| # | Title | Journal | Year | Citations |
|---|
| 1 | Insights into Sex Chromosome Evolution and Aging from the Genome of a Short-Lived Fish | Cell | 2015 | 251 |
| 2 | PDE3A mutations cause autosomal dominant hypertension with brachydactyly | Nature Genetics | 2015 | 146 |
| 3 | Microdeletion and Microduplication Syndromes | Journal of Histochemistry and Cytochemistry | 2012 | 137 |
| 4 | Minireview: pH and synaptic transmission | FEBS Letters | 2013 | 132 |
| 5 | X chromosome aneuploidy in the Alzheimer’s disease brain | Molecular Cytogenetics | 2014 | 89 |
| 6 | Transthyretin Is Dysregulated in Preeclampsia, and Its Native Form Prevents the Onset of Disease in a Preclinical Mouse Model | American Journal of Pathology | 2013 | 74 |
| 7 | ER-phagy and human diseases | Cell Death and Differentiation | 2020 | 72 |
| 8 | DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome | American Journal of Human Genetics | 2016 | 66 |
| 9 | LaminA/C regulates epigenetic and chromatin architecture changes upon aging of hematopoietic stem cells | Genome Biology | 2018 | 66 |
| 10 | Significance of chromosome arm 14q loss in nonpapillary renal cell carcinomas | Genes Chromosomes and Cancer | 1997 | 63 |
| 11 | Common Fragile Sites: Genomic Hotspots of DNA Damage and Carcinogenesis | International Journal of Molecular Sciences | 2012 | 60 |
| 12 | First Molecular Cytogenetic High Resolution Characterization of the NIH 3T3 Cell Line by Murine Multicolor Banding | Journal of Histochemistry and Cytochemistry | 2013 | 50 |
| 13 | Comparative Chromosomal Mapping of Microsatellites in <b><i>Leporinus</i></b> Species (Characiformes, Anostomidae): Unequal Accumulation on the W Chromosomes | Cytogenetic and Genome Research | 2014 | 50 |
| 14 | Homeostatic plasticity and synaptic scaling in the adult mouse auditory cortex | Scientific Reports | 2017 | 50 |
| 15 | Nutritional status, dental caries and tooth eruption in children: a longitudinal study in Cambodia, Indonesia and Lao PDR | BMC Pediatrics | 2018 | 50 |
| 16 | Abdominal Obesity in German Adolescents Defined by Waist-to-Height Ratio and Its Association to Elevated Blood Pressure: The KiGGS Study | Obesity Facts | 2013 | 48 |
| 17 | Recommendations for whole genome sequencing in diagnostics for rare diseases | European Journal of Human Genetics | 2022 | 48 |
| 18 | The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2 | European Journal of Human Genetics | 2014 | 46 |
| 19 | Next generation phenotyping in Emanuel and Pallister‐Killian syndrome using computer‐aided facial dysmorphology analysis of 2D photos | Clinical Genetics | 2018 | 46 |
| 20 | NKCC1-Mediated GABAergic Signaling Promotes Postnatal Cell Death in Neocortical Cajal–Retzius Cells | Cerebral Cortex | 2017 | 45 |
| 21 | Systems genetics view of endometriosis: a common complex disorder | European Journal of Obstetrics, Gynecology and Reproductive Biology | 2015 | 44 |
| 22 | Highly conserved Z and molecularly diverged W chromosomes in the fish genus Triportheus (Characiformes, Triportheidae) | Heredity | 2017 | 44 |
| 23 | ‘Fit for school’ – a school-based water, sanitation and hygiene programme to improve child health: Results from a longitudinal study in Cambodia, Indonesia and Lao PDR | BMC Public Health | 2017 | 43 |
| 24 | Evidence for multi-copy Mega-NUMTsin the human genome | Nucleic Acids Research | 2021 | 42 |
| 25 | Chromosomal Mapping of Repetitive DNAs in Triportheus trifurcatus (Characidae, Characiformes): Insights into the Differentiation of the Z and W Chromosomes | PLoS ONE | 2014 | 42 |
| 26 | Genomic and transcriptomic profiling of resistant CEM/ADR-5000 and sensitive CCRF-CEM leukaemia cells for unravelling the full complexity of multi-factorial multidrug resistance | Scientific Reports | 2016 | 41 |
