S. Sanna-Cherchi

发表

Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens

Murim Choi, R. Lifton, M. Salvadori, 2014, Nature Genetics.

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.

Kristen M. Laricchia, Thomas M. Kitzler, D. MacArthur, 2020, American journal of human genetics.

Renal outcome in patients with congenital anomalies of the kidney and urinary tract.

S. Parodi, F. Scolari, S. Sanna-Cherchi, 2009, Kidney international.

Mutations in DSTYK and dominant urinary tract malformations.

R. Ravazzolo, A. Latos-Bieleńska, V. D’Agati, 2013, The New England journal of medicine.

Pilot Study of Return of Genetic Results to Patients in Adult Nephrology.

A. Gharavi, K. Kiryluk, S. Sanna-Cherchi, 2020, Clinical journal of the American Society of Nephrology : CJASN.

Diagnostic Utility of Exome Sequencing for Kidney Disease

Chunhua Weng, Krzysztof Kiryluk, Jai Radhakrishnan, 2019, The New England journal of medicine.

Cyclosporine in patients with steroid-resistant nephrotic syndrome: an open-label, nonrandomized, retrospective study.

G. Rizzoni, F. Scolari, S. Sanna-Cherchi, 2004, Clinical therapeutics.

A Novel SUCLA2 Mutation Presenting as a Complex Childhood Movement Disorder

S. Sanna-Cherchi, M. Hirano, C. Garone, 2017, Journal of child neurology.

Translational Research Methods: Basics of Renal Molecular Biology

S. Sanna-Cherchi, G. Ghiggeri, M. Bruschi, 2015 .

Clinical Characteristics and Treatment Patterns of Children and Adults With IgA Nephropathy or IgA Vasculitis: Findings From the CureGN Study

Craig S. Wong, V. D’Agati, C. Alpers, 2018, Kidney international reports.

Incorporating genetics services into adult kidney disease care

A. Gharavi, K. Kiryluk, S. Sanna-Cherchi, 2022, medRxiv.

Type IV Collagen Mutations in Familial IgA Nephropathy

V. D’Agati, A. Gharavi, K. Kiryluk, 2020, Kidney international reports.

Phenocopies, Phenotypic Expansion, and Coincidental Diagnoses: Time to Abandon Targeted Gene Panels?

S. Sanna-Cherchi, V. Aggarwal, D. Ahram, 2020, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Persistent Disease Activity in Patients With Long-Standing Glomerular Disease

Craig S. Wong, B. Rovin, J. Klein, 2020, Kidney international reports.

Geographic Differences in Genetic Susceptibility to IgA Nephropathy: GWAS Replication Study and Geospatial Risk Analysis

Loreto Gesualdo, Krzysztof Kiryluk, Murim Choi, 2012, PLoS genetics.

Familial aggregation of primary glomerulonephritis in an Italian population isolate: Valtrompia study.

R. Lifton, A. Gharavi, F. Scolari, 2006, Kidney international.

Genetic approaches to human renal agenesis/hypoplasia and dysplasia

A. Gharavi, F. Scolari, S. Sanna-Cherchi, 2007, Pediatric Nephrology.

Immunohistochemical expression pattern of RIP5, FGFR1, FGFR2 and HIP2 in the normal human kidney development.

S. Sanna-Cherchi, B. Kablar, K. Vukojević, 2019, Acta histochemica.

Familial vesicoureteral reflux: testing replication of linkage in seven new multigenerational kindreds.

R. Ravazzolo, T. Hensle, A. Gharavi, 2005, Journal of the American Society of Nephrology : JASN.

Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux.

Craig S. Wong, H. Hakonarson, C. Willer, 2021, Journal of the American Society of Nephrology : JASN.

Recurrent autosomal-dominant focal segmental glomerulosclerosis.

S. Sanna-Cherchi, G. Ghiggeri, L. Allegri, 2006, Kidney international.

Clinical implications of the solitary functioning kidney.

