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Matthew Sampson, M.D.

Title
Institution
Department
Address

Biography
Duke UniversityBS05/2000Cell & Molecular Biology
University of VirginiaMD05/2005
Children's Hospital of Philadelphia2008Pediatrics Residency
Children's Hospital of Philadelphia2011Pediatric Nephrology Fellowship
University of PennsylvaniaMSCE2011Epidemiology - Human Genetics

Featured Content

Bibliographic
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Eales JM, Jiang X, Xu X, Saluja S, Akbarov A, Cano-Gamez E, McNulty MT, Finan C, Guo H, Wystrychowski W, Szulinska M, Thomas HB, Pramanik S, Chopade S, Prestes PR, Wise I, Evangelou E, Salehi M, Shakanti Y, Ekholm M, Denniff M, Nazgiewicz A, Eichinger F, Godfrey B, Antczak A, Glyda M, Król R, Eyre S, Brown J, Berzuini C, Bowes J, Caulfield M, Zukowska-Szczechowska E, Zywiec J, Bogdanski P, Kretzler M, Woolf AS, Talavera D, Keavney B, Maffia P, Guzik TJ, O'Keefe RT, Trynka G, Samani NJ, Hingorani A, Sampson MG, Morris AP, Charchar FJ, Tomaszewski M. Uncovering genetic mechanisms of hypertension through multi-omic analysis of the kidney. Nat Genet. 2021 05; 53(5):630-637. PMID: 33958779.
    Citations:    Fields:    Translation:HumansCells
  2. Lane BM, Murray S, Benson K, Bierzynska A, Chryst-Stangl M, Wang L, Wu G, Cavalleri G, Doyle B, Fennelly N, Dorman A, Conlon S, Vega-Warner V, Fermin D, Vijayan P, Qureshi MA, Shril S, Barua M, Hildebrandt F, Pollak M, Howell D, Sampson MG, Saleem M, Conlon PJ, Spurney R, Gbadegesin R. A Rare Autosomal Dominant Variant in Regulator of Calcineurin Type 1 (RCAN1) Gene Confers Enhanced Calcineurin Activity and May Cause FSGS. J Am Soc Nephrol. 2021 Apr 16. PMID: 33863784.
    Citations:    Fields:    
  3. Freedman BI, Kopp JB, Sampson MG, Susztak K. APOL1 at 10 years: progress and next steps. Kidney Int. 2021 06; 99(6):1296-1302. PMID: 33794228.
    Citations: 1     Fields:    Translation:Humans
  4. Zee J, McNulty MT, Hodgin JB, Zhdanova O, Hingorani S, Jefferson JA, Gibson KL, Trachtman H, Fornoni A, Dell KM, Reich HN, Bagnasco S, Greenbaum LA, Lafayette RA, Gipson DS, Brown E, Kretzler M, Appel G, Sambandam KK, Tuttle KR, Chen D, Atkinson MA, Hogan MC, Kaskel FJ, Meyers KE, O'Toole J, Srivastava T, Sethna CB, Hladunewich MA, Lin JJ, Nast CC, Derebail VK, Patel J, Vento S, Holzman LB, Athavale AM, Adler SG, Lemley KV, Lieske JC, Hogan JJ, Gadegbeku CA, Fervenza FC, Wang CS, Matar RB, Singer P, Kopp JB, Barisoni L, Sampson MG. APOL1 genotype-associated morphologic changes among patients with focal segmental glomerulosclerosis. Pediatr Nephrol. 2021 Sep; 36(9):2747-2757. PMID: 33646395.
    Citations:    Fields:    
  5. Verbitsky M, Krithivasan P, Batourina E, Khan A, Graham SE, Marasà M, Kim H, Lim TY, Weng PL, Sánchez-Rodríguez E, Mitrotti A, Ahram DF, Zanoni F, Fasel DA, Westland R, Sampson MG, Zhang JY, Bodria M, Kil BH, Shril S, Gesualdo L, Torri F, Scolari F, Izzi C, van Wijk JAE, Saraga M, Santoro D, Conti G, Barton DE, Dobson MG, Puri P, Furth SL, Warady BA, Pisani I, Fiaccadori E, Allegri L, Degl'Innocenti ML, Piaggio G, Alam S, Gigante M, Zaza G, Esposito P, Lin F, Simões-E-Silva AC, Brodkiewicz A, Drozdz D, Zachwieja K, Miklaszewska M, Szczepanska M, Adamczyk P, Tkaczyk M, Tomczyk D, Sikora P, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Lozanovski VJ, Gucev Z, Ionita-Laza I, Stanaway IB, Crosslin DR, Wong CS, Hildebrandt F, Barasch J, Kenny EE, Loos RJF, Levy B, Ghiggeri GM, Hakonarson H, Latos-Bielenska A, Materna-Kiryluk A, Darlow JM, Tasic V, Willer C, Kiryluk K, Sanna-Cherchi S, Mendelsohn CL, Gharavi AG. Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux. J Am Soc Nephrol. 2021 Feb 17. PMID: 33597122.
