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Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.

Leslie ND, Valencia CA, Strauss AW, Zhang K.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2009 May 28 [updated 2019 May 23].


Genetic variants in acute, acute recurrent and chronic pancreatitis affect the progression of disease in children.

Abu-El-Haija M, Valencia CA, Hornung L, Youssef N, Thompson T, Barasa NW, Wang X, Denson LA.

Pancreatology. 2019 Jun;19(4):535-540. doi: 10.1016/j.pan.2019.05.001. Epub 2019 May 7.


Reply to Lutz-Bonengel et al.: Biparental mtDNA transmission is unlikely to be the result of nuclear mitochondrial DNA segments.

Luo S, Valencia CA, Zhang J, Lee NC, Slone J, Gui B, Wang X, Li Z, Dell S, Brown J, Chen SM, Chien YH, Hwu WL, Fan PC, Wong LJ, Atwal PS, Huang T.

Proc Natl Acad Sci U S A. 2019 Feb 5;116(6):1823-1824. doi: 10.1073/pnas.1821357116. Epub 2019 Jan 23. No abstract available.


Comparison of medical management and genetic counseling options pre- and post-whole exome sequencing for patients with positive and negative results.

Matias M, Wusik K, Neilson D, Zhang X, Valencia CA, Collins K.

J Genet Couns. 2019 Apr;28(2):182-193. doi: 10.1002/jgc4.1054. Epub 2019 Jan 16.


Biparental Inheritance of Mitochondrial DNA in Humans.

Luo S, Valencia CA, Zhang J, Lee NC, Slone J, Gui B, Wang X, Li Z, Dell S, Brown J, Chen SM, Chien YH, Hwu WL, Fan PC, Wong LJ, Atwal PS, Huang T.

Proc Natl Acad Sci U S A. 2018 Dec 18;115(51):13039-13044. doi: 10.1073/pnas.1810946115. Epub 2018 Nov 26.


Prevalence of abnormal glucose metabolism in pediatric acute, acute recurrent and chronic pancreatitis.

Abu-El-Haija M, Hornung L, Denson LA, Husami A, Lin TK, Matlock K, Nathan JD, Palermo JJ, Thompson T, Valencia CA, Wang X, Woo J, Zhang K, Elder D.

PLoS One. 2018 Oct 31;13(10):e0204979. doi: 10.1371/journal.pone.0204979. eCollection 2018.


Group I Paks are essential for epithelial- mesenchymal transition in an Apc-driven model of colorectal cancer.

Chow HY, Dong B, Valencia CA, Zeng CT, Koch JN, Prudnikova TY, Chernoff J.

Nat Commun. 2018 Aug 27;9(1):3473. doi: 10.1038/s41467-018-05935-6.


Genetic and Transcriptomic Variation Linked to Neutrophil Granulocyte-Macrophage Colony-Stimulating Factor Signaling in Pediatric Crohn's Disease.

Denson LA, Jurickova I, Karns R, Shaw KA, Cutler DJ, Okou D, Valencia CA, Dodd A, Mondal K, Aronow BJ, Haberman Y, Linn A, Price A, Bezold R, Lake K, Jackson K, Walters TD, Griffiths A, Baldassano RN, Noe JD, Hyams JS, Crandall WV, Kirschner BS, Heyman MB, Snapper S, Guthery SL, Dubinsky MC, Leleiko NS, Otley AR, Xavier RJ, Stevens C, Daly MJ, Zwick ME, Kugathasan S.

Inflamm Bowel Dis. 2019 Feb 21;25(3):547-560. doi: 10.1093/ibd/izy265.


Validation of the diagnostic potential of mtDNA copy number derived from whole genome sequencing.

Brockhage R, Slone J, Ma Z, Hegde MR, Valencia CA, Huang T.

J Genet Genomics. 2018 Jun 6. pii: S1673-8527(18)30098-5. doi: 10.1016/j.jgg.2018.06.001. [Epub ahead of print] No abstract available.


Zebrafish abcb11b mutant reveals strategies to restore bile excretion impaired by bile salt export pump deficiency.

Ellis JL, Bove KE, Schuetz EG, Leino D, Valencia CA, Schuetz JD, Miethke A, Yin C.

Hepatology. 2018 Apr;67(4):1531-1545. doi: 10.1002/hep.29632. Epub 2018 Feb 23.


Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.

