Ali Gharavi MD

PubMed

• Polygenic Risk Scores and HLA Class II Variants are Biomarkers of Corticosteroid Response in Childhood Nephrotic Syndrome.
  Tiffany Tu, Alejandro Ochoa, Amika Sood, Ashley Drabik, Megan Chryst-Stangl
  Medrxiv. 2025-08-07
• Exome analysis links kidney malformations to developmental disorders and reveals causal genes.
  Hila Milo Rasouly, Sarath Babu Krishna Murthy, Natalie Vena, Gundula Povysil, Andrew Beenken
  Nature Communications. 2025-08-07
• CAKUT variants in, and: implications for splicing and ciliogenesis.
  Lea M Merz, Shirlee Shril, Tucker J Carrocci, Csenge K Rezi, Natalie J Zeps
  Biorxiv. 2025-07-21

Journal Articles

• Diagnostic Utility of Exome Sequencing for Kidney Disease  
  Ali Gharavi, MD, The New England Journal of Medicine
• The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging from Exome Sequencing  
  Ali Gharavi, MD, Annals of Internal Medicine
• Genomic Disorders and Neurocognitive Impairment in Pediatric Chronic Kidney Disease  
  Verbitsky M, Kogon AJ, Matheson M, Hooper SR, Wong CS, Warady BA, Furth SL and Gharavi AG, J Am Soc Nephrol, 1/27/2017
• Fine mapping of the Complement Factor H locus implicates a deletion of CFHR1 and CFHR3 in protection from IgA Nephropathy in Han Chinese populations  
  Xie J, Kiryluk K, Li Y, Mladkova N, Zhu L, Hou P, Ren H, Wang W, Zhang H, Chen N, Gharavi AG, J Am Soc Nephrol, 1/1/2016
• Refinement of the HIVAN1 Susceptibility Locus on Chr 3A1-A3 via Generation of Sub-Congenic Strains  
  Papeta N, Patel A, D'Agati VD, Gharavi AG, PLoS One, 1/1/2016
• Somatic Mutations Modulate Autoantibodies against Galactose-Deficient IgA1 in IgA Nephropathy  
  Huang ZQ, Raska M, Stewart TJ, Reily C, King RG, Crossman DK, Crowley MR, Hargett A, Zhang Z, Suzuki H, Hall S, Wyatt RJ, Julian BA, Renfrow MB, Gharavi AG, Novak J, J Am Soc Nephrol, 1/1/2016
• Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development  
  Vivante A, Kleppa MJ, Schulz J, Kohl S, Sharma A, Chen J, Shril S, Hwang DY, Weiss AC, Kaminski MM, Shukrun R, Kemper MJ, Lehnhardt A, Beetz R, Sanna-Cherchi S, Verbit..., Am J Hum Genet, 1/1/2015
• Diagnosis of Kidney Disease in the Genomic Era  
  Prakash S, Gharavi AG, Curr Opin Nephrol Hypertens, 1/1/2015
• Variants in Complement Factor H and Complement Factor H-Related Protein Genes, CFHR3 and CFHR1, Affect Complement Activation in IgA Nephropathy  
  Zhu L, Zhai YL, Wang FM, Hou P, Lv JC, Xu DM, Shi SF, Liu LJ, Yu F, Zhao MH, Novak J, Gharavi AG, Zhang H, J Am Soc Nephrol, 1/1/2015
• Genomic imbalances in pediatric patients with chronic kidney disease  
  Verbitsky M, Sanna-Cherchi S, Fasel, A, Levy B, Kiryluk, K, Wuttke M, Abraham AG, Kaskel F, Köttgen, A, Warady BA, Furth SL, Wong CS, Gharavi AG, J Clin Invest, 1/1/2015
• Novel mutations in the Inverted Formin 2 gene of Chinese families contribute to focal segmental glomerulosclerosis  
  Xie J, Hao X, Azeloglu EU, Ren H, Wang Z, Ma J, Liu J, Ma X, Wang W, Pan X, Zhang W, Zhong F, Li Y, Meng G, Kiryluk K, He JC, Gharavi AG, Chen N, Kidney Int, 1/1/2015
• Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney  
