Publications

A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death.Penque BA, Su L, Wang J, Ji W, Bale A, Luh F, Fulbright RK, Sarmast U, Sega AG, Konstantino M, Spencer-Manzon M, Pierce R, Yen Y, Lakhani SA. Eur J Med Genet. 2019 Nov; 2018 Nov 12. PMID: 30439532.
Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases.Jeffries L, Olivieri JE, Ji W, Spencer-Manzon M, Bale A, Konstantino M, Lakhani SA. Eur J Med Genet. 2019 Sep; 2018 Oct 6. PMID: 30300710.
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. J Hepatol. 2019 Jun; 2019 Apr 15. PMID: 31000363.
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. Am J Kidney Dis. 2018 Dec; 2018 Jun 22. PMID: 29941221.
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. Am J Gastroenterol. 2018 Mar; 2018 Feb 27. PMID: 29485130.
Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2018 Update and Clinical Implications.Brownstein AJ, Kostiuk V, Ziganshin BA, Zafar MA, Kuivaniemi H, Body SC, Bale AE, Elefteriades JA. Aorta (Stamford). 2018 Feb; 2018 Jul 27. PMID: 30079932.
Whole-exome sequencing in evaluation of patients with venous thromboembolism.Lee EJ, Dykas DJ, Leavitt AD, Camire RM, Ebberink E, García de Frutos P, Gnanasambandan K, Gu SX, Huntington JA, Lentz SR, Mertens K, Parish CR, Rezaie AR, Sayeski PP, Cromwell C, Bar N, Halene S, Neparidze N, Parker TL, Burns AJ, Dumont A, Yao X, Chaar CIO, Connors JM, Bale AE, Lee AI. Blood Adv. 2017 Jul 11; 2017 Jun 29. PMID: 29296762.
Genes Associated with Thoracic Aortic Aneurysm and Dissection: An Update and Clinical Implications.Brownstein AJ, Ziganshin BA, Kuivaniemi H, Body SC, Bale AE, Elefteriades JA. Aorta (Stamford). 2017 Feb; 2017 Feb 1. PMID: 28868310.
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. Circ Cardiovasc Genet. 2017 Feb. PMID: 28087566.
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. Ann Thorac Surg. 2015 Nov; 2015 Jul 15. PMID: 26188975.
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. Hepatology. 2012 Mar; 2011 Dec 18. PMID: 22105854.
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. Hepatology. 2010 Oct. PMID: 20803499.
A multiplex assay for the detection and mapping of complex glycerol kinase deficiency.Klein RD, Thorland EC, Gonzales PR, Beck PA, Dykas DJ, McGrath JM, Bale AE. Clin Chem. 2006 Oct; 2006 Aug 3. PMID: 16887896.
Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.Yamaguchi S, Brailey LL, Morizono H, Bale AE, Tuchman M. Hum Mutat. 2006 Jul. PMID: 16786505.
Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory.Klein RD, Dykas DJ, Bale AE. Genet Med. 2005 Nov-Dec. PMID: 16301862.
Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory.Klein RD, Salih S, Bessoni J, Bale AE. Genet Med. 2005 Feb. PMID: 15714081.