Lista de obras -

A Case of Hyperphosphatemia and Elevated Fibroblast Growth Factor 23: A Brief Review of Hyperphosphatemia and Fibroblast Growth Factor 23 Pathway

artículo científico publicado en 2017

A Familial Infantile Renal Failure

artículo científico publicado en 2016

A boy with proteinuria and focal global glomerulosclerosis: Answers

A boy with proteinuria and focal global glomerulosclerosis: Question

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome

artículo científico publicado en 2014

A systematic approach to mapping recessive disease genes in individuals from outbred populations

artículo científico publicado en 2009

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

artículo científico publicado en 2013

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

artículo científico publicado en 2013

Adequate use of allele frequencies in Hispanics--a problem elucidated in nephrotic syndrome

artículo científico publicado en 2009

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

artículo científico publicado en 2011

Differential proteomic analysis of proteins induced by glucocorticoids in cultured murine podocytes

artículo científico publicado en 2005

Erratum to: Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability

article

Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria

artículo científico publicado en 2011

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

FAT1 mutations cause a glomerulotubular nephropathy

artículo científico publicado en 2016

Focal segmental glomerulosclerosis in association with neurofibromatosis type 1: a case report and proposed molecular pathways

artículo científico publicado en 2013

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

artículo científico publicado en 2017

Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations

artículo científico publicado en 2010

Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis

artículo científico publicado en 2011

Induction of antioxidant enzymes in murine podocytes precedes injury by puromycin aminonucleoside

artículo científico publicado en 2004

Integrative Genomics Identifies Novel Associations with APOL1 Risk Genotypes in Black NEPTUNE Subjects

artículo científico publicado en 2015

Integrin α3 mutations with kidney, lung, and skin disease

artículo científico publicado en 2012

KANK deficiency leads to podocyte dysfunction and nephrotic syndrome

artículo científico publicado en 2015

Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome

artículo científico publicado en 2008

Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients.

artículo científico publicado en 2012

Mutations in EMP2 cause childhood-onset nephrotic syndrome

artículo científico publicado en 2014

NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome

artículo científico publicado en 2012

Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)

artículo científico publicado en 2010

Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report

artículo científico publicado en 2015

Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome

artículo científico publicado en 2014

Respiratory-chain deficiency presenting as diffuse mesangial sclerosis with NPHS3 mutation

artículo científico publicado en 2011

Steroid-resistant nephrotic syndrome: impact of genetic testing

artículo científico publicado en 2013

Using Population Genetics to Interrogate the Monogenic Nephrotic Syndrome Diagnosis in a Case Cohort

artículo científico publicado en 2015

Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets

artículo científico publicado en 2015

Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies

artículo científico publicado en 2013

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

artículo científico publicado en 2016

Lista de obras de

A Case of Hyperphosphatemia and Elevated Fibroblast Growth Factor 23: A Brief Review of Hyperphosphatemia and Fibroblast Growth Factor 23 Pathway

A Familial Infantile Renal Failure

A boy with proteinuria and focal global glomerulosclerosis: Answers

A boy with proteinuria and focal global glomerulosclerosis: Question

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome

A systematic approach to mapping recessive disease genes in individuals from outbred populations

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

Adequate use of allele frequencies in Hispanics--a problem elucidated in nephrotic syndrome

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

Differential proteomic analysis of proteins induced by glucocorticoids in cultured murine podocytes

Erratum to: Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability

Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria

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

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

FAT1 mutations cause a glomerulotubular nephropathy

Focal segmental glomerulosclerosis in association with neurofibromatosis type 1: a case report and proposed molecular pathways

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations

Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis

Induction of antioxidant enzymes in murine podocytes precedes injury by puromycin aminonucleoside

Integrative Genomics Identifies Novel Associations with APOL1 Risk Genotypes in Black NEPTUNE Subjects

Integrin α3 mutations with kidney, lung, and skin disease

KANK deficiency leads to podocyte dysfunction and nephrotic syndrome

Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome

Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients.

Mutations in EMP2 cause childhood-onset nephrotic syndrome

NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome

Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)

Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report

Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome

Respiratory-chain deficiency presenting as diffuse mesangial sclerosis with NPHS3 mutation

Steroid-resistant nephrotic syndrome: impact of genetic testing

Using Population Genetics to Interrogate the Monogenic Nephrotic Syndrome Diagnosis in a Case Cohort

Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets

Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies

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