic Scholar
Quality of life and its predictors in adults with tuberous sclerosis complex (TSC): a multicentre cohort study from Germany
J. Zöllner, N. Conradi, M. Sauter, M. Knuf +20 more
2021Neurological Research and Practice25 citations Open access
Semantic Scholar
WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk
Karen L. Oliver, M. Trivisano, S. Mandelstam, Angela de Dominicis +19 more
2023Epilepsia23 citations Open access
Semantic Scholar
Association of Early MRI Characteristics With Subsequent Epilepsy and Neurodevelopmental Outcomes in Children With Tuberous Sclerosis Complex
H. Hulshof, H. Kuijf, K. Kotulska, P. Curatolo +21 more
2022Neurology21 citations Open access
Semantic Scholar
Health-related quality of life in children and adolescents with tuberous sclerosis complex and their caregivers: A multicentre cohort study from Germany.
L. Willems, S. Schubert-Bast, J. Grau, C. Hertzberg +32 more
2021European journal of paediatric neurology21 citations
Semantic Scholar
Epilepsy in Aicardi-Goutières syndrome.
G. Ramantani, L. Maillard, T. Bast, Ralf A. Husain +16 more
2014European journal of paediatric neurology21 citations
Semantic Scholar
Efficacy, Retention and Tolerability of Everolimus in Patients with Tuberous Sclerosis Complex: A Survey-Based Study on Patients’ Perspectives
L. Willems, F. Rosenow, S. Schubert-Bast, G. Kurlemann +34 more
2021CNS Drugs20 citations Open access
Semantic Scholar
Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study
J. Grau, J. Zöllner, S. Schubert-Bast, G. Kurlemann +32 more
2021Orphanet Journal of Rare Diseases20 citations Open access
Semantic Scholar
Vorinostat in the acute neuroinflammatory form of X‐linked adrenoleukodystrophy
B. Zierfuss, I. Weinhofer, J. Kühl, Wolfgang Köhler +14 more
2020Annals of Clinical and Translational Neurology19 citations Open access
Semantic Scholar
Direct and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literature
J. Zöllner, J. Grau, F. Rosenow, M. Sauter +18 more
2021Orphanet Journal of Rare Diseases18 citations Open access
Semantic Scholar
TuberOus SClerosis registry to increAse disease awareness (TOSCA) Post-Authorisation Safety Study of Everolimus in Patients With Tuberous Sclerosis Complex
J. Kingswood, E. Belousova, M. Benedik, K. Budde +26 more
2021Frontiers in Neurology18 citations Open access
Semantic Scholar
Prescription patterns of antiseizure drugs in tuberous sclerosis complex (TSC)-associated epilepsy: a multicenter cohort study from Germany and review of the literature
A. Strzelczyk, J. Grau, T. Bast, A. Bertsche +31 more
2021Expert Review of Clinical Pharmacology17 citations
Semantic Scholar
Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized, observer-blind, controlled phase IIb national multicentre clinical trial: study protocol
J. Driedger, Julian Schröter, C. Hertzberg, B. Weschke +36 more
2025Orphanet Journal of Rare Diseases14 citations Open access
Semantic Scholar
miRNAs and isomiRs: Serum-Based Biomarkers for the Development of Intellectual Disability and Autism Spectrum Disorder in Tuberous Sclerosis Complex
Mirte Scheper, Alessia Romagnolo, Z. M. Besharat, A. Iyer +25 more
2022Biomedicines14 citations Open access
Semantic Scholar
Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry
R. Marques, E. Belousova, M. Benedik, T. Carter +25 more
2019Frontiers in Neurology14 citations Open access
Semantic Scholar
Congenital Ichthyosis in Severe Type II Gaucher Disease with a Homozygous Null Mutation
S. Haverkaemper, T. Marquardt, I. Hausser, Katharina Timme +3 more
2011Neonatology12 citations
Semantic Scholar
Molecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two years
Franz Huschner, Jagoda Głowacka-Walas, J. Mills, K. Klonowska +37 more
2023Nature Communications11 citations Open access
Semantic Scholar

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