Bale A - Search Results

1

Clinical utility of genomic analysis in adults with idiopathic liver disease.

Hakim A, Zhang X, DeLisle A, Oral EA, Dykas D, Drzewiecki K, Assis DN, Silveira M, Batisti J, Jain D, Bale A, Mistry PK, Vilarinho S. Hakim A, et al. Among authors: bale a. J Hepatol. 2019 Jun;70(6):1214-1221. doi: 10.1016/j.jhep.2019.01.036. Epub 2019 Apr 15. J Hepatol. 2019. PMID: 31000363 Free PMC article.

2

Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology.

Vilarinho S, Choi M, Jain D, Malhotra A, Kulkarni S, Pashankar D, Phatak U, Patel M, Bale A, Mane S, Lifton RP, Mistry PK. Vilarinho S, et al. Among authors: bale a. J Hepatol. 2014 Nov;61(5):1056-63. doi: 10.1016/j.jhep.2014.06.038. Epub 2014 Jul 10. J Hepatol. 2014. PMID: 25016221 Free PMC article.

3

A common variant in the patatin-like phospholipase 3 gene (PNPLA3) is associated with fatty liver disease in obese children and adolescents.

Santoro N, Kursawe R, D'Adamo E, Dykas DJ, Zhang CK, Bale AE, Calí AM, Narayan D, Shaw MM, Pierpont B, Savoye M, Lartaud D, Eldrich S, Cushman SW, Zhao H, Shulman GI, Caprio S. Santoro N, et al. Hepatology. 2010 Oct;52(4):1281-90. doi: 10.1002/hep.23832. Hepatology. 2010. PMID: 20803499 Free PMC article.

4

Variant in the glucokinase regulatory protein (GCKR) gene is associated with fatty liver in obese children and adolescents.

Santoro N, Zhang CK, Zhao H, Pakstis AJ, Kim G, Kursawe R, Dykas DJ, Bale AE, Giannini C, Pierpont B, Shaw MM, Groop L, Caprio S. Santoro N, et al. Hepatology. 2012 Mar;55(3):781-9. doi: 10.1002/hep.24806. Epub 2011 Dec 18. Hepatology. 2012. PMID: 22105854 Free PMC article.

5

Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory.

Klein RD, Dykas DJ, Bale AE. Klein RD, et al. Genet Med. 2005 Nov-Dec;7(9):611-9. doi: 10.1097/01.gim.0000182879.57182.b4. Genet Med. 2005. PMID: 16301862 Free article.

6

Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults.

Seidelmann SB, Smith E, Subrahmanyan L, Dykas D, Abou Ziki MD, Azari B, Hannah-Shmouni F, Jiang Y, Akar JG, Marieb M, Jacoby D, Bale AE, Lifton RP, Mani A. Seidelmann SB, et al. Among authors: bale ae. Circ Cardiovasc Genet. 2017 Feb;10(1):e001573. doi: 10.1161/CIRCGENETICS.116.001573. Circ Cardiovasc Genet. 2017. PMID: 28087566 Free PMC article.

7

Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients.

Wen J, Chai H, Grommisch B, DiAdamo A, Dykas D, Ma D, Popa A, Zhao C, Spencer-Manzon M, Jiang YH, McGrath J, Li P, Bale A, Zhang H. Wen J, et al. Among authors: bale a. Am J Med Genet A. 2022 Jun;188(6):1728-1738. doi: 10.1002/ajmg.a.62693. Epub 2022 Feb 23. Am J Med Genet A. 2022. PMID: 35199448

8

Routine Genetic Testing for Thoracic Aortic Aneurysm and Dissection in a Clinical Setting.

Ziganshin BA, Bailey AE, Coons C, Dykas D, Charilaou P, Tanriverdi LH, Liu L, Tranquilli M, Bale AE, Elefteriades JA. Ziganshin BA, et al. Among authors: bale ae. Ann Thorac Surg. 2015 Nov;100(5):1604-11. doi: 10.1016/j.athoracsur.2015.04.106. Epub 2015 Jul 15. Ann Thorac Surg. 2015. PMID: 26188975

9

The rs626283 Variant in the MBOAT7 Gene is Associated with Insulin Resistance and Fatty Liver in Caucasian Obese Youth.

Umano GR, Caprio S, Di Sessa A, Chalasani N, Dykas DJ, Pierpont B, Bale AE, Santoro N. Umano GR, et al. Among authors: bale ae. Am J Gastroenterol. 2018 Mar;113(3):376-383. doi: 10.1038/ajg.2018.1. Epub 2018 Feb 27. Am J Gastroenterol. 2018. PMID: 29485130

10

TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD-A Novel Presentation.

Gulati A, Bale AE, Dykas DJ, Bia MJ, Danovitch GM, Moeckel GW, Somlo S, Dahl NK. Gulati A, et al. Among authors: bale ae. Am J Kidney Dis. 2018 Dec;72(6):895-899. doi: 10.1053/j.ajkd.2018.05.006. Epub 2018 Jun 22. Am J Kidney Dis. 2018. PMID: 29941221 Review.

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