    Citations:    Fields:    
  6. Gale DP, Mallett A, Patel C, Sneddon TP, Rehm HL, Sampson MG, Bockenhauer D. Diagnoses of uncertain significance: kidney genetics in the 21st century. Nat Rev Nephrol. 2020 11; 16(11):616-618. PMID: 32265521.
    Citations: 1     Fields:    Translation:Humans
  7. Zhao Y, Sampson MG, Wen X. Quantify and control reproducibility in high-throughput experiments. Nat Methods. 2020 12; 17(12):1207-1213. PMID: 33046893.
    Citations:    Fields:    Translation:HumansCells
  8. Jia X, Yamamura T, Gbadegesin R, McNulty MT, Song K, Nagano C, Hitomi Y, Lee D, Aiba Y, Khor SS, Ueno K, Kawai Y, Nagasaki M, Noiri E, Horinouchi T, Kaito H, Hamada R, Okamoto T, Kamei K, Kaku Y, Fujimaru R, Tanaka R, Shima Y, Baek J, Kang HG, Ha IS, Han KH, Yang EM, Abeyagunawardena A, Lane B, Chryst-Stangl M, Esezobor C, Solarin A, Dossier C, Deschênes G, Vivarelli M, Debiec H, Ishikura K, Matsuo M, Nozu K, Ronco P, Cheong HI, Sampson MG, Tokunaga K, Iijima K. Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome. Kidney Int. 2020 11; 98(5):1308-1322. PMID: 32554042.
    Citations: 2     Fields:    Translation:Humans
  9. Sampson MG, Fox CS. Introduction to Genomics of Kidney Disease: Implications, Discovery, and Translation. Clin J Am Soc Nephrol. 2020 02 07; 15(2):267. PMID: 31992576.
    Citations:    Fields:    Translation:Humans
  10. Gipson DS, Trachtman H, Waldo A, Gibson KL, Eddy S, Dell KM, Srivastava T, Lemley KV, Greenbaum LA, Hingorani S, Meyers KE, Kaskel FJ, Reidy KJ, Sethna CB, Tran CL, Wang CS, Tuttle KR, Oh G, Neu AM, Brown E, Lin JJ, Yee JL, Roth TM, Troost JP, Gillespie BW, Sampson MG, Kretzler M, Ju W. Urinary Epidermal Growth Factor as a Marker of Disease Progression in Children With Nephrotic Syndrome. Kidney Int Rep. 2020 Apr; 5(4):414-425. PMID: 32280839.
    Citations:    
  11. Sampson MG, Kang HM. Using and producing publicly available genomic data to accelerate discovery in nephrology. Nat Rev Nephrol. 2019 09; 15(9):523-524. PMID: 31182850.
    Citations: 3     Fields:    Translation:HumansCells
  12. Sampson MG, Kang HM. Author Correction: Using and producing publicly available genomic data to accelerate discovery in nephrology. Nat Rev Nephrol. 2019 Sep; 15(9):590. PMID: 31363178.
    Citations:    Fields:    
  13. Wood OR, Else T, Sampson MG. Unique association of multiple endocrine neoplasia 2A and congenital anomalies of the kidney and urinary tract in a child with a RET mutation. BMJ Case Rep. 2019 Aug 30; 12(8). PMID: 31471357.
    Citations:    Fields:    Translation:Humans
  14. Russell MW, Moldenhauer JS, Rychik J, Burnham NB, Zullo E, Parry SI, Simmons RA, Elovitz MA, Nicolson SC, Linn RL, Johnson MP, Yu S, Sampson MG, Hakonarson H, Gaynor JW. Effect of parental origin of damaging variants in pro-angiogenic genes on fetal growth in patients with congenital heart defects: Data and analyses. Data Brief. 2019 Aug; 25:104311. PMID: 31453292.
