| # | Title | Journal | Year | Citations |
|---|
| 1 | Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel ß1 subunit gene SCN1B | Nature Genetics | 1998 | 965 |
| 2 | Mutant GABAA receptor γ2-subunit in childhood absence epilepsy and febrile seizures | Nature Genetics | 2001 | 721 |
| 3 | Analysis of the creA gene, a regulator of carbon catabolite repression in Aspergillus nidulans. | Molecular and Cellular Biology | 1991 | 368 |
| 4 | DRONC, an ecdysone-inducible Drosophila caspase | Proceedings of the National Academy of Sciences of the United States of America | 1999 | 271 |
| 5 | Identification and characterization of the STIM (stromal interaction molecule) gene family: coding for a novel class of transmembrane proteins | Biochemical Journal | 2001 | 265 |
| 6 | Identification and characterization of the STIM (stromal interaction molecule) gene family: coding for a novel class of transmembrane proteins | Biochemical Journal | 2001 | 229 |
| 7 | Autosomal Dominant Nocturnal Frontal-Lobe Epilepsy: Genetic Heterogeneity and Evidence for a Second Locus at 15q24 | American Journal of Human Genetics | 1998 | 216 |
| 8 | Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda | Nature Genetics | 1999 | 188 |
| 9 | Regions of variant histone His2AvD required for Drosophila development | Nature | 1999 | 187 |
| 10 | The inheritance of scholastic abilities in a sample of twins I. Ascertainment of the sample and diagnosis of zygosity | Annals of Human Genetics | 1975 | 184 |
| 11 | Ectopic cyclin E expression induces premature entry into S phase and disrupts pattern formation in the Drosophila eye imaginal disc | Development (Cambridge) | 1995 | 184 |
| 12 | Human Chromosomal Fragile Site FRA16B Is an Amplified AT-Rich Minisatellite Repeat | Cell | 1997 | 182 |
| 13 | Analysis of the creA Gene, a Regulator of Carbon Catabolite Repression in Aspergillus nidulans | Molecular and Cellular Biology | 1991 | 177 |
| 14 | Cloning of the creA gene from Aspergillus nidulans: a gene involved in carbon catabolite repression | Current Genetics | 1989 | 165 |
| 15 | Debcl, a Proapoptotic Bcl-2 Homologue, Is a Component of the Drosophila melanogaster Cell Death Machinery | Journal of Cell Biology | 2000 | 161 |
| 16 | Zebrafish contains two Pax6 genes involved in eye development1The sequence reported in this paper has been deposited in the GenBank data base (accession no. AF061252).1 | Mechanisms of Development | 1998 | 159 |
| 17 | Dissecting the null model for biological invasions: A meta-analysis of the propagule pressure effect | PLoS Biology | 2018 | 156 |
| 18 | Fragile sites still breaking | Trends in Genetics | 1998 | 149 |
| 19 | TELOMERE ATTACHMENT OF CHROMOSOMES. SOME GENETICAL AND CYTOLOGICAL CONSEQUENCES | Genetics | 1966 | 146 |
| 20 | Characterization of the dead ringer Gene Identifies a Novel, Highly Conserved Family of Sequence-Specific DNA-Binding Proteins | Molecular and Cellular Biology | 1996 | 145 |
| 21 | A highly conserved novel family of mammalian developmental transcription factors related to Drosophila grainyhead | Mechanisms of Development | 2002 | 139 |
| 22 | An Essential Role for the Caspase Dronc in Developmentally Programmed Cell Death in Drosophila | Journal of Biological Chemistry | 2000 | 137 |
| 23 | Karyotypic variation in the Australian Gekko Phyllodactylus marmoratus (Gray) (Gekkonidae: Reptilia) | Chromosoma | 1976 | 130 |
| 24 | Sex chromosome pairing during male meiosis in marsupials | Chromosoma | 1982 | 122 |
