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Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.
Welch CL, Aldred MA, Balachandar S, Dooijes D, Eichstaedt CA, Gräf S, Houweling AC, Machado RD, Pandya D, Prapa M, Shaukat M, Southgate L, Tenorio-Castano J; ClinGen PH VCEP; Chung WK; International Consortium for Genetic Studies in Pulmonary Arterial Hypertension (PAH-ICON) at the Pulmonary Vascular Research Institute (PVRI). Welch CL, et al. Among authors: balachandar s. Genet Med. 2023 Nov;25(11):100925. doi: 10.1016/j.gim.2023.100925. Epub 2023 Jul 5. Genet Med. 2023. PMID: 37422716
Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations.
Balachandar S, Graves TJ, Shimonty A, Kerr K, Kilner J, Xiao S, Slade R, Sroya M, Alikian M, Curetean E, Thomas E, McConnell VPM, McKee S, Boardman-Pretty F, Devereau A, Fowler TA, Caulfield MJ, Alton EW, Ferguson T, Redhead J, McKnight AJ, Thomas GA; Genomics England Research Consortium; Aldred MA, Shovlin CL. Balachandar S, et al. Am J Med Genet A. 2022 Mar;188(3):959-964. doi: 10.1002/ajmg.a.62584. Epub 2021 Dec 13. Am J Med Genet A. 2022. PMID: 34904380 Free PMC article.
Diabetic ketoacidosis drives COVID-19 related hospitalizations in children with type 1 diabetes.
Alonso GT, Ebekozien O, Gallagher MP, Rompicherla S, Lyons SK, Choudhary A, Majidi S, Pinnaro CT, Balachandar S, Gangat M, Curda Roberts AJ, Marks BE, Creo A, Sanchez J, Seeherunvong T, Jimenez-Vega J, Patel NS, Wood JR, Gabriel L, Sumpter KM, Wilkes M, Rapaport R, Cymbaluk A, Wong JC, Sanda S, Albanese-O'neill A. Alonso GT, et al. Among authors: balachandar s. J Diabetes. 2021 Aug;13(8):681-687. doi: 10.1111/1753-0407.13184. Epub 2021 Apr 27. J Diabetes. 2021. PMID: 33855813 Free PMC article.
32 results