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M. Baudis · SciRah

Researcher profile · Semantic Scholar

M. Baudis

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M. Baudis — researcher profile on SciRah

h-index: 36
Works: 130
Citations: 5,651

Most-cited papers

Integrated Molecular Meta-Analysis of 1,000 Pediatric High-Grade and Diffuse Intrinsic Pontine Glioma
A. Mackay, A. Burford, Diana M. Carvalho, E. Izquierdo +59 more
2017Cancer Cell965 citations Open access
Semantic Scholar
GA4GH: International policies and standards for data sharing across genomic research and healthcare
H. Rehm, A. Page, Lindsay D. Smith, Jeremy B. Adams +198 more
2021Cell Genomics306 citations Open access
Semantic Scholar
Recurrent loss of heterozygosity in 1p36 associated with TNFRSF14 mutations in IRF4 translocation negative pediatric follicular lymphomas
I. Martín-Guerrero, I. Salaverria, B. Burkhardt, M. Szczepanowski +10 more
2013Haematologica169 citations Open access
Semantic Scholar
A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer
A. Wagner, B. Walsh, Georgia Mayfield, D. Tamborero +35 more
2020Nature Genetics142 citations Open access
Semantic Scholar
The Ubiquitin Ligase TRIP12 Limits PARP1 Trapping and Constrains PARP Inhibitor Efficiency
Marco Gatti, Ralph Imhof, Qingyao Huang, M. Baudis +1 more
2020Cell Reports110 citations Open access
Semantic Scholar
Chromothripsis-like patterns are recurring but heterogeneously distributed features in a survey of 22,347 cancer genome screens
Haoyang Cai, Nitin Kumar, Homayoun C. Bagheri, C. von Mering +2 more
2014BMC Genomics103 citations Open access
Semantic Scholar
The GA4GH Phenopacket schema defines a computable representation of clinical data
Julius O. B. Jacobsen, M. Baudis, Gareth S. Baynam, J. Beckmann +63 more
2022Nature Biotechnology97 citations Open access
Semantic Scholar
Federated discovery and sharing of genomic data using Beacons
M. Fiume, Miroslav Cupák, S. Keenan, J. Rambla +22 more
2019Nature Biotechnology97 citations Open access
Semantic Scholar
European infrastructures to access one million human genomes by 2022
Gary Saunders, M. Baudis, Regina Becker, S. Beltran +37 more
2019Nature reviews genetics89 citations Open access
Semantic Scholar
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.
M. Krieger, A. Roos, C. Stendel, K. Claeys +30 more
2013Brain : a journal of neurology83 citations Open access
Semantic Scholar
Silver‐Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues
M. Begemann, S. Spengler, Deniz Kanber, A. Haake +11 more
2011Clinical Genetics68 citations
Semantic Scholar
Comprehensive Characterization of Genomic Aberrations in Gangliogliomas by CGH, Array‐based CGH and Interphase FISH
A. Hoischen, M. Ehrler, J. Fassunke, M. Simon +7 more
2008Brain Pathology60 citations Open access
Semantic Scholar
International federation of genomic medicine databases using GA4GH standards
A. Thorogood, H. Rehm, P. Goodhand, A. Page +11 more
2021Cell Genomics52 citations Open access
Semantic Scholar
The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification
A. Wagner, L. Babb, G. Alterovitz, M. Baudis +24 more
2021Cell Genomics52 citations Open access
Semantic Scholar
Beacon v2 and Beacon networks: A “lingua franca” for federated data discovery in biomedical genomics, and beyond
J. Rambla, M. Baudis, Roberto Ariosa, Tim Beck +11 more
2022Human Mutation49 citations Open access
Semantic Scholar
MUC1 oncogene amplification correlates with protein overexpression in invasive breast carcinoma cells.
E. Lacunza, M. Baudis, A. Colussi, A. Segal-Eiras +2 more
2010Cancer Genetics and Cytogenetics49 citations Open access
Semantic Scholar