    Citations: 1     
  15. Russell MW, Moldenhauer JS, Rychik J, Burnham NB, Zullo E, Parry SI, Simmons RA, Elovitz MA, Nicolson SC, Linn RL, Johnson MP, Yu S, Sampson MG, Hakonarson H, Gaynor JW. Damaging Variants in Proangiogenic Genes Impair Growth in Fetuses with Cardiac Defects. J Pediatr. 2019 10; 213:103-109. PMID: 31227283.
    Citations: 3     Fields:    Translation:Humans
  16. Espiritu EB, Jiang H, Moreau-Marquis S, Sullivan M, Yan K, Beer Stolz D, Sampson MG, Hukriede NA, Swiatecka-Urban A. The human nephrin Y1139RSL motif is essential for podocyte foot process organization and slit diaphragm formation during glomerular development. J Biol Chem. 2019 07 12; 294(28):10773-10788. PMID: 31152064.
    Citations:    Fields:    Translation:HumansAnimalsCells
  17. Steers NJ, Li Y, Drace Z, D'Addario JA, Fischman C, Liu L, Xu K, Na YJ, Neugut YD, Zhang JY, Sterken R, Balderes O, Bradbury D, Ozturk N, Ozay F, Goswami S, Mehl K, Wold J, Jelloul FZ, Rohanizadegan M, Gillies CE, Vasilescu EM, Vlad G, Ko YA, Mohan S, Radhakrishnan J, Cohen DJ, Ratner LE, Scolari F, Susztak K, Sampson MG, Deaglio S, Caliskan Y, Barasch J, Courtney AE, Maxwell AP, McKnight AJ, Ionita-Laza I, Bakker SJL, Snieder H, de Borst MH, D'Agati V, Amoroso A, Gharavi AG, Kiryluk K. Genomic Mismatch at LIMS1 Locus and Kidney Allograft Rejection. N Engl J Med. 2019 05 16; 380(20):1918-1928. PMID: 31091373.
    Citations: 14     Fields:    Translation:Humans
  18. Nihalani D, Solanki AK, Arif E, Srivastava P, Rahman B, Zuo X, Dang Y, Fogelgren B, Fermin D, Gillies CE, Sampson MG, Lipschutz JH. Disruption of the exocyst induces podocyte loss and dysfunction. J Biol Chem. 2019 06 28; 294(26):10104-10119. PMID: 31073028.
    Citations: 6     Fields:    Translation:HumansAnimalsCells
  19. Graham SE, Nielsen JB, Zawistowski M, Zhou W, Fritsche LG, Gabrielsen ME, Skogholt AH, Surakka I, Hornsby WE, Fermin D, Larach DB, Kheterpal S, Brummett CM, Lee S, Kang HM, Abecasis GR, Romundstad S, Hallan S, Sampson MG, Hveem K, Willer CJ. Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis. Nat Commun. 2019 04 23; 10(1):1847. PMID: 31015462.
    Citations: 9     Fields:    Translation:Humans
  20. Watanabe A, Feltran LS, Sampson MG. Genetics of Nephrotic Syndrome Presenting in Childhood: Core Curriculum 2019. Am J Kidney Dis. 2019 10; 74(4):549-557. PMID: 30955946.
    Citations: 2     Fields:    Translation:Humans
  21. Verbitsky M, Westland R, Perez A, Kiryluk K, Liu Q, Krithivasan P, Mitrotti A, Fasel DA, Batourina E, Sampson MG, Bodria M, Werth M, Kao C, Martino J, Capone VP, Vivante A, Shril S, Kil BH, Marasa M, Zhang JY, Na YJ, Lim TY, Ahram D, Weng PL, Heinzen EL, Carrea A, Piaggio G, Gesualdo L, Manca V, Masnata G, Gigante M, Cusi D, Izzi C, Scolari F, van Wijk JAE, Saraga M, Santoro D, Conti G, Zamboli P, White H, Drozdz D, Zachwieja K, Miklaszewska M, Tkaczyk M, Tomczyk D, Krakowska A, Sikora P, Jarmolinski T, Borszewska-Kornacka MK, Pawluch R, Szczepanska M, Adamczyk P, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Dobson MG, Darlow JM, Puri P, Barton DE, Furth SL, Warady BA, Gucev Z, Lozanovski VJ, Tasic V, Pisani I, Allegri L, Rodas LM, Campistol JM, Jeanpierre C, Alam S, Casale P, Wong CS, Lin F, Miranda DM, Oliveira EA, Simoes-E-Silva AC, Barasch JM, Levy B, Wu N, Hildebrandt F, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Zhang F, Hakonarson H, Papaioannou VE, Mendelsohn CL, Gharavi AG, Sanna-Cherchi S. Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract. Nat Genet. 2019 04; 51(4):764. PMID: 30816350.
