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G. Korenke · SciRah

Researcher profile · Semantic Scholar

G. Korenke

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G. Korenke — researcher profile on SciRah

h-index: 38
Works: 145
Citations: 4,983

Most-cited papers

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
M. Wolff, K. Johannesen, U. Hedrich, S. Masnada +81 more
2017Brain : a journal of neurology533 citations Open access
Semantic Scholar
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
C. Dafinger, M. Liebau, S. Elsayed, Y. Hellenbroich +14 more
2011Journal of Clinical Investigation202 citations Open access
Semantic Scholar
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome
F. Kortüm, V. Caputo, C. Bauer, L. Stella +19 more
2015Nature Genetics193 citations Open access
Semantic Scholar
Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study.
M. Pineda, J. E. Wraith, E. Mengel, F. Sedel +9 more
2009Molecular Genetics and Metabolism188 citations Open access
Semantic Scholar
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy
C. Mignot, C. von Stülpnagel, C. Nava, D. Ville +40 more
2016Journal of Medical Genetics171 citations Open access
Semantic Scholar
CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with Hypomagnesemia
F. Arjona, J. de Baaij, Karl P. Schlingmann, A. Lameris +10 more
2014PLoS Genetics138 citations Open access
Semantic Scholar
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.
S. Stöckler-Ipsiroglu, C. van Karnebeek, N. Longo, G. Korenke +28 more
2014Molecular Genetics and Metabolism137 citations Open access
Semantic Scholar
SYNGAP1 encephalopathy
D. R. Vlaskamp, B. J. Shaw, R. Burgess, D. Mei +24 more
2018Neurology132 citations Open access
Semantic Scholar
A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT
M. Kvarnung, D. Nilsson, A. Lindstrand, G. Korenke +9 more
2013Journal of Medical Genetics130 citations
Semantic Scholar
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.
M. Corbett, M. Schwake, M. Bahlo, L. Dibbens +15 more
2011American Journal of Human Genetics112 citations Open access
Semantic Scholar
Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.
P. Huppke, C. Brendel, V. Kalscheuer, G. Korenke +16 more
2012American Journal of Human Genetics103 citations Open access
Semantic Scholar
Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study.
J. E. Wraith, Nathalie Guffon, Marianne Rohrbach, W. Hwu +5 more
2009Molecular Genetics and Metabolism96 citations Open access
Semantic Scholar
FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants
D. Mitter, M. Pringsheim, M. Kaulisch, K. Plümacher +37 more
2017Genetics in Medicine94 citations Open access
Semantic Scholar
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.
F. Habarou, Y. Hamel, T. Haack, R. Feichtinger +28 more
2017American Journal of Human Genetics74 citations Open access
Semantic Scholar
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.
Lysa Boissé Lomax, M. Bayly, H. Hjalgrim, R. Møller +22 more
2013Brain : a journal of neurology73 citations Open access
Semantic Scholar
High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors
Stefanie Spiegler, J. Najm, Jian Liu, Stephanie Gkalympoudis +27 more
2014Molecular Genetics & Genomic Medicine71 citations Open access
Semantic Scholar
Frequent genes in rare diseases: panel‐based next generation sequencing to disclose causal mutations in hereditary neuropathies
M. Dohrn, N. Glöckle, L. Mulahasanovic, Corina Heller +29 more
2017Journal of Neurochemistry70 citations Open access
Semantic Scholar
Retrospective evaluation of low long-term efficacy of antiepileptic drugs and ketogenic diet in 39 patients with CDKL5-related epilepsy.
A. Müller, I. Helbig, C. Jansen, Thomas Bast +22 more
2016European journal of paediatric neurology65 citations Open access
Semantic Scholar
Hyperphosphatasia‐mental retardation syndrome due to PIGV mutations: Expanded clinical spectrum
D. Horn, P. Krawitz, Anca Mannhardt, G. Korenke +1 more
2011American Journal of Medical Genetics. Part A60 citations
Semantic Scholar
Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3
G. Korenke, Marlene Eggert, H. Thiele, P. Nürnberg +2 more
2016Epilepsia56 citations Open access
Semantic Scholar
Biallelic PI4KA variants cause neurological, intestinal and immunological disease
C. Salter, Yi-Ying Cai, Bernice Lo, G. Helman +41 more
2021Brain : a journal of neurology50 citations Open access
Semantic Scholar
HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome
R. Hollstein, David A. Parry, Lisa Nalbach, Clare V. Logan +13 more
2015Journal of Medical Genetics48 citations Open access
Semantic Scholar
Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features
N. Rademacher, M. Hambrock, U. Fischer, B. Moser +11 more
2011Neurogenetics45 citations
Semantic Scholar
Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders
J. Döring, J. Schröter, J. Jüngling, S. Biskup +14 more
2021International Journal of Molecular Sciences38 citations Open access
Semantic Scholar
Epilepsy in KCNH1-related syndromes.
