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

Por Afshinnia, Farsad, Vega-Warner, Virginia, Killen, Paul
Publicado em 2013

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

Por Afshinnia, Farsad, Vega-Warner, Virginia, Killen, Paul
Publicado no Clin Kidney J (2013)

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

Por Chernin, Gil, Heeringa, Saskia F., Vega-Warner, Virginia, Schoeb, Dominik S., Nürnberg, Peter, Hildebrandt, Friedhelm
Publicado em 2009

Mutation Analysis of NPHS1 in a Worldwide Cohort of Congenital Nephrotic Syndrome Patients

Por Ovunc, Bugsu, Ashraf, Shazia, Vega-Warner, Virginia, Bockenhauer, Detlef, Elshakhs, Neveen A Soliman, Joseph, Mark, Hildebrandt, Friedhelm
Publicado no Nephron Clin Pract (2012)

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

Por Wang, Joseph, Vogt, Beth, Sethi, Sidharth Kumar, Sampson, Matthew G., Vega-Warner, Virginia, Otto, Edgar A., Raina, Rupesh
Publicado no Kidney Int Rep (2017)

Steroid-resistant nephrotic syndrome: impact of genetic testing

Por Kari, Jameela A., El-Desoky, Sherif M., Gari, Mamdooh, Malik, Khalid, Vega-Warner, Virginia, Lovric, Svjetlana, Bockenhauer, Detlef
Publicado no Ann Saudi Med (2013)

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

Por Ma, Sara L., Vega-Warner, Virginia, Gillies, Christopher, Sampson, Matthew G., Kher, Vijay, Sethi, Sidharth K., Otto, Edgar A.
Publicado no PLoS One (2015)

Genotype/Phenotype Correlation in Nephrotic Syndrome Caused by WT1 Mutations

Por Chernin, Gil, Vega-Warner, Virginia, Schoeb, Dominik S., Heeringa, Saskia F., Ovunc, Bugsu, Saisawat, Pawaree, Cleper, Roxana, Ozaltin, Fatih, Hildebrandt, Friedhelm
Publicado em 2010

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

Por Chernin, Gil, Heeringa, Saskia F., Gbadegesin, Rasheed, Liu, Jinhong, Hinkes, Bernward G., Vlangos, Christopher N., Vega-Warner, Virginia, Hildebrandt, Friedhelm
Publicado no Pediatr Nephrol (2008)

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

Por Montgomery, Emma, Sayer, John A., Baines, Laura A., Hynes, Ann Marie, Vega-Warner, Virginia, Johnson, Sally, Goodship, Judith A., Otto, Edgar A.
Publicado no BMC Med Genet (2015)

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

Por Sampson, Matthew G., Gillies, Christopher E., Robertson, Catherine C., Crawford, Brendan, Vega-Warner, Virginia, Otto, Edgar A., Kretzler, Matthias, Kang, Hyun Min
Publicado no J Am Soc Nephrol (2016)

A Familial Infantile Renal Failure

Por Sethi, Sidharth K., Wadhwani, Nikita, Jha, Pranaw, Duggal, Rajan, Vega-Warner, Virginia, Raina, Rupesh, Bansal, Shyam B., Kher, Vijay, Sampson, Matthew G., Otto, Edgar A.
Publicado no Kidney Int Rep (2016)

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

Por Saisawat, Pawaree, Tasic, Velibor, Vega-Warner, Virginia, Kehinde, Elijah O., Günther, Barbara, Airik, Rannar, Innis, Jeffrey W., Hoskins, Bethan E., Hoefele, Julia, Otto, Edgar A., Hildebrandt, Friedhelm
Publicado em 2011

Exome Sequencing Reveals Cubilin Mutation as a Single-Gene Cause of Proteinuria

Por Ovunc, Bugsu, Otto, Edgar A., Vega-Warner, Virginia, Saisawat, Pawaree, Ashraf, Shazia, Ramaswami, Gokul, Fathy, Hanan M., Schoeb, Dominik, Chernin, Gil, Lyons, Robert H., Yilmaz, Engin, Hildebrandt, Friedhelm
Publicado em 2011

Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome

Por Brancati, Francesco, Camerota, Letizia, Colao, Emma, Vega-Warner, Virginia, Zhao, Xiangzhong, Zhang, Ruixiao, Bottillo, Irene, Castori, Marco, Caglioti, Alfredo, Sangiuolo, Federica, Novelli, Giuseppe, Perrotti, Nicola, Otto, Edgar A.
Publicado no Eur J Hum Genet (2018)

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

Por Gillies, Christopher E., Otto, Edgar A., Vega-Warner, Virginia, Robertson, Catherine C., Sanna-Cherchi, Simone, Gharavi, Ali, Crawford, Brendan, Bhimma, Rajendra, Winkler, Cheryl, Kang, Hyun Min, Sampson, Matthew G.
Publicado no BMC Bioinformatics (2016)

Rapid Detection of Monogenic Causes of Childhood-Onset Steroid-Resistant Nephrotic Syndrome

Por Lovric, Svjetlana, Fang, Humphrey, Vega-Warner, Virginia, Sadowski, Carolin E., Gee, Heon Yung, Halbritter, Jan, Ashraf, Shazia, Saisawat, Pawaree, Soliman, Neveen A., Kari, Jameela A., Otto, Edgar A., Hildebrandt, Friedhelm
Publicado em 2014

NPHS2 V260E Is a Frequent Cause of Steroid-Resistant Nephrotic Syndrome in Black South African Children

Por Asharam, Kareshma, Bhimma, Rajendra, David, Victor A., Coovadia, Hoosen M., Qulu, Wenkosi P., Naicker, Thajasvarie, Gillies, Christopher E., Vega-Warner, Virginia, Johnson, Randall C., Limou, Sophie, Kopp, Jeffrey B., Sampson, Mathew, Nelson, George W., Winkler, Cheryl A.
Publicado no Kidney Int Rep (2018)

Integrin α(3) Mutations with Kidney, Lung, and Skin Disease

Por Has, Cristina, Spartà, Giuseppina, Kiritsi, Dimitra, Weibel, Lisa, Moeller, Alexander, Vega-Warner, Virginia, Waters, Aoife, He, Yinghong, Anikster, Yair, Esser, Philipp, Straub, Beate K., Hausser, Ingrid, Bockenhauer, Detlef, Dekel, Benjamin, Hildebrandt, Friedhelm, Bruckner-Tuderman, Leena, Laube, Guido F.
Publicado em 2012

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

Por Schoeb, Dominik S., Chernin, Gil, Heeringa, Saskia F., Matejas, Verena, Held, Susanne, Vega-Warner, Virginia, Bockenhauer, Detlef, Vlangos, Christopher N., Moorani, Khemchand N., Neuhaus, Thomas J., Kari, Jameela A., MacDonald, James, Saisawat, Pawaree, Ashraf, Shazia, Ovunc, Bugsu, Zenker, Martin, Hildebrandt, Friedhelm
Publicado em 2010