Author details

Full Name

Johanna M Rommens

Affiliation

The Hospital for Sick Children

ORCID

Career Start Year

1988

Papers

156

H Index

Expertise

CM4AI Collaborator

Nevan J Krogan (CM4AI)

PMID	Paper Title	Journal Title	Published Year
37024122	Validating organoid-derived human intestinal monolayers for personalized therapy in cystic fibrosis.	Life Sci Alliance	2023
35190293	Expression of cystic fibrosis lung disease modifier genes in human airway models.	J Cyst Fibros	2022
35396391	Genetic evidence supports the development of SLC26A9 targeting therapies for the treatment of lung disease.	NPJ Genom Med	2022
35527187	Caution advised in the use of CFTR modulator treatment for individuals harboring specific CFTR variants.	J Cyst Fibros	2022
33468668	Positive epistasis between disease-causing missense mutations and silent polymorphism with effect on mRNA translation velocity.	Proc Natl Acad Sci U S A	2021
33500570	Cystic fibrosis-related diabetes onset can be predicted using biomarkers measured at birth.	Genet Med	2021
34389817	Correction to: Cystic fibrosis-related diabetes onset can be predicted using biomarkers measured at birth.	Genet Med	2021
33090994	LocusFocus: Web-based colocalization for the annotation and functional follow-up of GWAS.	PLoS Comput Biol	2020
31697830	Genetic Modifiers of Cystic Fibrosis-Related Diabetes Have Extensive Overlap With Type 2 Diabetes and Related Traits.	J Clin Endocrinol Metab	2020
30296588	Screening for Regulatory Variants in 460 kb Encompassing the CFTR Locus in Cystic Fibrosis Patients.	J Mol Diagn	2019
30807572	Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier loci.	PLoS Genet	2019
30888834	Correlating Cystic Fibrosis Transmembrane Conductance Regulator Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis.	Am J Respir Crit Care Med	2019
29581887	Improving imputation in disease-relevant regions: lessons from cystic fibrosis.	NPJ Genom Med	2018
30004386	SLC6A14, an amino acid transporter, modifies the primary CF defect in fluid secretion.	Elife	2018
28062395	Biallelic mutations in <i>DNAJC21</i> cause Shwachman-Diamond syndrome.	Blood	2017
28338721	Mammographic density defined by higher than conventional brightness thresholds better predicts breast cancer risk.	Int J Epidemiol	2017
28649446	Phenotypic profiling of CFTR modulators in patient-derived respiratory epithelia.	NPJ Genom Med	2017
28056084	SBDS-Deficient Cells Have an Altered Homeostatic Equilibrium due to Translational Inefficiency Which Explains their Reduced Fitness and Provides a Logical Framework for Intervention.	PLoS Genet	2017
26087176	Prevalence of meconium ileus marks the severity of mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene.	Genet Med	2016
28171547	Cystic fibrosis gene modifier SLC26A9 modulates airway response to CFTR-directed therapeutics.	Hum Mol Genet	2016
26513347	Bias in CFTR screening panels.	Genet Med	2016
27258095	Sources of Variation in Sweat Chloride Measurements in Cystic Fibrosis.	Am J Respir Crit Care Med	2016
25771386	Variants in Solute Carrier SLC26A9 Modify Prenatal Exocrine Pancreatic Damage in Cystic Fibrosis.	J Pediatr	2015
26496009	Editorial overview: Molecular and genetic bases of disease: Enter the post-GWAS era.	Curr Opin Genet Dev	2015
26417704	Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis.	Nat Commun	2015
26185170	Deficiency of the ribosome biogenesis gene Sbds in hematopoietic stem and progenitor cells causes neutropenia in mice by attenuating lineage progression in myelocytes.	Haematologica	2015
26140448	A Joint Location-Scale Test Improves Power to Detect Associated SNPs, Gene Sets, and Pathways.	Am J Hum Genet	2015
26057580	In Vivo Senescence in the Sbds-Deficient Murine Pancreas: Cell-Type Specific Consequences of Translation Insufficiency.	PLoS Genet	2015
25640674	Gene expression in transformed lymphocytes reveals variation in endomembrane and HLA pathways modifying cystic fibrosis pulmonary phenotypes.	Am J Hum Genet	2015
24057835	Unraveling the complex genetic model for cystic fibrosis: pleiotropic effects of modifier genes on early cystic fibrosis-related morbidities.	Hum Genet	2014
24550193	Evidence for a causal relationship between early exocrine pancreatic disease and cystic fibrosis-related diabetes: a Mendelian randomization study.	Diabetes	2014
23670970	Genetic modifiers of cystic fibrosis-related diabetes.	Diabetes	2013
23974870	Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.	Nat Genet	2013
23705888	Mammographic density and breast cancer: a comparison of related and unrelated controls in the Breast Cancer Family Registry.	Breast Cancer Res	2013
22266113	Mammographic breast density and breast cancer: evidence of a shared genetic basis.	Cancer Res	2012
22510201	Deficiency of Sbds in the mouse pancreas leads to features of Shwachman-Diamond syndrome, with loss of zymogen granules.	Gastroenterology	2012
22532574	Identification of a novel percent mammographic density locus at 12q24.	Hum Mol Genet	2012
22466613	Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis.	Nat Genet	2012
22213587	Breast cancer in a case of Shwachman Diamond syndrome.	Pediatr Blood Cancer	2012
21278746	Common variants in ZNF365 are associated with both mammographic density and breast cancer risk.	Nat Genet	2011
22191555	Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome.	Ann N Y Acad Sci	2011
22188651	A genome-wide linkage study of mammographic density, a risk factor for breast cancer.	Breast Cancer Res	2011
21602797	Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.	Nat Genet	2011
21084708	Sbds is required for Rac2-mediated monocyte migration and signaling downstream of RANK during osteoclastogenesis.	Blood	2011
20007542	Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene.	Blood	2010
20512054	Evidence of a generalized defect of acinar cell function in Shwachman-Diamond syndrome.	J Pediatr Gastroenterol Nutr	2010
20305640	Bone progenitor dysfunction induces myelodysplasia and secondary leukaemia.	Nature	2010
19906387	The behavioral phenotype of school-age children with shwachman diamond syndrome indicates neurocognitive dysfunction with loss of Shwachman-Bodian-Diamond syndrome gene function.	J Pediatr	2010
18988861	Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes.	Blood	2009
19602484	Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses.	Hum Mol Genet	2009