    Citations: 2     Fields:    
  22. Sampson MG. Glomerular and tubulointerstitial eQTLs for genomic discovery. Nat Rev Nephrol. 2019 01; 15(1):3-4. PMID: 30514972.
    Citations:    Fields:    Translation:Humans
  23. Verbitsky M, Westland R, Perez A, Kiryluk K, Liu Q, Krithivasan P, Mitrotti A, Fasel DA, Batourina E, Sampson MG, Bodria M, Werth M, Kao C, Martino J, Capone VP, Vivante A, Shril S, Kil BH, Marasà M, Zhang JY, Na YJ, Lim TY, Ahram D, Weng PL, Heinzen EL, Carrea A, Piaggio G, Gesualdo L, Manca V, Masnata G, Gigante M, Cusi D, Izzi C, Scolari F, van Wijk JAE, Saraga M, Santoro D, Conti G, Zamboli P, White H, Drozdz D, Zachwieja K, Miklaszewska M, Tkaczyk M, Tomczyk D, Krakowska A, Sikora P, Jarmolinski T, Borszewska-Kornacka MK, Pawluch R, Szczepanska M, Adamczyk P, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Dobson MG, Darlow JM, Puri P, Barton DE, Furth SL, Warady BA, Gucev Z, Lozanovski VJ, Tasic V, Pisani I, Allegri L, Rodas LM, Campistol JM, Jeanpierre C, Alam S, Casale P, Wong CS, Lin F, Miranda DM, Oliveira EA, Simões-E-Silva AC, Barasch JM, Levy B, Wu N, Hildebrandt F, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Zhang F, Hakonarson H, Papaioannou VE, Mendelsohn CL, Gharavi AG, Sanna-Cherchi S. The copy number variation landscape of congenital anomalies of the kidney and urinary tract. Nat Genet. 2019 01; 51(1):117-127. PMID: 30578417.
    Citations: 38     Fields:    Translation:Humans
  24. Gillies CE, Putler R, Menon R, Otto E, Yasutake K, Nair V, Hoover P, Lieb D, Li S, Eddy S, Fermin D, McNulty MT, Hacohen N, Kiryluk K, Kretzler M, Wen X, Sampson MG. An eQTL Landscape of Kidney Tissue in Human Nephrotic Syndrome. Am J Hum Genet. 2018 08 02; 103(2):232-244. PMID: 30057032.
    Citations: 46     Fields:    Translation:HumansCells
  25. Debiec H, Dossier C, Letouzé E, Gillies CE, Vivarelli M, Putler RK, Ars E, Jacqz-Aigrain E, Elie V, Colucci M, Debette S, Amouyel P, Elalaoui SC, Sefiani A, Dubois V, Simon T, Kretzler M, Ballarin J, Emma F, Sampson MG, Deschênes G, Ronco P. Transethnic, Genome-Wide Analysis Reveals Immune-Related Risk Alleles and Phenotypic Correlates in Pediatric Steroid-Sensitive Nephrotic Syndrome. J Am Soc Nephrol. 2018 07; 29(7):2000-2013. PMID: 29903748.
    Citations: 15     Fields:    Translation:Humans
  26. Zhang JY, Wang M, Tian L, Genovese G, Yan P, Wilson JG, Thadhani R, Mottl AK, Appel GB, Bick AG, Sampson MG, Alper SL, Friedman DJ, Pollak MR. UBD modifies APOL1-induced kidney disease risk. Proc Natl Acad Sci U S A. 2018 03 27; 115(13):3446-3451. PMID: 29531077.
