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Items: 18

1.

Diagnostic Utility of Exome Sequencing for Kidney Disease. Reply.

Groopman E, Goldstein D, Gharavi A.

N Engl J Med. 2019 May 23;380(21):2080-2081. doi: 10.1056/NEJMc1903250. No abstract available.

PMID:
31116939
2.

Exome-Based Rare-Variant Analyses in CKD.

Cameron-Christie S, Wolock CJ, Groopman E, Petrovski S, Kamalakaran S, Povysil G, Vitsios D, Zhang M, Fleckner J, March RE, Gelfman S, Marasa M, Li Y, Sanna-Cherchi S, Kiryluk K, Allen AS, Fellström BC, Haefliger C, Platt A, Goldstein DB, Gharavi AG.

J Am Soc Nephrol. 2019 Jun;30(6):1109-1122. doi: 10.1681/ASN.2018090909. Epub 2019 May 13.

PMID:
31085678
3.

Expanding opportunities and emerging challenges: broadening the scope of genetic testing in nephrology.

Groopman EE, Gharavi AG.

Kidney Int. 2019 Apr;95(4):743-746. doi: 10.1016/j.kint.2018.12.032.

PMID:
30904063
4.

Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel.

Chiang T, Liu X, Wu TJ, Hu J, Sedlazeck FJ, White S, Schaid D, Andrade M, Jarvik GP, Crosslin D, Stanaway I, Carrell DS, Connolly JJ, Hakonarson H, Groopman EE, Gharavi AG, Fedotov A, Bi W, Leduc MS, Murdock DR, Jiang Y, Meng L, Eng CM, Wen S, Yang Y, Muzny DM, Boerwinkle E, Salerno W, Venner E, Gibbs RA.

Genet Med. 2019 Mar 20. doi: 10.1038/s41436-019-0475-4. [Epub ahead of print]

PMID:
30890783
5.

Unusual Case of Lipoprotein Glomerulopathy First Diagnosed in a Protocol Kidney Allograft Biopsy.

Batal I, Fakhoury G, Groopman E, D'Agati VD, Morris H.

Kidney Int Rep. 2018 Sep 28;4(2):350-354. doi: 10.1016/j.ekir.2018.09.020. eCollection 2019 Feb. No abstract available.

6.

Diagnostic Utility of Exome Sequencing for Kidney Disease.

Groopman EE, Marasa M, Cameron-Christie S, Petrovski S, Aggarwal VS, Milo-Rasouly H, Li Y, Zhang J, Nestor J, Krithivasan P, Lam WY, Mitrotti A, Piva S, Kil BH, Chatterjee D, Reingold R, Bradbury D, DiVecchia M, Snyder H, Mu X, Mehl K, Balderes O, Fasel DA, Weng C, Radhakrishnan J, Canetta P, Appel GB, Bomback AS, Ahn W, Uy NS, Alam S, Cohen DJ, Crew RJ, Dube GK, Rao MK, Kamalakaran S, Copeland B, Ren Z, Bridgers J, Malone CD, Mebane CM, Dagaonkar N, Fellström BC, Haefliger C, Mohan S, Sanna-Cherchi S, Kiryluk K, Fleckner J, March R, Platt A, Goldstein DB, Gharavi AG.

N Engl J Med. 2019 Jan 10;380(2):142-151. doi: 10.1056/NEJMoa1806891. Epub 2018 Dec 26.

PMID:
30586318
7.

The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome Sequencing.

Rasouly HM, Groopman EE, Heyman-Kantor R, Fasel DA, Mitrotti A, Westland R, Bier L, Weng C, Ren Z, Copeland B, Krithivasan P, Chung WK, Sanna-Cherchi S, Goldstein DB, Gharavi AG.

Ann Intern Med. 2018 Nov 27. doi: 10.7326/M18-1241. [Epub ahead of print]

PMID:
30476936
8.

Direct, uncorrected, molecule-free analysis of 236U from uranium-bearing particles with NAUTILUS: a new kind of mass spectrometer.

