Matthew G Sampson

Matthew G Sampson

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Matthew G Sampson

Matthew G Sampson

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Genetics of Nephrotic Syndrome Presenting in Childhood: Core Curriculum 2019.

Am J Kidney Dis 2019 Oct 5;74(4):549-557. Epub 2019 Apr 5.

Department of Pediatrics-Nephrology, 4 Center for Computational Medicine and Bioinformatics, University of Michigan School of Medicine, Ann Arbor, MI. Electronic address:

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http://dx.doi.org/10.1053/j.ajkd.2019.01.033DOI Listing
October 2019

Using and producing publicly available genomic data to accelerate discovery in nephrology.

Nat Rev Nephrol 2019 Sep;15(9):523-524

Center for Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.

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http://dx.doi.org/10.1038/s41581-019-0166-zDOI Listing
September 2019

Author Correction: Using and producing publicly available genomic data to accelerate discovery in nephrology.

Nat Rev Nephrol 2019 Sep;15(9):590

Center for Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.

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http://dx.doi.org/10.1038/s41581-019-0186-8DOI Listing
September 2019

Unique association of multiple endocrine neoplasia 2A and congenital anomalies of the kidney and urinary tract in a child with a mutation.

BMJ Case Rep 2019 Aug 30;12(8). Epub 2019 Aug 30.

Pediatric-Nephrology, University of Michigan, Ann Arbor, Michigan, USA.

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http://dx.doi.org/10.1136/bcr-2019-229904DOI Listing
August 2019

Disruption of the exocyst induces podocyte loss and dysfunction.

J Biol Chem 2019 Jun 9;294(26):10104-10119. Epub 2019 May 9.

From the Department of Medicine, Medical University of South Carolina, Charleston, South Carolina 29425.

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http://dx.doi.org/10.1074/jbc.RA119.008362DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6664173PMC
June 2019

Genomic Mismatch at Locus and Kidney Allograft Rejection.

N Engl J Med 2019 05;380(20):1918-1928

From the Department of Medicine, Division of Nephrology (N.J.S., Y.L., J.A.D., C.F., L.L., K.X., Y.-J.N., Y.D.N., J.Y.Z., R.S., O.B., D.B., N.O., F.O., S.G., K.M., J.W., S.M., J.R., D.J.C., J.B., A.G.G., K.K.), the Department of Surgery (L.E.R.), and the Department of Pathology and Cell Biology (E.-R.M.V., G.V., V.D.), Vagelos College of Physicians and Surgeons, and the Departments of Epidemiology (S.M.) and Biostatistics (I.I.-L.), Mailman School of Public Health, Columbia University, New York; Immunogenetics and Biology of Transplantation, Città della Salute e della Scienza, University Hospital of Turin, and Medical Genetics, Department of Medical Sciences, University of Turin, Turin (Z.D., S.D., A.A.), and the Division of Nephrology, Azienda Ospedaliera Spedali Civili of Brescia, Montichiari Hospital, University of Brescia, Brescia (F.S.) - all in Italy; the Department of Pathology, M.D. Anderson Cancer Center, Houston (F.Z.J.); the Division of Genetics and Genomics, Boston Children's Hospital, and the Department of Medical Oncology, Dana-Farber Cancer Institute, Boston (M.R.); the Department of Pediatrics, Division of Pediatric Nephrology, University of Michigan School of Medicine, Ann Arbor (C.E.G., M.G.S.); the Department of Medicine, Renal, Electrolyte, and Hypertension Division, University of Pennsylvania, Philadelphia (Y.-A.K., K.S.); the Division of Nephrology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey (Y.C.); the Nephrology Research Group, Queen's University of Belfast, Belfast, United Kingdom (A.E.C., A.P.M., A.J.M.); and the Department of Internal Medicine, Division of Nephrology (S.J.L.B., M.H.B.), and the Department of Epidemiology, Unit of Genetic Epidemiology and Bioinformatics (H.S.), University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.

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http://dx.doi.org/10.1056/NEJMoa1803731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6589355PMC
May 2019

Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract.

Nat Genet 2019 04;51(4):764

Division of Nephrology, Department of Medicine, Columbia University, New York, NY, USA.

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http://dx.doi.org/10.1038/s41588-019-0376-0DOI Listing
April 2019

Glomerular and tubulointerstitial eQTLs for genomic discovery.

Nat Rev Nephrol 2019 01;15(1):3-4

Department of Pediatrics-Nephrology, University of Michigan Medical School, Ann Arbor, MI, USA.

