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 2013

Meeting report of the 2017 KidGen Renal Genetics Symposium

por Jayasinghe, Kushani, Quinlan, Cathy, Stark, Zornitza, Patel, Chirag, Sampson, Matthew G., Saleem, Moin, Mallett, Andrew J.
Publicado 2018

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 2017

Quality assessment and refinement of chromatin accessibility data using a sequence-based predictive model

por Han, Seong Kyu, Muto, Yoshiharu, Wilson, Parker C., Humphreys, Benjamin D., Sampson, Matthew G., Chakravarti, Aravinda, Lee, Dongwon
Publicado 2022

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 2015

Assessment of the Needs of Nephrology Divisions to Implement Return of Clinically Significant Research Genetic Results: A Survey of Nephrotic Syndrome Study Network (NEPTUNE) Inves...

por Fishbein, Jennifer E., Dass, Loryn Wilson, Lienczewski, Chrysta, Kretzler, Matthias, Gbadegesin, Rasheed A., Roberts, J. Scott, Sampson, Matthew G., Uhlmann, Wendy R.
Publicado 2023

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 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 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 2016

ADAR regulates APOL1 via A-to-I RNA editing by inhibition of MDA5 activation in a paradoxical biological circuit

por Riella, Cristian V., McNulty, Michelle, Ribas, Guilherme T., Tattersfield, Calum F., Perez-Gill, Chandra, Eichinger, Felix, Kelly, Jessica, Chun, Justin, Subramanian, Balajikarthick, Guizelini, Dieval, Alper, Seth L., Pollak, Martin R., Sampson, Matthew G., Friedman, David J.
Publicado 2022

Mapping genomic regulation of kidney disease and traits through high-resolution and interpretable eQTLs

por Han, Seong Kyu, McNulty, Michelle T., Benway, Christopher J., Wen, Pei, Greenberg, Anya, Onuchic-Whitford, Ana C., Jang, Dongkeun, Flannick, Jason, Burtt, Noël P., Wilson, Parker C., Humphreys, Benjamin D., Wen, Xiaoquan, Han, Zhe, Lee, Dongwon, Sampson, Matthew G.
Publicado 2023

Effect of parental origin of damaging variants in pro-angiogenic genes on fetal growth in patients with congenital heart defects: Data and analyses

por Russell, Mark W., Moldenhauer, Julie S., Rychik, Jack, Burnham, Nancy B., Zullo, Erin, Parry, Samuel I., Simmons, Rebecca A., Elovitz, Michal A., Nicolson, Susan C., Linn, Rebecca L., Johnson, Mark P., Yu, Sunkyung, Sampson, Matthew G., Hakonarson, Hakon, Gaynor, J. William
Publicado 2019

Brazilian Network of Pediatric Nephrotic Syndrome (REBRASNI)

por Feltran, Luciana S., Watanabe, Andreia, Guaragna, Mara S., Machado, Ivan C., Casimiro, Fernanda M.S., Neves, Precil D.M.M., Palma, Lilian M., Varela, Patrícia, Vaisbich, Maria H., Marie, Suely K.N., Facincani, Inalda, Pesquero, João B., Belangero, Vera M.S., Sampson, Matthew G., Koch Nogueira, Paulo C., Onuchic, Luiz F.
Publicado 2019

Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis

por Graham, Sarah E., Nielsen, Jonas B., Zawistowski, Matthew, Zhou, Wei, Fritsche, Lars G., Gabrielsen, Maiken E., Skogholt, Anne Heidi, Surakka, Ida, Hornsby, Whitney E., Fermin, Damian, Larach, Daniel B., Kheterpal, Sachin, Brummett, Chad M., Lee, Seunggeun, Kang, Hyun Min, Abecasis, Goncalo R., Romundstad, Solfrid, Hallan, Stein, Sampson, Matthew G., Hveem, Kristian, Willer, Cristen J.
Publicado 2019

