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M. Nothnagel · SciRah

Researcher profile · Semantic Scholar

M. Nothnagel

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M. Nothnagel — researcher profile on SciRah

h-index: 50
Works: 177
Citations: 9,873

Most-cited papers

A genome-wide association study confirms PNPLA3 and identifies TM6SF2 and MBOAT7 as risk loci for alcohol-related cirrhosis
S. Buch, F. Stickel, E. Trépo, Michael J. Way +44 more
2015Nature Genetics512 citations Open access
Semantic Scholar
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
J. Lemke, Dennis Lal, E. Reinthaler, Isabelle Steiner +67 more
2013Nature Genetics433 citations
Semantic Scholar
A global analysis of Y-chromosomal haplotype diversity for 23 STR loci
Josephine Purps, S. Siegert, Sascha Willuweit, M. Nagy +159 more
2014Forensic Science International: Genetics278 citations Open access
Semantic Scholar
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
S. Syrbe, U. Hedrich, E. Riesch, T. Djémié +45 more
2015Nature Genetics268 citations Open access
Semantic Scholar
Genome-wide search for novel human uORFs and N-terminal protein extensions using ribosomal footprinting
Claudia Fritsch, A. Herrmann, M. Nothnagel, K. Szafranski +7 more
2012Genome Research219 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
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation
E. Gardella, F. Becker, R. Møller, Julian Schubert +24 more
2016Annals of Neurology176 citations
Semantic Scholar
Association Between Variants of PRDM1 and NDP52 and Crohn’s Disease, Based on Exome Sequencing and Functional Studies
D. Ellinghaus, Hu Zhang, S. Zeissig, S. Lipinski +57 more
2013Gastroenterology165 citations Open access
Semantic Scholar
Heterozygous carriage of the alpha1-antitrypsin Pi*Z variant increases the risk to develop liver cirrhosis
P. Strnad, S. Buch, K. Hamesch, J. Fischer +56 more
2018Gut132 citations Open access
Semantic Scholar
Expanding the genetic architecture of nicotine dependence and its shared genetics with multiple traits
B. Quach, Michael J. Bray, Nathan C. Gaddis, Meng-Zhen Liu +42 more
2020Nature Communications107 citations Open access
Semantic Scholar
Continent-Wide Decoupling of Y-Chromosomal Genetic Variation from Language and Geography in Native South Americans
L. Roewer, M. Nothnagel, L. Gusmão, V. Gomes +27 more
2013PLoS Genetics99 citations Open access
Semantic Scholar
Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics
C. Ernst, E. Hahnen, C. Engel, M. Nothnagel +3 more
2018BMC Medical Genomics96 citations Open access
Semantic Scholar
Validation of reported genetic risk factors for periodontitis in a large-scale replication study.
A. Schaefer, Gregor Bochenek, T. Manke, M. Nothnagel +21 more
2013Journal of Clinical Periodontology93 citations
Semantic Scholar
Ancient DNA study reveals HLA susceptibility locus for leprosy in medieval Europeans
B. Krause-Kyora, Marcel Nutsua, Lisa Boehme, Federica Pierini +19 more
2018Nature Communications92 citations Open access
Semantic Scholar
Genetic and functional identification of the likely causative variant for cholesterol gallstone disease at the ABCG5/8 lithogenic locus
O. von Kampen, S. Buch, M. Nothnagel, L. Azócar +38 more
2013Hepatology86 citations Open access
Semantic Scholar
Meta-analysis identifies novel risk loci and yields systematic insights into the biology of male-pattern baldness
S. Heilmann-Heimbach, C. Herold, L. Hochfeld, A. M. Hillmer +32 more
2017Nature Communications79 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
Collaborative genetic mapping of 12 forensic short tandem repeat (STR) loci on the human X chromosome.
M. Nothnagel, R. Szibor, O. Vollrath, C. Augustin +20 more
2012Forensic Science International: Genetics70 citations Open access
Semantic Scholar
Distinct genetic variation and heterogeneity of the Iranian population
Zohreh Mehrjoo, Zohreh Fattahi, M. Beheshtian, M. Mohseni +26 more
2019PLoS Genetics65 citations Open access
Semantic Scholar
Rare variants in γ‐aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes
E. Reinthaler, Borislav Dejanovic, Dennis Lal, M. Semtner +28 more
2015Annals of Neurology61 citations
Semantic Scholar
A novel sarcoidosis risk locus for Europeans on chromosome 11q13.1.
A. Fischer, Benjamin Schmid, D. Ellinghaus, M. Nothnagel +21 more
2012American Journal of Respiratory and Critical Care Medicine57 citations
Semantic Scholar
Syddansk Universitet Identification and characterization of two functional variants in the human longevity gene
F. Flachsbart, Janina Dose, Liljana Gentschew, C. Geismann +30 more
201756 citations
Semantic Scholar
RETRACTED ARTICLE: Revisiting the male genetic landscape of China: a multi-center study of almost 38,000 Y-STR haplotypes
M. Nothnagel, Guang-Yao Fan, Fei Guo, Yongfeng He +37 more
2017Human Genetics55 citations
Semantic Scholar
Genome-wide association analysis reveals 12q13.3–q14.1 as new risk locus for sarcoidosis
Sylvia Hofmann, A. Fischer, M. Nothnagel, G. Jacobs +17 more
2012European Respiratory Journal54 citations Open access
Semantic Scholar
Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis.
F. Stickel, S. Buch, H. Zoller, R. Hultcrantz +33 more
2014Human Molecular Genetics50 citations Open access
Semantic Scholar
Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing
Dennis Lal, B. Neubauer, M. Toliat, J. Altmuller +7 more
2016PLoS ONE44 citations Open access