    Citations: 14     Fields:    Translation:Humans
  27. Skorecki KL, Lee JH, Langefeld CD, Rosset S, Tzur S, Wasser WG, Shemer R, Hawkins GA, Divers J, Parekh RS, Li M, Sampson MG, Kretzler M, Pollak MR, Shah S, Blackler D, Nichols B, Wilmot M, Alper SL, Freedman BI, Friedman DJ. A null variant in the apolipoprotein L3 gene is associated with non-diabetic nephropathy. Nephrol Dial Transplant. 2018 02 01; 33(2):323-330. PMID: 28339911.
    Citations: 11     Fields:    Translation:Humans
  28. Sampson MG. The Democratization of Genomic Inquiry Empowers Our Understanding of Nephrotic Syndrome. Transplantation. 2017 12; 101(12):2814-2815. PMID: 28737604.
    Citations: 1     Fields:    Translation:Humans
  29. Robertson CC, Gillies CE, Putler RKB, Ng D, Reidy KJ, Crawford B, Sampson MG. An investigation of APOL1 risk genotypes and preterm birth in African American population cohorts. Nephrol Dial Transplant. 2017 Dec 01; 32(12):2051-2058. PMID: 27638911.
    Citations: 9     Fields:    Translation:Humans
  30. Sanna-Cherchi S, Khan K, Westland R, Krithivasan P, Fievet L, Rasouly HM, Ionita-Laza I, Capone VP, Fasel DA, Kiryluk K, Kamalakaran S, Bodria M, Otto EA, Sampson MG, Gillies CE, Vega-Warner V, Vukojevic K, Pediaditakis I, Makar GS, Mitrotti A, Verbitsky M, Martino J, Liu Q, Na YJ, Goj V, Ardissino G, Gigante M, Gesualdo L, Janezcko M, Zaniew M, Mendelsohn CL, Shril S, Hildebrandt F, van Wijk JAE, Arapovic A, Saraga M, Allegri L, Izzi C, Scolari F, Tasic V, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Mane S, Goldstein DB, Lifton RP, Katsanis N, Davis EE, Gharavi AG. Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. Am J Hum Genet. 2017 Nov 02; 101(5):789-802. PMID: 29100090.
    Citations: 19     Fields:    Translation:HumansAnimalsCells
  31. Crawford BD, Gillies CE, Robertson CC, Kretzler M, Otto EA, Vega-Warner V, Sampson MG. Erratum to: Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability. Pediatr Nephrol. 2017 07; 32(7):1285. PMID: 28349212.
    Citations:    Fields:    
  32. Ng DK, Robertson CC, Woroniecki RP, Limou S, Gillies CE, Reidy KJ, Winkler CA, Hingorani S, Gibson KL, Hjorten R, Sethna CB, Kopp JB, Moxey-Mims M, Furth SL, Warady BA, Kretzler M, Sedor JR, Kaskel FJ, Sampson MG. APOL1-associated glomerular disease among African-American children: a collaboration of the Chronic Kidney Disease in Children (CKiD) and Nephrotic Syndrome Study Network (NEPTUNE) cohorts. Nephrol Dial Transplant. 2017 Jun 01; 32(6):983-990. PMID: 27190333.
    Citations: 28     Fields:    Translation:Humans
  33. Azukaitis K, Simkova E, Majid MA, Galiano M, Benz K, Amann K, Bockmeyer C, Gajjar R, Meyers KE, Cheong HI, Lange-Sperandio B, Jungraithmayr T, Frémeaux-Bacchi V, Bergmann C, Bereczki C, Miklaszewska M, Csuka D, Prohászka Z, Killen P, Gipson P, Sampson MG, Lemaire M, Schaefer F. The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase e. J Am Soc Nephrol. 2017 10; 28(10):3066-3075. PMID: 28526779.
    Citations: 11     Fields:    Translation:Humans
  34. Wang J, Vogt B, Sethi SK, Sampson MG, Vega-Warner V, Otto EA, Raina R. A Case of Hyperphosphatemia and Elevated Fibroblast Growth Factor 23: A Brief Review of Hyperphosphatemia and Fibroblast Growth Factor 23 Pathway. Kidney Int Rep. 2017 Nov; 2(6):1238-1242. PMID: 29270533.
