BRENDAN LEE to Female
This is a "connection" page, showing publications BRENDAN LEE has written about Female.
Connection Strength
0.481
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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: 0.035
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De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies. Genet Med. 2025 Apr; 27(4):101369.
Score: 0.034
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The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERK/SOX9-dependent osteoprogenitor differentiation defect. J Clin Invest. 2024 Jun 17; 134(15).
Score: 0.032
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Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension. Am J Hum Genet. 2018 08 02; 103(2):276-287.
Score: 0.022
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MicroRNA miR-23a cluster promotes osteocyte differentiation by regulating TGF-? signalling in osteoblasts. Nat Commun. 2017 04 11; 8:15000.
Score: 0.020
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Fkbp10 Deletion in Osteoblasts Leads to Qualitative Defects in Bone. J Bone Miner Res. 2017 Jun; 32(6):1354-1367.
Score: 0.020
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Glutamine and hyperammonemic crises in patients with urea cycle disorders. Mol Genet Metab. 2016 Jan; 117(1):27-32.
Score: 0.018
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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
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The swaying mouse as a model of osteogenesis imperfecta caused by WNT1 mutations. Hum Mol Genet. 2014 Aug 01; 23(15):4035-42.
Score: 0.016
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Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene. J Bone Miner Res. 2013 Nov; 28(11):2333-7.
Score: 0.016
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Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation. J Bone Miner Res. 2013 Jul; 28(7):1523-30.
Score: 0.015
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Early childhood presentation of Czech dysplasia. Clin Dysmorphol. 2013 Apr; 22(2):76-80.
Score: 0.015
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Assessment of bone mineral status in children with Marfan syndrome. Am J Med Genet A. 2012 Sep; 158A(9):2221-4.
Score: 0.014
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The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. Hum Mutat. 2012 Nov; 33(11):1520-5.
Score: 0.014
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Decreased bone mineralization in children with Noonan syndrome: another consequence of dysregulated RAS MAPKinase pathway? Mol Genet Metab. 2012 Jun; 106(2):237-40.
Score: 0.014
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Early orthotopic liver transplantation in urea cycle defects: follow up of a developmental outcome study. Mol Genet Metab. 2010; 100 Suppl 1:S84-7.
Score: 0.012
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Heritability of plasma amino acid levels in different nutritional states. Mol Genet Metab. 2007 Feb; 90(2):217-20.
Score: 0.010
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C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder. Genet Med. 2025 Jul; 27(7):101429.
Score: 0.009
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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
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Heterozygous variants in SPTBN1 cause intellectual disability and autism. Am J Med Genet A. 2021 07; 185(7):2037-2045.
Score: 0.007
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Pregnancy in women with osteogenesis imperfecta: pregnancy characteristics, maternal, and neonatal outcomes. Am J Obstet Gynecol MFM. 2021 07; 3(4):100362.
Score: 0.006
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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
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Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study. Am J Med Genet A. 2020 04; 182(4):697-704.
Score: 0.006
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Using the Delphi method to identify clinicians' perceived importance of pediatric exome sequencing results. Genet Med. 2020 01; 22(1):69-76.
Score: 0.006
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Bmi1 Suppresses Adipogenesis in the Hematopoietic Stem Cell Niche. Stem Cell Reports. 2019 09 10; 13(3):545-558.
Score: 0.006
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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: 0.006
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Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders. Genet Med. 2019 09; 21(9):1977-1986.
Score: 0.006
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Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. Am J Hum Genet. 2019 01 03; 104(1):164-178.
Score: 0.006
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Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature. Am J Med Genet A. 2019 03; 179(3):475-479.
Score: 0.006
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Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. N Engl J Med. 2018 11 29; 379(22):2131-2139.
Score: 0.005
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Heterozygous WNT1 variant causing a variable bone phenotype. Am J Med Genet A. 2018 11; 176(11):2419-2424.
Score: 0.005
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De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features. Am J Hum Genet. 2018 07 05; 103(1):154-162.
Score: 0.005
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Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures". Am J Hum Genet. 2017 Nov 02; 101(5):815-823.
Score: 0.005
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An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation. Cold Spring Harb Mol Case Stud. 2017 03; 3(2):a000984.
Score: 0.005
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P3h3-null and Sc65-null Mice Phenocopy the Collagen Lysine Under-hydroxylation and Cross-linking Abnormality of Ehlers-Danlos Syndrome Type VIA. J Biol Chem. 2017 03 03; 292(9):3877-3887.
Score: 0.005
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Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails. J Hum Genet. 2017 Apr; 62(4):465-471.
Score: 0.005
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Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials. Mol Genet Metab. 2015 Sep-Oct; 116(1-2):29-34.
Score: 0.004
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Adult presentation of X-linked Conradi-H?nermann-Happle syndrome. Am J Med Genet A. 2015 Jun; 167(6):1309-14.
Score: 0.004
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Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis. J Clin Endocrinol Metab. 2014 Nov; 99(11):E2451-6.
Score: 0.004
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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: 0.004
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Excessive transforming growth factor-? signaling is a common mechanism in osteogenesis imperfecta. Nat Med. 2014 Jun; 20(6):670-5.
Score: 0.004
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The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol. 2014 Jan; 13(1):44-58.
Score: 0.004
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Vector sequences are not detected in tumor tissue from research subjects with ornithine transcarbamylase deficiency who previously received adenovirus gene transfer. Hum Gene Ther. 2013 Sep; 24(9):814-9.
Score: 0.004
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ADAMTS-7 forms a positive feedback loop with TNF-a in the pathogenesis of osteoarthritis. Ann Rheum Dis. 2014 Aug; 73(8):1575-84.
Score: 0.004
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A recurrent PDGFRB mutation causes familial infantile myofibromatosis. Am J Hum Genet. 2013 Jun 06; 92(6):996-1000.
Score: 0.004
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WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta. N Engl J Med. 2013 May 09; 368(19):1809-16.
Score: 0.004
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Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis. Hum Mol Genet. 2012 Nov 15; 21(22):4904-9.
Score: 0.004
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Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. Am J Hum Genet. 2012 Feb 10; 90(2):282-9.
Score: 0.003