Actualizing the Benefits of Genomic Discovery in Pediatric Nephrology

Por Sampson, Matthew G.
Publicado no J Pediatr Genet (2015)

Genes, Exomes, Genomes, Copy Number: What is Their Future in Pediatric Renal Disease

Por Sampson, Matthew G., Jüppner, Harald
Publicado no Curr Pediatr Rep (2012)

Opportunities and challenges of genotyping of patients with nephrotic syndrome in the genomic era

Por Sampson, Matthew G., Pollak, Martin R.
Publicado no Semin Nephrol (2015)

Defining nephrotic syndrome from an integrative genomics perspective

Por Sampson, Matthew G., Hodgin, Jeffrey B., Kretzler, Matthias
Publicado no Pediatr Nephrol (2014)

GeneVetter: a web tool for quantitative monogenic assessment of rare diseases

Por Gillies, Christopher E., Robertson, Catherine C., Sampson, Matthew G., Kang, Hyun Min
Publicado no Bioinformatics (2015)

Gene-level Integrated Metric of negative Selection (GIMS) Prioritizes Candidate Genes for Nephrotic Syndrome

Por Sampson, Matthew G., Gillies, Christopher E., Ju, Wenjun, Kretzler, Matthias, Kang, Hyun Min
Publicado em 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)

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)

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)

Renal and Cardiovascular Morbidities Associated with APOL1 Status among African-American and Non-African-American Children with Focal Segmental Glomerulosclerosis

Por Woroniecki, Robert P., Ng, Derek K., Limou, Sophie, Winkler, Cheryl A., Reidy, Kimberly J., Mitsnefes, Mark, Sampson, Matthew G., Wong, Craig S., Warady, Bradley A., Furth, Susan L., Kopp, Jeffrey B., Kaskel, Frederick J.
Publicado no Front Pediatr (2016)

A role for genetic susceptibility in sporadic focal segmental glomerulosclerosis

Por Yu, Haiyang, Artomov, Mykyta, Brähler, Sebastian, Stander, M. Christine, Shamsan, Ghaidan, Sampson, Matthew G., White, J. Michael, Kretzler, Matthias, Miner, Jeffrey H., Jain, Sanjay, Winkler, Cheryl A., Mitra, Robi D., Kopp, Jeffrey B., Daly, Mark J., Shaw, Andrey S.
Publicado no J Clin Invest (2016)

A role for genetic susceptibility in sporadic focal segmental glomerulosclerosis

Por Yu, Haiyang, Artomov, Mykyta, Brähler, Sebastian, Stander, M. Christine, Shamsan, Ghaidan, Sampson, Matthew G., White, J. Michael, Kretzler, Matthias, Miner, Jeffrey H., Jain, Sanjay, Winkler, Cheryl A., Mitra, Robi D., Kopp, Jeffrey B., Daly, Mark J., Shaw, Andrey S.
Publicado no J Clin Invest (2016)

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

Por Sampson, Matthew G., Robertson, Catherine C., Martini, Sebastian, Mariani, Laura H., Lemley, Kevin V., Gillies, Christopher E., Otto, Edgar A., Kopp, Jeffrey B., Randolph, Anne, Vega-Warner, Virginia, Eichinger, Felix, Nair, Viji, Gipson, Debbie S., Cattran, Daniel C., Johnstone, Duncan B., O’Toole, John F., Bagnasco, Serena M., Song, Peter X., Barisoni, Laura, Troost, Jonathan P., Kretzler, Matthias, Sedor, John R.
Publicado no J Am Soc Nephrol (2016)

Tissue transcriptome-driven identification of epidermal growth factor as a chronic kidney disease biomarker

