J. Rommens

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

L. Tsui, F. Collins, J. Riordan, 1989, Science.

Erratum: Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA

L. Tsui, F. Collins, J. Riordan, 1989, Science.

A systematic analysis of intronic sequences downstream of 5' splice sites reveals a widespread role for U-rich motifs and TIA1/TIAL1 proteins in alternative splicing regulation.

B. Frey, L. Tsui, Y. Barash, 2008, Genome research.

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

George P Patrinos, Rachel Karchin, David L. Masica, 2013, Nature Genetics.

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

L. Tsui, J. Riordan, J. Rommens, 1991, Genomics.

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

D. Pollen, J. Haines, M. Pericak-Vance, 1995, Nature.

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

J. Rommens, J. Bouchard, B. Brais, 1998, Nature Genetics.

Identification of the cystic fibrosis gene: chromosome walking and jumping.

L. Tsui, F. Collins, J. Riordan, 1989, Science.

Erratum: Identification of the Cystic Fibrosis Gene: Genetic Analysis

L. Tsui, J. Rommens, B. Kerem, 1989, Science.

Identification of the cystic fibrosis gene: genetic analysis.

L. Tsui, J. Rommens, B. Kerem, 1989, Science.

Mammographic breast density as an intermediate phenotype for breast cancer.

A. Paterson, J. Rommens, N. Boyd, 2005, The Lancet. Oncology.

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

Weiming Xia, Paul Fraser, J. Rommens, 1997, Nature Medicine.

Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis

Michael R Knowles, Pierre-Yves Boëlle, Fred A Wright, 2012, Nature Genetics.

Generation of a transcription map at the HSD17B locus centromeric to BRCA1 at 17q21.

J. Rommens, P. Tonin, S. Narod, 1995, Genomics.

Positional cloning of ZNF217 and NABC1: genes amplified at 20q13.2 and overexpressed in breast carcinoma.

J W Gray, D Pinkel, J Isola, 1998, Proceedings of the National Academy of Sciences of the United States of America.

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

Mitchell L. Drumm, Johanna M. Rommens, L. Tsui, 1990, Cell.

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly

C. Helms, E. Belloni, E. Roessler, 1996, Nature Genetics.

Mutations in SBDS are associated with Shwachman–Diamond syndrome

Johanna M. Rommens, J. Rommens, P. Durie, 2003, Nature Genetics.

The Shwachman-Bodian-Diamond Syndrome Protein Family Is Involved in RNA Metabolism*

T. Hughes, J. Rommens, N. Krogan, 2005, Journal of Biological Chemistry.

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

A. Paterson, J. Rommens, P. Böelle, 2015, American journal of human genetics.

Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.

S. Scherer, J. Rommens, E. Héon, 2017, Blood.

Presenilins Interact with Armadillo Proteins Including Neural‐Specific Plakophilin‐Related Protein and β‐Catenin

J. Rommens, C. Strader, P. Fraser, 1999, Journal of neurochemistry.

Evidence for a Causal Relationship Between Early Exocrine Pancreatic Disease and Cystic Fibrosis–Related Diabetes: A Mendelian Randomization Study

Melissa R. Miller, J. Rommens, L. Strug, 2014, Diabetes.

Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families

J. Rommens, M. Skolnick, P. Tonin, 1994, Nature Genetics.

Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar.

M. Corey, J. Rommens, L. Heitlinger, 1999, The Journal of pediatrics.

Segregation analysis in Shwachman-Diamond syndrome: evidence for recessive inheritance.

M. Corey, J. Rommens, P. Durie, 2000, American journal of human genetics.

Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7.

T. Hudson, J. Rommens, P. Durie, 2001, American journal of human genetics.

SBDS-Deficient Cells Have an Altered Homeostatic Equilibrium due to Translational Inefficiency Which Explains their Reduced Fitness and Provides a Logical Framework for Intervention

J. Rommens, F. Khanim, C. Gorrini, 2017, PLoS genetics.

Rapid nonradioactive detection of the major cystic fibrosis mutation.