    Citations:    
  35. Lopez-Rivera E, Liu YP, Verbitsky M, Anderson BR, Capone VP, Otto EA, Yan Z, Mitrotti A, Martino J, Steers NJ, Fasel DA, Vukojevic K, Deng R, Racedo SE, Liu Q, Werth M, Westland R, Vivante A, Makar GS, Bodria M, Sampson MG, Gillies CE, Vega-Warner V, Maiorana M, Petrey DS, Honig B, Lozanovski VJ, Salomon R, Heidet L, Carpentier W, Gaillard D, Carrea A, Gesualdo L, Cusi D, Izzi C, Scolari F, van Wijk JA, Arapovic A, Saraga-Babic M, Saraga M, Kunac N, Samii A, McDonald-McGinn DM, Crowley TB, Zackai EH, Drozdz D, Miklaszewska M, Tkaczyk M, Sikora P, Szczepanska M, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Darlow JM, Puri P, Barton D, Casolari E, Furth SL, Warady BA, Gucev Z, Hakonarson H, Flogelova H, Tasic V, Latos-Bielenska A, Materna-Kiryluk A, Allegri L, Wong CS, Drummond IA, D'Agati V, Imamoto A, Barasch JM, Hildebrandt F, Kiryluk K, Lifton RP, Morrow BE, Jeanpierre C, Papaioannou VE, Ghiggeri GM, Gharavi AG, Katsanis N, Sanna-Cherchi S. Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. N Engl J Med. 2017 02 23; 376(8):742-754. PMID: 28121514.
    Citations: 53     Fields:    Translation:HumansAnimalsCells
  36. Woroniecki RP, Ng DK, Limou S, Winkler CA, Reidy KJ, Mitsnefes M, Sampson MG, Wong CS, Warady BA, Furth SL, Kopp JB, Kaskel FJ. Renal and Cardiovascular Morbidities Associated with APOL1 Status among African-American and Non-African-American Children with Focal Segmental Glomerulosclerosis. Front Pediatr. 2016; 4:122. PMID: 27900314.
    Citations: 15     
  37. Crawford BD, Gillies CE, Robertson CC, Kretzler M, Otto EA, Vega-Warner V, Sampson MG. Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability. Pediatr Nephrol. 2017 03; 32(3):467-476. PMID: 27766458.
    Citations: 4     Fields:    Translation:Humans
  38. Sethi SK, Wadhwani N, Jha P, Duggal R, Vega-Warner V, Raina R, Bansal SB, Kher V, Sampson MG, Otto EA. A Familial Infantile Renal Failure. Kidney Int Rep. 2017 Mar; 2(2):130-133. PMID: 29142950.
    Citations:    
  39. McCarthy S, Das S, Kretzschmar W, Delaneau O, Wood AR, Teumer A, Kang HM, Fuchsberger C, Danecek P, Sharp K, Luo Y, Sidore C, Kwong A, Timpson N, Koskinen S, Vrieze S, Scott LJ, Zhang H, Mahajan A, Veldink J, Peters U, Pato C, van Duijn CM, Gillies CE, Gandin I, Mezzavilla M, Gilly A, Cocca M, Traglia M, Angius A, Barrett JC, Boomsma D, Branham K, Breen G, Brummett CM, Busonero F, Campbell H, Chan A, Chen S, Chew E, Collins FS, Corbin LJ, Smith GD, Dedoussis G, Dorr M, Farmaki AE, Ferrucci L, Forer L, Fraser RM, Gabriel S, Levy S, Groop L, Harrison T, Hattersley A, Holmen OL, Hveem K, Kretzler M, Lee JC, McGue M, Meitinger T, Melzer D, Min JL, Mohlke KL, Vincent JB, Nauck M, Nickerson D, Palotie A, Pato M, Pirastu N, McInnis M, Richards JB, Sala C, Salomaa V, Schlessinger D, Schoenherr S, Slagboom PE, Small K, Spector T, Stambolian D, Tuke M, Tuomilehto J, Van den Berg LH, Van Rheenen W, Volker U, Wijmenga C, Toniolo D, Zeggini E, Gasparini P, Sampson MG, Wilson JF, Frayling T, de Bakker PI, Swertz MA, McCarroll S, Kooperberg C, Dekker A, Altshuler D, Willer C, Iacono W, Ripatti S, Soranzo N, Walter K, Swaroop A, Cucca F, Anderson CA, Myers RM, Boehnke M, McCarthy MI, Durbin R. A reference panel of 64,976 haplotypes for genotype imputation. Nat Genet. 2016 10; 48(10):1279-83. PMID: 27548312.
