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Author Details

Maddalena Marasa
Columbia University College of Physicians and Surgeons
2004
50
19
PMIDPaper TitleJournal TitlePublished Year
36302597Genomic Disorders in CKD across the Lifespan.J Am Soc Nephrol2023
37794564The Clinical Utility of Genetic Testing in the Diagnosis and Management of Adults with Chronic Kidney Disease.J Am Soc Nephrol2023
37547535Implementation and Feasibility of Clinical Genome Sequencing Embedded Into the Outpatient Nephrology Care for Patients With Proteinuric Kidney Disease.Kidney Int Rep2023
38057357The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.Sci Rep2023
38036523Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease.Nat Commun2023
37120605Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome.Nat Commun2023
37337107Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy.Nat Genet2023
36995132Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis.J Am Soc Nephrol2023
36789889The effect of genetic education on the referral of patients to genetic evaluation: Findings from a national survey of nephrologists.Genet Med2023
36758113Clinical and Genetic Characteristics of CKD Patients with High-Risk APOL1 Genotypes.J Am Soc Nephrol2023
35216901The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network.Genet Med2022
36161695Incorporating genetics services into adult kidney disease care.Am J Med Genet C Semin Med Genet2022
36217514Clinical Real-Time Genome Sequencing to Solve the Complex and Confounded Presentation of a Child With Focal Segmental Glomerulosclerosis and Multiple Malignancies.Kidney Int Rep2022
33368851GeneLiFT: A novel test to facilitate rapid screening of genetic literacy in a diverse population undergoing genetic testing.J Genet Couns2021
33851061Improving data quality in observational research studies: Report of the Cure Glomerulonephropathy (CureGN) network.Contemp Clin Trials Commun2021
33597122Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux.J Am Soc Nephrol2021
33709066An electronic health record (EHR) log analysis shows limited clinician engagement with unsolicited genetic test results.JAMIA Open2021
34670811Longitudinal Outcomes of COVID-19-Associated Collapsing Glomerulopathy and Other Podocytopathies.J Am Soc Nephrol2021
34166370Mycophenolate mofetil versus azathioprine in kidney transplant recipients on steroid-free, low-dose cyclosporine immunosuppression (ATHENA): A pragmatic randomized trial.PLoS Med2021
32231244The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis.Nat Commun2020
32680910Kidney Biopsy Findings in Patients with COVID-19.J Am Soc Nephrol2020
32555418Ethical conflicts in translational genetic research: lessons learned from the eMERGE-III experience.Genet Med2020
32413979Understanding the Return of Genomic Sequencing Results Process: Content Review of Participant Summary Letters in the eMERGE Research Network.J Pers Med2020
32299846Pilot Study of Return of Genetic Results to Patients in Adult Nephrology.Clin J Am Soc Nephrol2020
32349224Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network.J Pers Med2020
30586318Diagnostic Utility of Exome Sequencing for Kidney Disease.N Engl J Med2019
31040387Correction: Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study.Genet Med2019
31085678Exome-Based Rare-Variant Analyses in CKD.J Am Soc Nephrol2019
30930462Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study.Genet Med2019
30816350Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract.Nat Genet2019
30578417The copy number variation landscape of congenital anomalies of the kidney and urinary tract.Nat Genet2019
30420158CureGN Study Rationale, Design, and Methods: Establishing a Large Prospective Observational Study of Glomerular Disease.Am J Kidney Dis2019
29326307Mycophenolate Mofetil in Combination with Steroids for Treatment of C3 Glomerulopathy: A Case Series.Clin J Am Soc Nephrol2018
29961570Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes.Am J Hum Genet2018
30450447Pitfalls and Challenges of Consenting to Genetic Research Studies.Kidney Int Rep2018
