LINDSAY BURRAGE to Female
This is a "connection" page, showing publications LINDSAY BURRAGE has written about Female.
Connection Strength
0.647
-
Prevalence of fibrosis in hepatic explants and biopsies from individuals with urea cycle disorders. Mol Genet Metab. 2025 Aug; 145(4):109175.
Score: 0.036
-
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Hum Genet. 2024 Mar; 143(3):279-291.
Score: 0.033
-
A novel, de novo intronic variant in POGZ causes White-Sutton syndrome. Am J Med Genet A. 2022 07; 188(7):2198-2203.
Score: 0.029
-
Application of lung volume reduction surgery for a child with filamin A (FLNA) mutations. Pediatr Pulmonol. 2022 01; 57(1):224-230.
Score: 0.028
-
Biomarkers for liver disease in urea cycle disorders. Mol Genet Metab. 2021 06; 133(2):148-156.
Score: 0.027
-
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. Am J Hum Genet. 2019 03 07; 104(3):422-438.
Score: 0.023
-
Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders. Genet Med. 2019 09; 21(9):1977-1986.
Score: 0.023
-
Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly. Eur J Med Genet. 2019 Jun; 62(6):103531.
Score: 0.023
-
Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy. Am J Med Genet A. 2017 Oct; 173(10):2789-2794.
Score: 0.021
-
Lung Transplantation for FLNA-Associated Progressive Lung Disease. J Pediatr. 2017 07; 186:118-123.e6.
Score: 0.021
-
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. Am J Hum Genet. 2015 Dec 03; 97(6):904-13.
Score: 0.019
-
Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma. J Pediatr. 2016 Feb; 169:208-13.e2.
Score: 0.019
-
Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency. Hum Mol Genet. 2015 Nov 15; 24(22):6417-27.
Score: 0.018
-
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.
Score: 0.017
-
Early childhood presentation of Czech dysplasia. Clin Dysmorphol. 2013 Apr; 22(2):76-80.
Score: 0.016
-
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; 158A(10):2557-63.
Score: 0.015
-
High prevalence of overweight and obesity in females with phenylketonuria. Mol Genet Metab. 2012 Sep; 107(1-2):43-8.
Score: 0.015
-
Genetic resistance to diet-induced obesity in chromosome substitution strains of mice. Mamm Genome. 2010 Apr; 21(3-4):115-29.
Score: 0.013
-
Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia. Brain. 2026 Jan 08; 149(1):252-261.
Score: 0.009
-
Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function. Elife. 2025 Aug 27; 13.
Score: 0.009
-
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders. EMBO Mol Med. 2025 Oct; 17(10):2562-2585.
Score: 0.009
-
Effective algorithm to differentiate NBS MCADD cases from carriers and non-carriers and an assessment of the utility of the second newborn screen for MCADD. Mol Genet Metab. 2025 Aug; 145(4):109183.
Score: 0.009
-
Integrative exome sequencing and machine learning identify MICB and interferon pathway genes as contributors to SSc risk. Ann Rheum Dis. 2025 Aug; 84(8):1363-1374.
Score: 0.009
-
Exploring the complexity of systemic sclerosis etiology by trio whole genome sequencing. Hum Mol Genet. 2024 09 19; 33(19):1643-1647.
Score: 0.009
-
Recessive loss-of-function variants in DPH1 identified as the molecular cause in a sibling pair previously diagnosed with Fine-Lubinsky syndrome. Am J Med Genet A. 2025 Jan; 197(1):e63845.
Score: 0.009
-
Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder. Pediatr Neurol. 2024 Nov; 160:45-53.
Score: 0.009
-
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing. Am J Hum Genet. 2024 05 02; 111(5):841-862.
Score: 0.008
-
Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain. Am J Med Genet A. 2022 12; 188(12):3516-3524.
Score: 0.007
-
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay. Am J Hum Genet. 2021 09 02; 108(9):1710-1724.
Score: 0.007
-
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity. Epilepsia. 2021 07; 62(7):e103-e109.
Score: 0.007
-
Heterozygous variants in SPTBN1 cause intellectual disability and autism. Am J Med Genet A. 2021 07; 185(7):2037-2045.
Score: 0.007
-
Nitric oxide modulates bone anabolism through regulation of osteoblast glycolysis and differentiation. J Clin Invest. 2021 03 01; 131(5).
Score: 0.007
-
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing. J Clin Invest. 2021 01 04; 131(1).
Score: 0.007
-
Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network. Mol Genet Genomic Med. 2020 10; 8(10):e1397.
Score: 0.006
-
Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome. J Exp Med. 2020 06 01; 217(6).
Score: 0.006
-
De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy. Am J Hum Genet. 2020 05 07; 106(5):717-725.
Score: 0.006
-
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. Am J Hum Genet. 2020 04 02; 106(4):570-583.
Score: 0.006
-
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders. Ann Neurol. 2019 07; 86(1):116-128.
Score: 0.006
-
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 02 28; 11(1):12.
Score: 0.006
-
Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum. Genet Med. 2019 07; 21(7):1652-1656.
Score: 0.006
-
Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation. Am J Hum Genet. 2018 12 06; 103(6):1030-1037.
Score: 0.006
-
Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension. Am J Hum Genet. 2018 08 02; 103(2):276-287.
Score: 0.006
-
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals. Genet Med. 2019 01; 21(1):233-242.
Score: 0.006
-
Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6. Mitochondrion. 2019 01; 44:58-64.
Score: 0.005
-
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Hum Mutat. 2017 10; 38(10):1365-1371.
Score: 0.005
-
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; 122(1-2):60-66.
Score: 0.005
-
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features. Am J Hum Genet. 2017 Apr 06; 100(4):676-688.
Score: 0.005
-
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Genome Med. 2016 11 01; 8(1):106.
Score: 0.005
-
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. Hum Mol Genet. 2016 08 15; 25(16):3446-3453.
Score: 0.005
-
Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency. J Hum Genet. 2016 Jul; 61(7):669-72.
Score: 0.005
-
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States. Mol Genet Metab. 2015 Nov; 116(3):139-45.
Score: 0.005
-
De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations. Orphanet J Rare Dis. 2015 Jun 14; 10:75.
Score: 0.005
-
Adult presentation of X-linked Conradi-H?nermann-Happle syndrome. Am J Med Genet A. 2015 Jun; 167(6):1309-14.
Score: 0.004
-
Pulmonary nodules in an immunocompetent child with cat scratch disease. Pediatr Infect Dis J. 2013 Dec; 32(12):1390-2.
Score: 0.004
-
The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol. 2014 Jan; 13(1):44-58.
Score: 0.004
-
Genetic factors for resistance to diet-induced obesity and associated metabolic traits on mouse chromosome 17. Mamm Genome. 2009 Feb; 20(2):71-82.
Score: 0.003
-
Resistance to diet-induced obesity in mice with a single substituted chromosome. Physiol Genomics. 2008 Sep 17; 35(1):116-22.
Score: 0.003
-
A quantitative trait locus on chromosome 6 regulates the onset of puberty in mice. Endocrinology. 2006 Nov; 147(11):5132-8.
Score: 0.002
-
Genetic dissection of complex traits with chromosome substitution strains of mice. Science. 2004 Apr 16; 304(5669):445-8.
Score: 0.002
-
Maternal folate polymorphisms and the etiology of human nondisjunction. Am J Hum Genet. 2001 Aug; 69(2):434-9.
Score: 0.002