S. Sanna-Cherchi, J. V. van Goudoever, M. Schreuder, 2014, Clinical journal of the American Society of Nephrology : CJASN.

Alterations of Type IV Collagen α Chains in Patients with Chronic Acquired Glomerulopathies: mRNA Levels, Protein Expression and Urinary Loss

U. Maggiore, S. Sanna-Cherchi, L. Allegri, 2007, American Journal of Nephrology.

Phenotypic expansion of DGKE-associated diseases.

V. D’Agati, R. Lifton, A. Gharavi, 2014, Journal of the American Society of Nephrology : JASN.

Familial forms of nephrotic syndrome

S. Sanna-Cherchi, G. Ghiggeri, G. Caridi, 2010, Pediatric Nephrology.

Podocin mutations in sporadic focal-segmental glomerulosclerosis occurring in adulthood.

F. Scolari, S. Sanna-Cherchi, G. Ghiggeri, 2003, Kidney international.

Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract

Richard S. Lee, S. Mane, S. Bauer, 2022, European urology open science.

'Congenital solitary functioning kidneys: which ones warrant follow-up into adult life?'.

S. Sanna-Cherchi, G. Ghiggeri, Valentina Corbani, 2011, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development.

Richard S. Lee, Amita Sharma, E. Mancini, 2015, American journal of human genetics.

Urinary NGAL marks cystic disease in HIV-associated nephropathy.

V. D’Agati, T. Nickolas, A. Magnano, 2009, Journal of the American Society of Nephrology : JASN.

Quantifying collagen in mouse kidneys.

S. Sanna-Cherchi, 2008, Kidney international.

α-Intercalated cells defend the urinary system from bacterial infection.

Alexander D Klose, Sumit Mohan, Katherine Xu, 2014, The Journal of clinical investigation.

Apolipoprotein E in idiopathic nephrotic syndrome and focal segmental glomerulosclerosis.

M. Rastaldi, F. Scolari, S. Sanna-Cherchi, 2003, Kidney international.

Circulating anti‐actin and anti‐ATP synthase antibodies identify a sub‐set of patients with idiopathic nephrotic syndrome

G. Camussi, S. Sanna-Cherchi, G. Ghiggeri, 2005, Clinical and experimental immunology.

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

D. Goldstein, S. Mane, G. Ardissino, 2017, American journal of human genetics.

GWAS defines pathogenic signaling pathways and prioritizes drug targets for IgA nephropathy

F. Kronenberg, P. Gregersen, C. Wijmenga, 2021, medRxiv.

Genetic basis of human congenital anomalies of the kidney and urinary tract

A. Gharavi, S. Sanna-Cherchi, G. Ghiggeri, 2018, The Journal of clinical investigation.

Scara5 is a ferritin receptor mediating non-transferrin iron delivery.

Simone Sanna-Cherchi, Neal Paragas, N. Andrews, 2009, Developmental cell.

The copy number variation landscape of congenital anomalies of the kidney and urinary tract

Craig S. Wong, H. Hakonarson, A. Latos-Bieleńska, 2018, Nature Genetics.

Copy-number disorders are a common cause of congenital kidney malformations.

Stephan J Sanders, V. Jobanputra, W. Chung, 2012, American journal of human genetics.

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.

V. Jobanputra, D. Goldstein, S. Mane, 2021, American journal of human genetics.

Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome.

A. Breman, J. Lupski, Zhihong Wu, 2020, Kidney international.

Genomic imbalances in pediatric patients with chronic kidney disease.

A. Köttgen, A. Gharavi, K. Kiryluk, 2015, The Journal of clinical investigation.

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

Craig S. Wong, E. Zackai, H. Hakonarson, 2017, The New England journal of medicine.

Longitudinal Changes in Health-Related Quality of Life in Primary Glomerular Disease: Results From the CureGN Study

Craig S. Wong, V. D’Agati, M. Kretzler, 2020, Kidney international reports.

tarSVM: Improving the accuracy of variant calls derived from microfluidic PCR-based targeted next generation sequencing using a support vector machine

Catherine C. Robertson, H. Kang, C. Winkler, 2016, BMC Bioinformatics.