Por Ju, Wenjun, Nair, Viji, Smith, Shahaan, Zhu, Li, Shedden, Kerby, Song, Peter X. K., Mariani, Laura H., Eichinger, Felix H., Berthier, Celine C., Randolph, Ann, Lai, Jennifer Yi-Chun, Zhou, Yan, Hawkins, Jennifer J., Bitzer, Markus, Sampson, Matthew G., Thier, Martina, Solier, Corinne, Duran-Pacheco, Gonzalo C., Duchateau-Nguyen, Guillemette, Essioux, Laurent, Schott, Brigitte, Formentini, Ivan, Magnone, Maria C., Bobadilla, Maria, Cohen, Clemens D., Bagnasco, Serena M., Barisoni, Laura, Lv, Jicheng, Zhang, Hong, Wang, Hai-Yan, Brosius, Frank C., Gadegbeku, Crystal A., Kretzler, Matthias
Publicado no Sci Transl Med (2015)

Design of the Nephrotic Syndrome Study Network (NEPTUNE) to evaluate primary glomerular nephropathy by a multi-disciplinary approach

Por Gadegbeku, Crystal A., Gipson, Debbie S., Holzman, Larry, Ojo, Akinlolu O., Song, Peter, Barisoni, Laura, Sampson, Matthew G., Kopp, Jeffrey, Lemley, Kevin V., Nelson, Peter, Lienczewski, Chrysta, Adler, Sharon, Appel, Gerald, Cattran, Daniel, Choi, Michael, Contreras, Gabriel, Dell, Katherine, Fervenza, Fernando C., Gibson, Keisha, Greenbaum, Larry A., Hernandez, Joel, Hewitt, Stephen, Hingorani, Sangeeta, Hladunewich, Michelle, Hogan, Marie, Hogan, Susan, Kaskel, Frederick, Lieske, John, Meyers, Kevin E.C., Nachman, Patrick, Nast, Cynthia, Neu, Alicia M., Reich, Heather, Sedor, John, Sethna, Christine, Trachtman, Howard, Tuttle, Katherine, Zhdanova, Olga, Zilleruelo, Gastòn E., Kretzler, Matthias
Publicado em 2013

Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations

Por Sanna-Cherchi, Simone, Kiryluk, Krzysztof, Burgess, Katelyn E., Bodria, Monica, Sampson, Matthew G., Hadley, Dexter, Nees, Shannon N., Verbitsky, Miguel, Perry, Brittany J., Sterken, Roel, Lozanovski, Vladimir J., Materna-Kiryluk, Anna, Barlassina, Cristina, Kini, Akshata, Corbani, Valentina, Carrea, Alba, Somenzi, Danio, Murtas, Corrado, Ristoska-Bojkovska, Nadica, Izzi, Claudia, Bianco, Beatrice, Zaniew, Marcin, Flogelova, Hana, Weng, Patricia L., Kacak, Nilgun, Giberti, Stefania, Gigante, Maddalena, Arapovic, Adela, Drnasin, Kristina, Caridi, Gianluca, Curioni, Simona, Allegri, Franca, Ammenti, Anita, Ferretti, Stefania, Goj, Vinicio, Bernardo, Luca, Jobanputra, Vaidehi, Chung, Wendy K., Lifton, Richard P., Sanders, Stephan, State, Matthew, Clark, Lorraine N., Saraga, Marijan, Padmanabhan, Sandosh, Dominiczak, Anna F., Foroud, Tatiana, Gesualdo, Loreto, Gucev, Zoran, Allegri, Landino, Latos-Bielenska, Anna, Cusi, Daniele, Scolari, Francesco, Tasic, Velibor, Hakonarson, Hakon, Ghiggeri, Gian Marco, Gharavi, Ali G.
Publicado em 2012

