Conboy E - Search Results

1

The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients.

Vairo FP, Boczek NJ, Cousin MA, Kaiwar C, Blackburn PR, Conboy E, Lanpher BC, Gavrilova RH, Pichurin PN, Lazaridis KN, Babovic-Vuksanovic D, Klee EW. Vairo FP, et al. Among authors: conboy e. Mol Genet Metab Rep. 2017 Aug 11;13:46-51. doi: 10.1016/j.ymgmr.2017.08.001. eCollection 2017 Dec. Mol Genet Metab Rep. 2017. PMID: 28831385 Free PMC article.

2

Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines.

Conboy E, Dhamija R, Wang M, Xie J, Dyck PJ, Bridges AG, Spinner RJ, Clayton AC, Watson RE, Messiaen L, Babovic-Vuksanovic D. Conboy E, et al. J Med Genet. 2016 Feb;53(2):123-6. doi: 10.1136/jmedgenet-2015-103177. Epub 2015 Sep 2. J Med Genet. 2016. PMID: 26337637

3

Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation.

Conboy E, Vairo F, Waggoner D, Ober C, Das S, Dhamija R, Klee EW, Pichurin P. Conboy E, et al. Case Rep Genet. 2017;2017:9184265. doi: 10.1155/2017/9184265. Epub 2017 Apr 12. Case Rep Genet. 2017. PMID: 28487785 Free PMC article.

4

Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features.

Conboy E, Vairo F, Schultz M, Agre K, Ridsdale R, Deyle D, Oglesbee D, Gavrilov D, Klee EW, Lanpher B. Conboy E, et al. JIMD Rep. 2018;40:63-69. doi: 10.1007/8904_2017_59. Epub 2017 Oct 14. JIMD Rep. 2018. PMID: 29030856 Free PMC article.

5

Cryptogenic Cirrhosis and Sitosterolemia: A Treatable Disease If Identified but Fatal If Missed.

Bazerbachi F, Conboy EE, Mounajjed T, Watt KD, Babovic-Vuksanovic D, Patel SB, Kamath PS. Bazerbachi F, et al. Among authors: conboy ee. Ann Hepatol. 2017 November-December,;16(6):970-978. doi: 10.5604/01.3001.0010.5290. Ann Hepatol. 2017. PMID: 29055934 Free article.

6

Novel Homozygous Variant in TTC19 Causing Mitochondrial Complex III Deficiency with Recurrent Stroke-Like Episodes: Expanding the Phenotype.

Conboy E, Selcen D, Brodsky M, Gavrilova R, Ho ML. Conboy E, et al. Semin Pediatr Neurol. 2018 Jul;26:16-20. doi: 10.1016/j.spen.2018.04.003. Semin Pediatr Neurol. 2018. PMID: 29961508

7

Diagnosis of Attenuated Mucopolysaccharidosis VI: Clinical, Biochemical, and Genetic Pitfalls.

Pinto E Vairo F, Conboy E, de Souza CFM, Jones A, Barnett SS, Klee EW, Lanpher BC. Pinto E Vairo F, et al. Among authors: conboy e. Pediatrics. 2018 Dec;142(6):e20180658. doi: 10.1542/peds.2018-0658. Pediatrics. 2018. PMID: 30470723

8

RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas.

Oliver GR, Blackburn PR, Ellingson MS, Conboy E, Pinto E Vairo F, Webley M, Thorland E, Ferber M, Van Hul E, van der Werf IM, Wuyts W, Babovic-Vuksanovic D, Klee EW. Oliver GR, et al. Among authors: conboy e. Mol Genet Genomic Med. 2019 Mar;7(3):e00560. doi: 10.1002/mgg3.560. Epub 2019 Jan 10. Mol Genet Genomic Med. 2019. PMID: 30632316 Free PMC article.

9

Hyperammonemic encephalopathy in a patient with fibrolamellar hepatocellular carcinoma: case report and literature review.

Cho J, Chen JCY, Paludo J, Conboy EE, Lanpher BC, Alberts SR, Halfdanarson TR. Cho J, et al. Among authors: conboy ee. J Gastrointest Oncol. 2019 Jun;10(3):582-588. doi: 10.21037/jgo.2019.01.28. J Gastrointest Oncol. 2019. PMID: 31183212 Free PMC article.

10

RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.

Cousin MA, Conboy E, Wang JS, Lenz D, Schwab TL, Williams M, Abraham RS, Barnett S, El-Youssef M, Graham RP, Gutierrez Sanchez LH, Hasadsri L, Hoffmann GF, Hull NC, Kopajtich R, Kovacs-Nagy R, Li JQ, Marx-Berger D, McLin V, McNiven MA, Mounajjed T, Prokisch H, Rymen D, Schulze RJ, Staufner C, Yang Y, Clark KJ, Lanpher BC, Klee EW. Cousin MA, et al. Among authors: conboy e. Am J Hum Genet. 2019 Jul 3;105(1):108-121. doi: 10.1016/j.ajhg.2019.05.011. Epub 2019 Jun 13. Am J Hum Genet. 2019. PMID: 31204009 Free PMC article.

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