Willingham D, Groopman EE, Grabowski KS, Sangely L.

Analyst. 2018 Nov 5;143(22):5364-5371. doi: 10.1039/c8an01451e.

PMID:
30207330
9.

Discovery of fissionogenic Cs and Ba capture five years after Oklo reactor shutdown.

Groopman EE, Willingham DG, Meshik AP, Pravdivtseva OV.

Proc Natl Acad Sci U S A. 2018 Aug 28;115(35):8676-8681. doi: 10.1073/pnas.1807267115. Epub 2018 Aug 13.

10.

Whole-Exome Sequencing in Adults With Chronic Kidney Disease.

Kiryluk K, Groopman E, Rasouly H, Garcia CK, Gharavi AG.

Ann Intern Med. 2018 Jul 17;169(2):132-133. doi: 10.7326/L18-0207. No abstract available.

PMID:
30014107
11.

Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes.

Son JH, Xie G, Yuan C, Ena L, Li Z, Goldstein A, Huang L, Wang L, Shen F, Liu H, Mehl K, Groopman EE, Marasa M, Kiryluk K, Gharavi AG, Chung WK, Hripcsak G, Friedman C, Weng C, Wang K.

Am J Hum Genet. 2018 Jul 5;103(1):58-73. doi: 10.1016/j.ajhg.2018.05.010. Epub 2018 Jun 28.

12.

Genomic medicine for kidney disease.

Groopman EE, Rasouly HM, Gharavi AG.

Nat Rev Nephrol. 2018 Feb;14(2):83-104. doi: 10.1038/nrneph.2017.167. Epub 2018 Jan 8. Review.

13.

Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.

Lata S, Marasa M, Li Y, Fasel DA, Groopman E, Jobanputra V, Rasouly H, Mitrotti A, Westland R, Verbitsky M, Nestor J, Slater LM, D'Agati V, Zaniew M, Materna-Kiryluk A, Lugani F, Caridi G, Rampoldi L, Mattoo A, Newton CA, Rao MK, Radhakrishnan J, Ahn W, Canetta PA, Bomback AS, Appel GB, Antignac C, Markowitz GS, Garcia CK, Kiryluk K, Sanna-Cherchi S, Gharavi AG.

Ann Intern Med. 2018 Jan 16;168(2):100-109. doi: 10.7326/M17-1319. Epub 2017 Dec 5. Erratum in: Ann Intern Med. 2018 Feb 20;168(4):308.

14.

Towards precision nephrology: the opportunities and challenges of genomic medicine.

Nestor JG, Groopman EE, Gharavi AG.

J Nephrol. 2018 Feb;31(1):47-60. doi: 10.1007/s40620-017-0448-0. Epub 2017 Oct 17. Review.

15.

Measurement of Uranium Isotopes in Particles of U3O8 by Secondary Ion Mass Spectrometry-Single-Stage Accelerator Mass Spectrometry (SIMS-SSAMS).

Fahey AJ, Groopman EE, Grabowski KS, Fazel KC.

Anal Chem. 2016 Jul 19;88(14):7145-53. doi: 10.1021/acs.analchem.6b01209. Epub 2016 Jun 29.

PMID:
27321905
16.

Genetic Evidence of Human Adaptation to a Cooked Diet.

Carmody RN, Dannemann M, Briggs AW, Nickel B, Groopman EE, Wrangham RW, Kelso J.

Genome Biol Evol. 2016 Apr 13;8(4):1091-103. doi: 10.1093/gbe/evw059.

17.

Cooking increases net energy gain from a lipid-rich food.

Groopman EE, Carmody RN, Wrangham RW.

Am J Phys Anthropol. 2015 Jan;156(1):11-8. doi: 10.1002/ajpa.22622. Epub 2014 Oct 8.

18.

Jamming in systems with quenched disorder.

Olson Reichhardt CJ, Groopman E, Nussinov Z, Reichhardt C.

Phys Rev E Stat Nonlin Soft Matter Phys. 2012 Dec;86(6 Pt 1):061301. Epub 2012 Dec 3.

PMID:
23367926

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