M. Mastrangelo, I. Scheffer, N. Bramswig, L. D. Nair +10 more
2016Epileptic disorders38 citations Open access
Semantic Scholar
Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase
P. Huppke, C. Brendel, G. Korenke, I. Marquardt +10 more
2012Human Mutation38 citations Open access
Semantic Scholar
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism
F. Miceli, C. Millevert, M. V. Soldovieri, Ilaria Mosca +30 more
2022EBioMedicine37 citations Open access
Semantic Scholar
Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema
Alicia B. Byrne, P. Brouillard, Drew L. Sutton, J. Kazenwadel +28 more
2022Science Translational Medicine36 citations Open access
Semantic Scholar
Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9
F. Kortüm, R. Jamra, M. Alawi, S. Berry +14 more
2018European Journal of Human Genetics35 citations Open access
Semantic Scholar
HACE1 deficiency leads to structural and functional neurodevelopmental defects
V. Nagy, R. Hollstein, Tsung-Pin Pai, Michel K. Herde +19 more
2019Neurology: Genetics34 citations Open access
Semantic Scholar
Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype
F. Kortüm, I. Marquardt, M. Alawi, G. Korenke +3 more
2017Pediatrics32 citations
Semantic Scholar
Exome sequencing results in identification and treatment of brain dopamine-serotonin vesicular transport disease.
M. Rath, G. Korenke, J. Najm, Georg F. Hoffmann +3 more
2017Journal of Neurological Sciences31 citations
Semantic Scholar
Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations.
T. Bierhals, G. Korenke, G. Uyanik, K. Kutsche
2013European Journal of Medical Genetics31 citations
Semantic Scholar
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Pauline E. Schneeberger, F. Kortüm, G. Korenke, M. Alawi +41 more
2020Brain : a journal of neurology30 citations Open access
Semantic Scholar
Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.
Bianca Dimitrov, N. Himmelreich, A. Hipgrave Ederveen, C. Lüchtenborg +21 more
2018Molecular Genetics and Metabolism30 citations Open access
Semantic Scholar
FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome.
M. Zimmermann, S. Schuster, S. Boesch, G. Korenke +7 more
2020Parkinsonism & Related Disorders28 citations
Semantic Scholar
Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/− mice
M. Pringsheim, D. Mitter, Simone Schröder, R. Warthemann +36 more
2019Annals of Clinical and Translational Neurology28 citations Open access
Semantic Scholar
Clinical Outcome of Children Presenting with a Severe Manifestation of Acute Disseminated Encephalomyelitis
K. Rostasy, A. Nagl, S. Lütjen, K. Roll +6 more
2009Neuropediatrics25 citations
Semantic Scholar
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Elodie M. Richard, S. Bakhtiari, Ashley P. L. Marsh, R. Kaiyrzhanov +101 more
2021American Journal of Human Genetics24 citations Open access
Semantic Scholar
Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia
Simone Schröder, Yun Li, Gökhan Yigit, J. Altmuller +16 more
2020Genetics in Medicine20 citations Open access
Semantic Scholar
Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.
S. Grünert, R. Schmitt, Sonja Marina Schlatter, C. Gemperle-Britschgi +18 more
2017Molecular Genetics and Metabolism20 citations Open access
Semantic Scholar
Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: A cautionary note
M. Vries, R. Rodenburg, E. Morava, M. Lammens +3 more
2008Journal of Inherited Metabolic Disease20 citations
Semantic Scholar
Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches.
S. Illsinger, G. Korenke, S. Boesch, M. Nocker +10 more
2020European Journal of Medical Genetics17 citations
Semantic Scholar
Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy
M. Al-Saady, C. Kaiser, Felipe Wakasuqui, G. Korenke +8 more
2021Neuropediatrics16 citations Open access
Semantic Scholar
Horizontal head titubation in infants with Joubert syndrome: a new finding
A. Poretti, H. Christen, Lindsay E. Elton, M. Baumgartner +6 more
2014Developmental Medicine & Child Neurology16 citations
Semantic Scholar
Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
J. Vornweg, S. Gläser, M. Ahmad-Anwar, A. Zimmer +6 more
2021British Journal of Dermatology14 citations Open access
Semantic Scholar
A Novel de novo Frameshift Mutation in the BCL11A Gene in a Patient with Intellectual Disability Syndrome and Epilepsy
G. Korenke, B. Schulte, S. Biskup, J. Neidhardt +1 more
2020Molecular Syndromology14 citations Open access
Semantic Scholar
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
R. Rius, A. Blakes, Yuyang Chen, Joachim De Jonghe +94 more
2025Nature Genetics13 citations Open access
Semantic Scholar
Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes
Fenja Markus, C. Angélini, A. Trimouille, G. Rudolf +10 more
2020Molecular Genetics & Genomic Medicine11 citations Open access
Semantic Scholar
Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient
L. Schlotawa, T. Dierks, Sophie Christoph, E. Cloppenburg +3 more
2019JIMD Reports11 citations Open access
Semantic Scholar

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