Peng Y, Shinde DN, Valencia CA, Mo JS, Rosenfeld J, Truitt Cho M, Chamberlin A, Li Z, Liu J, Gui B, Brockhage R, Basinger A, Alvarez-Leon B, Heydemann P, Magoulas PL, Lewis AM, Scaglia F, Gril S, Chong SC, Bower M, Monaghan KG, Willaert R, Plona MR, Dineen R, Milan F, Hoganson G, Powis Z, Helbig KL, Keller-Ramey J, Harris B, Anderson LC, Green T, Sukoff Rizzo SJ, Kaylor J, Chen J, Guan MX, Sellars E, Sparagana SP, Gibson JB, Reinholdt LG, Tang S, Huang T.

Hum Mol Genet. 2017 Dec 15;26(24):4937-4950. doi: 10.1093/hmg/ddx377. Erratum in: Hum Mol Genet. 2018 Jun 15;27(12):2224.


Pediatric Whole Exome Sequencing: an Assessment of Parents' Perceived and Actual Understanding.

Tolusso LK, Collins K, Zhang X, Holle JR, Valencia CA, Myers MF.

J Genet Couns. 2017 Aug;26(4):792-805. doi: 10.1007/s10897-016-0052-9. Epub 2016 Dec 16.


High-Density Recombinant Adeno-Associated Viral Particles are Competent Vectors for In Vivo Transduction.

Wang Q, Firrman J, Wu Z, Pokiniewski KA, Valencia CA, Wang H, Wei H, Zhuang Z, Liu L, Wunder SL, Chin MP, Xu R, Diao Y, Dong B, Xiao W.

Hum Gene Ther. 2016 Dec;27(12):971-981. doi: 10.1089/hum.2016.055. Epub 2016 Aug 22.


Deep Sequencing Reveals Novel Genetic Variants in Children with Acute Liver Failure and Tissue Evidence of Impaired Energy Metabolism.

Valencia CA, Wang X, Wang J, Peters A, Simmons JR, Moran MC, Mathur A, Husami A, Qian Y, Sheridan R, Bove KE, Witte D, Huang T, Miethke AG.

PLoS One. 2016 Aug 2;11(8):e0156738. doi: 10.1371/journal.pone.0156738. eCollection 2016.


Genophenotypic Analysis of Pediatric Patients With Acute Recurrent and Chronic Pancreatitis.

Palermo JJ, Lin TK, Hornung L, Valencia CA, Mathur A, Jackson K, Fei L, Abu-El-Haija M.

Pancreas. 2016 Oct;45(9):1347-52. doi: 10.1097/MPA.0000000000000655.


Potential role of exosome-associated microRNA panels and in vivo environment to predict drug resistance for patients with multiple myeloma.

Zhang L, Pan L, Xiang B, Zhu H, Wu Y, Chen M, Guan P, Zou X, Valencia CA, Dong B, Li J, Xie L, Ma H, Wang F, Dong T, Shuai X, Niu T, Liu T.

Oncotarget. 2016 May 24;7(21):30876-91. doi: 10.18632/oncotarget.9021.


Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules.

Leslie N, Wang X, Peng Y, Valencia CA, Khuchua Z, Hata J, Witte D, Huang T, Bove KE.

Hum Pathol. 2016 Mar;49:27-32. doi: 10.1016/j.humpath.2015.09.039. Epub 2015 Oct 28.


Bilateral cataracts in a 6-yr-old with new onset diabetes: a novel presentation of a known INS gene mutation.

Wasserman H, Hufnagel RB, Miraldi Utz V, Zhang K, Valencia CA, Leslie ND, Crimmins NA.

Pediatr Diabetes. 2016 Nov;17(7):535-539. doi: 10.1111/pedi.12335. Epub 2015 Nov 4.


Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience.

Valencia CA, Husami A, Holle J, Johnson JA, Qian Y, Mathur A, Wei C, Indugula SR, Zou F, Meng H, Wang L, Li X, Fisher R, Tan T, Hogart Begtrup A, Collins K, Wusik KA, Neilson D, Burrow T, Schorry E, Hopkin R, Keddache M, Harley JB, Kaufman KM, Zhang K.

Front Pediatr. 2015 Aug 3;3:67. doi: 10.3389/fped.2015.00067. eCollection 2015.


Pathogenesis of ELANE-mutant severe neutropenia revealed by induced pluripotent stem cells.

Nayak RC, Trump LR, Aronow BJ, Myers K, Mehta P, Kalfa T, Wellendorf AM, Valencia CA, Paddison PJ, Horwitz MS, Grimes HL, Lutzko C, Cancelas JA.

J Clin Invest. 2015 Aug 3;125(8):3103-16. doi: 10.1172/JCI80924. Epub 2015 Jul 20.


Transfer of microRNAs by extracellular membrane microvesicles: a nascent crosstalk model in tumor pathogenesis, especially tumor cell-microenvironment interactions.

