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Items: 47

1.

Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals".

Yap KL, Johnson AEK, Fischer D, Kandikatla P, Deml J, Nelakuditi V, Halbach S, Jeha GS, Burrage LC, Bodamer O, Benavides VC, Lewis AM, Ellard S, Shah P, Cody D, Diaz A, Devarajan A, Truong L, Greeley SAW, De Leon DD, Edmondson AC, Das S, Thornton P, Waggoner D, Del Gaudio D.

Genet Med. 2018 Aug 11. doi: 10.1038/s41436-018-0126-1. [Epub ahead of print]

PMID:
30097611
2.

Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension.

Kho J, Tian X, Wong WT, Bertin T, Jiang MM, Chen S, Jin Z, Shchelochkov OA, Burrage LC, Reddy AK, Jiang H, Abo-Zahrah R, Ma S, Zhang P, Bissig KD, Kim JJ, Devaraj S, Rodney GG, Erez A, Bryan NS, Nagamani SCS, Lee BH.

Am J Hum Genet. 2018 Aug 2;103(2):276-287. doi: 10.1016/j.ajhg.2018.07.008.

PMID:
30075114
3.

Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma.

Machol K, Jankovic J, Vijayakumar D, Burrage LC, Jain M, Lewis RA, Fuller GN, Xu M, Penas-Prado M, Gule-Monroe MK, Rosenfeld JA, Chen R, Eng CM, Yang Y, Lee BH, Moretti PM; Undiagnosed Diseases Network, Dhar SU.

Neurol Genet. 2018 Jul 20;4(4):e248. doi: 10.1212/NXG.0000000000000248. eCollection 2018 Aug. No abstract available.

4.

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals.

Yap KL, Johnson AEK, Fischer D, Kandikatla P, Deml J, Nelakuditi V, Halbach S, Jeha GS, Burrage LC, Bodamer O, Benavides VC, Lewis AM, Ellard S, Shah P, Cody D, Diaz A, Devarajan A, Truong L, Greeley SAW, De Leó-Crutchlow DD, Edmondson AC, Das S, Thornton P, Waggoner D, Del Gaudio D.

Genet Med. 2018 Jun 15. doi: 10.1038/s41436-018-0013-9. [Epub ahead of print] Erratum in: Genet Med. 2018 Aug 11;:.

PMID:
29907798
5.

Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.

Larson AA, Balasubramaniam S, Christodoulou J, Burrage LC, Marom R, Graham BH, Diaz GA, Glamuzina E, Hauser N, Heese B, Horvath G, Mattman A, van Karnebeek C, Lane Rutledge S, Williamson A, Estrella L, Van Hove JKL, Weisfeld-Adams JD.

Mitochondrion. 2018 Jan 4. pii: S1567-7249(17)30089-2. doi: 10.1016/j.mito.2018.01.001. [Epub ahead of print]

PMID:
29307858
6.

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.

Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi AR, Vetrini F, Zhang J, He W, Dharmadhikari AV, Qu C, Ward P, Braxton A, Narayanan S, Ge X, Tokita MJ, Santiago-Sim T, Dai H, Chiang T, Smith H, Azamian MS, Robak L, Bostwick BL, Schaaf CP, Potocki L, Scaglia F, Bacino CA, Hanchard NA, Wangler MF, Scott D, Brown C, Hu J, Belmont JW, Burrage LC, Graham BH, Sutton VR, Craigen WJ, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Muzny DM, Miller MJ, Wang X, Leduc MS, Xiao R, Liu P, Shaw C, Walkiewicz M, Bi W, Xia F, Lee B, Eng CM, Yang Y, Lalani SR.

JAMA Pediatr. 2017 Dec 4;171(12):e173438. doi: 10.1001/jamapediatrics.2017.3438. Epub 2017 Dec 4.

PMID:
28973083
7.

Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy.

Abbott M, Jain M, Pferdehirt R, Chen Y, Tran A, Duz MB, Seven M, Gibbs RA, Muzny D, Lee B, Marom R, Burrage LC.

Am J Med Genet A. 2017 Oct;173(10):2789-2794. doi: 10.1002/ajmg.a.38383. Epub 2017 Aug 16.

PMID:
28815944
8.

Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening.

Almannai M, Marom R, Divin K, Scaglia F, Sutton VR, Craigen WJ, Lee B, Burrage LC, Graham BH.