Multidisciplinary approaches for elucidating genetics and molecular pathogenesis of urinary tract malformations.

N. Katsanis, R. Sampogna, S. Sanna-Cherchi, 2021, Kidney international.

ParseCNV2: a versatile and integrated tool for copy number variation association studies.

S. Sanna-Cherchi, M. Verbitsky, T. Lim, 2023, European journal of human genetics : EJHG.

Genome-wide association study identifies susceptibility loci for IgA nephropathy

Loreto Gesualdo, Krzysztof Kiryluk, Murim Choi, 2011, Nature Genetics.

Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome.

T. Palomero, V. D’Agati, H. Kim, 2011, Kidney international.

Characterization of a large Lebanese family segregating IgA nephropathy.

V. D’Agati, R. Lifton, A. Gharavi, 2007, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

A recessive gene for primary vesicoureteral reflux maps to chromosome 12p11-q13.

R. Ravazzolo, R. Burk, R. Cheng, 2009, Journal of the American Society of Nephrology : JASN.

Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.

A. Köttgen, J. Florez, M. Jadoul, 2022, Kidney international.

The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis

L. Kiemeney, A. Köttgen, I. Ionita-Laza, 2020, Nature Communications.

Targeted sequencing of 96 renal developmental microRNAs in 1213 individuals from 980 families with congenital anomalies of the kidney and urinary tract.

S. Bauer, V. Tasic, S. Sanna-Cherchi, 2016, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis

L. Kiemeney, A. Köttgen, I. Ionita-Laza, 2020, Nature Communications.

Integrative analysis of rare copy number variants and gene expression data in alopecia areata implicates an aetiological role for autophagy

A. Christiano, S. Sanna-Cherchi, M. Verbitsky, 2020, Experimental dermatology.

Whole-Exome Sequencing in Adults With Chronic Kidney Disease

V. Jobanputra, V. D’Agati, C. Antignac, 2018, Annals of Internal Medicine.

Isolated polycystic liver disease genes define effectors of polycystin-1 function.

S. Mane, Murim Choi, R. Lifton, 2017, The Journal of clinical investigation.

Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.

Kristen M. Laricchia, Thomas M. Kitzler, Richard S. Lee, 2018, Journal of the American Society of Nephrology : JASN.

The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome Sequencing

W. Chung, C. Weng, A. Gharavi, 2018, Annals of Internal Medicine.

Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.

S. Dimauro, R. Horvath, S. Sanna-Cherchi, 2012, American Journal of Human Genetics.

Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33.

R. Ravazzolo, A. Gharavi, F. Scolari, 2007, American journal of human genetics.

The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1

A. Latos-Bieleńska, A. Gharavi, K. Kiryluk, 2014, Pediatric Nephrology.

HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort

A. Gharavi, S. Sanna-Cherchi, S. Furth, 2011, Pediatric Nephrology.

A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling.

S. Bauer, Weining Lu, D. Magen, 2017, Journal of the American Society of Nephrology : JASN.

Isolated polycystic liver disease genes define effectors of polycystin-1 function

S. Mane, Murim Choi, R. Lifton, 2017, The Journal of clinical investigation.

A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family

S. Mane, S. Somlo, S. Sanna-Cherchi, 2018, Human mutation.

Recurrence of focal segmental glomerulosclerosis after renal transplantation in patients with mutations of podocin.

G. Rizzoni, F. Scolari, S. Sanna-Cherchi, 2003, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Exome-Based Rare-Variant Analyses in CKD.

D. Goldstein, A. Allen, S. Petrovski, 2019, Journal of the American Society of Nephrology : JASN.

GWAS in Mice Maps Susceptibility to HIV-Associated Nephropathy to the Ssbp2 Locus

V. D’Agati, A. Gharavi, S. Sanna-Cherchi, 2021, Journal of the American Society of Nephrology : JASN.

Recessive mutations in CAKUT and VACTERL association.