Submicroscopic chromosomal imbalances in idiopathic Silver–Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome
S. Spengler, Nadine Schönherr, G. Binder, H. Wollmann +5 more
2009Journal of Medical Genetics49 citations Open access
Semantic Scholar
Genomic Instability of Osteosarcoma Cell Lines in Culture: Impact on the Prediction of Metastasis Relevant Genes
R. Muff, Prisni Rath, Ram Mohan Ram Kumar, K. Husmann +3 more
2015PLoS ONE42 citations Open access
Semantic Scholar
Registered access: authorizing data access
Stephanie O. M. Dyke, Mikael Linden, I. Lappalainen, Jordi Rambla De Argila +43 more
2018European Journal of Human Genetics41 citations Open access
Semantic Scholar
arrayMap: A Reference Resource for Genomic Copy Number Imbalances in Human Malignancies
Haoyang Cai, Nitin Kumar, M. Baudis
2012PLoS ONE41 citations Open access
Semantic Scholar
Chromosome 11p15 duplication in Silver‐Russell syndrome due to a maternally inherited translocation t(11;15)
T. Eggermann, S. Spengler, N. Bachmann, M. Baudis +3 more
2010American Journal of Medical Genetics. Part A40 citations
Semantic Scholar
Progenetix: 12 years of oncogenomic data curation
Haoyang Cai, Nitin Kumar, Ni Ai, Saumya Gupta +2 more
2013Nucleic Acids Res.37 citations Open access
Semantic Scholar
High resolution copy number analysis of IRF4 translocation‐positive diffuse large B‐cell and follicular lymphomas
I. Salaverria, I. Martín-Guerrero, B. Burkhardt, M. Kreuz +14 more
2013Genes, Chromosomes and Cancer36 citations
Semantic Scholar
Molecular karyotyping as a relevant diagnostic tool in children with growth retardation with Silver-Russell features.
S. Spengler, M. Begemann, Nadina Ortiz Brüchle, M. Baudis +11 more
2012Jornal de Pediatria35 citations
Semantic Scholar
segment_liftover : a Python tool to convert segments between genome assemblies
Bo Gao, Qingyao Huang, M. Baudis
2018bioRxiv32 citations Open access
Semantic Scholar
Integrative genome-wide expression profiling identifies three distinct molecular subgroups of renal cell carcinoma with different patient outcome
Manfred Beleut, Philip Zimmermann, M. Baudis, Nicole Bruni +6 more
2012BMC Cancer29 citations Open access
Semantic Scholar
Improved Multiplex Ligation-Dependent Probe Amplification Analysis Identifies a Deleterious PMS2 Allele Generated by Recombination with Crossover Between PMS2 and PMS2CL
A. Wernstedt, E. Valtorta, F. Armelao, R. Togni +8 more
2012Genes, Chromosomes and Cancer26 citations Open access
Semantic Scholar
Increased expression of cellular retinol-binding protein 1 in laryngeal squamous cell carcinoma
R. Peralta, M. Baudis, G. Vázquez, S. Juárez +7 more
2010Journal of Cancer Research and Clinical Oncology25 citations Open access
Semantic Scholar
Recurrent loss, but lack of mutations, of the SMARCB1 tumor suppressor gene in T-cell prolymphocytic leukemia with TCL1A-TCRAD juxtaposition.
S. Bug, J. Durig, F. Oyen, L. Klein-Hitpass +8 more
2009Cancer Genetics and Cytogenetics25 citations Open access
Semantic Scholar
A harmonized meta-knowledgebase of clinical interpretations of cancer genomic variants
A. Wagner, B. Walsh, Georgia Mayfield, D. Tamborero +33 more
2018bioRxiv24 citations Open access
Semantic Scholar
The Progenetix oncogenomic resource in 2021
Qingyao Huang, Paula Carrio-Cordo, Bo Gao, Rahel Paloots +1 more
2021bioRxiv23 citations Open access
Semantic Scholar
Identification of a 21q22 duplication in a Silver–Russell syndrome patient further narrows down the Down syndrome critical region
T. Eggermann, Nadine Schönherr, S. Spengler, S. Jäger +3 more
2010American Journal of Medical Genetics. Part A22 citations
Semantic Scholar
GA4GH Phenopackets: A Practical Introduction