L. Tsui, J. Rommens, B. Kerem, 1990, American journal of human genetics.

Phosphatase inhibitors activate normal and defective CFTR chloride channels.

L. Tsui, J. Rommens, M. Buchwald, 1994, Proceedings of the National Academy of Sciences of the United States of America.

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

D Markiewicz, M. Corey, L. Tsui, 1990, The New England journal of medicine.

Phenotypic profiling of CFTR modulators in patient-derived respiratory epithelia

J. Rommens, J. Rossant, J. Forman-Kay, 2017, npj Genomic Medicine.

Gene de predisposition au cancer du sein lie au chromosome 13

J. Rommens, F. Couch, B. Weber, 1996 .

Chromosomal localization of the human liver form cytochrome c oxidase subunit VIIa gene.

J. Rommens, A. Duncan, G. Mitchell, 1997, Genome.

Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene

J. Rommens, P. Durie, G. Boocock, 2002, European Journal of Human Genetics.

Cloning of a new gene (FB19) within HLA class I region.

J. Rommens, P. Gasparini, M. Carella, 1998, Biochemical and biophysical research communications.

Genomic organization of the human α-adducin gene and its alternately spliced isoforms

J. Rommens, M. Hayden, H. McDonald, 1995 .

LocusFocus: A web-based colocalization tool for the annotation and functional follow-up of GWAS

J. Rommens, L. Strug, Lei Sun, 2020, bioRxiv.

Deficiency of the ribosome biogenesis gene Sbds in hematopoietic stem and progenitor cells causes neutropenia in mice by attenuating lineage progression in myelocytes

J. Rommens, M. Raaijmakers, M. Sanders, 2015, Haematologica.

Positive epistasis between disease-causing missense mutations and silent polymorphism with effect on mRNA translation velocity

J. Rommens, Z. Ignatova, L. Strug, 2021, Proceedings of the National Academy of Sciences.

LocusFocus: Web-based colocalization for the annotation and functional follow-up of GWAS

J. Rommens, L. Strug, Lei Sun, 2020, PLoS Comput. Biol..

Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.

F. Collins, J. Riordan, J. Rommens, 1990, Proceedings of the National Academy of Sciences of the United States of America.

Sbds is required for Rac2-mediated monocyte migration and signaling downstream of RANK during osteoclastogenesis.

J. Rommens, M. Glogauer, Yongqiang Wang, 2011, Blood.

Cloning and characterization of two cytoplasmic dynein intermediate chain genes in mouse and human.

S. Scherer, L. Tsui, J. Rommens, 1999, Genomics.

The cystic fibrosis mutation (delta F508) does not influence the chloride channel activity of CFTR.

J. Rommens, T. Jensen, C. Bear, 1993, Nature genetics.

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

J. Rommens, P. Durie, Jian Zhong, 2012, Gastroenterology.

Generation of a transcription map of a 1 Mbase region containing the HFE gene (6p22)

J. Rommens, P. Gasparini, M. Carella, 1998, European Journal of Human Genetics.

Draft consensus guidelines for diagnosis and treatment of Shwachman‐Diamond syndrome

J. Rommens, T. Kuijpers, Johnson M Liu, 2011, Annals of the New York Academy of Sciences.

Shwachman-Diamond syndrome: report from an international conference.

J. Rommens, B. Alter, P. Durie, 2002, The Journal of pediatrics.

Chromosomal localization of the human homeo box-containing genes, EN1 and EN2.

H. Willard, J. Rommens, A. Joyner, 1989, Genomics.

ClC-2 Contributes to Native Chloride Secretion by a Human Intestinal Cell Line, Caco-2*

J. Rommens, C. Bear, Canhui Li, 2001, The Journal of Biological Chemistry.

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

Ping Fang, Johanna M. Rommens, James S. Sutcliffe, 1997, Nature Genetics.

