AliGharaviMD

PubMed

• Genetic testing in kidney transplantation helped develop a morbidity gene panel for evaluation of kidney transplant recipients.
  Becky M Ma, Naama Elefant, Martina Tedesco, Natalie Vena, Sarath K Murthy, Shiraz A Bheda, Sandy Yang, Nikita Tomar, Jun Y Zhang, Hila Milo Rasouly, Kelsie Bogyo, Syed...> ;Kidney International. 2024 Mar 21
• The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease.
  Emily Zhao, Miles Bomback, Atlas Khan, Sarath Krishna Murthy, David Solowiejczyk, Neeta L Vora, Kelly L Gilmore, Jessica L Giordano, Ronald J Wapner, Simone Sanna-Cher...> ;Prenatal Diagnosis. 2024 Mar 1
• Targeting WIP1 phosphatase promotes partial remission in experimental collapsing glomerulopathy.
  Lou C Duret, Tynhinane Hamidouche, Nicholas J Steers, Catherine Pons, Nicolas Soubeiran, Delphine Buret, Eric Gilson, Ali G Gharavi, Vivette D D'Agati, Marina Shkreli> ;Kidney International. 2024 Feb 27
• 1 citations
  Genetic versus self-reported African ancestry of the recipient and neighborhood predictors of kidney transplantation outcomes in 2 multiethnic urban cohorts.
  Zanoni, F., Neugut, Y., Liu, L., Zhang, J., Keating, B., Obayemi, J., Ratner, L., Cohen, D., Mohan, S., Gharavi, A., Kiryluk, K.> ;American Journal of Transplantation. 2024 Feb 6
• Polygenic risk alters the penetrance of monogenic kidney disease.
  Khan, A., Shang, N., Weng, C., Hripcsak, G., Harris, P., Nestor, J., Gharavi, A., Kiryluk, K.> ;Nature Communications. 2023 Dec 14
• The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.
  Kong, X., Bogyo, K., Kapoor, S., Shea, P., Groopman, E., Thomas-Wilson, A., Cocchi, E., Milo Rasouly, H., Zheng, B., Sun, S., Zhang, J., Martinez, M., Vittorio, J., Do...> ;Scientific Reports. 2023 Dec 6
• Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies.
  Martino, J., Liu, Q., Vukojevic, K., Ke, J., Lim, T., Khan, A., Gupta, Y., Perez, A., Yan, Z., Milo Rasouly, H., Vena, N., Lippa, N., Giordano, J., Saraga, M., Saraga-...> ;Genetics in Medicine. 2023 Dec 1
• 3 citations
  Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease.
  Yask Gupta, David J Friedman, Michelle T McNulty, Atlas Khan, Brandon Lane, Chen Wang, Juntao Ke, Gina Jin, Benjamin Wooden, Andrea L Knob, Tze Y Lim, Gerald B Appel, ...> ;Nature Communications. 2023 Nov 30
• 1 citations
  The Clinical Utility of Genetic Testing in the Diagnosis and Management of Adults with Chronic Kidney Disease.
  Neera K Dahl, Michelle S Bloom, Fouad T Chebib, Dinah Clark, Maggie Westemeyer, Sara Jandeska, Zhiji Zhang, Hila Milo-Rasouly, Victoria Kolupaeva, Maddalena Marasa, Va...> ;Journal of the American Society of Nephrology. 2023 Dec 1
• Implementation and Feasibility of Clinical Genome Sequencing Embedded Into the Outpatient Nephrology Care for Patients With Proteinuric Kidney Disease.
  Maddalena Marasa, Dina F Ahram, Atteeq U Rehman, Adele Mitrotti, Avinash Abhyankar, Namrata G Jain, Patricia L Weng, Stacy E Piva, Hilda E Fernandez, Natalie S Uy, Deb...> ;Kidney International Reports. 2023 Aug 1
• 15 citations
  Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy.