    Citations: 749     Fields:    Translation:Humans
  40. Gillies CE, Otto EA, Vega-Warner V, Robertson CC, Sanna-Cherchi S, Gharavi A, Crawford B, Bhimma R, Winkler C, Kang HM, Sampson MG. tarSVM: Improving the accuracy of variant calls derived from microfluidic PCR-based targeted next generation sequencing using a support vector machine. BMC Bioinformatics. 2016 Jun 10; 17(1):233. PMID: 27287006.
    Citations: 1     Fields:    Translation:Humans
  41. Yu H, Artomov M, Brähler S, Stander MC, Shamsan G, Sampson MG, White JM, Kretzler M, Miner JH, Jain S, Winkler CA, Mitra RD, Kopp JB, Daly MJ, Shaw AS. A role for genetic susceptibility in sporadic focal segmental glomerulosclerosis. J Clin Invest. 2016 Mar 01; 126(3):1067-78. PMID: 26901816.
    Citations: 21     Fields:    Translation:HumansAnimalsCells
  42. Gipson DS, Troost JP, Lafayette RA, Hladunewich MA, Trachtman H, Gadegbeku CA, Sedor JR, Holzman LB, Moxey-Mims MM, Perumal K, Kaskel FJ, Nelson PJ, Tuttle KR, Bagnasco SM, Hogan MC, Dell KM, Appel GB, Lieske JC, Ilori TO, Sethna CB, Fervenza FC, Hogan SL, Nachman PH, Rosenberg AZ, Greenbaum LA, Meyers KE, Hewitt SM, Choi MJ, Kopp JB, Zhdanova O, Hodgin JB, Johnstone DB, Adler SG, Avila-Casado C, Neu AM, Hingorani SR, Lemley KV, Nast CC, Brady TM, Barisoni-Thomas L, Fornoni A, Jennette JC, Cattran DC, Palmer MB, Gibson KL, Reich HN, Mokrzycki MH, Sambandam KK, Zilleruelo GE, Licht C, Sampson MG, Song P, Mariani LH, Kretzler M. Complete Remission in the Nephrotic Syndrome Study Network. Clin J Am Soc Nephrol. 2016 Jan 07; 11(1):81-9. PMID: 26656320.
    Citations: 27     Fields:    Translation:Humans
  43. Ju W, Nair V, Smith S, Zhu L, Shedden K, Song PXK, Mariani LH, Eichinger FH, Berthier CC, Randolph A, Lai JY, Zhou Y, Hawkins JJ, Bitzer M, Sampson MG, Thier M, Solier C, Duran-Pacheco GC, Duchateau-Nguyen G, Essioux L, Schott B, Formentini I, Magnone MC, Bobadilla M, Cohen CD, Bagnasco SM, Barisoni L, Lv J, Zhang H, Wang HY, Brosius FC, Gadegbeku CA, Kretzler M. Tissue transcriptome-driven identification of epidermal growth factor as a chronic kidney disease biomarker. Sci Transl Med. 2015 Dec 02; 7(316):316ra193. PMID: 26631632.
    Citations: 114     Fields:    Translation:HumansCells
  44. Sampson MG, Gillies CE, Robertson CC, Crawford B, Vega-Warner V, Otto EA, Kretzler M, Kang HM. Using Population Genetics to Interrogate the Monogenic Nephrotic Syndrome Diagnosis in a Case Cohort. J Am Soc Nephrol. 2016 07; 27(7):1970-83. PMID: 26534921.
    Citations: 20     Fields:    Translation:Humans
  45. Sampson MG. Actualizing the Benefits of Genomic Discovery in Pediatric Nephrology. J Pediatr Genet. 2016 Mar; 5(1):69-75. PMID: 27617144.
    Citations: 1     
  46. Gillies CE, Robertson CC, Sampson MG, Kang HM. GeneVetter: a web tool for quantitative monogenic assessment of rare diseases. Bioinformatics. 2015 Nov 15; 31(22):3682-4. PMID: 26209433.
