Johanna M Rommens

Johanna M Rommens

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Johanna M Rommens

Johanna M Rommens

Publications by authors named "Johanna M Rommens"

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42Publications

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Prevalence of meconium ileus marks the severity of mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene.

Genet Med 2016 Apr 18;18(4):333-40. Epub 2015 Jun 18.

Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1038/gim.2015.79DOI Listing
April 2016

Bias in CFTR screening panels.

Genet Med 2016 Feb 29;18(2):209. Epub 2015 Oct 29.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2015.105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4816068PMC
February 2016

A Joint Location-Scale Test Improves Power to Detect Associated SNPs, Gene Sets, and Pathways.

Am J Hum Genet 2015 Jul;97(1):125-38

Division of Biostatistics, Dalla Lana School of Public Health, University of Toronto, Toronto, ON M5T 3M7, Canada; Department of Statistical Sciences, University of Toronto, Toronto, ON M5S 3G3, Canada. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(15)00201-3.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971500201
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http://dx.doi.org/10.1016/j.ajhg.2015.05.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4572492PMC
July 2015

In Vivo Senescence in the Sbds-Deficient Murine Pancreas: Cell-Type Specific Consequences of Translation Insufficiency.

PLoS Genet 2015 Jun 9;11(6):e1005288. Epub 2015 Jun 9.

Program in Genetics & Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Canada.

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http://dx.doi.org/10.1371/journal.pgen.1005288DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4461263PMC
June 2015

Variants in Solute Carrier SLC26A9 Modify Prenatal Exocrine Pancreatic Damage in Cystic Fibrosis.

J Pediatr 2015 May 11;166(5):1152-1157.e6. Epub 2015 Mar 11.

Program in Genetics and Genome Biology, the Hospital for Sick Children, Toronto, Ontario, Canada; Division of Biostatistics, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2015.01.044DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4530786PMC
May 2015

Evidence for a causal relationship between early exocrine pancreatic disease and cystic fibrosis-related diabetes: a Mendelian randomization study.

Diabetes 2014 Jun 18;63(6):2114-9. Epub 2014 Feb 18.

Program in Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Ontario, CanadaDivision of Biostatistics, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada

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http://dx.doi.org/10.2337/db13-1464DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4030111PMC
June 2014

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

Nat Genet 2013 Oct 25;45(10):1160-7. Epub 2013 Aug 25.

1] Department of Medicine, Johns Hopkins University, Baltimore, Maryland, USA. [2] Perdana University Graduate School of Medicine, Serdang, Malaysia. [3] McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA.

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http://dx.doi.org/10.1038/ng.2745DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3874936PMC
October 2013

Breast cancer in a case of Shwachman Diamond syndrome.

Pediatr Blood Cancer 2012 Nov 27;59(5):945-6. Epub 2011 Dec 27.

Division of Hematology/Oncology and Stem Cell Transplantation, Steven and Alexandra Cohen Children's Medical Center of New York, New Hyde Park, New York 11040, USA.

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http://dx.doi.org/10.1002/pbc.24052DOI Listing
November 2012

Deficiency of Sbds in the mouse pancreas leads to features of Shwachman-Diamond syndrome, with loss of zymogen granules.

Gastroenterology 2012 Aug 14;143(2):481-92. Epub 2012 Apr 14.

Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1053/j.gastro.2012.04.012DOI Listing
August 2012

Evidence of a generalized defect of acinar cell function in Shwachman-Diamond syndrome.

J Pediatr Gastroenterol Nutr 2010 Jul;51(1):8-13

Division of Gastroenterology, Hepatology, and Nutrition, University of Toronto, Canada.

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https://insights.ovid.com/crossref?an=00005176-201007000-000
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http://dx.doi.org/10.1097/MPG.0b013e3181d67e78DOI Listing
July 2010

Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses.

Hum Mol Genet 2009 Oct 14;18(19):3684-95. Epub 2009 Jul 14.

Program in Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada.

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http://dx.doi.org/10.1093/hmg/ddp316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2742402PMC
October 2009

Mammographic density: a heritable risk factor for breast cancer.

Methods Mol Biol 2009 ;472:343-60

The Campbell Family Institute for Breast Cancer Research, Ontario Cancer Institute, Toronto, Canada.

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http://dx.doi.org/10.1007/978-1-60327-492-0_15DOI Listing
January 2009

Loss of the mouse ortholog of the shwachman-diamond syndrome gene (Sbds) results in early embryonic lethality.

Mol Cell Biol 2006 Sep;26(17):6656-63

Research Institute, Program in Genetics and Genomic Biology, Room 15-313 TMDT, 101 College Street, East Tower, Toronto, Ontario M5G 1L7, Canada.

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http://dx.doi.org/10.1128/MCB.00091-06DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1592835PMC
September 2006

Human homologs of Ubc6p ubiquitin-conjugating enzyme and phosphorylation of HsUbc6e in response to endoplasmic reticulum stress.

J Biol Chem 2006 Jul 23;281(30):21480-90. Epub 2006 May 23.

Department of Molecular and Medical Genetics, University of Toronto, Ontario, Canada.

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http://dx.doi.org/10.1074/jbc.M601843200DOI Listing
July 2006

Mammographic breast density as an intermediate phenotype for breast cancer.

Lancet Oncol 2005 Oct;6(10):798-808

Campbell Family Institute for Breast Cancer Research, Ontario Cancer Institute, Toronto, Canada.

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https://linkinghub.elsevier.com/retrieve/pii/S14702045057039
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http://dx.doi.org/10.1016/S1470-2045(05)70390-9DOI Listing
October 2005

Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome.

J Biol Chem 2005 May 8;280(19):19221-9. Epub 2005 Feb 8.

Medical Research Council Laboratory of Molecular Biology, Cambridge CB2 2QH, United Kingdom.

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http://dx.doi.org/10.1074/jbc.M414656200DOI Listing
May 2005

Human chromosome 7: DNA sequence and biology.

Science 2003 May 10;300(5620):767-72. Epub 2003 Apr 10.

Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8.

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http://dx.doi.org/10.1126/science.1083423DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2882961PMC
May 2003

Mutations in SBDS are associated with Shwachman-Diamond syndrome.

Nat Genet 2003 Jan 23;33(1):97-101. Epub 2002 Dec 23.

Program in Genetics and Genomic Biology, Room 11-109A, Elm Wing Annex, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada.

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http://dx.doi.org/10.1038/ng1062DOI Listing
January 2003