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Page 1
Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.
Manickam K, Buchanan AH, Schwartz MLB, Hallquist MLG, Williams JL, Rahm AK, Rocha H, Savatt JM, Evans AE, Butry LM, Lazzeri AL, Lindbuchler DM, Flansburg CN, Leeming R, Vogel VG, Lebo MS, Mason-Suares HM, Hoskinson DC, Abul-Husn NS, Dewey FE, Overton JD, Reid JG, Baras A, Willard HF, McCormick CZ, Krishnamurthy SB, Hartzel DN, Kost KA, Lavage DR, Sturm AC, Frisbie LR, Person TN, Metpally RP, Giovanni MA, Lowry LE, Leader JB, Ritchie MD, Carey DJ, Justice AE, Kirchner HL, Faucett WA, Williams MS, Ledbetter DH, Murray MF. Manickam K, et al. Among authors: krishnamurthy sb. JAMA Netw Open. 2018 Sep 7;1(5):e182140. doi: 10.1001/jamanetworkopen.2018.2140. JAMA Netw Open. 2018. PMID: 30646163 Free PMC article.
Large-scale exome datasets reveal a new class of adaptor-related protein complex 2 sigma subunit (AP2σ) mutations, located at the interface with the AP2 alpha subunit, that impair calcium-sensing receptor signalling.
Gorvin CM, Metpally R, Stokes VJ, Hannan FM, Krishnamurthy SB, Overton JD, Reid JG, Breitwieser GE, Thakker RV. Gorvin CM, et al. Among authors: krishnamurthy sb. Hum Mol Genet. 2018 Mar 1;27(5):901-911. doi: 10.1093/hmg/ddy010. Hum Mol Genet. 2018. PMID: 29325022 Free PMC article.
Hidden Burden of Electronic Health Record-Identified Familial Hypercholesterolemia: Clinical Outcomes and Cost of Medical Care.
Patel P, Hu Y, Kolinovsky A, Geng Z, Ruhl J, Krishnamurthy S, deRichemond C, Khan A, Kirchner HL, Metpally R, Jones LK, Sturm AC, Carey D, Snyder S, Williams MS, Mehra VC. Patel P, et al. J Am Heart Assoc. 2019 Jul 2;8(13):e011822. doi: 10.1161/JAHA.118.011822. Epub 2019 Jun 29. J Am Heart Assoc. 2019. PMID: 31256702 Free PMC article.
The imperative of clinical and molecular research on neonatal opioid withdrawal syndrome.
Metpally RP, Krishnamurthy S, Moran KM, Weller AE, Crist RC, Reiner BC, Doyle GA, Ferraro TN, Radhakrishna U, Bahado-Singh R, Troiani V, Berrettini WH. Metpally RP, et al. Mol Psychiatry. 2019 Nov;24(11):1568-1571. doi: 10.1038/s41380-019-0522-1. Epub 2019 Sep 10. Mol Psychiatry. 2019. PMID: 31506603 Free PMC article. No abstract available.
Correction to: Bacterial etiology of community-acquired pneumonia in immunocompetent hospitalized patients and appropriateness of empirical treatment recommendations: an international point-prevalence study.
Carugati M, Aliberti S, Sotgiu G, Blasi F, Gori A, Menendez R, Encheva M, Gallego M, Leuschner P, Ruiz-Buitrago S, Battaglia S, Fantini R, Pascual-Guardia S, Marin-Corral J, Restrepo MI; GLIMP Collaborators. Carugati M, et al. Eur J Clin Microbiol Infect Dis. 2021 Sep;40(9):2051. doi: 10.1007/s10096-021-04295-2. Eur J Clin Microbiol Infect Dis. 2021. PMID: 34313897 Free PMC article. No abstract available.
Aspiration Risk Factors, Microbiology, and Empiric Antibiotics for Patients Hospitalized With Community-Acquired Pneumonia.
Marin-Corral J, Pascual-Guardia S, Amati F, Aliberti S, Masclans JR, Soni N, Rodriguez A, Sibila O, Sanz F, Sotgiu G, Anzueto A, Dimakou K, Petrino R, van de Garde E, Restrepo MI; GLIMP investigators. Marin-Corral J, et al. Chest. 2021 Jan;159(1):58-72. doi: 10.1016/j.chest.2020.06.079. Epub 2020 Jul 17. Chest. 2021. PMID: 32687909 Free article.
Bacterial etiology of community-acquired pneumonia in immunocompetent hospitalized patients and appropriateness of empirical treatment recommendations: an international point-prevalence study.
Carugati M, Aliberti S, Sotgiu G, Blasi F, Gori A, Menendez R, Encheva M, Gallego M, Leuschner P, Ruiz-Buitrago S, Battaglia S, Fantini R, Pascual-Guardia S, Marin-Corral J, Restrepo MI; GLIMP Collaborators. Carugati M, et al. Eur J Clin Microbiol Infect Dis. 2020 Aug;39(8):1513-1525. doi: 10.1007/s10096-020-03870-3. Epub 2020 Apr 3. Eur J Clin Microbiol Infect Dis. 2020. PMID: 32242314 Free PMC article.
14 results