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http://dx.doi.org/10.1038/s41581-018-0089-0DOI Listing
January 2019

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

Nat Genet 2019 01 21;51(1):117-127. Epub 2018 Dec 21.

Division of Nephrology, Department of Medicine, Columbia University, New York, NY, USA.

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http://www.nature.com/articles/s41588-018-0281-y
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http://dx.doi.org/10.1038/s41588-018-0281-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6668343PMC
January 2019

modifies -induced kidney disease risk.

Proc Natl Acad Sci U S A 2018 03 12;115(13):3446-3451. Epub 2018 Mar 12.

Division of Nephrology, Department of Medicine, Beth Israel Deaconess Medical Center, Boston, MA 02215;

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http://dx.doi.org/10.1073/pnas.1716113115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5879665PMC
March 2018

Meeting report of the 2017 KidGen Renal Genetics Symposium.

Hum Genomics 2018 01 30;12(1). Epub 2018 Jan 30.

KidGen Renal Genetics Flagship, Australian Genomic Health Alliance, Melbourne, Australia.

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http://dx.doi.org/10.1186/s40246-018-0137-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5791341PMC
January 2018

An investigation of APOL1 risk genotypes and preterm birth in African American population cohorts.

Nephrol Dial Transplant 2017 Dec;32(12):2051-2058

Pediatric Nephrology, University ofMichigan School of Medicine, 3560B MSRB II, 1150 West Medical Center Drive, Ann Arbor, MI 48109, USA.

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http://dx.doi.org/10.1093/ndt/gfw317DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6251680PMC
December 2017

The Democratization of Genomic Inquiry Empowers Our Understanding of Nephrotic Syndrome.

Transplantation 2017 12;101(12):2814-2815

Department of Pediatrics & Communicable Diseases-Nephrology, University of Michigan School of Medicine, Ann Arbor, MI.

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http://dx.doi.org/10.1097/TP.0000000000001897DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5791741PMC
December 2017

A Familial Infantile Renal Failure.

Kidney Int Rep 2017 Mar 1;2(2):130-133. Epub 2016 Sep 1.

Department of Internal Medicine, Division of Nephrology, University of Michigan, Ann Arbor, MI, USA.

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http://dx.doi.org/10.1016/j.ekir.2016.08.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5678632PMC
March 2017

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.

N Engl J Med 2017 02 25;376(8):742-754. Epub 2017 Jan 25.