Mol Genet Metab. 2017 Sep;122(1-2):60-66. doi: 10.1016/j.ymgme.2017.06.011. Epub 2017 Jun 29.

PMID:
28693988
9.

Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.

Marom R, Jain M, Burrage LC, Song IW, Graham BH, Brown CW, Stevens SJC, Stegmann APA, Gunter AT, Kaplan JD, Gavrilova RH, Shinawi M, Rosenfeld JA, Bae Y, Tran AA, Chen Y, Lu JT, Gibbs RA, Eng C, Yang Y, Rousseau J, de Vries BBA, Campeau PM, Lee B.

Hum Mutat. 2017 Oct;38(10):1365-1371. doi: 10.1002/humu.23282. Epub 2017 Jul 10.

PMID:
28649782
10.

Lung Transplantation for FLNA-Associated Progressive Lung Disease.

Burrage LC, Guillerman RP, Das S, Singh S, Schady DA, Morris SA, Walkiewicz M, Schecter MG, Heinle JS, Lotze TE, Lalani SR, Mallory GB.

J Pediatr. 2017 Jul;186:118-123.e6. doi: 10.1016/j.jpeds.2017.03.045. Epub 2017 Apr 28.

11.

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.

Santiago-Sim T, Burrage LC, Ebstein F, Tokita MJ, Miller M, Bi W, Braxton AA, Rosenfeld JA, Shahrour M, Lehmann A, Cogné B, Küry S, Besnard T, Isidor B, Bézieau S, Hazart I, Nagakura H, Immken LL, Littlejohn RO, Roeder E; EuroEPINOMICS RES Consortium Autosomal Recessive working group, S. Hande Caglayan, Kara B, Hardies K, Weckhuysen S, May P, Lemke JR, Elpeleg O, Abu-Libdeh B, James KN, Silhavy JL, Issa MY, Zaki MS, Gleeson JG, Seavitt JR, Dickinson ME, Ljungberg MC, Wells S, Johnson SJ, Teboul L, Eng CM, Yang Y, Kloetzel PM, Heaney JD, Walkiewicz MA.

Am J Hum Genet. 2017 Apr 6;100(4):676-688. doi: 10.1016/j.ajhg.2017.03.001. Epub 2017 Mar 23.

12.

Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.

Machol K, Jain M, Almannai M, Orand T, Lu JT, Tran A, Chen Y, Schlesinger A, Gibbs R, Bonafe L, Campos-Xavier AB, Unger S, Superti-Furga A, Lee BH, Campeau PM, Burrage LC.

Am J Med Genet A. 2017 Mar;173(3):733-739. doi: 10.1002/ajmg.a.38059. Epub 2016 Nov 26.

13.

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.

Eldomery MK, Akdemir ZC, Vögtle FN, Charng WL, Mulica P, Rosenfeld JA, Gambin T, Gu S, Burrage LC, Al Shamsi A, Penney S, Jhangiani SN, Zimmerman HH, Muzny DM, Wang X, Tang J, Medikonda R, Ramachandran PV, Wong LJ, Boerwinkle E, Gibbs RA, Eng CM, Lalani SR, Hertecant J, Rodenburg RJ, Abdul-Rahman OA, Yang Y, Xia F, Wang MC, Lupski JR, Meisinger C, Sutton VR.

Genome Med. 2016 Nov 1;8(1):106.

14.

Erratum to: Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism.

Miller MJ, Kennedy AD, Eckhart AD, Burrage LC, Wulff JE, Miller LAD, Milburn MV, Ryals JA, Beaudet AL, Sun Q, Sutton VR, Elsea SH.

J Inherit Metab Dis. 2016 Sep;39(5):757. doi: 10.1007/s10545-016-9944-y. No abstract available.

PMID:
27225280
15.

Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency.

Atwal PS, Medina CR, Burrage LC, Sutton VR.

J Hum Genet. 2016 Jul;61(7):669-72. doi: 10.1038/jhg.2016.20. Epub 2016 Mar 17.

16.

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

Burrage LC, Charng WL, Eldomery MK, Willer JR, Davis EE, Lugtenberg D, Zhu W, Leduc MS, Akdemir ZC, Azamian M, Zapata G, Hernandez PP, Schoots J, de Munnik SA, Roepman R, Pearring JN, Jhangiani S, Katsanis N, Vissers LE, Brunner HG, Beaudet AL, Rosenfeld JA, Muzny DM, Gibbs RA, Eng CM, Xia F, Lalani SR, Lupski JR, Bongers EM, Yang Y.