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

J. Rommens, A. Thomas, M. Skolnick, 1996, Nature Genetics.

Evidence of a Generalized Defect of Acinar Cell Function in Shwachman-Diamond Syndrome

J. Rommens, P. Durie, M. Stormon, 2010, Journal of pediatric gastroenterology and nutrition.

Bias in CFTR screening panels

M. Corey, J. Rommens, G. Cutting, 2015, Genetics in Medicine.

De Novo Mutations Causing Shwachman-Diamond Syndrome and a Founder Mutation in SBDS in the French Canadian Population

J. Rommens, T. Stockley, P. Ray, 2014 .

De Novo Mutations Causing Shwachman-Diamond Syndrome and a Founder Mutation in SBDS in the

J. Rommens, T. Stockley, P. Ray, 2014 .

Refined localization and yeast artificial chromosome (YAC) contig--mapping of genes and DNA segments in the 7q21-q32 region.

S. Scherer, L. Tsui, J. Rommens, 1993, Human molecular genetics.

Correlating Cystic Fibrosis Transmembrane Conductance Regulator Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis

M. Corey, J. Rommens, G. Cutting, 2019, American journal of respiratory and critical care medicine.

Physical localization of two DNA markers closely linked to the cystic fibrosis locus by pulsed-field gel electrophoresis.

L. Tsui, J. Rommens, B. Kerem, 1989, American journal of human genetics.

Cystic fibrosis gene modifier SLC26A9 modulates airway response to CFTR-directed therapeutics

J. Rommens, P. Böelle, L. Strug, 2016, Human molecular genetics.

Effects of Glucocorticoid Immunosuppression on Se- rum Cystatin C Concentrations in Renal Transplant

L. Tsui, J. Rommens, A. Chakravarti, 2001 .

Correlating CFTR Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis

M. Corey, J. Rommens, G. Cutting, 2019 .

Breast cancer in a case of Shwachman Diamond syndrome

J. Rommens, A. Shimamura, J. Lipton, 2012, Pediatric blood & cancer.

The XRCC2 DNA repair gene: identification of a positional candidate.

S. Scherer, L. Tsui, J. Rommens, 1997, Genomics.

Differential 3' polyadenylation of the Huntington disease gene results in two mRNA species with variable tissue expression.

J. Rommens, M. Hayden, Y. P. Goldberg, 1993, Human molecular genetics.

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

J. Rommens, D. Cox, J. Forbes, 1993, Nature Genetics.

Genetic Modifiers of Cystic Fibrosis–Related Diabetes

J. Rommens, M. Drumm, F. Wright, 2013, Diabetes.

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

E. Shoubridge, J. Rommens, H. Antonicka, 2006, Nature Genetics.

Identification of the Cystic Fibrosis Gene : Chromosome Walking and Jumping Author ( s ) :

J. Riordan, J. Rommens, B. Kerem, 2008 .

Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development.

S. Scherer, L. Tsui, J. Rommens, 1996, Human molecular genetics.

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

Melissa R. Miller, J. Rommens, M. Drumm, 2015, The Journal of pediatrics.

The Chloride Channel ClC-4 Co-localizes with Cystic Fibrosis Transmembrane Conductance Regulator and May Mediate Chloride Flux across the Apical Membrane of Intestinal Epithelia*

J. Rommens, C. Ackerley, C. Bear, 2002, The Journal of Biological Chemistry.

A candidate prostate cancer susceptibility gene at chromosome 17p

Siavash Ghaffari, Alun Thomas, Nicola J. Camp, 2001, Nature Genetics.

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

J. Rommens, C. Guidos, P. Durie, 2015, PLoS genetics.

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

J. Rommens, Jing Li, J. Myers, 2009, Human molecular genetics.

Shwachman-Diamond syndrome is associated with low-turnover osteoporosis.