29310824C3 glomerulonephritis and dense deposit disease share a similar disease course in a large United States cohort of patients with C3 glomerulopathy.Kidney Int2018
29204651Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.Ann Intern Med2018
29022673CD55 Deficiency and Protein-Losing Enteropathy.N Engl J Med2017
24480824Rituximab in steroid-dependent or frequently relapsing idiopathic nephrotic syndrome.J Am Soc Nephrol2014
25155494Refractory focal segmental glomerulosclerosis in the adult: complete and sustained remissions of two episodes of nephrotic syndrome after a single dose of rituximab.BMJ Case Rep2014
22822077Rituximab in idiopathic membranous nephropathy.J Am Soc Nephrol2012
22685630Perioperative Minimal Induction Therapy: A Further Step toward More Effective Immunosuppression in Transplantation.J Transplant2012
20930086Autologous mesenchymal stromal cells and kidney transplantation: a pilot study of safety and clinical feasibility.Clin J Am Soc Nephrol2011
22075952Hypertension after kidney transplantation: an important, but still neglected issue.J Hypertens2011
21658826Membranous nephropathy associated with IgG4-related disease.Am J Kidney Dis2011
21508634Efficacy and safety of rituximab second-line therapy for membranous nephropathy: a prospective, matched-cohort study.Am J Nephrol2011
19474828Monoclonal antibodies for podocytopathies: rationale and clinical responses.Nat Rev Nephrol2009
17409315Neutralization of macrophage-stimulating protein ameliorates renal injury in anti-thy 1 glomerulonephritis.J Am Soc Nephrol2007
17584600Activation of PPARgamma enhances in vitro the immunosuppressive effect of cyclosporine on T lymphocytes.Transpl Immunol2007
15110636Platelet-Independent defect in hemostasis associated with sirolimus use.Transplant Proc2004
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Collaborators

Ali G Gharavi
Columbia University College of Physicians and Surgeons
Co-authored papers 29
Krzysztof Kiryluk
Columbia University
Co-authored papers 18
Hila Milo Rasouly
Center for Precision Medicine and Genomics, Columbia University Irving Medical Center
Co-authored papers 14
Vivette D D'Agati
Columbia University Irving Medical Center
Co-authored papers 9
Jordan G Nestor
Columbia University
Co-authored papers 9
Julia Wynn
Vagelos College of Physicians and Surgeons, Columbia University
Co-authored papers 8
Wendy K Chung
Boston Children's Hospital, Harvard Medical School
Co-authored papers 8
Ruth J F Loos
Co-authored papers 6
Matthew G Sampson
Co-authored papers 6
Eimear E Kenny
Icahn School of Medicine at Mount Sinai, NY Institute for Genomic Health
Co-authored papers 6
Chunhua Weng
Columbia University Irving Medical Center
Co-authored papers 6
Paul S Appelbaum
Center for Law, Columbia University Irving Medical Center
Co-authored papers 5
Hakon Hakonarson
The Center for Applied Genomics, Children's Hospital of Philadelphia
Co-authored papers 5
Kathleen A Leppig
Kaiser Permanente Washington
Co-authored papers 4
Friedhelm Hildebrandt
Boston Children's Hospital
Co-authored papers 4
Brynn Levy
Co-authored papers 4
Iftikhar J Kullo
Mayo Clinic
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E Clayton
Harvard Medical School, Vanderbilt University, Yale University Yale Law School
Co-authored papers 3
Laura H Mariani
University of Michigan ann arbor
Co-authored papers 3
Alanna Kulchak Rahm
Research Institute
Co-authored papers 3
Melanie F Myers
Cincinnati Children's Hospital Medical Center
Co-authored papers 3
Gail P Jarvik
University of Washington Medical Center
Co-authored papers 3
Maureen E Smith
Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University
Co-authored papers 3
James D Ralston
University of Washington.
Co-authored papers 3
Janet L Williams
Genomic Medicine Institute
Co-authored papers 3
Cynthia A Prows
Cincinnati Children's Hospital Medical Center
Co-authored papers 3
Christin Hoell
Northwestern University, Center for Genetic Medicine
Co-authored papers 3
Richard R Sharp
Biomedical Ethics, Mayo Clinic and Foundation
Co-authored papers 3
Josh F Peterson
Vanderbilt University Medical Center
Co-authored papers 3
Eric B Larson
University of Washington
Co-authored papers 3
Release 1.2