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Author Details

Ali G Gharavi
Columbia University College of Physicians and Surgeons
1994
184
55
PMIDPaper TitleJournal TitlePublished Year
36375470Genetics of Kidney Disease: The Unexpected Role of Rare Disorders.Annu Rev Med2023
37794564The Clinical Utility of Genetic Testing in the Diagnosis and Management of Adults with Chronic Kidney Disease.J Am Soc Nephrol2023
37746849Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies.Genet Med2023
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
37214819Polygenic risk affects the penetrance of monogenic kidney disease.medRxiv2023
37337107Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy.Nat Genet2023
37126669Emerging Genetic Insight into ATIN.J Am Soc Nephrol2023
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
36746961Author Correction: Genetic regulation of serum IgA levels and susceptibility to common immune, infectious, kidney, and cardio-metabolic traits.Nat Commun2023
36763813Rapid Progression of Focal Segmental Glomerulosclerosis in Patients with High-Risk APOL1 Genotypes.Clin J Am Soc Nephrol2023
36758113Clinical and Genetic Characteristics of CKD Patients with High-Risk APOL1 Genotypes.J Am Soc Nephrol2023
36302597Genomic Disorders in CKD across the Lifespan.J Am Soc Nephrol2023
34665896Do research participants share genomic screening results with family members?J Genet Couns2022
35710995Genome-wide polygenic score to predict chronic kidney disease across ancestries.Nat Med2022
35446370Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases.JAMA Oncol2022
36910591Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort.Adv Genet (Hoboken)2022
36103177The Prevalence and Clinical Significance of Congenital Anomalies of the Kidney and Urinary Tract in Preterm Infants.JAMA Netw Open2022
36306130Risk Variants in the Exomes of Children With Critical Illness.JAMA Netw Open2022
36161695Incorporating genetics services into adult kidney disease care.Am J Med Genet C Semin Med Genet2022
35078725Diagnostic sequencing to support genetically stratified medicine in a tertiary care setting.Genet Med2022
34893534GWAS in Mice Maps Susceptibility to HIV-Associated Nephropathy to the <i>Ssbp2</i> Locus.J Am Soc Nephrol2022
33214201COVID-19-Associated Glomerular Disease.J Am Soc Nephrol2021
33909908LIMS1 risk genotype and T cell-mediated rejection in kidney transplant recipients.Nephrol Dial Transplant2021
33851061Improving data quality in observational research studies: Report of the Cure Glomerulonephropathy (CureGN) network.Contemp Clin Trials Commun2021
33850243Medical records-based chronic kidney disease phenotype for clinical care and "big data" observational and genetic studies.NPJ Digit Med2021
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
33508637Experimental evidence of pathogenic role of IgG autoantibodies in IgA nephropathy.J Autoimmun2021
33508234De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.Am J Hum Genet2021
33583624Familial Aggregation of CKD: Gene or Environment?Am J Kidney Dis2021
34670811Longitudinal Outcomes of COVID-19-Associated Collapsing Glomerulopathy and Other Podocytopathies.J Am Soc Nephrol2021
34043590Rare loss-of-function variants in type I IFN immunity genes are not associated with severe COVID-19.J Clin Invest2021
33941608Medical Records-Based Genetic Studies of the Complement System.J Am Soc Nephrol2021
34302027Quantitative disease risk scores from EHR with applications to clinical risk stratification and genetic studies.NPJ Digit Med2021
34156980Association of rare predicted loss-of-function variants of influenza-related type I IFN genes with critical COVID-19 pneumonia. Reply.J Clin Invest2021
34347061Generalizability of Polygenic Risk Scores for Breast Cancer Among Women With European, African, and Latinx Ancestry.JAMA Netw Open2021
33462085Assessing Genetic Risk for IgA Nephropathy: State of the Art.Clin J Am Soc Nephrol2021
33460345Cases in Precision Medicine: Genetic Testing to Predict Future Risk for Disease in a Healthy Patient.Ann Intern Med2021
33368851GeneLiFT: A novel test to facilitate rapid screening of genetic literacy in a diverse population undergoing genetic testing.J Genet Couns2021
32346659Acute Kidney Injury Due to Collapsing Glomerulopathy Following COVID-19 Infection.Kidney Int Rep2020
31793908Not all proteinuria is created equal.J Clin Invest2020
33370368High rate of renal recovery in survivors of COVID-19 associated acute renal failure requiring renal replacement therapy.PLoS One2020
33398295Failure to replicate the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19.medRxiv2020
33276377Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.Hum Mol Genet2020
32891193Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.Am J Hum Genet2020
32807983Rare genetic causes of complex kidney and urological diseases.Nat Rev Nephrol2020
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Collaborators

Krzysztof Kiryluk
Columbia University
Co-authored papers 71
Vivette D D'Agati
Columbia University Irving Medical Center
Co-authored papers 33
Maddalena Marasa
Columbia University College of Physicians and Surgeons
Co-authored papers 29
Richard P Lifton
The Rockefeller University
Co-authored papers 28
Hila Milo Rasouly
Center for Precision Medicine and Genomics, Columbia University Irving Medical Center
Co-authored papers 21
Wendy K Chung
Boston Children's Hospital, Harvard Medical School
Co-authored papers 14
Chunhua Weng
Columbia University Irving Medical Center
Co-authored papers 14
Zina Moldoveanu
Co-authored papers 13
David B Goldstein
Institute for Genomic Medicine, Columbia University Irving Medical Center
Co-authored papers 12
Matthew G Sampson
Co-authored papers 12
Jordan G Nestor
Columbia University
Co-authored papers 12
Ning Shang
Columbia University Irving Medical Center
Co-authored papers 11
Hakon Hakonarson
The Center for Applied Genomics, Children's Hospital of Philadelphia
Co-authored papers 11
Friedhelm Hildebrandt
Boston Children's Hospital
Co-authored papers 11
Nan Chen
Co-authored papers 10
Sumit Mohan
Vagelos College of Physicians and Surgeons, Columbia University
Co-authored papers 10
David R Crosslin
University of Washington Medical Center
Co-authored papers 10
Gail P Jarvik
University of Washington Medical Center
Co-authored papers 9
George Hripcsak
Columbia University
Co-authored papers 9
Daniele Cusi
Institute of Biomedical Technologies, National Research Council of Italy
Co-authored papers 9
Ruth J F Loos
Co-authored papers 9
Iftikhar J Kullo
Mayo Clinic
Co-authored papers 8
Joshua C Denny
Vanderbilt University
Co-authored papers 7
Paul E Klotman
Co-authored papers 7
Shrikant Mane
Yale School of Medicine
Co-authored papers 7
Eimear E Kenny
Icahn School of Medicine at Mount Sinai, NY Institute for Genomic Health
Co-authored papers 7
Ian B Stanaway
Kidney Research Institute and Division of Nephrology, University of Washington
Co-authored papers 7
Gundula Povysil
Institute for Genomic Medicine, Columbia University Medical Center
Co-authored papers 6
Marylyn D Ritchie
Center for Systems Genomics, Pennsylvania State University, University Park
Co-authored papers 6
Julia Wynn
Vagelos College of Physicians and Surgeons, Columbia University
Co-authored papers 6
Release 1.2