| 25 | Quantitative determination of rDNA transcription units in vertebrate cells | Experimental Cell Research | 1991 | 119 |
| 26 | Independent Occurrence of the CHRNA4 Ser248Phe Mutation in a Norwegian Family with Nocturnal Frontal Lobe Epilepsy | Epilepsia | 2000 | 119 |
| 27 | The chromosomal distribution of phosphorylated histone H3 differs between plants and animals at meiosis | Chromosoma | 2000 | 119 |
| 28 | A de novo mutation in sporadic nocturnal frontal lobe epilepsy | Annals of Neurology | 2000 | 109 |
| 29 | Heterozygote frequencies in small subpopulations | Theoretical Population Biology | 1975 | 106 |
| 30 | The Aspergillus niger carbon catabolite repressor encoding gene, creA | Gene | 1993 | 103 |
| 31 | Ectopic cyclin E expression induces premature entry into S phase and disrupts pattern formation in the Drosophila eye imaginal disc | Development (Cambridge) | 1995 | 97 |
| 32 | Null Alleles ofcreA,the Regulator of Carbon Catabolite Repression inAspergillus nidulans | Fungal Genetics and Biology | 1997 | 93 |
| 33 | FRA10B Structure Reveals Common Elements in Repeat Expansion and Chromosomal Fragile Site Genesis | Molecular Cell | 1998 | 92 |
| 34 | Gene Localization for an Autosomal Dominant Familial Periodic Fever to 12p13 | American Journal of Human Genetics | 1998 | 92 |
| 35 | The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia Tarda | American Journal of Human Genetics | 2001 | 90 |
| 36 | Novel sex differences in linkage values and meiotic chromosome behaviour in a marsupial | Nature | 1986 | 88 |
| 37 | Expression of EphA4, Ephrin-A2 and Ephrin-A5 during Axon Outgrowth to the Hindlimb Indicates Potential Roles in Pathfinding | Developmental Neuroscience | 2000 | 88 |
| 38 | decapentaplegic is required for arrest in G1 phase during Drosophila eye development | Development (Cambridge) | 1998 | 87 |
| 39 | Social dominance, aggressiveness and mating success among male house mice (Mus musculus) | Oecologia | 1974 | 82 |
| 40 | Notes An inversion truncating the creA gene of Aspergillus niduians results in carbon catabolite derepression | Molecular Microbiology | 1990 | 79 |
| 41 | Aspirin kinetics and platelet aggregation in man | Clinical Pharmacology and Therapeutics | 1983 | 72 |
| 42 | Analysis of mutations in the creA gene involved in carbon catabolite repression in Aspergillus nidulans | Canadian Journal of Microbiology | 1996 | 71 |
| 43 | Specific expression of an expansin gene during elongation of cotton fibres | Biochimica Et Biophysica Acta Gene Regulatory Mechanisms | 1998 | 70 |
| 44 | The acetate regulatory gene facB of Aspergillus nidulans encodes a Zn(II)2Cys6 transcriptional activator | Molecular Genetics and Genomics | 1997 | 66 |
| 45 | Isolation of Nutritional Mutants of Neurospora crassa by Filtration Enrichment | Journal of General Microbiology | 1954 | 65 |
| 46 | Inhibition of Histidine Uptake in Neurospora crassa | Journal of General Microbiology | 1955 | 64 |
| 47 | Analysis of plastid DNA-like sequences within the nuclear genomes of higher plants | Molecular Biology and Evolution | 1998 | 64 |
| 48 | Colony dispersion and relationships of meat antsIridomyrmex purpureus and allies in an arid locality in south Australia | Insectes Sociaux | 1983 | 63 |
| 49 | The Grapes checkpoint coordinates nuclear envelope breakdown and chromosome condensation | Nature Cell Biology | 2000 | 60 |
| 50 | Transcriptional Regulation of the Human Erythroid 5-Aminolevulinate Synthase Gene | Journal of Biological Chemistry | 1997 | 58 |