  Westland R, Verbitsky M, Vukojevic K, Perry BJ, Fasel DA, Zwijnenburg PJ, Bökenkamp A, Gille JJ, Saraga-Babic M, Ghiggeri GM, D'Agati VD, Schreuder MF, Gharavi AG, van..., S Kidney Int, 1/1/2015
• A panel of serum biomarkers differentiates IgA nephropathy from other renal diseases  
  Yanagawa H, Suzuki H, Suzuki Y, Kiryluk K, Gharavi AG, Matsuoka K, Makita Y, Julian BA, Novak J, Tomino Y, PLoS One, 1/1/2014
• Novel GWAS Loci for IgA Nephropathy Implicate Immunity Against Intestinal Pathogens  
  Kiryluk K, Li Y, Scolari F, Sanna-Cherchi S, Choi M, Verbitsky M, Fasel D, Lata S, Prakash S, Shapiro S, ...and Gharavi AG, Nature Genetics, 1/1/2014
• Phenotypic expansion of DGKE-associated diseases  
  Westland R, Bodria M, Carrea A, Lata S, Scolari F, Fremeaux-Bacchi V, D'Agati VD, Lifton RP, Gharavi AG, Ghiggeri GM, Sanna-Cherchi S, J Am Soc Nephrol, 1/1/2014
• A Retrotransposon Insertion in the 5' Regulatory Domain of Ptf1a Results in Ectopic Gene Expression and Multiple Congenital Defects in Danforth's Short Tail Mouse  
  Lugani F, Arora R., Papeta N., Patel A., Zheng Z., Sterken R., Singer RA, Caridi C., Mendelsohn C., Sussel L., Papaioannou VE, Gharavi AG, PloS Genetics, 1/1/2013
• Mutations in Dual Serine-Threonine and Tyrosine Kinase (DSTYK) and Dominant Urinary Tract Malformations  
  Sanna-Cherchi S, Sampogna RV, Papeta P, Burgess KE, Nees SN, Perry BJ, Choi M, Bodria M, Liu Y, Weng PL,…Gharavi, AG, New Engl J Med, 1/1/2013
• Working Out Nephronophthisis Genetics One Family at a Time  
  Caliskan Y, Gharavi AG, J Am Soc Nephrol, 1/1/2013
• Can genetics risk-stratify patients with membranous nephropathy?  
  Bomback A, Gharavi AG, J Am Soc Nephrol, 1/1/2013
• Number Disorders are a Common Cause of Congenital Kidney Malformations  
  Sanna-Cherchi S, Kiryluk K, Burgess KE, Bodria M, Sampson MG, Hadley D,…Gharavi AG, Am J Hum Genet, 1/1/2012
• Geographic Differences in Genetic Susceptibility to IgA Nephropathy: GWAS Replication Study and Geospatial Risk Analysis  
  Kiryluk K, Li Y, Sanna-Cherchi S, Rohanizadegan M, Suzuki H, Eitner, Snyder HJ, Choi M, Hou P, Scolari F, Izzi C, Gigante M, Gesualdo L, Savoldi S, Amoroso A, Cusi D, ..., PloS Genetics, 1/1/2012
• Mutations in KLHL3 and CUL3 link ubiquitination to blood pressure and electrolyte homeostasis  
  Boyden LM, Choi M, Choate KA, Nelson-Williams CJ, Farhi A, Toka H, Tikhonova I, Mane S, Colussi G, Lebel M, Gordon RD, Semmekrot BA, Mendoza SA, Poujol A, Matti J Väli..., Nature, 1/1/2012
• The level of galactose-deficient IgA1 in the sera of patients with IgA nephropathy is associated with disease progression  
  Zhao N, Hou P, Lv J, Moldoveanu Z, Li Y, Kiryluk K, Gharavi AG, Novak J, Zhang H, Kidney International, 1/1/2012
• I Immunoglobulin A Nephropathy: Molecular Mechanisms of the Disease  
  Mestecky J, Raska M, Raska M, Julian BA, Gharavi AG, Renfrow MB, Moldoveanu Z, Novak L., Matousovic K., Novak J, Annual Reviews of Pathology, 1/1/2012
• Pathogenesis Of Immunoglobulin A Nephropathy: Recent Insight from Genetic Studies  
  Kiryluk, K, Novak J, Gharavi, AG, Annual Reviews of Medicine, 1/1/2012
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Books/Book Chapters