S. Sanna-Cherchi, R. Westland, 2014, Kidney international.

Duplication of The SOX3 Gene in an Sry-negative 46,XX Male with Associated Congenital Anomalies of Kidneys and the Urinary Tract: Case Report and Review of the Literature

Z. Gucev, V. Tasic, S. Sanna-Cherchi, 2019, Balkan journal of medical genetics : BJMG.

S. Sanna-Cherchi, G. Ghiggeri, G. Caridi, 2006 .

Cis and trans regulatory elements in NPHS2 promoter: implications in proteinuria and progression of renal diseases.

S. Parodi, F. Scolari, S. Sanna-Cherchi, 2006, Kidney international.

Rare functional variants of podocin (NPHS2) promoter in patients with nephrotic syndrome.

R. Coppo, G. Camussi, F. Scolari, 2006, Gene Expression.

Mutations in NRIP 1 cause dominant urinary tract malformations via dysregulation of retinoic acid signaling

Yair, Weining Lu, D. Magen, 2017 .

Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney

V. D’Agati, A. Gharavi, S. Sanna-Cherchi, 2015, Kidney international.

Genetic approaches to human renal agenesis/hypoplasia and dysplasia

A. Gharavi, F. Scolari, S. Sanna-Cherchi, 2007, Pediatric nephrology (Berlin, West).

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

D. Goldstein, S. Mane, G. Ardissino, 2017, American journal of human genetics.

Anomalies of the genitourinary tract in children with 22q11.2 deletion syndrome

E. Zackai, S. Sanna-Cherchi, D. McDonald-McGinn, 2019, American Journal of Medical Genetics. Part A.

[Genetic Basis of Congenital Anomalies of the Kidney and Urinary Tract].

S. Sanna-Cherchi, M. Bodria, 2015, Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia.

Genomic Disorders in CKD across the Lifespan

Craig S. Wong, Joseph T. Glessner, J. Glessner, 2022 .

Clinical Real-Time Genome Sequencing to Solve the Complex and Confounded Presentation of a Child With Focal Segmental Glomerulosclerosis and Multiple Malignancies

V. Jobanputra, V. D’Agati, S. Zacharoulis, 2022, Kidney international reports.

Disaster Response to the COVID-19 Pandemic for Patients with Kidney Disease in New York City.

R. Sampogna, T. Nickolas, A. Gharavi, 2020, Journal of the American Society of Nephrology : JASN.

Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy

F. Kronenberg, P. Gregersen, C. Wijmenga, 2023, Nature Genetics.

Erratum: Isolated polycystic liver disease genes define effectors of polycystin-1 function (The Journal of clinical investigation (2017) 127 5 (1772-1785) PII: 96729)

S. Mane, Murim Choi, R. Lifton, 2017 .

Implementation and Feasibility of Clinical Genome Sequencing Embedded Into the Outpatient Nephrology Care for Patients With Proteinuric Kidney Disease

V. Jobanputra, V. D’Agati, A. Abhyankar, 2023, Kidney international reports.

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

B. V. van Bon, R. Pfundt, L. Armengol, 2023, The Journal of clinical investigation.

Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome

S. Raychaudhuri, V. Tasic, R. Loos, 2023, Nature communications.

Erratum : Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations (The American Journal of Human Genetics (2017) 101(5) (789–802) (S0002929717303877) (10.1016/j.ajhg.2017.09.018))

D. Goldstein, S. Mane, G. Ardissino, 2017 .

Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis

A. Latos-Bieleńska, J. McKiernan, Shrikant Mane, 2023, Journal of the American Society of Nephrology : JASN.

Incorporating genetics services into adult kidney disease care

A. Gharavi, K. Kiryluk, S. Sanna-Cherchi, 2022, medRxiv.

CureGN Study Rationale, Design, and Methods: Establishing a Large Prospective Observational Study of Glomerular Disease.

Krzysztof Kiryluk, Matthias Kretzler, Brenda W Gillespie, 2019, American journal of kidney diseases : the official journal of the National Kidney Foundation.