J. Rommens, O. Mäkitie, W. Cole, 2007, Bone.

Loss of the Mouse Ortholog of the Shwachman-Diamond Syndrome Gene (Sbds) Results in Early Embryonic Lethality

J. Rommens, C. Hui, Mingjun Shi, 2006, Molecular and Cellular Biology.

Phylogeny, sequence conservation, and functional complementation of the SBDS protein family.

J. Rommens, G. Boocock, M. Marit, 2006, Genomics.

Structural and Mutational Analysis of the SBDS Protein Family

J. Rommens, A. Warren, B. Goyenechea, 2005, Journal of Biological Chemistry.

Permeability of Wild-Type and Mutant Cystic Fibrosis Transmembrane Conductance Regulator Chloride Channels to Polyatomic Anions

L. Tsui, J. Riordan, J. Rommens, 1997, The Journal of general physiology.

megakaryocytes activator gene (PLAU) and increases expression of the linked allele in Quebec platelet disorder is linked to the urokinase plasminogen

A. Paterson, J. Rommens, D. Bulman, 2013 .

Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes.

A. Paterson, J. Rommens, D. Bulman, 2009, Blood.

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

J. Rommens, R. Sherrington, E. Rogaev, 1995, Nature.

Genetic evidence supports the development of SLC26A9 targeting therapies for the treatment of lung disease

J. Rommens, L. Strug, Lei Sun, 2022, npj Genomic Medicine.

Genetic evidence supports the development of SLC26A9 targeting therapies for the treatment of lung disease

J. Rommens, L. Strug, Lei Sun, 2021, medRxiv.

Screening for Regulatory Variants in 460 kb Encompassing the CFTR Locus in Cystic Fibrosis Patients.

J. Rommens, H. Ishiguro, C. Férec, 2019, The Journal of molecular diagnostics : JMD.

SLC6A14, an amino acid transporter, modifies the primary CF defect in fluid secretion

J. Rommens, K. Du, C. Bear, 2018, eLife.

BRCA2 germline mutations in male breast cancer cases and breast cancer families

J. Rommens, F. Couch, B. Weber, 1996, Nature Genetics.

GABA (gamma-amino-butyric acid) neurotransmission: identification and fine mapping of the human GABAB receptor gene.

J. Rommens, P. Gasparini, M. Carella, 1998, Biochemical and biophysical research communications.

Bone progenitor dysfunction induces myelodysplasia and secondary leukemia

Charles P. Lin, J. Rommens, B. Ebert, 2010, Nature.

Cystic fibrosis–related diabetes onset can be predicted using biomarkers measured at birth

J. Rommens, L. Strug, G. Cutting, 2021, Genetics in Medicine.

Genetic modifiers of cystic fibrosis-related diabetes have extensive overlap with type 2 diabetes and related traits.

J. Rommens, M. Drumm, E. Pugh, 2019, The Journal of clinical endocrinology and metabolism.

Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier loci

J. Rommens, M. Drumm, L. Strug, 2019, PLoS genetics.

Improving imputation in disease-relevant regions: lessons from cystic fibrosis

J. Rommens, L. Strug, Lizhen Xu, 2018, npj Genomic Medicine.

Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis

J. Rommens, M. Drumm, F. Wright, 2015, Nature Communications.

CHARACTERIZATION OF ZHX 1 IN AXILLARY LYMPH NODE-NEGATIVE BREAST CANCER

J. Rommens, A. Mulligan, S. Tchatchou, 2012 .

A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36.

S W Scherer, S. Scherer, M. V. van Baren, 1999, Genomics.

Amplification of CFTR exon 9 sequences to multiple locations in the human genome.