  Krzysztof Kiryluk, Elena Sanchez-Rodriguez, Xu-Jie Zhou, Francesca Zanoni, Lili Liu, Nikol Mladkova, Atlas Khan, Maddalena Marasa, Jun Y Zhang, Olivia Balderes, Simone...> ;Nature Genetics. 2023 Jul 1
• 3 citations
  Polygenic risk affects the penetrance of monogenic kidney disease.
  Atlas Khan, Ning Shang, Jordan G Nestor, Chunhua Weng, George Hripcsak, Peter C Harris, Ali G Gharavi, Krzysztof Kiryluk> ;Medrxiv. 2023 May 10
• 5 citations
  Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome.
  Alexandra Barry, Michelle T McNulty, Xiaoyuan Jia, Yask Gupta, Hanna Debiec, Yang Luo, China Nagano, Tomoko Horinouchi, Seulgi Jung, Manuela Colucci, Dina F Ahram, Ade...> ;Nature Communications. 2023 Apr 29
• Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis.
  Dina F Ahram, Tze Y Lim, Juntao Ke, Gina Jin, Miguel Verbitsky, Monica Bodria, Byum Hee Kil, Debanjana Chatterjee, Stacy E Piva, Maddalena Marasa, Jun Y Zhang, Enrico ...> ;Journal of the American Society of Nephrology. 2023 Jun 1
• Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort.
  Elicia Estrella, Shira Rockowitz, Marielle Thorne, Pressley Smith, Jeanette Petit, Veronica Zehnder, Richard N Yu, Stuart Bauer, Charles Berde, Pankaj B Agrawal, Alan ...> ;Advanced Genetics. 2023 Mar 1
• 5 citations
  The effect of genetic education on the referral of patients to genetic evaluation: Findings from a national survey of nephrologists.
  Hila Milo Rasouly, Olivia Balderes, Maddalena Marasa, Hilda Fernandez, Marissa Lipton, Fangming Lin, Ali G Gharavi, Maya Sabatello> ;Genetics in Medicine. 2023 May 1
• 2 citations
  Clinical and Genetic Characteristics of CKD Patients with High-Risk APOL1 Genotypes.
  Mark D Elliott, Maddalena Marasa, Enrico Cocchi, Natalie Vena, Jun Y Zhang, Atlas Khan, Sarath Krishna Murthy, Shiraz Bheda, Hila Milo Rasouly, Gundula Povysil, Krzysz...> ;Journal of the American Society of Nephrology. 2023 May 1
• 18 citations
  Author Correction: Genetic regulation of serum IgA levels and susceptibility to common immune, infectious, kidney, and cardio-metabolic traits.
  Lili Liu, Atlas Khan, Elena Sanchez-Rodriguez, Francesca Zanoni, Yifu Li, Nicholas Steers, Olivia Balderes, Junying Zhang, Priya Krithivasan, Robert A LeDesma, Clara F...> ;Nature Communications. 2023 Feb 6
• 2 citations
  Rapid Progression of Focal Segmental Glomerulosclerosis in Patients with High-Risk APOL1 Genotypes.
  Mahmoud Kallash, Yujie Wang, Abigail Smith, Howard Trachtman, Rasheed Gbadegesin, Carla Nester, Pietro Canetta, Chen Wang, Tracy E Hunley, C John Sperati, David Selews...> ;Clinical Journal of the American Society of Nephrology. 2023 Mar 1
• 2 citations
  Genetics of Kidney Disease: The Unexpected Role of Rare Disorders.
  Mark D Elliott, Hila Milo Rasouly, Ali G Gharavi> ;Annual Review of Medicine. 2023 Jan 27
• 12 citations
  Genetic regulation of serum IgA levels and susceptibility to common immune, infectious, kidney, and cardio-metabolic traits.
  Lili Liu, Atlas Khan, Elena Sanchez-Rodriguez, Francesca Zanoni, Yifu Li, Nicholas Steers, Olivia Balderes, Junying Zhang, Priya Krithivasan, Robert A LeDesma, Clara F...> ;Nature Communications. 2022 Nov 11
• 4 citations
  Genomic Disorders in CKD across the Lifespan.
