Lindsay C Burrage

Lindsay C Burrage

UNVERIFIED PROFILE

Are you Lindsay C Burrage?   Register this Author

Register author
Lindsay C Burrage

Lindsay C Burrage

Publications by authors named "Lindsay C Burrage"

Are you Lindsay C Burrage?   Register this Author

54Publications

2005Reads

49Profile Views

Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly.

Eur J Med Genet 2019 Jun 22;62(6):103531. Epub 2018 Aug 22.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children Hospital, Houston, TX, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2018.08.012DOI Listing
June 2019

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

Mitochondrion 2019 01 4;44:58-64. Epub 2018 Jan 4.

Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, CO, USA; Inherited Metabolic Diseases Clinic, Children's Hospital Colorado, Aurora, CO, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mito.2018.01.001DOI Listing
January 2019

Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation.

Am J Hum Genet 2018 12 29;103(6):1030-1037. Epub 2018 Nov 29.

Human Genetics Program, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, CA 92037, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2018.10.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288200PMC
December 2018

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

Neurol Genet 2018 Aug 20;4(4):e248. Epub 2018 Jul 20.

Department of Molecular and Human Genetics (K.M., L.C.B., M.J., R.A.L., M.X., J.A.R., R.C., C.M.E., Y.Y., B.H.L., P.M.M., S.U.D.), Department of Neurology (J.J., D.V., P.M.M), and Department of Ophthalmology (R.A.L.), Baylor College of Medicine; Department of Pathology (G.N.F.), Department of Neuro-Oncology (M.P.-P.), and Department of Diagnostic Imaging (M.K.G.-M.), The University of Texas MD Anderson Cancer Center; Michael E. DeBakey VA Medical Center (P.M.M.); Baylor Genetics (C.M.E., Y.Y.); and Department of Medicine (S.U.D.), Baylor College of Medicine, Houston, TX.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000248DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6055357PMC
August 2018

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

Am J Hum Genet 2018 08;103(2):276-287

Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2018.07.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6080833PMC
August 2018

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

Am J Med Genet A 2017 Oct 16;173(10):2789-2794. Epub 2017 Aug 16.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38383DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5603416PMC
October 2017

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

Mol Genet Metab 2017 09 29;122(1-2):60-66. Epub 2017 Jun 29.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Molecular and Human Genetics, Texas Children's Hospital, Houston, TX, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2017.06.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5612879PMC
September 2017

Lung Transplantation for FLNA-Associated Progressive Lung Disease.

J Pediatr 2017 07 28;186:118-123.e6. Epub 2017 Apr 28.

Section of Pediatric Pulmonology, Department of Pediatrics, Baylor College of Medicine, Houston, TX. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2017.03.045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5534178PMC
July 2017

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

J Inherit Metab Dis 2016 09;39(5):757

Department of Molecular and Human Genetics, Medical Genetics Laboratory, Baylor College of Medicine, One Baylor Plaza, NAB2015, Houston, TX, 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-016-9944-yDOI Listing
September 2016

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

J Hum Genet 2016 Jul 17;61(7):669-72. Epub 2016 Mar 17.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/jhg201620
Publisher Site
http://dx.doi.org/10.1038/jhg.2016.20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4961564PMC
July 2016

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

J Pediatr 2016 Feb 18;169:208-13.e2. Epub 2015 Nov 18.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2015.10.045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4729603PMC
February 2016

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

J Inherit Metab Dis 2015 Nov 15;38(6):1029-39. Epub 2015 Apr 15.

Department of Molecular and Human Genetics, Medical Genetics Laboratory, Baylor College of Medicine, One Baylor Plaza, NAB2015, Houston, TX, 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-015-9843-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4626538PMC
November 2015

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

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

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA 77030.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgmr.2015.08.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4563870PMC
September 2015

Inherited Metabolic Disorders: Aspects of Chronic Nutrition Management.

Nutr Clin Pract 2015 Aug 16;30(4):502-10. Epub 2015 Jun 16.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1177/0884533615586201
Publisher Site
http://dx.doi.org/10.1177/0884533615586201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4515158PMC
August 2015

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

Mol Genet Metab 2014 Sep-Oct;113(1-2):131-5. Epub 2014 Jul 3.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2014.06.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4177960PMC
June 2015

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

Am J Med Genet A 2015 Jun 2;167(6):1309-14. Epub 2015 Apr 2.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36899DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4449285PMC
June 2015

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

Am J Hum Genet 2015 May;96(5):841-9

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2015.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570285PMC
May 2015

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

Hum Mol Genet 2014 Sep 20;23(R1):R1-8. Epub 2014 Mar 20.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA Howard Hughes Medical Institute, Houston, TX 77030, USA

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddu123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4170715PMC
September 2014

Lysinuric Protein Intolerance Presenting with Multiple Fractures.

Mol Genet Metab Rep 2014 ;1:176-183

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Suite R814, Houston, TX, 77030-3411, USA ; Howard Hughes Medical Institute, Houston, TX, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgmr.2014.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4235665PMC
January 2014

Pulmonary nodules in an immunocompetent child with cat scratch disease.

Pediatr Infect Dis J 2013 Dec;32(12):1390-2

From the Department of Pediatrics, Rainbow Babies and Children's Hospital, University Hospitals Case Medical Center, Cleveland, Ohio.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/INF.0000000000000069DOI Listing
December 2013

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

Am J Med Genet A 2013 Apr 26;161A(4):841-4. Epub 2013 Feb 26.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.35751
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.35751DOI Listing
April 2013

Early childhood presentation of Czech dysplasia.

Clin Dysmorphol 2013 Apr;22(2):76-80

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0b013e32835fff39DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3673284PMC
April 2013

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.

Am J Med Genet A 2012 Oct 17;158A(10):2557-63. Epub 2012 Aug 17.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35549DOI Listing
October 2012

High prevalence of overweight and obesity in females with phenylketonuria.

Mol Genet Metab 2012 Sep 16;107(1-2):43-8. Epub 2012 Jul 16.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2012.07.006DOI Listing
September 2012

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

Obesity (Silver Spring) 2011 May 30;19(5):917-24. Epub 2010 Sep 30.

Department of Genetics, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/oby.2010.214DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3749733PMC
May 2011

Analyzing complex traits with congenic strains.

Mamm Genome 2010 Jun 4;21(5-6):276-86. Epub 2010 Jun 4.

Department of Genetics, Case Western Reserve University School of Medicine, 10900 Euclid Avenue, Cleveland, OH 44106, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00335-010-9267-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3805105PMC
June 2010

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

Mamm Genome 2009 Feb 10;20(2):71-82. Epub 2009 Jan 10.

Department of Nutrition, Case Western Reserve University School of Medicine, Biomedical Research Building 925, 2109 Adelbert Road, Cleveland, OH 44106-4955, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00335-008-9165-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3831881PMC
February 2009

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

Proc Natl Acad Sci U S A 2008 Dec 9;105(50):19910-4. Epub 2008 Dec 9.

Department of Genetics and Case Comprehensive Cancer Center, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.0810388105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2604967PMC
December 2008

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

Physiol Genomics 2008 Sep 15;35(1):116-22. Epub 2008 Jul 15.

Department of Genetics, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106-4955, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1152/physiolgenomics.00033.2008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2536825PMC
September 2008

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

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

Division of Pediatric Endocrinology and Metabolism, Rainbow Babies and Children's Hospital, University Hospitals of Cleveland, 11100 Euclid Avenue, Cleveland, Ohio 44106, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/en.2006-0745DOI Listing
November 2006