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DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signaling.
Harapas CR, Robinson KS, Lay K, Wong J, Moreno Traspas R, Nabavizadeh N, Rass-Rothschild A, Boisson B, Drutman SB, Laohamonthonkul P, Bonner D, Xiong JR, Gorrell MD, Davidson S, Yu CH, Fleming MD, Gudera J, Stein J, Ben-Harosh M, Groopman E, Shimamura A, Tamary H, Kayserili H, Hatipoğlu N, Casanova JL, Bernstein JA, Zhong FL, Masters SL, Reversade B. Harapas CR, et al. Among authors: groopman e. Sci Immunol. 2022 Sep 16;7(75):eabi4611. doi: 10.1126/sciimmunol.abi4611. Epub 2022 Sep 16. Sci Immunol. 2022. PMID: 36112693 Free PMC article.
Inferring compound heterozygosity from large-scale exome sequencing data.
Guo MH, Francioli LC, Stenton SL, Goodrich JK, Watts NA, Singer-Berk M, Groopman E, Darnowsky PW, Solomonson M, Baxter S; gnomAD Project Consortium; Tiao G, Neale BM, Hirschhorn JN, Rehm HL, Daly MJ, O'Donnell-Luria A, Karczewski KJ, MacArthur DG, Samocha KE. Guo MH, et al. Among authors: groopman e. Nat Genet. 2024 Jan;56(1):152-161. doi: 10.1038/s41588-023-01608-3. Epub 2023 Dec 6. Nat Genet. 2024. PMID: 38057443
Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, Yuan B, Boone PM, Groopman EE, Délot EC, Jain D, Sanchis-Juan A; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Starita LM, Talkowski M, Montgomery SB, Bamshad MJ, Chong JX, Wheeler MT, Berger SI, O'Donnell-Luria A, Sedlazeck FJ, Miller DE. Wojcik MH, et al. Among authors: groopman ee. Am J Hum Genet. 2023 Aug 3;110(8):1229-1248. doi: 10.1016/j.ajhg.2023.06.009. Am J Hum Genet. 2023. PMID: 37541186 Free PMC article. Review.
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. Lata S, et al. Among authors: groopman e. Ann Intern Med. 2018 Jan 16;168(2):100-109. doi: 10.7326/M17-1319. Epub 2017 Dec 5. Ann Intern Med. 2018. PMID: 29204651 Free PMC article.
Pilot Study of Return of Genetic Results to Patients in Adult Nephrology.
Nestor JG, Marasa M, Milo-Rasouly H, Groopman EE, Husain SA, Mohan S, Fernandez H, Aggarwal VS, Ahram DF, Vena N, Bogyo K, Bomback AS, Radhakrishnan J, Appel GB, Ahn W, Cohen DJ, Canetta PA, Dube GK, Rao MK, Morris HK, Crew RJ, Sanna-Cherchi S, Kiryluk K, Gharavi AG. Nestor JG, et al. Among authors: groopman ee. Clin J Am Soc Nephrol. 2020 May 7;15(5):651-664. doi: 10.2215/CJN.12481019. Epub 2020 Apr 16. Clin J Am Soc Nephrol. 2020. PMID: 32299846 Free PMC article.
Type IV Collagen Mutations in Familial IgA Nephropathy.
Li Y, Groopman EE, D'Agati V, Prakash S, Zhang J, Mizerska-Wasiak M, Caliskan Y, Fasel D, Karnib HH, Bono L, Omran SA, Sabban EA, Kiryluk K, Caridi G, Ghiggeri GM, Sanna-Cherchi S, Scolari F, Gharavi AG. Li Y, et al. Among authors: groopman ee. Kidney Int Rep. 2020 Apr 24;5(7):1075-1078. doi: 10.1016/j.ekir.2020.04.011. eCollection 2020 Jul. Kidney Int Rep. 2020. PMID: 32647767 Free PMC article. No abstract available.
Genetic testing for kidney disease of unknown etiology.
Hays T, Groopman EE, Gharavi AG. Hays T, et al. Among authors: groopman ee. Kidney Int. 2020 Sep;98(3):590-600. doi: 10.1016/j.kint.2020.03.031. Epub 2020 Apr 24. Kidney Int. 2020. PMID: 32739203 Free PMC article. Review.
Cooking increases net energy gain from a lipid-rich food.
Groopman EE, Carmody RN, Wrangham RW. Groopman EE, et al. Am J Phys Anthropol. 2015 Jan;156(1):11-8. doi: 10.1002/ajpa.22622. Epub 2014 Oct 8. Am J Phys Anthropol. 2015. PMID: 25293786 Free PMC article.
41 results