H. Heng, L. Tsui, J. Rommens, 1997, Genomics.

Mammographic density defined by higher than conventional brightness thresholds better predicts breast cancer risk

J. Rommens, G. Giles, J. Hopper, 2016, International journal of epidemiology.

Cloning and Characterization of PDK4 on 7q21.3 Encoding a Fourth Pyruvate Dehydrogenase Kinase Isoenzyme in Human*

K. M. Popov, S. Scherer, L. Tsui, 1996, The Journal of Biological Chemistry.

Studies Toward the Isolation of the RP3 Gene

J. Rommens, A. Roux, M. Musarella, 1993 .

Physical mapping at a potential X-linked retinitis pigmentosa locus (RP3) by pulsed-field gel electrophoresis.

J. Rommens, R. Worton, M. Musarella, 1991, Genomics.

Isolation of clones on chromosome 7 that contain recognition sites for rare-cutting enzymes by oligonucleotide hybridization.

L. Tsui, J. Rommens, G. Melmer, 1990, Genomics.

Search for the FSHD gene using cDNA selection in a region spanning 100 kb on chromosome 4q35

C. Wijmenga, J. Rommens, R. Frants, 1995, Muscle & nerve. Supplement.

Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients.

S. Scherer, H. Heng, L. Tsui, 1996, Genomics.

Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene.

A. Paterson, J. Rommens, I. Wong, 2010, Blood.

An Alu element retroposition in two families with Huntington disease defines a new active Alu subfamily.

J. Rommens, M. Hayden, H. McDonald, 1993, Nucleic acids research.

Presenilin Proteins and the Pathogenesis of Early-Onset Familial Alzheimer’s Disease: β-Amyloid Production and Parallels to Prion Diseases

J. Rommens, J. Roder, R. Sherrington, 1998 .

Analysis of the 5' sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer disease.

P E Fraser, J. Rommens, P. D. de Jong, 1997, Genomics.

Genetic sequences and proteins related to alzheimer's disease, and uses therefor

J. Rommens, P. Fraser, H. Peter, 1997 .

Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant.

J. Rommens, Y. Agid, R. Sherrington, 1996, Human molecular genetics.

A transcription map of the region containing the Huntington disease gene.

J. Rommens, J. Mcarthur, S. Andrew, 1993, Human molecular genetics.

The cystic fibrosis mutation (ΔF508) does not influence the chloride channel activity of CFTR

Johanna M. Rommens, Canhui Li, Christine E. Bear, 1993, Nature Genetics.

Expression of the cystic fibrosis gene in non-epithelial invertebrate cells produces a regulated anion conductance

L. Tsui, J. Riordan, J. Rommens, 1991, Cell.

Mammographic breast density and breast cancer: evidence of a shared genetic basis.

Nazneen Rahman, Kyriaki Michailidou, Kamila Czene, 2012, Cancer research.

Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome.

S. Scherer, L. Tsui, J. Rommens, 1997, Human molecular genetics.

Erratum: Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

E. Shoubridge, J. Rommens, H. Antonicka, 2006, Nature Genetics.

ATPase Activity of the Cystic Fibrosis Transmembrane Conductance Regulator*

J. Rommens, Wei Wang, C. Bear, 1996, The Journal of Biological Chemistry.

Human Chromosome 7: DNA Sequence and Biology

Junjun Zhang, Nazneen Rahman, Alexander K. Hudek, 2003, Science.

Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1

J. Rommens, F. Andermann, J. Janszky, 1997, Nature Genetics.

Exclusion of linkage of Shwachman-Diamond syndrome to chromosome regions 6q and 12q implicated by a de novo translocation.

M. Corey, J. Rommens, M. Masuno, 1999, American journal of medical genetics.

Multi-ion pore behaviour in the CFTR chloride channel

L. Tsui, J. Riordan, J. Rommens, 1993, Nature.

Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X

L. Tsui, B. Blencowe, J. Rommens, 2007, Journal of Medical Genetics.

Title Exon skipping through the creation of a putative exonic splicingsilencer as a consequence of the cystic fibrosis mutation R 553 X

B. Blencowe, J. Rommens, J. Zieleński, 2007 .

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

E. Zackai, J. Rommens, T. Wiltshire, 1999, Nature Genetics.

Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria.