Complete Remission in the Nephrotic Syndrome Study Network

Por Gipson, Debbie S., Troost, Jonathan P., Lafayette, Richard A., Hladunewich, Michelle A., Trachtman, Howard, Gadegbeku, Crystal A., Sedor, John R., Holzman, Lawrence B., Moxey-Mims, Marva M., Perumal, Kalyani, Kaskel, Frederick J., Nelson, Peter J., Tuttle, Katherine R., Bagnasco, Serena M., Hogan, Marie C., Dell, Katherine M., Appel, Gerald B., Lieske, John C., Ilori, Titilayo O., Sethna, Christine B., Fervenza, Fernando C., Hogan, Susan L., Nachman, Patrick H., Rosenberg, Avi Z., Greenbaum, Larry A., Meyers, Kevin E.C., Hewitt, Stephen M., Choi, Michael J., Kopp, Jeffrey B., Zhdanova, Olga, Hodgin, Jeffrey B., Johnstone, Duncan B., Adler, Sharon G., Avila-Casado, Carmen, Neu, Alicia M., Hingorani, Sangeeta R., Lemley, Kevin V., Nast, Cynthia C., Brady, Tammy M., Barisoni-Thomas, Laura, Fornoni, Alessia, Jennette, J. Charles, Cattran, Daniel C., Palmer, Matthew B., Gibson, Keisha L., Reich, Heather N., Mokrzycki, Michele H., Sambandam, Kamalanathan K., Zilleruelo, Gaston E., Licht, Christoph, Sampson, Matthew G., Song, Peter, Mariani, Laura H., Kretzler, Matthias
Publicado no Clin J Am Soc Nephrol (2016)

A reference panel of 64,976 haplotypes for genotype imputation

Por McCarthy, Shane, Das, Sayantan, Kretzschmar, Warren, Delaneau, Olivier, Wood, Andrew R., Teumer, Alexander, Kang, Hyun Min, Fuchsberger, Christian, Danecek, Petr, Sharp, Kevin, Luo, Yang, Sidore, Carlo, Kwong, Alan, Timpson, Nicholas, Koskinen, Seppo, Vrieze, Scott, Scott, Laura J., Zhang, He, Mahajan, Anubha, Veldink, Jan, Peters, Ulrike, Pato, Carlos, van Duijn, Cornelia M., Gillies, Christopher E., Gandin, Ilaria, Mezzavilla, Massimo, Gilly, Arthur, Cocca, Massimiliano, Traglia, Michela, Angius, Andrea, Barrett, Jeffrey, Boomsma, Dorret I., Branham, Kari, Breen, Gerome, Brummet, Chad, Busonero, Fabio, Campbell, Harry, Chan, Andrew, Chen, Sai, Chew, Emily, Collins, Francis S., Corbin, Laura, Davey Smith, George, Dedoussis, George, Dorr, Marcus, Farmaki, Aliki-Eleni, Ferrucci, Luigi, Forer, Lukas, Fraser, Ross M., Gabriel, Stacey, Levy, Shawn, Groop, Leif, Harrison, Tabitha, Hattersley, Andrew, Holmen, Oddgeir L., Hveem, Kristian, Kretzler, Matthias, Lee, James, McGue, Matt, Meitinger, Thomas, Melzer, David, Min, Josine, Mohlke, Karen L., Vincent, John, Nauck, Matthias, Nickerson, Deborah, Palotie, Aarno, Pato, Michele, Pirastu, Nicola, McInnis, Melvin, Richards, Brent, Sala, Cinzia, Salomaa, Veikko, Schlessinger, David, Schoenheer, Sebastian, Slagboom, P Eline, Small, Kerrin, Spector, Timothy, Stambolian, Dwight, Tuke, Marcus, Tuomilehto, Jaakko, Van den Berg, Leonard, Van Rheenen, Wouter, Volker, Uwe, Wijmenga, Cisca, Toniolo, Daniela, Zeggini, Eleftheria, Gasparini, Paolo, Sampson, Matthew G., Wilson, James F., Frayling, Timothy, de Bakker, Paul, Swertz, Morris A., McCarroll, Steven, Kooperberg, Charles, Dekker, Annelot, Altshuler, David, Willer, Cristen, Iacono, William, Ripatti, Samuli, Soranzo, Nicole, Walter, Klaudia, Swaroop, Anand, Cucca, Francesco, Anderson, Carl, Boehnke, Michael, McCarthy, Mark I., Durbin, Richard, Abecasis, Gonçalo, Marchini, Jonathan
Publicado no Nat Genet (2016)