Zhang L, Valencia CA, Dong B, Chen M, Guan PJ, Pan L.

J Hematol Oncol. 2015 Feb 22;8:14. doi: 10.1186/s13045-015-0111-y. Review.


Clinical applications and implications of common and founder mutations in Indian subpopulations.

Ankala A, Tamhankar PM, Valencia CA, Rayam KK, Kumar MM, Hegde MR.

Hum Mutat. 2015 Jan;36(1):1-10. doi: 10.1002/humu.22704. Epub 2014 Nov 27. Review.


Combined immune deficiency in a patient with a novel NFKB2 mutation.

Lindsley AW, Qian Y, Valencia CA, Shah K, Zhang K, Assa'ad A.

J Clin Immunol. 2014 Nov;34(8):910-5. doi: 10.1007/s10875-014-0095-3. Epub 2014 Sep 10.


Misleading results from saliva samples of patients post-BMT in exome analyses.

Valencia CA, Indugula SR, Mathur A, Wei C, Brown JC, Cole I, Dell S, Connor J, Zhang K.

Blood. 2014 Jul 24;124(4):660-1. doi: 10.1182/blood-2014-04-572941. No abstract available.


Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis.

Zhang K, Chandrakasan S, Chapman H, Valencia CA, Husami A, Kissell D, Johnson JA, Filipovich AH.

Blood. 2014 Aug 21;124(8):1331-4. doi: 10.1182/blood-2014-05-573105. Epub 2014 Jun 10.


The struggle to find reliable results in exome sequencing data: filtering out Mendelian errors.

Patel ZH, Kottyan LC, Lazaro S, Williams MS, Ledbetter DH, Tromp H, Rupert A, Kohram M, Wagner M, Husami A, Qian Y, Valencia CA, Zhang K, Hostetter MK, Harley JB, Kaufman KM.

Front Genet. 2014 Feb 12;5:16. doi: 10.3389/fgene.2014.00016. eCollection 2014.


Development and performance of a comprehensive targeted sequencing assay for pan-ethnic screening of carrier status.

Tanner AK, Valencia CA, Rhodenizer D, Espirages M, Da Silva C, Borsuk L, Caldwell S, Gregg E, Grimes E, Lichanska AM, Morris L, Purkayastha A, Weslowski B, Tibbetts C, Lorence MC, Hegde M.

J Mol Diagn. 2014 May;16(3):350-60. doi: 10.1016/j.jmoldx.2013.12.003. Epub 2014 Feb 8.


The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3.

Qian Y, Johnson JA, Connor JA, Valencia CA, Barasa N, Schubert J, Husami A, Kissell D, Zhang G, Weirauch MT, Filipovich AH, Zhang K.

Pediatr Blood Cancer. 2014 Jun;61(6):1034-40. doi: 10.1002/pbc.24955. Epub 2014 Jan 28.


Hemodialysis catheter implantation in the axillary vein by ultrasound guidance versus palpation or anatomical reference.

Valencia CA, Villa CA, Cardona JA.

Int J Nephrol Renovasc Dis. 2013 Oct 14;6:215-21. doi: 10.2147/IJNRD.S46788. eCollection 2013.


Tribody: robust self-assembled trimeric targeting ligands with high stability and significantly improved target-binding strength.

Kim D, Kim SK, Valencia CA, Liu R.

Biochemistry. 2013 Oct 15;52(41):7283-94. doi: 10.1021/bi400716w. Epub 2013 Oct 3.


Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.

Valencia CA, Ankala A, Rhodenizer D, Bhide S, Littlejohn MR, Keong LM, Rutkowski A, Sparks S, Bonnemann C, Hegde M.

PLoS One. 2013;8(1):e53083. doi: 10.1371/journal.pone.0053083. Epub 2013 Jan 11.


In vitro selection of proteins with desired characteristics using mRNA-display.

Valencia CA, Zou J, Liu R.

Methods. 2013 Mar 15;60(1):55-69. doi: 10.1016/j.ymeth.2012.11.004. Epub 2012 Nov 28.


Heptameric targeting ligands against EGFR and HER2 with high stability and avidity.

Kim D, Yan Y, Valencia CA, Liu R.

PLoS One. 2012;7(8):e43077. doi: 10.1371/journal.pone.0043077. Epub 2012 Aug 9.


Immune evasion and recognition of the syphilis spirochete in blood and skin of secondary syphilis patients: two immunologically distinct compartments.

Cruz AR, Ramirez LG, Zuluaga AV, Pillay A, Abreu C, Valencia CA, La Vake C, Cervantes JL, Dunham-Ems S, Cartun R, Mavilio D, Radolf JD, Salazar JC.