Aaron D. Wilson, S. Scherer, H. Heng, 1998, Proceedings of the National Academy of Sciences of the United States of America.

Identification and regional localization of DNA markers on chromosome 7 for the cloning of the cystic fibrosis gene.

J. Rommens, B. Kerem, R. Rozmahel, 1988, American journal of human genetics.

Serum pancreatic enzymes define the pancreatic phenotype in patients with Shwachman-Diamond syndrome.

M. Corey, J. Rommens, P. Durie, 2002, The Journal of pediatrics.

Towards a Transcriptional Map of the q21-q22 Region of Chromosome 7

S. Scherer, L. Tsui, J. Rommens, 1994 .

Genomic structure of the human GT334 (EHOC-1) gene mapping to 21q22.3.

J. Rommens, M. Dubé, G. Rouleau, 1997, Gene.

Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2

Fred A. Wright, Fei Zou, Clayton W. Commander, 2011, Nature Genetics.

Gene expression in transformed lymphocytes reveals variation in endomembrane and HLA pathways modifying cystic fibrosis pulmonary phenotypes.

L. Liang, J. Rommens, M. Drumm, 2015, American journal of human genetics.

DNA amplification for detection of the XV-2c polymorphism linked to cystic fibrosis.

L. Tsui, A. Beaudet, J. Rommens, 1989, Nucleic acids research.

Identification of an Alu retrotransposition event in close proximity to a strong candidate gene for Huntington's disease

J. Rommens, M. Hayden, H. McDonald, 1993, Nature.

Transcription mapping and expression analysis of candidate genes in the vicinity of the mouse Loop-tail mutation

J. Rommens, K. Vogan, P. Gros, 2000, Mammalian Genome.

Progress towards cloning the cystic fibrosis gene.

L. Tsui, J. Riordan, J. Rommens, 1988, Philosophical transactions of the Royal Society of London. Series B, Biological sciences.

Identification of ATP7B

Diane W. Cox, Peter C. Bull, Johanna M. Rommens, 2019, Clinical and Translational Perspectives on WILSON DISEASE.

Determinants of the Nuclear Localization of the Heterodimeric DNA Fragmentation Factor (Icad/Cad)

J. Rommens, R. Kinach, G. Lukács, 2000, The Journal of cell biology.

Unraveling the complex genetic model for cystic fibrosis: pleiotropic effects of modifier genes on early cystic fibrosis-related morbidities

Theodore Chiang, Lisa J. Strug, Jiafen Gong, 2013, Human Genetics.

Caution advised in the use of CFTR modulator treatment for individuals harboring specific CFTR variants.

M. Corey, J. Rommens, M. Lewis, 2022, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

SLC 6 A 14 , an amino acid transporter , modifies the primary 1 CF defect in fluid secretion . 2

J. Rommens, K. Du, C. Bear, 2022 .

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

Lisa J Strug, Ruslan Dorfman, J. Rommens, 2015, Genetics in Medicine.

Expression of cystic fibrosis lung disease modifier genes in human airway models.

J. Rommens, L. Strug, S. Keshavjee, 2022, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Cystic Fibrosis Mutations Lead to Carboxyl-terminal Fragments That Highlight an Early Biogenesis Step of the Cystic Fibrosis Transmembrane Conductance Regulator*

J. Rommens, G. Lukács, M. van Oene, 2000, The Journal of Biological Chemistry.

A cystic fibrosis lung disease modifier locus harbors tandem repeats associated with gene expression

Gong, Cheng, Anat, 2022, medRxiv.

Identification of a novel percent mammographic density locus at 12q24.

David N. Rider, A. Paterson, R. Vierkant, 2012, Human molecular genetics.