Semantic Scholar
True colors: A literature review on the spatial distribution of eye and hair pigmentation.
M. Katsara, M. Nothnagel
2019Forensic Science International: Genetics41 citations Open access
Semantic Scholar
Identification and characterization of two functional variants in the human longevity gene FOXO3
F. Flachsbart, Janina Dose, Liljana Gentschew, C. Geismann +30 more
2017Nature Communications36 citations Open access
Semantic Scholar
A case-only study of gene-environment interaction between genetic susceptibility variants in NOD2 and cigarette smoking in Crohn's disease aetiology
K. Helbig, M. Nothnagel, J. Hampe, Tobias C. Balschun +4 more
2012BMC Medical Genetics33 citations Open access
Semantic Scholar
Development and evaluations of the ancestry informative markers of the VISAGE Enhanced Tool for Appearance and Ancestry.
J. Ruiz-Ramírez, M. de la Puente, C. Xavier, A. Ambroa-Conde +22 more
2023Forensic Science International: Genetics32 citations Open access
Semantic Scholar
Evaluation of supervised machine-learning methods for predicting appearance traits from DNA.
M. Katsara, W. Branicki, Susan Walsh, M. Kayser +1 more
2021Forensic Science International: Genetics31 citations Open access
Semantic Scholar
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling
Reza Asadollahi, Justin E Strauss, M. Zenker, O. Beuing +21 more
2018European Journal of Human Genetics30 citations Open access
Semantic Scholar
Haplotypes of IL-12Rβ1 impact on the clinical phenotype of hidradenitis suppurativa.
Sophia Giatrakos, K. Huse, T. Kanni, V. Tzanetakou +9 more
2013Cytokine30 citations
Semantic Scholar
Development and Evaluation of the Ancestry Informative Marker Panel of the VISAGE Basic Tool
M. de la Puente, J. Ruiz-Ramírez, A. Ambroa-Conde, C. Xavier +14 more
2021Genes29 citations Open access
Semantic Scholar
A Rare Variant Nonparametric Linkage Method for Nuclear and Extended Pedigrees with Application to Late-Onset Alzheimer Disease via WGS Data.
Linhai Zhao, Zongxiao He, Di Zhang, Gao T. Wang +6 more
2019American Journal of Human Genetics26 citations Open access
Semantic Scholar
Prognostic relevance of gastric cancer staging by endoscopic ultrasound
Christian Jürgensen, Jana Brand, M. Nothnagel, A. Arlt +6 more
2013Surgical Endoscopy26 citations
Semantic Scholar
Serum metabolomic profiling highlights pathways associated with liver fat content in a general population sample
M. Koch, S. Freitag-Wolf, S. Schlesinger, J. Borggrefe +19 more
2017European Journal of Clinical Nutrition25 citations
Semantic Scholar
The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?
E. Seemanová, R. Varon, J. Vejvalka, P. Jarolím +17 more
2016PLoS ONE25 citations Open access
Semantic Scholar
Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy
D. Bobbili, Dennis Lal, P. May, E. Reinthaler +20 more
2018European Journal of Human Genetics23 citations Open access
Semantic Scholar
Shannon's equivocation for forensic Y-STR marker selection.
S. Siegert, L. Roewer, M. Nothnagel
2015Forensic Science International: Genetics21 citations
Semantic Scholar
Genetic mapping of 15 human X chromosomal forensic short tandem repeat (STR) loci by means of multi-core parallelization.
Toni M. Diegoli, Heinrich Rohde, Stefan Borowski, M. Krawczak +2 more
2016Forensic Science International: Genetics20 citations Open access
Semantic Scholar
Effects of Pleistocene climatic fluctuations on the phylogeography, demography and population structure of a high‐elevation snake species, Thermophis baileyi, on the Tibetan Plateau
Sylvia Hofmann, S. Kraus, T. Dorge, M. Nothnagel +2 more
201419 citations
Semantic Scholar
Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes
Tobias Brünger, E. Pérez-Palma, L. Montanucci, M. Nothnagel +9 more
2022bioRxiv18 citations Open access
Semantic Scholar
Distinct gene-set burden patterns underlie common generalized and focal epilepsies
M. Koko, R. Krause, T. Sander, D. Bobbili +3 more
2021EBioMedicine16 citations Open access
Semantic Scholar
The impact of correlations between pigmentation phenotypes and underlying genotypes on genetic prediction of pigmentation traits.
Yan Chen, W. Branicki, Susan Walsh, M. Nothnagel +2 more
2020Forensic Science International: Genetics16 citations Open access
Semantic Scholar
Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2
S. Lipinski, B. Petersen, M. Barann, Agnes Piecyk +21 more
2019Cold Spring Harbor molecular case studies16 citations Open access
Semantic Scholar
CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online
Marie Macnee, E. Pérez-Palma, Tobias Brünger, Chiara Klöckner +13 more
2022medRxiv14 citations Open access
Semantic Scholar
Evaluation of potential effects of Plastin 3 overexpression and low-dose SMN-antisense oligonucleotides on putative biomarkers in spinal muscular atrophy mice
Eike A. Strathmann, Miriam Peters, S. Hosseinibarkooie, F. Rigo +5 more
2018PLoS ONE13 citations Open access
Semantic Scholar
Self-Management education for adults with poorly controlled epILEpsy (SMILE-UK): Platform presentation
Lisa M. Neupert, P. May, K. Kobow, M. Nothnagel +7 more
201713 citations Open access
Semantic Scholar
Association studies of the copy-number variable ß-defensin cluster on 8p23.1 in adenocarcinoma and chronic pancreatitis
S. Taudien, G. Gäbel, O. Kuss, Marco Groth +11 more
2012BMC Research Notes13 citations Open access
Semantic Scholar

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