PLoS Negl Trop Dis. 2012;6(7):e1717. doi: 10.1371/journal.pntd.0001717. Epub 2012 Jul 17.


Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy.

Valencia CA, Rhodenizer D, Bhide S, Chin E, Littlejohn MR, Keong LM, Rutkowski A, Bonnemann C, Hegde M.

J Mol Diagn. 2012 May-Jun;14(3):233-46. doi: 10.1016/j.jmoldx.2012.01.009. Epub 2012 Mar 16.


Selection of proteins with desired properties from natural proteome libraries using mRNA display.

Cotten SW, Zou J, Valencia CA, Liu R.

Nat Protoc. 2011 Jul 21;6(8):1163-82. doi: 10.1038/nprot.2011.354.


Correlation between malaria incidence and prevalence of soil-transmitted helminths in Colombia: an ecologic evaluation.

Valencia CA, Fernández JA, Cucunubá ZM, Reyes P, López MC, Duque S.

Biomedica. 2010 Oct-Dec;30(4):501-8.


Morphing low-affinity ligands into high-avidity nanoparticles by thermally triggered self-assembly of a genetically encoded polymer.

Simnick AJ, Valencia CA, Liu R, Chilkoti A.

ACS Nano. 2010 Apr 27;4(4):2217-27. doi: 10.1021/nn901732h.


mRNA-display-based selections for proteins with desired functions: a protease-substrate case study.

Valencia CA, Cotten SW, Dong B, Liu R.

Biotechnol Prog. 2008 May-Jun;24(3):561-9. doi: 10.1021/bp070473a. Epub 2008 May 10.


Modulation of nucleobindin-1 and nucleobindin-2 by caspases.

Valencia CA, Cotten SW, Duan J, Liu R.

FEBS Lett. 2008 Jan 23;582(2):286-90. Epub 2007 Dec 26.


Cleavage of BNIP-2 and BNIP-XL by caspases.

Valencia CA, Cotten SW, Liu R.

Biochem Biophys Res Commun. 2007 Dec 21;364(3):495-501. Epub 2007 Oct 15.


Fibronectin type III domain based monobody with high avidity.

Duan J, Wu J, Valencia CA, Liu R.

Biochemistry. 2007 Nov 6;46(44):12656-64. Epub 2007 Oct 12.


Ca(2+)/Calmodulin-binding proteins from the C. elegans proteome.

Shen X, Valencia CA, Gao W, Cotten SW, Dong B, Huang BC, Liu R.

Cell Calcium. 2008 May;43(5):444-56. Epub 2007 Sep 12.


Proteome-wide identification of family member-specific natural substrate repertoire of caspases.

Ju W, Valencia CA, Pang H, Ke Y, Gao W, Dong B, Liu R.

Proc Natl Acad Sci U S A. 2007 Sep 4;104(36):14294-9. Epub 2007 Aug 29.


Matrin 3 is a Ca2+/calmodulin-binding protein cleaved by caspases.

Valencia CA, Ju W, Liu R.

Biochem Biophys Res Commun. 2007 Sep 21;361(2):281-6. Epub 2007 Jul 10.


Novel zebrafish caspase-3 substrates.

Valencia CA, Bailey C, Liu R.

Biochem Biophys Res Commun. 2007 Sep 21;361(2):311-6. Epub 2007 Jul 23.


Ca(2+)/calmodulin directly interacts with the pleckstrin homology domain of AKT1.

Dong B, Valencia CA, Liu R.

J Biol Chem. 2007 Aug 24;282(34):25131-40. Epub 2007 Jun 19.


Highly-efficient purification of native polyhistidine-tagged proteins by multivalent NTA-modified magnetic nanoparticles.

Kim JS, Valencia CA, Liu R, Lin W.

Bioconjug Chem. 2007 Mar-Apr;18(2):333-41. Epub 2007 Feb 21.


Scanning the human proteome for calmodulin-binding proteins.

Shen X, Valencia CA, Szostak JW, Dong B, Liu R.

Proc Natl Acad Sci U S A. 2005 Apr 26;102(17):5969-74. Epub 2005 Apr 19. Erratum in: Proc Natl Acad Sci U S A. 2005 Jul 5;102(27):9734. Szostak, Jack [corrected to Szostak, Jack W].


Large-scale comparative genomics meta-analysis of Campylobacter jejuni isolates reveals low level of genome plasticity.

Taboada EN, Acedillo RR, Carrillo CD, Findlay WA, Medeiros DT, Mykytczuk OL, Roberts MJ, Valencia CA, Farber JM, Nash JH.

J Clin Microbiol. 2004 Oct;42(10):4566-76.

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