    Citations: 3     Fields:    Translation:Humans
  47. Sampson MG, Robertson CC, Martini S, Mariani LH, Lemley KV, Gillies CE, Otto EA, Kopp JB, Randolph A, Vega-Warner V, Eichinger F, Nair V, Gipson DS, Cattran DC, Johnstone DB, O'Toole JF, Bagnasco SM, Song PX, Barisoni L, Troost JP, Kretzler M, Sedor JR. Integrative Genomics Identifies Novel Associations with APOL1 Risk Genotypes in Black NEPTUNE Subjects. J Am Soc Nephrol. 2016 Mar; 27(3):814-23. PMID: 26150607.
    Citations: 53     Fields:    Translation:HumansCells
  48. Ma SL, Vega-Warner V, Gillies C, Sampson MG, Kher V, Sethi SK, Otto EA. Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets. PLoS One. 2015; 10(6):e0130729. PMID: 26107949.
    Citations: 8     Fields:    Translation:HumansCells
  49. Sampson MG, Pollak MR. Opportunities and Challenges of Genotyping Patients With Nephrotic Syndrome in the Genomic Era. Semin Nephrol. 2015 May; 35(3):212-21. PMID: 26215859.
    Citations: 9     Fields:    Translation:Humans
  50. Sampson MG, Hodgin JB, Kretzler M. Defining nephrotic syndrome from an integrative genomics perspective. Pediatr Nephrol. 2015 Jan; 30(1):51-63; quiz 59. PMID: 24890338.
    Citations: 11     Fields:    Translation:Humans
  51. Sampson MG, Gillies CE, Ju W, Kretzler M, Kang HM. Gene-level integrated metric of negative selection (GIMS) prioritizes candidate genes for nephrotic syndrome. PLoS One. 2013; 8(11):e81062. PMID: 24260533.
    Citations: 4     Fields:    Translation:HumansCells
  52. Gadegbeku CA, Gipson DS, Holzman LB, Ojo AO, Song PX, Barisoni L, Sampson MG, Kopp JB, Lemley KV, Nelson PJ, Lienczewski CC, Adler SG, Appel GB, Cattran DC, Choi MJ, Contreras G, Dell KM, Fervenza FC, Gibson KL, Greenbaum LA, Hernandez JD, Hewitt SM, Hingorani SR, Hladunewich M, Hogan MC, Hogan SL, Kaskel FJ, Lieske JC, Meyers KE, Nachman PH, Nast CC, Neu AM, Reich HN, Sedor JR, Sethna CB, Trachtman H, Tuttle KR, Zhdanova O, Zilleruelo GE, Kretzler M. Design of the Nephrotic Syndrome Study Network (NEPTUNE) to evaluate primary glomerular nephropathy by a multidisciplinary approach. Kidney Int. 2013 Apr; 83(4):749-56. PMID: 23325076.
    Citations: 112     Fields:    Translation:Humans
  53. Sampson MG, Jüppner H. Genes, Exomes, Genomes, Copy Number: What is Their Future in Pediatric Renal Disease. Curr Pediatr Rep. 2013 Mar; 1(1):52-59. PMID: 27642543.
    Citations: 1     
  54. Sanna-Cherchi S, Kiryluk K, Burgess KE, Bodria M, Sampson MG, Hadley D, Nees SN, Verbitsky M, Perry BJ, Sterken R, Lozanovski VJ, Materna-Kiryluk A, Barlassina C, Kini A, Corbani V, Carrea A, Somenzi D, Murtas C, Ristoska-Bojkovska N, Izzi C, Bianco B, Zaniew M, Flogelova H, Weng PL, Kacak N, Giberti S, Gigante M, Arapovic A, Drnasin K, Caridi G, Curioni S, Allegri F, Ammenti A, Ferretti S, Goj V, Bernardo L, Jobanputra V, Chung WK, Lifton RP, Sanders S, State M, Clark LN, Saraga M, Padmanabhan S, Dominiczak AF, Foroud T, Gesualdo L, Gucev Z, Allegri L, Latos-Bielenska A, Cusi D, Scolari F, Tasic V, Hakonarson H, Ghiggeri GM, Gharavi AG. Copy-number disorders are a common cause of congenital kidney malformations. Am J Hum Genet. 2012 Dec 07; 91(6):987-97. PMID: 23159250.
    Citations: 93     Fields:    Translation:Humans
  55. Sampson MG, Coughlin CR, Kaplan P, Conlin LK, Meyers KE, Zackai EH, Spinner NB, Copelovitch L. Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease. . 2010 Oct; 152A(10):2618-22. PMID: 20799338.
    Citations: 22     Translation:HumansCells
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.