1 - 50 of 156

Alexandre Montpetit

McGill University and Genome Quebec Innovation Centre

Career Start Year 1998

Number of shared co-authors 11

Kimberly F Doheny

Center for Inherited Disease Research, Johns Hopkins School of Medicine

Career Start Year 1993

Number of shared co-authors 24

Arnaud Gos

Centre Medical Universitaire

Career Start Year 1992

Number of shared co-authors 1

Yasushi Okazaki

Intractable Disease Research Center, Graduate School of Medicine, Juntendo University

Career Start Year 1989

Number of shared co-authors 5

Han G Brunner

Maastricht University Medical Centre

Career Start Year 1987

Number of shared co-authors 10

Steven E Scherer

Baylor College of Medicine

Career Start Year 1987

Number of shared co-authors 20

Richard A Gibbs

Baylor College of Medicine

Career Start Year 1987

Number of shared co-authors 32

Eric S Lander

Vanderbilt-Ingram Cancer Center, Vanderbilt University

Career Start Year 1986

Number of shared co-authors 17

John D McPherson

Ontario Institute for Cancer Research

Career Start Year 1986

Number of shared co-authors 13

Jiannis Ragoussis

McGill University

Career Start Year 1986

Number of shared co-authors 10

Eric D Green

National Human Genome Research Institute, National Institutes of Health

Career Start Year 1984

Number of shared co-authors 20

Murray H Brilliant

Marshfield Clinic Research Institute

Career Start Year 1983

Number of shared co-authors 10

Settara C Chandrasekharappa

National Institutes of Health

Career Start Year 1983

Number of shared co-authors 6

Thomas C Markello

National Institutes of Health

Career Start Year 1982

Number of shared co-authors 0

David R Bentley

Illumina Cambridge Ltd.

