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J. Winkelmann · SciRah

Researcher profile · Semantic Scholar

J. Winkelmann

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J. Winkelmann — researcher profile on SciRah

h-index: 74
Works: 278
Citations: 23K

Most-cited papers

Biological and clinical insights from genetics of insomnia symptoms
J. Lane, S. Jones, H. Dashti, A. Wood +55 more
2019Nature Genetics374 citations Open access
Semantic Scholar
IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes
Y. Momozawa, Julia Dmitrieva, E. Théâtre, V. Deffontaine +191 more
2018Nature Communications219 citations Open access
Semantic Scholar
Comorbidities, treatment, and pathophysiology in restless legs syndrome.
C. Trenkwalder, R. Allen, B. Högl, S. Clemens +3 more
2018Lancet Neurology218 citations
Semantic Scholar
Monogenic variants in dystonia: an exome-wide sequencing study
M. Zech, R. Jech, S. Boesch, M. Škorvánek +107 more
2020Lancet Neurology190 citations Open access
Semantic Scholar
Treatment of restless legs syndrome: Evidence‐based review and implications for clinical practice (Revised 2017) §
J. Winkelmann, R. Allen, B. Högl, Y. Inoue +5 more
2018Movement Disorders150 citations Open access
Semantic Scholar
Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal dementia and GRN mutations: a genome-wide association study
C. Pottier, Xiaolai Zhou, R. B. Perkerson, M. Baker +129 more
2018Lancet Neurology118 citations Open access
Semantic Scholar
Opposite microglial activation stages upon loss of PGRN or TREM2 result in reduced cerebral glucose metabolism
Julia K. Götzl, M. Brendel, G. Werner, S. Parhizkar +19 more
2019EMBO Molecular Medicine112 citations Open access
Semantic Scholar
De novo variants in neurodevelopmental disorders—experiences from a tertiary care center
T. Brunet, R. Jech, M. Brugger, R. Kovács +30 more
2021Clinical Genetics105 citations Open access
Semantic Scholar
Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities
D. Steel, M. Zech, Chen Zhao, K. Barwick +49 more
2020Annals of Neurology99 citations Open access
Semantic Scholar
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
M. Cousin, Blake A. Creighton, Keith A. Breau, R. Spillmann +70 more
2021Nature Genetics94 citations Open access
Semantic Scholar
Diagnostic exome sequencing in early‐onset Parkinson's disease confirms VPS13C as a rare cause of autosomal‐recessive Parkinson's disease
B. Schormair, D. Kemlink, B. Mollenhauer, Ondrej Fiala +10 more
2018Clinical Genetics89 citations Open access
Semantic Scholar
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
L. Bryant, Dong Li, Samuel G. Cox, Dylan M. Marchione +128 more
2020Science Advances76 citations Open access
Semantic Scholar
Meta-analyses identify DNA methylation associated with kidney function and damage
P. Schlosser, A. Tin, P. Matías-García, C. Thio +109 more
2021Nature Communications59 citations Open access
Semantic Scholar
Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy
H. Ollila, Eilon Sharon, Ling Lin, Nicholas A. Sinnott-Armstrong +86 more
2023Nature Communications57 citations Open access
Semantic Scholar
Clinico-genetic findings in 509 frontotemporal dementia patients
M. Wagner, G. Lorenz, A. Volk, T. Brunet +29 more
2021Molecular Psychiatry54 citations Open access
Semantic Scholar
Update on KMT2B-Related Dystonia
M. Zech, Daniel D. Lam, J. Winkelmann
2019Current Neurology and Neuroscience Reports52 citations Open access
Semantic Scholar
Relationship of serum beta‐synuclein with blood biomarkers and brain atrophy
P. Oeckl, S. Anderl-Straub, A. Danek, J. Diehl-Schmid +19 more
