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Page 1
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.
White SM, Bhoj E, Nellåker C, Lachmeijer AMA, Marshall AE, Boycott KM, Li D, Smith W, Hartley T, McBride A, Ernst ME, May AS, Wieczorek D, Abou Jamra R, Koch-Hogrebe M, Õunap K, Pajusalu S, van Gassen KLI, Sadedin S, Ellingwood S, Tan TY, Christodoulou J, Barea J, Lockhart PJ; Care4Rare Canada Consortium; Nezarati MM, Kernohan KD. White SM, et al. Among authors: barea j. Am J Hum Genet. 2021 Apr 1;108(4):749-756. doi: 10.1016/j.ajhg.2021.03.007. Epub 2021 Mar 19. Am J Hum Genet. 2021. PMID: 33743206 Free PMC article.
An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm.
Dimmock DP, Clark MM, Gaughran M, Cakici JA, Caylor SA, Clarke C, Feddock M, Chowdhury S, Salz L, Cheung C, Bird LM, Hobbs C, Wigby K, Farnaes L, Bloss CS, Kingsmore SF; RCIGM Investigators. Dimmock DP, et al. Am J Hum Genet. 2020 Nov 5;107(5):942-952. doi: 10.1016/j.ajhg.2020.10.003. Am J Hum Genet. 2020. PMID: 33157007 Free PMC article. Clinical Trial.
Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasis.
Hildreth A, Wigby K, Chowdhury S, Nahas S, Barea J, Ordonez P, Batalov S, Dimmock D, Kingsmore S; RCIGM Investigators. Hildreth A, et al. Among authors: barea j. Cold Spring Harb Mol Case Stud. 2017 Sep 1;3(5):a001966. doi: 10.1101/mcs.a001966. Print 2017 Sep. Cold Spring Harb Mol Case Stud. 2017. PMID: 28550066 Free PMC article.
Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence.
Schwahn BC, Scheffner T, Stepman H, Verloo P, Das AM, Fletcher J, Blom HJ, Benoist JF, Barshop BA, Barea JJ, Feigenbaum A. Schwahn BC, et al. Among authors: barea jj. JIMD Rep. 2020 Jan 8;52(1):3-10. doi: 10.1002/jmd2.12092. eCollection 2020 Mar. JIMD Rep. 2020. PMID: 32154053 Free PMC article.
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.
Hou YC, Yu HC, Martin R, Cirulli ET, Schenker-Ahmed NM, Hicks M, Cohen IV, Jönsson TJ, Heister R, Napier L, Swisher CL, Dominguez S, Tang H, Li W, Perkins BA, Barea J, Rybak C, Smith E, Duchicela K, Doney M, Brar P, Hernandez N, Kirkness EF, Kahn AM, Venter JC, Karow DS, Caskey CT. Hou YC, et al. Among authors: barea j. Proc Natl Acad Sci U S A. 2020 Feb 11;117(6):3053-3062. doi: 10.1073/pnas.1909378117. Epub 2020 Jan 24. Proc Natl Acad Sci U S A. 2020. PMID: 31980526 Free PMC article.
Clinical Characteristics and Management of Patients with Secondary Hyperparathyroidism Undergoing Hemodialysis: A Feasibility Analysis of Electronic Health Records Using Natural Language Processing.
Ortiz A, Portoles J, Pino-Pino MD, Barea J, López M, de Sequera P, Quiroga B, Echarri R, Prieto Velasco M, Díaz R, Gómez Marqués G, Sanchez Perez P, Torregrosa V, Rodriguez M; SAVANA Research Group,; SENEFRO-BD-SHPT working group. Ortiz A, et al. Among authors: barea j. Kidney Dis (Basel). 2023 Jan 23;9(3):187-196. doi: 10.1159/000528784. eCollection 2023 May. Kidney Dis (Basel). 2023. PMID: 37497203 Free PMC article.
Triglyceride Lowering with Pemafibrate to Reduce Cardiovascular Risk.
Das Pradhan A, Glynn RJ, Fruchart JC, MacFadyen JG, Zaharris ES, Everett BM, Campbell SE, Oshima R, Amarenco P, Blom DJ, Brinton EA, Eckel RH, Elam MB, Felicio JS, Ginsberg HN, Goudev A, Ishibashi S, Joseph J, Kodama T, Koenig W, Leiter LA, Lorenzatti AJ, Mankovsky B, Marx N, Nordestgaard BG, Páll D, Ray KK, Santos RD, Soran H, Susekov A, Tendera M, Yokote K, Paynter NP, Buring JE, Libby P, Ridker PM; PROMINENT Investigators. Das Pradhan A, et al. N Engl J Med. 2022 Nov 24;387(21):1923-1934. doi: 10.1056/NEJMoa2210645. Epub 2022 Nov 5. N Engl J Med. 2022. PMID: 36342113 Clinical Trial.
Experience With the Use of Baricitinib and Tocilizumab Monotherapy or Combined, in Patients With Interstitial Pneumonia Secondary to Coronavirus COVID19: A Real-World Study.
Rosas J, Liaño FP, Cantó ML, Barea JMC, Beser AR, Rabasa JTA, Adsuar FM, Auli BV, López IF, Sainz AMG, Ramis PE, Pérez LR, Rebollo MLN, Lorido RH, Escolar LG; COVID19-HMB Group. Rosas J, et al. Among authors: barea jmc. Reumatol Clin (Engl Ed). 2022 Mar;18(3):150-156. doi: 10.1016/j.reumae.2020.10.006. Reumatol Clin (Engl Ed). 2022. PMID: 35277213 Free PMC article.
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