Am J Hum Genet. 2015 Dec 3;97(6):904-13. doi: 10.1016/j.ajhg.2015.11.006.

17.

Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma.

Burrage LC, Miller MJ, Wong LJ, Kennedy AD, Sutton VR, Sun Q, Elsea SH, Graham BH.

J Pediatr. 2016 Feb;169:208-13.e2. doi: 10.1016/j.jpeds.2015.10.045. Epub 2015 Nov 18.

18.

Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.

Miller MJ, Burrage LC, Gibson JB, Strenk ME, Lose EJ, Bick DP, Elsea SH, Sutton VR, Sun Q, Graham BH, Craigen WJ, Zhang VW, Wong LJ.

Mol Genet Metab. 2015 Nov;116(3):139-45. doi: 10.1016/j.ymgme.2015.08.011. Epub 2015 Sep 2.

19.

Catel-Manzke Syndrome: Further Delineation of the Phenotype Associated with Pathogenic Variants in TGDS.

Pferdehirt R, Jain M, Blazo MA, Lee B, Burrage LC.

Mol Genet Metab Rep. 2015 Sep 1;4:89-91.

20.

Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency.

Burrage LC, Sun Q, Elsea SH, Jiang MM, Nagamani SC, Frankel AE, Stone E, Alters SE, Johnson DE, Rowlinson SW, Georgiou G; Members of Urea Cycle Disorders Consortium, Lee BH.

Hum Mol Genet. 2015 Nov 15;24(22):6417-27. doi: 10.1093/hmg/ddv352. Epub 2015 Sep 10.

21.

Inherited Metabolic Disorders: Aspects of Chronic Nutrition Management.

Boyer SW, Barclay LJ, Burrage LC.

Nutr Clin Pract. 2015 Aug;30(4):502-10. doi: 10.1177/0884533615586201. Epub 2015 Jun 16. Review.

22.

De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations.

Probst FJ, James RA, Burrage LC, Rosenfeld JA, Bohan TP, Ward Melver CH, Magoulas P, Austin E, Franklin AI, Azamian M, Xia F, Patel A, Bi W, Bacino C, Belmont JW, Ware SM, Shaw C, Cheung SW, Lalani SR.

Orphanet J Rare Dis. 2015 Jun 14;10:75. doi: 10.1186/s13023-015-0291-0.

23.

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

Chong JX, Burrage LC, Beck AE, Marvin CT, McMillin MJ, Shively KM, Harrell TM, Buckingham KJ, Bacino CA, Jain M, Alanay Y, Berry SA, Carey JC, Gibbs RA, Lee BH, Krakow D, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics, Bamshad MJ.

Am J Hum Genet. 2015 May 7;96(5):841-9. doi: 10.1016/j.ajhg.2015.04.004.

24.

Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism.

Miller MJ, Kennedy AD, Eckhart AD, Burrage LC, Wulff JE, Miller LA, Milburn MV, Ryals JA, Beaudet AL, Sun Q, Sutton VR, Elsea SH.

J Inherit Metab Dis. 2015 Nov;38(6):1029-39. doi: 10.1007/s10545-015-9843-7. Epub 2015 Apr 15. Erratum in: J Inherit Metab Dis. 2016 Sep;39(5):757.

25.

Adult presentation of X-linked Conradi-Hünermann-Happle syndrome.

Posey JE, Burrage LC, Campeau PM, Lu JT, Eble TN, Kratz L, Schlesinger AE, Gibbs RA, Lee BH, Nagamani SC.

Am J Med Genet A. 2015 Jun;167(6):1309-14. doi: 10.1002/ajmg.a.36899. Epub 2015 Apr 2.

26.

Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.

Lalani SR, Zhang J, Schaaf CP, Brown CW, Magoulas P, Tsai AC, El-Gharbawy A, Wierenga KJ, Bartholomew D, Fong CT, Barbaro-Dieber T, Kukolich MK, Burrage LC, Austin E, Keller K, Pastore M, Fernandez F, Lotze T, Wilfong A, Purcarin G, Zhu W, Craigen WJ, McGuire M, Jain M, Cooney E, Azamian M, Bainbridge MN, Muzny DM, Boerwinkle E, Person RE, Niu Z, Eng CM, Lupski JR, Gibbs RA, Beaudet AL, Yang Y, Wang MC, Xia F.