Mammographic density: a heritable risk factor for breast cancer.

John L Hopper, Martin J Yaffe, Jennifer Stone, 2009, Methods in molecular biology.

Identification of sequences of chromosome 7 that are expressed in sweat gland epithelial cells

J. Riordan, J. Rommens, M. Buchwald, 1990, Human Genetics.

Improving imputation in disease-relevant regions: lessons from cystic fibrosis

S. Scherer, J. Rommens, M. Drumm, 2018, npj Genomic Medicine.

The behavioral phenotype of school-age children with shwachman diamond syndrome indicates neurocognitive dysfunction with loss of Shwachman-Bodian-Diamond syndrome gene function.

J. Rommens, P. Durie, E. Kerr, 2010, The Journal of pediatrics.

Genetic determination of exocrine pancreatic function in cystic fibrosis.

M. Corey, L. Tsui, J. Rommens, 1992, American journal of human genetics.

Isolation and characterization of GT335, a novel human gene conserved in Escherichia coli and mapping to 21q22.3.

J. Rommens, G. Rouleau, E. Andermann, 1996, Genomics.

Genetic Determination ofExocrine Pancreatic Function inCystic Fibrosis

L. Tsui, J. Rommens, 1992 .

Hereditary hemochromatosis: generation of a transcription map within a refined and extended map of the HLA class I region.

J. Rommens, P. Gasparini, M. Carella, 1996, Genomics.

Sources of Variation in Sweat Chloride Measurements in Cystic Fibrosis.

J. Rommens, P. Boelle, L. Strug, 2016, American journal of respiratory and critical care medicine.

Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

L. Tsui, J. Rommens, B. Kerem, 1991, Genomics.

DNA marker haplotype association with pancreatic sufficiency in cystic fibrosis.

M. Corey, L. Tsui, J. Rommens, 1989, American journal of human genetics.

Validating organoid-derived human intestinal monolayers for personalized therapy in cystic fibrosis

J. Rommens, L. Strug, C. Bear, 2023, Life Science Alliance.

Phenotypic profiling of CFTR modulators in patient-derived respiratory epithelia

J. Rommens, J. Rossant, J. Forman-Kay, 2017, npj Genomic Medicine.

Human Homologs of Ubc6p Ubiquitin-conjugating Enzyme and Phosphorylation of HsUbc6e in Response to Endoplasmic Reticulum Stress*

J. Rommens, Johanna M Rommens, Ray S Oh, 2006, Journal of Biological Chemistry.

cAMP-inducible chloride conductance in mouse fibroblast lines stably expressing the human cystic fibrosis transmembrane conductance regulator.

L. Tsui, J. Riordan, J. Rommens, 1991, Proceedings of the National Academy of Sciences of the United States of America.

Identification of a gene from Xp21 with similarity to the tctex-1 gene of the murine t complex.

Stephen H. Bell, J. Rommens, G. Fishman, 1994, Human molecular genetics.

Unraveling the complex genetic model for cystic fibrosis: pleiotropic effects of modifier genes on early cystic fibrosis-related morbidities

Melissa R. Miller, J. Rommens, L. Strug, 2014, Human Genetics.

Cystic fibrosis gene modifier SLC26A9 modulates airway response to CFTR-directed therapeutics.

J. Rommens, P. Böelle, L. Strug, 2016, Human molecular genetics.

Generation of an integrated transcription map of the BRCA2 region on chromosome 13q12-q13.

J. Rommens, M. Skolnick, F. Couch, 1996, Genomics.

A YAC Contig Spanning the Blepharophimosis-Ptosis-Epicanthus inversus Syndrome and Propionic Acidemia Loci

J. Rommens, P. Gasparini, A. Cao, 1997, European journal of human genetics : EJHG.

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

J. Rommens, D. Cox, J. Forbes, 1994, Nature Genetics.

Physical and transcription map in the region 14q24.3: identification of six novel transcripts.

