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Johanna M. Rommens

Johanna M. Rommens

D-Index & Metrics

Genetics

D-Index
79
Citations
58980
World Ranking
1603
National Ranking
54

Overview

Johanna M. Rommens is affiliated with the University of Toronto in Canada. Their research primarily focuses on Medicine, with significant contributions to Biochemistry, Genetics, and Molecular Biology. Within these fields, they have specialized in Pulmonary and Respiratory Medicine, Genetics, Molecular Biology, Surgery, and Physiology.

The main topics in their work include Cystic Fibrosis Research Advances, Genomics and Rare Diseases, Neonatal Respiratory Health Research, mechanisms involving RNA and protein synthesis, Genetic Associations and Epidemiology, Asthma and respiratory diseases, and the Digestive system and related health.

Rommens has published frequently in venues such as UNC Libraries, Journal of Cystic Fibrosis, bioRxiv (Cold Spring Harbor Laboratory), Genetics in Medicine, and Proceedings of the National Academy of Sciences. These publication venues reflect the range and application of their research in both clinical and molecular genetics contexts.

Some notable recent papers authored or co-authored by Rommens include:

  • LocusFocus: Web-based colocalization for the annotation and functional follow-up of GWAS, 2020, PLoS Computational Biology
  • Positive epistasis between disease-causing missense mutations and silent polymorphism with effect on mRNA translation velocity, 2021, Proceedings of the National Academy of Sciences
  • Cystic fibrosis-related diabetes onset can be predicted using biomarkers measured at birth, 2021, Genetics in Medicine
  • Genetic evidence supports the development of SLC26A9 targeting therapies for the treatment of lung disease, 2022, npj Genomic Medicine
  • Caution advised in the use of CFTR modulator treatment for individuals harboring specific CFTR variants, 2022, Journal of Cystic Fibrosis

Their frequent collaborators include Lisa J. Strug, Naim Panjwani, Jiafen Gong, Julie Avolio, and Garry R. Cutting, reflecting ongoing partnerships that contribute to interdisciplinary research efforts.

Best Publications

  • Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.

    John R. Riordan;Johanna M. Rommens;Bat Sheva Kerem;N. O.A. Alon

  • Identification of the cystic fibrosis gene: genetic analysis.

    Bat Sheva Kerem;Johanna M. Rommens;Janet A. Buchanan;Danuta Markiewicz

  • Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease

    R. Sherrington;E. I. Rogaev;Y. Liang;E. A. Rogaeva

  • Identification of the cystic fibrosis gene: Chromosome walking and jumping

    Johanna M. Rommens;Michael C. Iannuzzi;Bat Sheva Kerem;Mitchell L. Drumm

  • Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene

    E. I. Rogaev;R. Sherrington;E. A. Rogaeva;G. Levesque

  • The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene

    Bull Pc;Thomas Gr;Rommens Jm

  • Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid β-protein in both transfected cells and transgenic mice

    Martin Citron;David Westaway;Weiming Xia;George Carlson

  • Bone progenitor dysfunction induces myelodysplasia and secondary leukaemia

    Marc H. G. P. Raaijmakers;Siddhartha Mukherjee;Shangqin Guo;Siyi Zhang

  • The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds.

    S.V. Tavtigian;J. Simard;J. Rommens;F. Couch

  • De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome.

    Toshinobu Matsuura;James S. Sutcliffe;Ping Fang;Robert-Jan Galjaard

  • Mutations in SBDS are associated with Shwachman–Diamond syndrome

    Graeme R.B. Boocock;Jodi A. Morrison;Maja Popovic;Nicole Richards

  • Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

    Brais B;Bouchard Jp;Xie Yg;Rochefort Dl

  • The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508).

    Eitan Kerem;Mary Corey;Bat-sheva Kerem;Johanna Rommens

  • Correction of the cystic fibrosis defect in vitro by retrovirus-mediated gene transfer.

    Mitchell L. Drumm;Heidi A. Pope;William H. Cliff;Johanna M. Rommens

  • Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly

    E. Belloni;M. Muenke;E. Roessler;G. Traverso

  • Mammographic breast density as an intermediate phenotype for breast cancer

    Norman F Boyd;Johanna M Rommens;Kelly Vogt;Vivian Lee

  • A candidate prostate cancer susceptibility gene at chromosome 17p.

    Sean V. Tavtigian;Jacques Simard;David H F Teng;Vicki Abtin

  • Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

    Julian Zielenski;Richard Rozmahel;Dominique Bozon;Bat sheva Kerem

  • Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene

    Patrick R Sosnay;Karen R Siklosi;Fredrick Van Goor;Kyle Kaniecki;Kyle Kaniecki

  • Genetic determination of exocrine pancreatic function in cystic fibrosis.

    P. Kristidis;D. Bozon;M. Corey;D. Markiewicz

Frequent Co-Authors

Paul E. Fraser
Paul E. Fraser University of Toronto
Peter R. Durie
Peter R. Durie University of Toronto
Lap-Chee Tsui
Lap-Chee Tsui University of Toronto
Batsheva Kerem
Batsheva Kerem Hebrew University of Jerusalem
John R. Riordan
John R. Riordan University of North Carolina at Chapel Hill
Peter St George-Hyslop
Peter St George-Hyslop Columbia University
Garry R. Cutting
Garry R. Cutting Johns Hopkins University School of Medicine
Christine E. Bear
Christine E. Bear University of Toronto
Stephen W. Scherer
Stephen W. Scherer University of Toronto
Francis S. Collins
Francis S. Collins National Institutes of Health

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