2022Alzheimer's & Dementia50 citations Open access
Semantic Scholar
Rare Variants in Specific Lysosomal Genes Are Associated With Parkinson's Disease
Franziska Hopfner, Stefanie H. Müller, S. Szymczak, O. Junge +23 more
2020Movement Disorders47 citations
Semantic Scholar
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia
M. Wagner, D. Osborn, Ina Gehweiler, Maike Nagel +25 more
2019Nature Communications47 citations Open access
Semantic Scholar
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort
Eva-Juliane Vollstedt, S. Schaake, K. Lohmann, S. Padmanabhan +130 more
2023Movement Disorders44 citations Open access
Semantic Scholar
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.
Nazanin Mirza-Schreiber, M. Zech, R. Wilson, T. Brunet +24 more
2021Brain : a journal of neurology37 citations Open access
Semantic Scholar
DNAm-based signatures of accelerated aging and mortality in blood are associated with low renal function
P. Matías-García, Cavin K. Ward-Caviness, L. Raffield, Xu Gao +36 more
2021Clinical Epigenetics37 citations Open access
Semantic Scholar
Variants in mitochondrial ATP synthase cause variable neurologic phenotypes
M. Zech, R. Kopajtich, K. Steinbrücker, C. Bris +30 more
2021Annals of Neurology36 citations Open access
Semantic Scholar
Impact of BMI and waist circumference on epigenome-wide DNA methylation and identification of epigenetic biomarkers in blood: an EWAS in multi-ethnic Asian individuals
Yuqing Chen, I. Kassam, S. Lau, J. Kooner +10 more
2021Clinical Epigenetics35 citations Open access
Semantic Scholar
Plasma Proteomics of Renal Function: A Transethnic Meta-Analysis and Mendelian Randomization Study
P. Matías-García, R. Wilson, Qi Guo, S. Zaghlool +33 more
2021Journal of the American Society of Nephrology33 citations Open access
Semantic Scholar
KMT2B Is Selectively Required for Neuronal Transdifferentiation, and Its Loss Exposes Dystonia Candidate Genes
G. Barbagiovanni, Pierre-Luc Germain, M. Zech, S. Atashpaz +11 more
2018Cell Reports33 citations Open access
Semantic Scholar
HOPS-associated neurological disorders (HOPSANDs): linking endolysosomal dysfunction to the pathogenesis of dystonia.
E. Monfrini, M. Zech, D. Steel, M. Kurian +2 more
2021Brain : a journal of neurology32 citations Open access
Semantic Scholar
Methylation status of nc886 epiallele reflects periconceptional conditions and is associated with glucose metabolism through nc886 RNAs
S. Marttila, Leena E. Viiri, Pashupati P. Mishra, Brigitte Kühnel +15 more
2021Clinical Epigenetics27 citations Open access
Semantic Scholar
Epigenome-wide association study of serum urate reveals insights into urate co-regulation and the SLC2A9 locus
A. Tin, P. Schlosser, P. Matías-García, C. Thio +99 more
2021Nature Communications26 citations Open access
Semantic Scholar
Clinical, neuroimaging, and molecular spectrum of TECPR2‐associated hereditary sensory and autonomic neuropathy with intellectual disability
S. Neuser, Barbara Brechmann, G. Heimer, I. Brösse +46 more
2020medRxiv26 citations Open access
Semantic Scholar
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy
Sakshi Singh, Aditi Gupta, M. Zech, Ashley N. Sigafoos +25 more
2020Genetics in Medicine25 citations Open access
Semantic Scholar
Biallelic AOPEP Loss‐of‐Function Variants Cause Progressive Dystonia with Prominent Limb Involvement
M. Zech, K. Kumar, Sophie Reining, J. Reunert +25 more
2021Movement Disorders24 citations Open access
Semantic Scholar
WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia.
M. Škorvánek, I. Rektorová, W. Mandemakers, M. Wagner +22 more
2021Parkinsonism & Related Disorders24 citations Open access