Urinary Epidermal Growth Factor as a Marker of Disease Progression in Children With Nephrotic Syndrome

por Gipson, Debbie S., Trachtman, Howard, Waldo, Anne, Gibson, Keisha L., Eddy, Sean, Dell, Katherine M., Srivastava, Tarak, Lemley, Kevin V., Greenbaum, Larry A., Hingorani, Sangeeta, Meyers, Kevin E., Kaskel, Frederick J., Reidy, Kimberly J., Sethna, Christine B., Tran, Cheryl L., Wang, Chia-shi, Tuttle, Katherine R., Oh, Gia, Neu, Alicia M., Brown, Elizabeth, Lin, Jen-Jar, Yee, Jennifer Lai, Roth, Therese M., Troost, Jonathan P., Gillespie, Brenda W., Sampson, Matthew G., Kretzler, Matthias, Ju, Wenjun
Publicado 2019

Comparing Kidney Health Outcomes in Children, Adolescents, and Adults With Focal Segmental Glomerulosclerosis

por Gipson, Debbie S., Troost, Jonathan P., Spino, Cathie, Attalla, Samara, Tarnoff, Joshua, Massengill, Susan, Lafayette, Richard, Vega-Warner, Virginia, Adler, Sharon, Gipson, Patrick, Elliott, Matthew, Kaskel, Frederick, Fermin, Damian, Moxey-Mims, Marva, Fine, Richard N., Brown, Elizabeth J., Reidy, Kimberly, Tuttle, Katherine, Gibson, Keisha, Lemley, Kevin V., Greenbaum, Larry A., Atkinson, Meredith A., Hingorani, Sangeeta, Srivastava, Tarak, Sethna, Christine B., Meyers, Kevin, Tran, Cheryl, Dell, Katherine M., Wang, Chia-shi, Yee, Jennifer Lai, Sampson, Matthew G., Gbadegesin, Rasheed, Lin, J. J., Brady, Tammy, Rheault, Michelle, Trachtman, Howard
Publicado 2022

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 2013

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

por Barry, Alexandra, McNulty, Michelle T., Jia, Xiaoyuan, Gupta, Yask, Debiec, Hanna, Luo, Yang, Nagano, China, Horinouchi, Tomoko, Jung, Seulgi, Colucci, Manuela, Ahram, Dina F., Mitrotti, Adele, Sinha, Aditi, Teeninga, Nynke, Jin, Gina, Shril, Shirlee, Caridi, Gianluca, Bodria, Monica, Lim, Tze Y., Westland, Rik, Zanoni, Francesca, Marasa, Maddalena, Turudic, Daniel, Giordano, Mario, Gesualdo, Loreto, Magistroni, Riccardo, Pisani, Isabella, Fiaccadori, Enrico, Reiterova, Jana, Maringhini, Silvio, Morello, William, Montini, Giovanni, Weng, Patricia L., Scolari, Francesco, Saraga, Marijan, Tasic, Velibor, Santoro, Domenica, van Wijk, Joanna A. E., Milošević, Danko, Kawai, Yosuke, Kiryluk, Krzysztof, Pollak, Martin R., Gharavi, Ali, Lin, Fangmin, Simœs e Silva, Ana Cristina, Loos, Ruth J. F., Kenny, Eimear E., Schreuder, Michiel F., Zurowska, Aleksandra, Dossier, Claire, Ariceta, Gema, Drozynska-Duklas, Magdalena, Hogan, Julien, Jankauskiene, Augustina, Hildebrandt, Friedhelm, Prikhodina, Larisa, Song, Kyuyoung, Bagga, Arvind, Cheong, Hae, Ghiggeri, Gian Marco, Vachvanichsanong, Prayong, Nozu, Kandai, Lee, Dongwon, Vivarelli, Marina, Raychaudhuri, Soumya, Tokunaga, Katsushi, Sanna-Cherchi, Simone, Ronco, Pierre, Iijima, Kazumoto, Sampson, Matthew G.
Publicado 2023

Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease

por Gupta, Yask, Friedman, David J., McNulty, Michelle T., Khan, Atlas, Lane, Brandon, Wang, Chen, Ke, Juntao, Jin, Gina, Wooden, Benjamin, Knob, Andrea L., Lim, Tze Y., Appel, Gerald B., Huggins, Kinsie, Liu, Lili, Mitrotti, Adele, Stangl, Megan C., Bomback, Andrew, Westland, Rik, Bodria, Monica, Marasa, Maddalena, Shang, Ning, Cohen, David J., Crew, Russell J., Morello, William, Canetta, Pietro, Radhakrishnan, Jai, Martino, Jeremiah, Liu, Qingxue, Chung, Wendy K., Espinoza, Angelica, Luo, Yuan, Wei, Wei-Qi, Feng, Qiping, Weng, Chunhua, Fang, Yilu, Kullo, Iftikhar J., Naderian, Mohammadreza, Limdi, Nita, Irvin, Marguerite R., Tiwari, Hemant, Mohan, Sumit, Rao, Maya, Dube, Geoffrey K., Chaudhary, Ninad S., Gutiérrez, Orlando M., Judd, Suzanne E., Cushman, Mary, Lange, Leslie A., Lange, Ethan M., Bivona, Daniel L., Verbitsky, Miguel, Winkler, Cheryl A., Kopp, Jeffrey B., Santoriello, Dominick, Batal, Ibrahim, Pinheiro, Sérgio Veloso Brant, Oliveira, Eduardo Araújo, Simoes e Silva, Ana Cristina, Pisani, Isabella, Fiaccadori, Enrico, Lin, Fangming, Gesualdo, Loreto, Amoroso, Antonio, Ghiggeri, Gian Marco, D’Agati, Vivette D., Magistroni, Riccardo, Kenny, Eimear E., Loos, Ruth J. F., Montini, Giovanni, Hildebrandt, Friedhelm, Paul, Dirk S., Petrovski, Slavé, Goldstein, David B., Kretzler, Matthias, Gbadegesin, Rasheed, Gharavi, Ali G., Kiryluk, Krzysztof, Sampson, Matthew G., Pollak, Martin R., Sanna-Cherchi, Simone
Publicado 2023

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

por Verbitsky, Miguel, Westland, Rik, Perez, Alejandra, Kiryluk, Krzysztof, Liu, Qingxue, Krithivasan, Priya, Mitrotti, Adele, Fasel, David A., Batourina, Ekaterina, Sampson, Matthew G., Bodria, Monica, Werth, Max, Kao, Charlly, Martino, Jeremiah, Capone, Valentina P., Vivante, Asaf, Shril, Shirlee, Kil, Byum Hee, Marasa, Maddalena, Zhang, Jun Y., Na, Young-Ji, Lim, Tze Y., Ahram, Dina, Weng, Patricia L., Heinzen, Erin L., Carrea, Alba, Piaggio, Giorgio, Gesualdo, Loreto, Manca, Valeria, Masnata, Giuseppe, Gigante, Maddalena, Cusi, Daniele, Izzi, Claudia, Scolari, Francesco, van Wijk, Joanna A.E., Saraga, Marijan, Santoro, Domenico, Conti, Giovanni, Zamboli, Pasquale, White, Hope, Drozdz, Dorota, Zachwieja, Katarzyna, Miklaszewska, Monika, Tkaczyk, Marcin, Tomczyk, Daria, Krakowska, Anna, Sikora, Przemyslaw, Jarmoliński, Tomasz, Borszewska-Kornacka, Maria K., Pawluch, Robert, Szczepanska, Maria, Adamczyk, Piotr, Mizerska-Wasiak, Malgorzata, Krzemien, Grazyna, Szmigielska, Agnieszka, Zaniew, Marcin, Dobson, Mark G., Darlow, John M., Puri, Prem, Barton, David E., Furth, Susan L., Warady, Bradley A., Gucev, Zoran, Lozanovski, Vladimir J., Tasic, Velibor, Pisani, Isabella, Allegri, Landino, Rodas, Lida M., Campistol, Josep M., Jeanpierre, Cécile, Alam, Shumyle, Casale, Pasquale, Wong, Craig S., Lin, Fangming, Miranda, Débora M., Oliveira, Eduardo A., Simões-e-Silva, Ana Cristina, Barasch, Jonathan M., Levy, Brynn, Wu, Nan, Hildebrandt, Friedhelm, Ghiggeri, Gian Marco, Latos-Bielenska, Anna, Materna-Kiryluk, Anna, Zhang, Feng, Hakonarson, Hakon, Papaioannou, Virginia E., Mendelsohn, Cathy L., Gharavi, Ali G., Sanna-Cherchi, Simone
Publicado 2018