From the Division of Nephrology (E.L.-R., M.V., V.P.C., Z.Y., A.M., J.M., N.J.S., D.A.F., R.D., M.W., G.S.M., M.B., J.M.B., K.K., A.G.G., S.S.-C.) and the Division of Nephrology in Medicine and Zuckerman Mind Brain Behavior Institute (B.H.), the Departments of Systems Biology (D.S.P., B.H.), Biochemistry and Molecular Biophysics (B.H.), and Pathology (V.D.), and the Howard Hughes Medical Institute (D.S.P., B.H.), Columbia University, and the Department of Genetics and Development, Columbia University Medical Center (Q.L., V.E.P.), New York, and the Department of Genetics, Albert Einstein College of Medicine, Bronx (S.E.R., B.E.M.) - all in New York; the Center for Human Disease Modeling, Duke University, Durham, NC (Y.P.L., B.R.A., N. Katsanis); the Departments of Internal Medicine-Nephrology (E.A.O.) and Pediatrics-Nephrology (M.G.S., C.E.G., V.V.-W.), University of Michigan School of Medicine, Ann Arbor; the Department of Anatomy, Histology, and Embryology, School of Medicine, University of Split (K.V., M.S.-B.), and the Departments of Pediatrics (A.A., M. Saraga) and Pathology (N. Kunac), University Hospital of Split, Split, Croatia; the Department of Pediatric Nephrology, VU University Medical Center, Amsterdam (R.W., J.A.E.W.); the Department of Medicine, Boston Children's Hospital (A.V., F.H.), and Harvard Medical School, Boston (A.V., F.H., I.A.D.), and the Nephrology Division, Massachusetts General Hospital, Charlestown (I.A.D.) - all in Massachusetts; the Division of Nephrology, Dialysis, Transplantation, and Laboratory on Pathophysiology of Uremia, Istituto G. Gaslini, Genoa (M.B., A.C., G.M.G.), the Department of Clinical and Experimental Medicine, University of Parma (M.B., M. Maiorana, L.A.), and the Pediatric Surgery Unit, University Hospital of Parma (E.C.), Parma, the Section of Nephrology, Department of Emergency and Organ Transplantation, University of Bari, Bari (L.G.), the Department of Medical Sciences, University of Milano, and Institute of Biomedical Technologies, Italian National Institute of Research ITB-CNR, Milan (D.C.), and Dipartimento Ostetrico-Ginecologico e Seconda Divisione di Nefrologia ASST Spedali Civili e Presidio di Montichiari (C.I.) and Cattedra di Nefrologia, Università di Brescia, Seconda Divisione di Nefrologia Azienda Ospedaliera Spedali Civili di Brescia Presidio di Montichiari (F.S.), Brescia - all in Italy; the Department of General and Transplant Surgery, University Hospital of Heidelberg, Germany (V.J.L.); the Department of Pediatric Nephrology, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (R.S., L.H., C.J.), INSERM UMR 1163, Laboratory of Hereditary Kidney Diseases (R.S.), Necker-Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cite University, Imagine Institute (R.S.), Sorbonne Universités, UPMC 06, Plateforme Post-génomique de la Pitié-Salpêtrière, UMS 2 Omique, Inserm US029 (W.C.), Paris, and the Department of Genetics, Centre Hospitalier Universitaire de Reims, Unité de Formation et de Recherche de Médecine, Reims (D.G.) - both in France; the Department of Neurology, University of Washington School of Medicine, and Northwest VA Parkinson's Disease Research, Education and Clinical Centers, Seattle (A. Samii); the Division of Human Genetics, Department of Pediatrics, 22q and You Center, Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania (D.M.M.-M., T.B.C., E.H.Z., S.L.F.), Division of Nephrology, Children's Hospital of Philadelphia (S.L.F.), and the Department of Genetics, University of Pennsylvania (H.H.), Philadelphia; the Dialysis Unit, Jagiellonian University Medical College (D.D.), and the Department of Pediatric Nephrology, Jagiellonian University Medical College (M. Miklaszewska), Krakow, the Department of Pediatrics, Immunology and Nephrology, Polish Mother's Memorial Hospital Research Institute, Lodz (M.T.), the Department of Pediatric Nephrology Medical University of Lublin, Lublin (P.S.), the Department of Pediatrics, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia, Katowice (M. Szczepanska), the Department of Pediatrics and Nephrology, Medical University of Warsaw, Warsaw (M.M.-W., G.K., A. Szmigielska), and Krysiewicza Children's Hospital (M.Z.) and the Department of Medical Genetics, Poznan University of Medical Sciences, and Center for Medical Genetics GENESIS (A.L.-B., A.M.-K.), Poznań - all in Poland; the Department of Clinical Genetics (J.M.D., D.B.), National Children's Research Centre (J.M.D., P.P.), and University College Dublin School of Medicine (D.B.), Our Lady's Children's Hospital Crumlin, and the National Children's Hospital Tallaght (P.P.), Dublin, Ireland; the Division of Pediatric Nephrology, Children's Mercy Hospital, Kansas City, MO (B.A.W.); University Children's Hospital, Medical Faculty of Skopje, Skopje, Macedonia (Z.G., V.T.); Faculty of Medicine, Palacky University, Olomouc, Czech Republic (H.F.); the Division of Pediatric Nephrology, University of New Mexico Children's Hospital, Albuquerque (C.S.W.); Ben May Department for Cancer Research, University of Chicago, Chicago (A.I.); and the Department of Genetics, Howard Hughes Medical Institute, and Yale Center for Mendelian Genomics, Yale University, New Haven, CT (R.P.L.).

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http://dx.doi.org/10.1056/NEJMoa1609009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5559731PMC
February 2017

A reference panel of 64,976 haplotypes for genotype imputation.