Am J Hum Genet. 2014 Nov 6;95(5):579-83. doi: 10.1016/j.ajhg.2014.09.014. Epub 2014 Oct 16.

27.

Lysinuric Protein Intolerance Presenting with Multiple Fractures.

Posey JE, Burrage LC, Miller MJ, Liu P, Hardison MT, Elsea SH, Sun Q, Yang Y, Willis AS, Schlesinger AE, Bacino CA, Lee BH.

Mol Genet Metab Rep. 2014;1:176-183.

28.

Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders.

Burrage LC, Jain M, Gandolfo L, Lee BH; Members of the Urea Cycle Disorders Consortium, Nagamani SC.

Mol Genet Metab. 2014 Sep-Oct;113(1-2):131-5. doi: 10.1016/j.ymgme.2014.06.005. Epub 2014 Jul 3.

29.

Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene.

Burrage LC, Tang S, Wang J, Donti TR, Walkiewicz M, Luchak JM, Chen LC, Schmitt ES, Niu Z, Erana R, Hunter JV, Graham BH, Wong LJ, Scaglia F.

Mol Genet Metab. 2014 Nov;113(3):207-12. doi: 10.1016/j.ymgme.2014.06.004. Epub 2014 Jun 30.

30.

Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders.

Burrage LC, Nagamani SC, Campeau PM, Lee BH.

Hum Mol Genet. 2014 Sep 15;23(R1):R1-8. doi: 10.1093/hmg/ddu123. Epub 2014 Mar 20. Review.

31.

The genetic basis of DOORS syndrome: an exome-sequencing study.

Campeau PM, Kasperaviciute D, Lu JT, Burrage LC, Kim C, Hori M, Powell BR, Stewart F, Félix TM, van den Ende J, Wisniewska M, Kayserili H, Rump P, Nampoothiri S, Aftimos S, Mey A, Nair LD, Begleiter ML, De Bie I, Meenakshi G, Murray ML, Repetto GM, Golabi M, Blair E, Male A, Giuliano F, Kariminejad A, Newman WG, Bhaskar SS, Dickerson JE, Kerr B, Banka S, Giltay JC, Wieczorek D, Tostevin A, Wiszniewska J, Cheung SW, Hennekam RC, Gibbs RA, Lee BH, Sisodiya SM.

Lancet Neurol. 2014 Jan;13(1):44-58. doi: 10.1016/S1474-4422(13)70265-5. Epub 2013 Nov 29.

32.

Pulmonary nodules in an immunocompetent child with cat scratch disease.

Bandyopadhyay A, Burrage LC, Gonzalez BE.

Pediatr Infect Dis J. 2013 Dec;32(12):1390-2. doi: 10.1097/INF.0000000000000069.

PMID:
24030347
33.

Early childhood presentation of Czech dysplasia.

Burrage LC, Lu JT, Liu DS, Moss TJ, Gibbs R, Schlesinger AE, Bacino CA, Campeau PM, Lee BH.

Clin Dysmorphol. 2013 Apr;22(2):76-80. doi: 10.1097/MCD.0b013e32835fff39. No abstract available.

34.

A mosaic 2q24.2 deletion narrows the critical region to a 0.4 Mb interval that includes TBR1, TANK, and PSMD14.

Burrage LC, Eble TN, Hixson PM, Roney EK, Cheung SW, Franco LM.

Am J Med Genet A. 2013 Apr;161A(4):841-4. doi: 10.1002/ajmg.a.35751. Epub 2013 Feb 26.

PMID:
23444363
35.

De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome.

Burrage LC, Person RE, Flores A, Villanos MT, Bi W, Wiszniewska J, Bacino CA.

Am J Med Genet A. 2012 Oct;158A(10):2557-63. doi: 10.1002/ajmg.a.35549. Epub 2012 Aug 17.

PMID:
22903639
36.

High prevalence of overweight and obesity in females with phenylketonuria.

Burrage LC, McConnell J, Haesler R, O'Riordan MA, Sutton VR, Kerr DS, McCandless SE.

Mol Genet Metab. 2012 Sep;107(1-2):43-8. doi: 10.1016/j.ymgme.2012.07.006. Epub 2012 Jul 16.

PMID:
22846370
37.

