J. Rommens

Publications207
h-index69
Citations41,026
Highly Influential Citations1,428
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Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.
Overlapping complementary DNA clones were isolated from epithelial cell libraries with a genomic DNA segment containing a portion of the putative cystic fibrosis (CF) locus, which is on chromosome 7.… Expand
  • 3,404
  • 214
  • PDF
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
Some cases of Alzheimer's disease are inherited as an autosomal dominant trait. Genetic linkage studies have mapped a locus (AD3) associated with susceptibility to a very aggressive form of… Expand
  • 3,890
  • 164
Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene
WE report the cloning of a novel gene (E5-1) encoded on chromosome 1 which has substantial nucleotide and amino-acid sequence similarity to the S182 gene on chromosome 14q24.3. Mutations, including… Expand
  • 1,956
  • 83
  • PDF
Identification of the cystic fibrosis gene: genetic analysis.
Approximately 70 percent of the mutations in cystic fibrosis patients correspond to a specific deletion of three base pairs, which results in the loss of a phenylalanine residue at amino acid… Expand
  • 2,794
  • 57
Mutations in SBDS are associated with Shwachman–Diamond syndrome
Shwachman–Diamond syndrome (SDS; OMIM 260400) is an autosomal recessive disorder with clinical features that include pancreatic exocrine insufficiency, hematological dysfunction and skeletal… Expand
  • 604
  • 48
Identification of the cystic fibrosis gene: Chromosome walking and jumping
An understanding of the basic defect in the inherited disorder cystic fibrosis requires cloning of the cystic fibrosis gene and definition of its protein product. In the absence of direct functional… Expand
  • 2,269
  • 40
Bone progenitor dysfunction induces myelodysplasia and secondary leukemia
Mesenchymal cells contribute to the ‘stroma’ of most normal and malignant tissues, with specific mesenchymal cells participating in the regulatory niches of stem cells. By examining how mesenchymal… Expand
  • 878
  • 40
The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene
Wilson disease (WD) is an autosomal recessive disorder of copper transport, resulting in copper accumulation and toxicity to the liver and brain. The gene (WD) has been mapped to chromosome 13 q14.3.… Expand
  • 1,671
  • 39
Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid β-protein in both transfected cells and transgenic mice
The mechanism by which mutations in the presenilin (PS) genes cause the most aggressive form of early-onset Alzheimer's disease (AD) is unknown, but fibroblasts from mutation carriers secrete… Expand
  • 1,260
  • 39
Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.
Overlapping complementary DNA clones were isolated from epithelial cell libraries with a genomic DNA segment containing a portion of the putative cystic fibrosis (CF) locus, which is on chromosome 7.… Expand
  • 3,704
  • 36
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