  Miguel Verbitsky, Sarathbabu Krishnamurthy, Priya Krithivasan, Daniel Hughes, Atlas Khan, Maddalena Marasà, Natalie Vena, Pavan Khosla, Junying Zhang, Tze Y Lim, Josep...> ;Journal of the American Society of Nephrology. 2023 Apr 1
• 1 citations
  Risk Variants in the Exomes of Children With Critical Illness.
  Joshua E Motelow, Natalie C Lippa, Joseph Hostyk, Evin Feldman, Matthew Nelligan, Zhong Ren, Anna Alkelai, Joshua D Milner, Ali G Gharavi, Yingying Tang, David B Golds...> ;JAMA Network Open. 2022 Oct 3
• 12 citations
  The Prevalence and Clinical Significance of Congenital Anomalies of the Kidney and Urinary Tract in Preterm Infants.
  Thomas Hays, Michaela V Thompson, David A Bateman, Rakesh Sahni, Veeral N Tolia, Reese H Clark, Ali G Gharavi> ;JAMA Network Open. 2022 Sep 1
• 2 citations
  Incorporating genetics services into adult kidney disease care.
  Kelsie Bogyo, Natalie Vena, Halie May, Hila Milo Rasouly, Maddalena Marasa, Simone Sanna-Cherchi, Krzysztof Kiryluk, Jordan Nestor, Ali Gharavi> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2022 Sep 1
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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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• Can genetics risk-stratify patients with membranous nephropathy?  
  Bomback A, Gharavi AG, J Am Soc Nephrol, 1/1/2013
• Working Out Nephronophthisis Genetics One Family at a Time  
  Caliskan Y, Gharavi AG, J Am Soc Nephrol, 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
• 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
• 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
• Pathogenesis Of Immunoglobulin A Nephropathy: Recent Insight from Genetic Studies  
  Kiryluk, K, Novak J, Gharavi, AG, Annual Reviews of Medicine, 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
• 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
• 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
• 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
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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

• 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
• Linking Genotype to Phenotype in the Age of Big Data 
  American Society of Nephrology Kidney Week 2019 - Washington, D.C. - 11/7/2019
• Undiagnosed Diseases in Patients with Chronic Kidney Disease 
  1/1/2017
• Genomic Medicine for Kidney Diseases 
  Bethesda, MD - 1/1/2016
• Genetics of Glomerular Diseases 
  Boston, MA - 1/1/2016
• 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
• IgA Nephropathy: Genetic and Environmental Factors 
  Tours, France - 1/1/2016
• Genetics of Kidney Diseases 
  1/1/2016
• Precision Medicine in Nephrology 
  Columbia University - 1/1/2015
• Precision Medicine and Applications to Internal Medicine 
  Danville, PA - 1/1/2015
• Genetic Studies link Kidney Disorders to Neurocognitive Disorders 
  Lewisburg, PA - 1/1/2015
• IgA nephropathy, Mucosal Immunity and Intestinal Pathogens 
  London, United Kingdom - 1/1/2015
• Genomic Diagnosis of Kidney Disease 
  New York, NY - 1/1/2015
• Copy Number Variants in Congenital Anomalies of the Urinary Tract 
  San Diego, CA - 1/1/2015
• Genetics of HIV kidney disease 
  San Diego, CA - 1/1/2015
• Genetics of Dominant Urinary Tract Malformations 
  Boston, MA - 1/1/2014
• Prospects for Personalized Medicine in Nephrology 
  Necker Hospital, Paris, France - 1/1/2014
• Genomic Approaches to Kidney Failure 
  New York University - 1/1/2014
• Genetics Studies link kidney Disease to Neurocognitive, intestinal and infectious Disorders 
  Northwestern University - 1/1/2014
• Personalized Genomic Medicine 
  Stamford Hospital, CT - 1/1/2014
• Genomic Nephrology 
  Winthrop Hospital - 1/1/2014
• Genomic Diagnosis for Pediatric Kidney Disease 
  1/1/2014
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