Deep congenic analysis identifies many strong, context-dependent QTLs, one of which, Slc35b4, regulates obesity and glucose homeostasis.

Yazbek SN, Buchner DA, Geisinger JM, Burrage LC, Spiezio SH, Zentner GE, Hsieh CW, Scacheri PC, Croniger CM, Nadeau JH.

Genome Res. 2011 Jul;21(7):1065-73. doi: 10.1101/gr.120741.111. Epub 2011 Apr 19.

38.

Increased mitochondrial oxidative phosphorylation in the liver is associated with obesity and insulin resistance.

Buchner DA, Yazbek SN, Solinas P, Burrage LC, Morgan MG, Hoppel CL, Nadeau JH.

Obesity (Silver Spring). 2011 May;19(5):917-24. doi: 10.1038/oby.2010.214. Epub 2010 Sep 30. Erratum in: Obesity (Silver Spring). 2011 Nov;19(11):2286.

39.

Analyzing complex traits with congenic strains.

Shao H, Sinasac DS, Burrage LC, Hodges CA, Supelak PJ, Palmert MR, Moreno C, Cowley AW Jr, Jacob HJ, Nadeau JH.

Mamm Genome. 2010 Jun;21(5-6):276-86. doi: 10.1007/s00335-010-9267-5. Epub 2010 Jun 4.

40.

Genetic resistance to diet-induced obesity in chromosome substitution strains of mice.

Burrage LC, Baskin-Hill AE, Sinasac DS, Singer JB, Croniger CM, Kirby A, Kulbokas EJ, Daly MJ, Lander ES, Broman KW, Nadeau JH.

Mamm Genome. 2010 Apr;21(3-4):115-29. doi: 10.1007/s00335-010-9247-9. Epub 2010 Feb 3.

41.

Genetic factors for resistance to diet-induced obesity and associated metabolic traits on mouse chromosome 17.

Millward CA, Burrage LC, Shao H, Sinasac DS, Kawasoe JH, Hill-Baskin AE, Ernest SR, Gornicka A, Hsieh CW, Pisano S, Nadeau JH, Croniger CM.

Mamm Genome. 2009 Feb;20(2):71-82. doi: 10.1007/s00335-008-9165-2. Epub 2009 Jan 10.

42.

Genetic architecture of complex traits: large phenotypic effects and pervasive epistasis.

Shao H, Burrage LC, Sinasac DS, Hill AE, Ernest SR, O'Brien W, Courtland HW, Jepsen KJ, Kirby A, Kulbokas EJ, Daly MJ, Broman KW, Lander ES, Nadeau JH.

Proc Natl Acad Sci U S A. 2008 Dec 16;105(50):19910-4. doi: 10.1073/pnas.0810388105. Epub 2008 Dec 9.

43.

Resistance to diet-induced obesity in mice with a single substituted chromosome.

Buchner DA, Burrage LC, Hill AE, Yazbek SN, O'Brien WE, Croniger CM, Nadeau JH.

Physiol Genomics. 2008 Sep 17;35(1):116-22. doi: 10.1152/physiolgenomics.00033.2008. Epub 2008 Jul 15.

44.

A quantitative trait locus on chromosome 6 regulates the onset of puberty in mice.

Nathan BM, Hodges CA, Supelak PJ, Burrage LC, Nadeau JH, Palmert MR.

Endocrinology. 2006 Nov;147(11):5132-8. Epub 2006 Jul 27.

PMID:
16873534
45.

Genetic dissection of complex traits with chromosome substitution strains of mice.

Singer JB, Hill AE, Burrage LC, Olszens KR, Song J, Justice M, O'Brien WE, Conti DV, Witte JS, Lander ES, Nadeau JH.

Science. 2004 Apr 16;304(5669):445-8. Epub 2004 Mar 18.

46.

Pleiotropy, homeostasis, and functional networks based on assays of cardiovascular traits in genetically randomized populations.

Nadeau JH, Burrage LC, Restivo J, Pao YH, Churchill G, Hoit BD.

Genome Res. 2003 Sep;13(9):2082-91.

47.

Maternal folate polymorphisms and the etiology of human nondisjunction.

Hassold TJ, Burrage LC, Chan ER, Judis LM, Schwartz S, James SJ, Jacobs PA, Thomas NS.

Am J Hum Genet. 2001 Aug;69(2):434-9. Epub 2001 Jul 5.

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