J. Rommens, A. Duncan, A. Roux, 1997, Genomics.

Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 + 1G-->T and 711 + 1G-->T mutations.

L. Tsui, J. Rommens, J. Zieleński, 1993, Human molecular genetics.

A cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

L. Tsui, J. Rommens, J. Zieleński, 1991, American journal of human genetics.

Episomal expression of wild-type CFTR corrects cAMP-dependent chloride transport in respiratory epithelial cells.

J. Rommens, K. Kunzelmann, M. Tykocinski, 1996, Gene therapy.

PROGRESS TOWARDS CLONING OF THE CYSTIC FIBROSIS GENE — IDENTIFICATION OF NEW DNA MARKERS IN THE 7Q31 REGION

L. Tsui, J. Riordan, J. Rommens, 1987 .

Skeletal phenotype in patients with Shwachman–Diamond syndrome and mutations in SBDS

J. Rommens, O. Mäkitie, W. Cole, 2004, Clinical genetics.

Common variants in ZNF365 are associated with both mammographic density and breast cancer risk

A. Paterson, J. Rommens, C. Vachon, 2011, Nature Genetics.

Cystic Fibrosis Gene: Identification

J. Rommens, 2005, eLS.

Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X

L. Tsui, B. Blencowe, J. Rommens, 2007, Journal of Medical Genetics.

Evidence For a Causal Relationship Between Early Exocrine Pancreatic Disease and Cystic Fibrosis-Related Diabetes: A Mendelian Randomization Study Short Title: Interplay of Morbidities in the CF Pancreas

Melissa R. Miller, J. Rommens, L. Strug, 2014 .

Right-angle light scattering to assay basal and regulated plasma membrane Cl- conductances.

J. Rommens, J. Foskett, X. Chang, 1992, The American journal of physiology.

Two homologous genes causing early-onset familial Alzheimer's disease.

J. Rommens, P. S. St George-Hyslop, D. Westaway, 1996, Cold Spring Harbor symposia on quantitative biology.

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

L. Tsui, F. Collins, J. Riordan, 1989, Science.

Identification of the cystic fibrosis gene: genetic analysis.

L. Tsui, J. Rommens, B. Kerem, 1989, Science.

Permeability of Wild-Type and Mutant Cystic Fibrosis Transmembrane Conductance Regulator Chloride Channels to Polyatomic Anions

L. Tsui, J. Riordan, J. Rommens, 1997, The Journal of general physiology.

A genome-wide linkage study of mammographic density, a risk factor for breast cancer

Celia MT Greenwood, John L Hopper, Irene L Andrulis, 2011, Breast Cancer Research.

Identification of the Cystic Fibrosis Gene : Chromosome Walking and Jumping Author ( s ) :

J. Riordan, J. Rommens, R. Rozmahel, 2008 .

Mammographic density and breast cancer: a comparison of related and unrelated controls in the Breast Cancer Family Registry

A. Paterson, J. Rommens, N. Boyd, 2013, Breast Cancer Research.

Sequence of the murine Huntington disease gene: evidence for conservation, alternate splicing and polymorphism in a triplet (CCG) repeat [corrected].

J. Rommens, M. Hayden, R. Graham, 1994, Human molecular genetics.

SERUM PANCREATIC ENZYMES IN PATIENTS WITH SHWACHMAN‐DIAMOND SYNDROME

J. Rommens, P. Durie, W. Ip, 1999, Journal of Pediatric Gastroenterology and Nutrition.

Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development.

J. Rommens, M. Crackower, P. Poorkaj, 1996, Human molecular genetics.

Non-CFTR chloride channels likely contribute to secretion in the murine small intestine

J. Rommens, C. Bear, E. Garami, 2001, Pflügers Archiv.

Bone progenitor dysfunction induces myelodysplasia and secondary leukemia

Charles P. Lin, J. Rommens, B. Ebert, 2010, Nature.