Career Start Year 1982

Number of shared co-authors 14

Thomas Meitinger

Technical University of Munich, Institute of Human Genetics

Career Start Year 1982

Number of shared co-authors 21

Johan T den Dunnen

Leiden University Medical Center

Career Start Year 1982

Number of shared co-authors 8

James R Lupski

Baylor College of Medicine

Career Start Year 1981

Number of shared co-authors 18

Richard M Myers

HudsonAlpha Institute for Biotechnology

Career Start Year 1980

Number of shared co-authors 17

Val C Sheffield

Carver College of Medicine, University of Iowa

Career Start Year 1980

Number of shared co-authors 11

John W Belmont

Baylor College of Medicine

Career Start Year 1979

Number of shared co-authors 9

Robert L Nussbaum

Invitae Corporation

Career Start Year 1976

Number of shared co-authors 21

Julie R Korenberg

University of Utah

Career Start Year 1974

Number of shared co-authors 7

John A Phillips

Vanderbilt University Medical Center

Career Start Year 1974

Number of shared co-authors 7

Asl??han Tolun

Istanbul Technical University

Career Start Year 1974

Number of shared co-authors 2

Alan F Scott

Johns Hopkins University School of Medicine

Career Start Year 1972

Number of shared co-authors 8

Jean Weissenbach

Institut Francois Jacob, CNRS, Universite Paris-Saclay

Career Start Year 1972

Number of shared co-authors 22

David R Cox

Rinat (Pfizer Inc.)

Career Start Year 1971

Number of shared co-authors 16

Jacques S Beckmann

University of Lausanne

Career Start Year 1970

Number of shared co-authors 17

Mark F Leppert

University of Utah

Career Start Year 1968

Number of shared co-authors 15

row(s) 1 - 30 of 30

Lap-Chee Tsui

The University of Hong Kong

Co-authored papers 33

Garry R Cutting

Johns Hopkins University School of Medicine

Co-authored papers 16

Stephen W Scherer

The Hospital for Sick Children

Co-authored papers 13

Andrew D Paterson

The Hospital for Sick Children

Co-authored papers 10

Norman F Boyd

Co-authored papers 7

Fergus J Couch

Mayo Clinic

Co-authored papers 6

Peter St George-Hyslop

Cambridge Institute for Medical Research, University of Cambridge

Co-authored papers 6

Fred A Wright

Co-authored papers 5

Wanda K O'Neal

Co-authored papers 5

Jennifer Stone

Co-authored papers 5

Michelle Huckaby Lewis

Berman Institute of Bioethics, Johns Hopkins University

Co-authored papers 4

Michael R Hayden

Co-authored papers 4

Guy A Rouleau

McGill University, Canada Montreal Neurological Institute and Hospital

Co-authored papers 3

Evgeny I Rogaev

Co-authored papers 3

Christopher G Scott

Mayo Clinic

Co-authored papers 3

Douglas F Easton

University of Cambridge

Co-authored papers 3

Per Hall

Co-authored papers 3

Nicholas J Wareham

Co-authored papers 3

Ruth J F Loos

Co-authored papers 3

Wei Sun

Co-authored papers 2

Yi-Hui Zhou

Co-authored papers 2

Susan E Hankinson

Co-authored papers 2

Esther M John

Co-authored papers 2

Russell Bell

Huntsman Cancer Institute at the University of Utah

Co-authored papers 2

Arthur L Beaudet

Baylor College of Medicine

Co-authored papers 2

Francis S Collins

University of Michigan ann arbor

Co-authored papers 2

Robert Luben

Co-authored papers 2

Elaine H Zackai

Children's Hospital of Philadelphia

Co-authored papers 2

Barbara L Weber

Basser Center for BRCA, Abramson Cancer Center, University of Pennsylvania

Co-authored papers 2

Rune R Frants

Co-authored papers 2

1 - 30

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