| # | Title | Journal | Year | Citations |
|---|
| 1 | Prion protein is necessary for normal synaptic function | Nature | 1994 | 748 |
| 2 | Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy | Nature | 1992 | 622 |
| 3 | Molecular mapping of alzheimer-type dementia in Down's syndrome | Annals of Neurology | 1998 | 334 |
| 4 | Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23–24.1 | Nature Genetics | 1993 | 298 |
| 5 | Human haploinsufficiency — one for sorrow, two for joy | Nature Genetics | 1994 | 193 |
| 6 | Hippocampal slices from prion protein null mice: disrupted Ca2+-activated K+ currents | Neuroscience Letters | 1996 | 165 |
| 7 | Transmission of fatal familial insomnia to laboratory animals | Lancet, The | 1995 | 147 |
| 8 | Rescue of neurophysiological phenotype seen in PrP null mice by transgene encoding human prion protein | Nature Genetics | 1995 | 141 |
| 9 | Screening for carriers of cystic fibrosis through primary health care services. | BMJ: British Medical Journal | 1991 | 135 |
| 10 | Cloning the mouse homolog of the human cystic fibrosis transmembrane conductance regulator gene | Genomics | 1991 | 100 |
| 11 | A new variant of prion disease | Lancet, The | 1996 | 91 |
| 12 | The Frequency and Position of Alu Repeats in cDNAs, as Determined by Database Searching | Genomics | 1995 | 86 |
| 13 | The challenge of fetal gene therapy | Nature Medicine | 1995 | 81 |
| 14 | In vitro liposome-mediated DNA transfection of epithelial cell lines using the cationic liposome DC-Chol/DOPE | Gene Therapy | 1995 | 78 |
| 15 | Universal community carrier screening for cystic fibrosis? | Nature Genetics | 1993 | 75 |
| 16 | Foetal gene delivery in mice by intra-amniotic administration of retroviral producer cells and adenovirus | Gene Therapy | 1997 | 74 |
| 17 | The time of appearance and disappearance of fetal DNA from the maternal circulation | Prenatal Diagnosis | 1995 | 69 |
| 18 | An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4 | Human Molecular Genetics | 1995 | 62 |
| 19 | Confirmation of the localization of the human GABAA receptor α1-subunit gene (GABRA1) to distal 5q by linkage analysis | Genomics | 1992 | 45 |
| 20 | A linkage study of the N-methyl-D-aspartate receptor subunit gene loci and schizophrenia in southern African Bantu-speaking families | Psychiatric Genetics | 1997 | 41 |
| 21 | A new polymorphic probe which defines the region of chromosome 19 containing the myotonic dystrophy locus | American Journal of Human Genetics | 1990 | 41 |
| 22 | Molecular genetics of human prion diseases | Philosophical Transactions of the Royal Society B: Biological Sciences | 1994 | 33 |
| 23 | Creutzfeldt-Jakob disease in a young woman | Lancet, The | 1996 | 31 |
| 24 | The electrocardiogram is a more sensitive indicator than echocardiography of hypertrophic cardiomyopathy in families with a mutation in the MYH7 gene. | Heart | 1994 | 28 |
| 25 | No evidence for linkage of chromosome 22 markers to schizophrenia in Southern African Bantu-speaking families | American Journal of Medical Genetics Part A | 1996 | 28 |
| 26 | Gene therapy for cystic fibrosis. | Archives of Disease in Childhood | 1993 | 27 |
| 27 | Segregation of ΔF508 and normal CFTR alleles in human sperm | Human Molecular Genetics | 1993 | 25 |
| 28 | Friedreich's ataxia: a defect in signal transduction? | Human Molecular Genetics | 1995 | 25 |
| 29 | No evidence for linkage of chromosome 6p markers to schizophrenia in Southern African Bantu-speaking families | Psychiatric Genetics | 1996 | 25 |
| 30 | Analysis of ribosomal and alphoid repetitive DNA by fiber-FISH | Cytogenetic and Genome Research | 1997 | 25 |
| 31 | Identification of a mutation in the beta cardiac myosin heavy chain gene in a family with hypertrophic cardiomyopathy. | Heart | 1993 | 24 |
| 32 | Mapping the Gene That Encodes Phosphatidylinositol-Specific Phospholipase C-γ2 in the Human and the Mouse | Genomics | 1994 | 23 |
| 33 | Successful targeting of the mouse cystic fibrosis transmembrane conductance regulator gene in embryonal stem cells | Transgenic Research | 1992 | 22 |
| 34 | GABAA receptor subunit genes as candidate genes for bipolar affective disorder—an association analysis | Psychiatric Genetics | 1992 | 20 |
| 35 | Mapping GRB2, a Signal Transduction Gene in the Human and the Mouse | Genomics | 1994 | 20 |
| 36 | Fetal somatic gene therapy | Molecular Human Reproduction | 1996 | 19 |
| 37 | Interstitial deletions in DiGeorge syndrome detected with microclones from 22q11 | Mammalian Genome | 1992 | 18 |
| 38 | A shuttle system for transfer of YACs between yeast and mammalian cells | Nucleic Acids Research | 1996 | 18 |
| 39 | Nondegradative in Vitro Labeling of Plasmid DNA | Analytical Biochemistry | 1995 | 17 |
| 40 | Human glial cell line-derived neurotrophic factor (GDNF) maps to chromosome 5 | Human Genetics | 1995 | 17 |
| 41 | Effect of amniotic fluid on cationic lipid mediated transfection and retroviral infection | Gene Therapy | 1996 | 17 |
| 42 | The DAD1 protein, whose defect causes apoptotic cell death, maps to human chromosome 14 | Genomics | 1995 | 16 |
| 43 | Sequence variation in intron of prion protein gene, crucial for complete diagnostic strategies | | 1996 | 13 |
| 44 | Autosomal dominant cerebellar ataxia with dementla: evidence for a fourth disease locus | Human Molecular Genetics | 1994 | 11 |
| 45 | Characterization of a YAC and cosmid contig containing markers tightly linked to the myotonic dystrophy locus on chromosome 19 | Genomics | 1992 | 8 |
| 46 | Genomic Organization and Mapping of the MouseP26s4ATPase Gene: A Member of the Remarkably Conserved AAA Gene Family | Genomics | 1996 | 7 |
| 47 | Non-parametric analysis of chromosome 6p24–22 marker data and schizophrenia in southern African Bantu-speaking families | Psychiatric Genetics | 1997 | 7 |
| 48 | The Gene That Encodes the Phosphatidylinositol-3 Kinase Regulatory Subunit (p85α) Maps to Chromosome 13 in the Mouse | Genomics | 1994 | 6 |
| 49 | A human SHC-related sequence maps to chromosome 17, the SHC gene maps to chromosome 1 | Human Genetics | 1995 | 5 |
| 50 | Sensitivity of HincW to CpG methylation | Nucleic Acids Research | 1993 | 4 |