• Genetic Diseases of the Kidney 
  Chapter: IgA nephropathy. 
  Beerman, I, Scolari F, Gharavi AGEditors: Lifton, Somlo, Giebisch, Seldin.Elsevier, San Diego, CAEdition 1st,2008
• NKF Primer on Kidney Diseases 
  Chapter: Genetic basis of Glomerular and structural kidney disorders. 
  Gharavi, AGEditors: Greenberg et al.Elsevier Science, Philadelphia, PAEdition 4th,2005
• Metabolic and Molecular Basis of Inherited Disease 
  Chapter: The molecular basis of inherited blood pressure variation 
  Gharavi AG., Lifton RPEditors: Scriver CR et al.McGraw-Hill, New York, NY2000

Lectures

• Linking Genotype to Phenotype in the Age of Big Data 
  American Society of Nephrology Kidney Week 2019 - Washington, D.C. - 11/7/2019
• Genetic Correlations of Renal Biopsy Findings, Including the Robert W. Schrier, MD, Endowed Lectureship 
  American Society of Nephrology Kidney Week 2019 - Washington, D.C. - 11/8/2019
• Undiagnosed Diseases in Patients with Chronic Kidney Disease 
  1/1/2017
• Unconventional Mutations associated with Nephropathy 
  Chicago, IL - 1/1/2016
• Genetic of IgA Nephropathy 
  Hospital for Special Surgery, NY - 1/1/2016
• Precision Medicine for Kidney diseases 
  Massachusetts General Hospital, Boston, MA - 1/1/2016
• Genomics Approaches to Vesicoureteral reflux 
  O’Brien Center - 1/1/2016
• Genetics of Glomerular Diseases 
  Boston, MA - 1/1/2016
• IgA Nephropathy: Genetic and Environmental Factors 
  Tours, France - 1/1/2016
• Genomic Medicine for Kidney Diseases 
  Bethesda, MD - 1/1/2016
• Genetics of Kidney Diseases 
  1/1/2016
• Genetics of HIV kidney disease 
  San Diego, CA - 1/1/2015
• Precision Medicine in Nephrology 
  Columbia University - 1/1/2015
• Copy Number Variants in Congenital Anomalies of the Urinary Tract 
  San Diego, CA - 1/1/2015
• Precision Medicine and Applications to Internal Medicine 
  Danville, PA - 1/1/2015
• Genomic Diagnosis of Kidney Disease 
  New York, NY - 1/1/2015
• IgA nephropathy, Mucosal Immunity and Intestinal Pathogens 
  London, United Kingdom - 1/1/2015
• Genetic Studies link Kidney Disorders to Neurocognitive Disorders 
  Lewisburg, PA - 1/1/2015
• Personalized Genomic Medicine 
  Stamford Hospital, CT - 1/1/2014
• Genomic Approaches to Kidney Failure 
  New York University - 1/1/2014
• Genomic Nephrology 
  Winthrop Hospital - 1/1/2014
• Genetics Studies link kidney Disease to Neurocognitive, intestinal and infectious Disorders 
  Northwestern University - 1/1/2014
• Prospects for Personalized Medicine in Nephrology 
  Necker Hospital, Paris, France - 1/1/2014
• Genomic Diagnosis for Pediatric Kidney Disease 
  1/1/2014
• Genetics of Dominant Urinary Tract Malformations 
  Boston, MA - 1/1/2014
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