Authors:
Shane McCarthy Sayantan Das Warren Kretzschmar Olivier Delaneau Andrew R Wood Alexander Teumer Hyun Min Kang Christian Fuchsberger Petr Danecek Kevin Sharp Yang Luo Carlo Sidore Alan Kwong Nicholas Timpson Seppo Koskinen Scott Vrieze Laura J Scott He Zhang Anubha Mahajan Jan Veldink Ulrike Peters Carlos Pato Cornelia M van Duijn Christopher E Gillies Ilaria Gandin Massimo Mezzavilla Arthur Gilly Massimiliano Cocca Michela Traglia Andrea Angius Jeffrey C Barrett Dorrett Boomsma Kari Branham Gerome Breen Chad M Brummett Fabio Busonero Harry Campbell Andrew Chan Sai Chen Emily Chew Francis S Collins Laura J Corbin George Davey Smith George Dedoussis Marcus Dorr Aliki-Eleni Farmaki Luigi Ferrucci Lukas Forer Ross M Fraser Stacey Gabriel Shawn Levy Leif Groop Tabitha Harrison Andrew Hattersley Oddgeir L Holmen Kristian Hveem Matthias Kretzler James C Lee Matt McGue Thomas Meitinger David Melzer Josine L Min Karen L Mohlke John B Vincent Matthias Nauck Deborah Nickerson Aarno Palotie Michele Pato Nicola Pirastu Melvin McInnis J Brent Richards Cinzia Sala Veikko Salomaa David Schlessinger Sebastian Schoenherr P Eline Slagboom Kerrin Small Timothy Spector Dwight Stambolian Marcus Tuke Jaakko Tuomilehto Leonard H Van den Berg Wouter Van Rheenen Uwe Volker Cisca Wijmenga Daniela Toniolo Eleftheria Zeggini Paolo Gasparini Matthew G Sampson James F Wilson Timothy Frayling Paul I W de Bakker Morris A Swertz Steven McCarroll Charles Kooperberg Annelot Dekker David Altshuler Cristen Willer William Iacono Samuli Ripatti Nicole Soranzo Klaudia Walter Anand Swaroop Francesco Cucca Carl A Anderson Richard M Myers Michael Boehnke Mark I McCarthy Richard Durbin

Nat Genet 2016 10 22;48(10):1279-83. Epub 2016 Aug 22.

Human Genetics, Wellcome Trust Sanger Institute, Hinxton, UK.

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http://dx.doi.org/10.1038/ng.3643DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5388176PMC
October 2016

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

J Am Soc Nephrol 2016 07 3;27(7):1970-83. Epub 2015 Nov 3.

Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, Michigan.

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http://dx.doi.org/10.1681/ASN.2015050504DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4926977PMC
July 2016

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

PLoS One 2015 24;10(6):e0130729. Epub 2015 Jun 24.

Division of Nephrology, Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0130729PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4479593PMC
April 2016

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

J Am Soc Nephrol 2016 Mar 6;27(3):814-23. Epub 2015 Jul 6.

Division of Nephrology, Department of Internal Medicine and Department of Physiology and Biophysics, Case Western Reserve University and Rammelkamp Center for Education and Research, MetroHealth System, Cleveland, Ohio;

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http://dx.doi.org/10.1681/ASN.2014111131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4769193PMC
March 2016

Actualizing the Benefits of Genomic Discovery in Pediatric Nephrology.

J Pediatr Genet 2016 Mar 13;5(1):69-75. Epub 2015 Aug 13.

Division of Pediatric Nephrology, Department of Pediatrics and Communicable Diseases, University of Michigan School of Medicine, Ann Arbor, Michigan, United States.

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http://dx.doi.org/10.1055/s-0035-1557113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4918707PMC
March 2016

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

Bioinformatics 2015 Nov 23;31(22):3682-4. Epub 2015 Jul 23.

Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, MI, USA.

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http://dx.doi.org/10.1093/bioinformatics/btv432DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4643620PMC
November 2015

Opportunities and Challenges of Genotyping Patients With Nephrotic Syndrome in the Genomic Era.

Semin Nephrol 2015 May;35(3):212-21

Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA.

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http://dx.doi.org/10.1016/j.semnephrol.2015.04.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4745990PMC
May 2015

Defining nephrotic syndrome from an integrative genomics perspective.

Pediatr Nephrol 2015 Jan 3;30(1):51-63; quiz 59. Epub 2014 Jun 3.

Division of Nephrology, Department of Pediatrics and Communicable Diseases, University of Michigan Medical School, 8220D MSRB III, West Medical Center Drive, Ann Arbor, MI, 48109, USA,

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http://dx.doi.org/10.1007/s00467-014-2857-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4241380PMC
January 2015

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

Curr Pediatr Rep 2013 Mar 22;1(1):52-59. Epub 2012 Dec 22.

Pediatric Nephrology and Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, 50 Blossom Street, Thier 10, Boston, MA 02114, USA.

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http://dx.doi.org/10.1007/s40124-012-0001-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5022771PMC
March 2013

Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease.

Am J Med Genet A 2010 Oct;152A(10):2618-22

Division of Pediatric Nephrology, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1002/ajmg.a.33628DOI Listing
October 2010