M. Ladewig, Julius O. B. Jacobsen, A. Wagner, D. Danis +15 more
2022Advanced genetics19 citations Open access
Semantic Scholar
PKCα and HMGB1 antagonistically control hydrogen peroxide-induced poly-ADP-ribose formation
Anneli Andersson, A. Bluwstein, Nitin Kumar, Federico Teloni +4 more
2016Nucleic Acids Research19 citations Open access
Semantic Scholar
arrayMap 2014: an updated cancer genome resource
Haoyang Cai, Saumya Gupta, Prisni Rath, Ni Ai +1 more
2014Nucleic Acids Res.18 citations Open access
Semantic Scholar
DNA Copy Number Changes in Diffuse Large B Cell Lymphomas
L. Cascione, L. Aresu, M. Baudis, F. Bertoni
2020Frontiers in Oncology16 citations Open access
Semantic Scholar
2p21 Deletions in hypotonia-cystinuria syndrome.
T. Eggermann, S. Spengler, A. Venghaus, B. Denecke +3 more
2012European Journal of Medical Genetics15 citations
Semantic Scholar
Phenopacket-tools: Building and validating GA4GH Phenopackets
D. Danis, Julius O. B. Jacobsen, A. Wagner, T. Groza +14 more
2023PLoS ONE13 citations Open access
Semantic Scholar
The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine
Julius O. B. Jacobsen, M. Baudis, Gareth S. Baynam, J. Beckmann +43 more
2021medRxiv13 citations Open access
Semantic Scholar
Krüppel-Like Factor 10 participates in cervical cancer immunoediting through transcriptional regulation of Pregnancy-Specific Beta-1 Glycoproteins
D. Marrero-Rodríguez, Keiko Taniguchi-Ponciano, M. Subramaniam, J. Hawse +15 more
2018Scientific Reports13 citations Open access
Semantic Scholar
Signatures of Discriminative Copy Number Aberrations in 31 Cancer Subtypes
Bo Gao, M. Baudis
2020bioRxiv12 citations Open access
Semantic Scholar
DNA copy number alterations in central primitive neuroectodermal tumors and tumors of the pineal region: an international individual patient data meta-analysis
A. V. Bueren, J. Gerss, C. Hagel, Haoyang Cai +9 more
2012Journal of Neuro-Oncology11 citations Open access
Semantic Scholar
Translocations Involving 8q24 in Burkitt Lymphoma and Other Malignant Lymphomas : A Historical Review of Cytogenetics in the Light of Todays Knowledge
E. Boerma, R. Siebert, M. Baudis, P. Kluin
200811 citations Open access
Semantic Scholar
Losses at chromosome 4q are associated with poor survival in operable ductal pancreatic adenocarcinoma.
A. Luebke, M. Baudis, H. Matthaei, Y. Vashist +7 more
2012Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]10 citations
Semantic Scholar
A 10.7 Mb interstitial deletion of 13q21 without phenotypic effect defines a further non‐pathogenic euchromatic variant
A. Roos, M. Elbracht, M. Baudis, J. Senderek +3 more
2008American Journal of Medical Genetics. Part A10 citations
Semantic Scholar
CDCOCA: A statistical method to define complexity dependence of co-occuring chromosomal aberrations
Nitin Kumar, H. Rehrauer, Haoyang Cai, M. Baudis
2011BMC Medical Genomics9 citations Open access
Semantic Scholar
Short tandem repeat mutations regulate gene expression in colorectal cancer
M. Verbiest, Oxana Lundström, Feifei Xia, M. Baudis +2 more
2023bioRxiv8 citations Open access
Semantic Scholar
Enabling population assignment from cancer genomes with SNP2pop
Qingyao Huang, M. Baudis
2020Scientific Reports8 citations Open access
Semantic Scholar
The GA4GH Variation Representation Specification (VRS): a Computational Framework for the Precise Representation and Federated Identification of Molecular Variation
A. Wagner, L. Babb, G. Alterovitz, M. Baudis +23 more
2021bioRxiv7 citations Open access
Semantic Scholar
Minimum error calibration and normalization for genomic copy number analysis.
Bo Gao, M. Baudis
2020Genomics6 citations Open access
Semantic Scholar

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