Johanna M Rommens

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Johanna M



Publications in SciGraph latest 50 shown

  • 2018-12 Improving imputation in disease-relevant regions: lessons from cystic fibrosis in NPJ GENOMIC MEDICINE
  • 2017-12 Phenotypic profiling of CFTR modulators in patient-derived respiratory epithelia in NPJ GENOMIC MEDICINE
  • 2016-04 Prevalence of meconium ileus marks the severity of mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene in GENETICS IN MEDICINE
  • 2016-02 Bias in CFTR screening panels in GENETICS IN MEDICINE
  • 2015-12 Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis in NATURE COMMUNICATIONS
  • 2014-02 Unraveling the complex genetic model for cystic fibrosis: pleiotropic effects of modifier genes on early cystic fibrosis-related morbidities in HUMAN GENETICS
  • 2013-10 Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene in NATURE GENETICS
  • 2013-06 Mammographic density and breast cancer: a comparison of related and unrelated controls in the Breast Cancer Family Registry in BREAST CANCER RESEARCH
  • 2012-05 Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis in NATURE GENETICS
  • 2011-12 A genome-wide linkage study of mammographic density, a risk factor for breast cancer in BREAST CANCER RESEARCH
  • 2011-06 Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2 in NATURE GENETICS
  • 2011-03 Common variants in ZNF365 are associated with both mammographic density and breast cancer risk in NATURE GENETICS
  • 2010-04 Bone progenitor dysfunction induces myelodysplasia and secondary leukaemia in NATURE
  • 2009 Mammographic Density: A Heritable Risk Factor for Breast Cancer in CANCER EPIDEMIOLOGY
  • 2006-08 Erratum: Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type in NATURE GENETICS
  • 2006-01 Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type in NATURE GENETICS
  • 2003-01 Mutations in SBDS are associated with Shwachman–Diamond syndrome in NATURE GENETICS
  • 2002-04 Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2001-11 Non-CFTR chloride channels likely contribute to secretion in the murine small intestine in PFLÜGERS ARCHIV - EUROPEAN JOURNAL OF PHYSIOLOGY
  • 2000-08 Transcription mapping and expression analysis of candidate genes in the vicinity of the mouse Loop-tail mutation in MAMMALIAN GENOME
  • 1999-06 Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly in NATURE GENETICS
  • 1998-02 Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy in NATURE GENETICS
  • 1998 Presenilin Proteins and the Pathogenesis of Early-Onset Familial Alzheimer’s Disease: β-Amyloid Production and Parallels to Prion Diseases in PRIONS AND BRAIN DISEASES IN ANIMALS AND HUMANS
  • 1997-03 Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1 in NATURE GENETICS
  • 1997-01 Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid β-protein in both transfected cells and transgenic mice in NATURE MEDICINE
  • 1997-01 De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome in NATURE GENETICS
  • 1996-11 Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly in NATURE GENETICS
  • 1996-05 BRCA2 germline mutations in male breast cancer cases and breast cancer families in NATURE GENETICS
  • 1995-08 Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene in NATURE
  • 1994-12 Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families in NATURE GENETICS
  • 1994-02 Corrigendum: The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene in NATURE GENETICS
  • 1993-12 The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene in NATURE GENETICS
  • 1993-11 Multi-ion pore behaviour in the CFTR chloride channel in NATURE
  • 1993-04 The cystic fibrosis mutation (ΔF508) does not influence the chloride channel activity of CFTR in NATURE GENETICS
  • 1993-03 Identification of an Alu retrotransposition event in close proximity to a strong candidate gene for Huntington's disease in NATURE
  • 1993 Studies Toward the Isolation of the RP3 Gene in RETINAL DEGENERATION
  • 1990-07 Identification of sequences of chromosome 7 that are expressed in sweat gland epithelial cells in HUMAN GENETICS
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