| 27 | Evolutionary Dynamics of rDNAs and U2 Small Nuclear DNAs in Triportheus (Characiformes, Triportheidae): High Variability and Particular Syntenic Organization | Zebrafish | 2017 | 38 |
| 28 | Anion transport and GABA signaling | Frontiers in Cellular Neuroscience | 2013 | 36 |
| 29 | Intercalated Cell Depletion and Vacuolar H+-ATPase Mistargeting in an Ae1 R607H Knockin Model | Journal of the American Society of Nephrology: JASN | 2017 | 36 |
| 30 | Monitoring of gas station attendants exposure to benzene, toluene, xylene (BTX) using three-color chromosome painting | Molecular Cytogenetics | 2014 | 35 |
| 31 | Validity of body mass index and waist circumference to detect excess fat mass in children aged 7–14 years | European Journal of Clinical Nutrition | 2011 | 34 |
| 32 | Complex small supernumerary marker chromosomes – an update | Molecular Cytogenetics | 2013 | 34 |
| 33 | Rapid screening and sensitive detection of NPM1 (nucleophosmin) exon 12 mutations in acute myeloid leukaemia | Leukemia Research | 2007 | 33 |
| 34 | Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases | Genetics in Medicine | 2019 | 33 |
| 35 | Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report | Molecular Cytogenetics | 2012 | 32 |
| 36 | X‐linked intellectual disability related genes disrupted by balanced X‐autosome translocations | American Journal of Medical Genetics Part B: Neuropsychiatric Genetics | 2015 | 32 |
| 37 | Heteromorphic variants of chromosome 9 | Molecular Cytogenetics | 2013 | 31 |
| 38 | Small Supernumerary Marker Chromosomes in Human Infertility | Cytogenetic and Genome Research | 2015 | 31 |
| 39 | W Chromosome Dynamics inTriportheusSpecies (Characiformes, Triportheidae): An Ongoing Process Narrated by Repetitive Sequences | Journal of Heredity | 2016 | 30 |
| 40 | New Findings on the Pathogenesis of Distal Renal Tubular Acidosis | Kidney Diseases (Basel, Switzerland) | 2017 | 29 |
| 41 | Percentile curves for skinfold thickness in 7- to 14-year-old children and adolescents from Jena, Germany | European Journal of Clinical Nutrition | 2012 | 27 |
| 42 | Multicolor FISH methods in current clinical diagnostics | Expert Review of Molecular Diagnostics | 2013 | 27 |
| 43 | Comprehensive chronic lymphocytic leukemia diagnostics by combined multiplex ligation dependent probe amplification (MLPA) and interphase fluorescence in situ hybridization (iFISH) | Molecular Cytogenetics | 2014 | 27 |
| 44 | Karyotype diversity and evolutionary trends in the Asian swamp eel Monopterus albus (Synbranchiformes, Synbranchidae): a case of chromosomal speciation? | BMC Evolutionary Biology | 2019 | 27 |
| 45 | Karyotype and cytogenetic mapping of 9 classes of repetitive DNAs in the genome of the naked catfish Mystus bocourti (Siluriformes, Bagridae) | Molecular Cytogenetics | 2013 | 26 |
| 46 | Genomic organization of repetitive DNAs and its implications for male karyotype and the neo-Y chromosome differentiation in Erythrinus erythrinus (Characiformes, Erythrinidae) | Comparative Cytogenetics | 2014 | 26 |
| 47 | Genetic mechanisms leading to primary amenorrhea in balanced X-autosome translocations | Fertility and Sterility | 2015 | 25 |
| 48 | The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomes | Human Genetics and Genomics Advances | 2022 | 25 |
| 49 | Specific detection of Flt3 point mutations by highly sensitive real-time polymerase chain reaction in acute myeloid leukemia | Translational Research | 2005 | 24 |
| 50 | Comparative cytogenetics in the genus Hoplias (Characiformes, Erythrinidae) highlights contrasting karyotype evolution among congeneric species | Molecular Cytogenetics | 2015 | 23 |
