| # | Title | Journal | Year | Citations |
|---|
| 1 | Modeling of C/EBPα Mutant Acute Myeloid Leukemia Reveals a Common Expression Signature of Committed Myeloid Leukemia-Initiating Cells | Cancer Cell | 2008 | 225 |
| 2 | Integrative genomic and transcriptomic analysis of leiomyosarcoma | Nature Communications | 2018 | 197 |
| 3 | GRIN2Bencephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects | Journal of Medical Genetics | 2017 | 190 |
| 4 | The biology and mathematical modelling of glioma invasion: a review | Journal of the Royal Society Interface | 2017 | 156 |
| 5 | Mutation Update for Kabuki Syndrome GenesKMT2DandKDM6Aand Further Delineation of X-Linked Kabuki Syndrome Subtype 2 | Human Mutation | 2016 | 134 |
| 6 | Precision oncology based on omics data: The NCT Heidelberg experience | International Journal of Cancer | 2017 | 133 |
| 7 | Gene panel testing of 5589 BRCA1/2‐negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer | Cancer Medicine | 2018 | 126 |
| 8 | Comprehensive Genomic and Transcriptomic Analysis for Guiding Therapeutic Decisions in Patients with Rare Cancers | Cancer Discovery | 2021 | 125 |
| 9 | Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development | Neuron | 2020 | 121 |
| 10 | Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification | Human Mutation | 2019 | 102 |
| 11 | Gene deregulation and spatial genome reorganization near breakpoints prior to formation of translocations in anaplastic large cell lymphoma | Proceedings of the National Academy of Sciences of the United States of America | 2009 | 94 |
| 12 | The histone demethylase UTX regulates stem cell migration and hematopoiesis | Blood | 2013 | 93 |
| 13 | Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly | Genetics in Medicine | 2018 | 92 |
| 14 | Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants | Journal of Clinical Oncology | 2022 | 90 |
| 15 | BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer | Breast Cancer Research | 2018 | 78 |
| 16 | Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer | JAMA Oncology | 2017 | 74 |
| 17 | Mutations inEXOSC2are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt | Journal of Medical Genetics | 2016 | 69 |
| 18 | Severe forms of Baraitser–Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations | European Journal of Human Genetics | 2014 | 67 |
| 19 | Defective homologous recombination DNA repair as therapeutic target in advanced chordoma | Nature Communications | 2019 | 64 |
| 20 | Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma | Genetics in Medicine | 2019 | 60 |
| 21 | Highly Significant Antiviral Activity of HIV-1 LTR-Specific Tre-Recombinase in Humanized Mice | PLoS Pathogens | 2013 | 55 |
| 22 | The CD98 Heavy Chain Is a Marker and Regulator of Head and Neck Squamous Cell Carcinoma Radiosensitivity | Clinical Cancer Research | 2019 | 53 |
| 23 | International consensus recommendations on the diagnostic work-up for malformations of cortical development | Nature Reviews Neurology | 2020 | 53 |
| 24 | The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich's ataxia | Journal of Molecular Medicine | 2001 | 46 |
| 25 | Metabologenomics of Phaeochromocytoma and Paraganglioma: An Integrated Approach for Personalised Biochemical and Genetic Testing | Clinical Biochemist Reviews | 2017 | 46 |
| 26 | The identification of pathogenic variants in BRCA1/2 negative, high risk, hereditary breast and/or ovarian cancer patients: High frequency of FANCM pathogenic variants | International Journal of Cancer | 2019 | 45 |
| 27 | De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies | American Journal of Human Genetics | 2019 | 44 |
| 28 | Further delineation of Malan syndrome | Human Mutation | 2018 | 42 |
| 29 | Genomic loss of the putative tumor suppressor gene E2A in human lymphoma | Journal of Experimental Medicine | 2011 | 41 |
| 30 | Cell adhesion heterogeneity reinforces tumour cell dissemination: novel insights from a mathematical model | Biology Direct | 2017 | 41 |
| 31 | Single agent talacotuzumab demonstrates limited efficacy but considerable toxicity in elderly high-risk MDS or AML patients failing hypomethylating agents | Leukemia | 2020 | 39 |
| 32 | Targeted and Genomewide NGS Data Disqualify Mutations inMYO1A, the “DFNA48Gene”, as a Cause of Deafness | Human Mutation | 2014 | 38 |
| 33 | Comparative transcriptomics reveals similarities and differences between astrocytoma grades | BMC Cancer | 2015 | 38 |
| 34 | Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia | Nature Communications | 2018 | 38 |
| 35 | Chromosomal instability induced by increased BIRC5/Survivin levels affects tumorigenicity of glioma cells | BMC Cancer | 2017 | 36 |
| 36 | Response to olaparib in a PALB2 germline mutated prostate cancer and genetic events associated with resistance | Journal of Physical Education and Sports Management | 2019 | 36 |
| 37 | Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases | Epilepsia | 2017 | 35 |
| 38 | Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies | PLoS Genetics | 2017 | 35 |
| 39 | Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1 | European Journal of Human Genetics | 2018 | 30 |
| 40 | Network-based analysis of oligodendrogliomas predicts novel cancer gene candidates within the region of the 1p/19q co-deletion | Acta Neuropathologica Communications | 2018 | 30 |
| 41 | Targeted capture-based NGS is superior to multiplex PCR-based NGS for hereditary BRCA1 and BRCA2 gene analysis in FFPE tumor samples | BMC Cancer | 2019 | 30 |
| 42 | The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification | Journal of Human Genetics | 2020 | 30 |
| 43 | Validation of the Manchester scoring system for predicting BRCA1/2 mutations in 9,390 families suspected of having hereditary breast and ovarian cancer | International Journal of Cancer | 2014 | 29 |
| 44 | Parental mosaicism in epilepsies due to alleged de novo variants | Epilepsia | 2019 | 29 |
| 45 | Update on the ACTG1‐associated Baraitser–Winter cerebrofrontofacial syndrome | American Journal of Medical Genetics, Part A | 2016 | 28 |
| 46 | Network-based analysis of prostate cancer cell lines reveals novel marker gene candidates associated with radioresistance and patient relapse | PLoS Computational Biology | 2019 | 27 |
| 47 | Synergistic Highly Potent Targeted Drug Combinations in Different Pheochromocytoma Models Including Human Tumor Cultures | Endocrinology | 2019 | 24 |
| 48 | The contribution of homology arms to nuclease-assisted genome engineering | Nucleic Acids Research | 2017 | 23 |
| 49 | Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches | Cancers | 2019 | 23 |
| 50 | Mutant IDH1 Differently Affects Redox State and Metabolism in Glial Cells of Normal and Tumor Origin | Cancers | 2019 | 23 |