Semantic Scholar
Scoring Algorithm‐Based Genomic Testing in Dystonia: A Prospective Validation Study
M. Zech, R. Jech, S. Boesch, M. Škorvánek +34 more
2021Movement Disorders23 citations Open access
Semantic Scholar
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia
Kamal Khan, M. Zech, A. Morgan, D. Amor +26 more
2019Genetics in Medicine23 citations Open access
Semantic Scholar
Episignature analysis of moderate effects and mosaics
K. Oexle, M. Zech, Lara G. Stühn, Sandy Siegert +19 more
2023European Journal of Human Genetics22 citations Open access
Semantic Scholar
Genetic intersection between dystonia and neurodevelopmental disorders: Insights from genomic sequencing.
Ivana Dzinovic, J. Winkelmann, M. Zech
2022Parkinsonism & Related Disorders22 citations
Semantic Scholar
Dystonia as a prominent presenting feature in developmental and epileptic encephalopathies: A case series.
Ivana Dzinovic, M. Škorvánek, J. Necpál, S. Boesch +12 more
2021Parkinsonism & Related Disorders22 citations
Semantic Scholar
Role of MEIS1 in restless legs syndrome: From GWAS to functional studies in mice.
A. Salminen, Daniel D. Lam, J. Winkelmann
2019Advances in Pharmacology22 citations
Semantic Scholar
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.
K. Smallwood, Kristin E. N. Watt, Satoru Ide, Kristina Baltrunaite +41 more
2023American Journal of Human Genetics21 citations Open access
Semantic Scholar
Clinically relevant copy-number variants in exome sequencing data of patients with dystonia.
M. Zech, S. Boesch, M. Škorvánek, J. Necpál +29 more
2021Parkinsonism & Related Disorders21 citations
Semantic Scholar
Identification of Restless Legs Syndrome Genes by Mutational Load Analysis
E. Tilch, B. Schormair, Chen Zhao, A. Salminen +18 more
2019Annals of Neurology21 citations Open access
Semantic Scholar
Variants in ATP5F1B are associated with dominantly inherited dystonia
A. Nasca, N. Mencacci, F. Invernizzi, M. Zech +14 more
2023Brain : a journal of neurology19 citations Open access
Semantic Scholar
Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes.
Ivana Dzinovic, S. Boesch, M. Škorvánek, J. Necpál +16 more
2022Parkinsonism & Related Disorders19 citations
Semantic Scholar
Identification of Autophagy as a Functional Target Suitable for the Pharmacological Treatment of Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) In Vitro
Enrica Zanuttigh, K. Derderian, Miriam A. Güra, A. Geerlof +13 more
2023Pharmaceutics18 citations Open access
Semantic Scholar
Dietary and supplemental intake of vitamins C and E is associated with altered DNA methylation in an epigenome-wide association study meta-analysis
A. Keshawarz, R. Joehanes, Jian-Tao Ma, G. Lee +30 more
2023Epigenetics18 citations Open access
Semantic Scholar
Fast versus slow disease progression in amyotrophic lateral sclerosis-clinical and genetic factors at the edges of the survival spectrum.
S. Witzel, M. Wagner, Chen Zhao, Katharina Kandler +6 more
2022Neurobiology of Aging18 citations
Semantic Scholar
Restless Legs Syndrome and Other Movement Disorders of Sleep—Treatment Update
A. Salminen, J. Winkelmann
2018Current Treatment Options in Neurology18 citations
Semantic Scholar
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder
P. Blackburn, F. Ebstein, Tzung-Chien Hsieh, M. Motta +75 more
2024Annals of Neurology17 citations Open access
Semantic Scholar
A Novel Variant of ATP5MC3 associated with both dystonia and spastic paraplegia
D. Neilson, M. Zech, R. Hufnagel, J. Slone +14 more
2021Movement Disorders17 citations Open access
Semantic Scholar

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