BRENDAN LEE to Phenotype
This is a "connection" page, showing publications BRENDAN LEE has written about Phenotype.
Connection Strength
0.757
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Genotype-phenotype correlation--promiscuity in the era of next-generation sequencing. N Engl J Med. 2014 Aug 14; 371(7):593-6.
Score: 0.220
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Tendon and motor phenotypes in the Crtap-/- mouse model of recessive osteogenesis imperfecta. Elife. 2021 05 26; 10.
Score: 0.088
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Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies. Am J Med Genet A. 2017 Mar; 173(3):733-739.
Score: 0.064
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Restoration of the serum level of SERPINF1 does not correct the bone phenotype in Serpinf1 null mice. Mol Genet Metab. 2016 Mar; 117(3):378-82.
Score: 0.060
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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: 0.053
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The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol. 2014 Jan; 13(1):44-58.
Score: 0.052
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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: 0.029
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4-PBA Treatment Improves Bone Phenotypes in the Aga2 Mouse Model of Osteogenesis Imperfecta. J Bone Miner Res. 2022 04; 37(4):675-686.
Score: 0.023
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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: 0.022
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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: 0.020
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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: 0.019
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Heterozygous WNT1 variant causing a variable bone phenotype. Am J Med Genet A. 2018 11; 176(11):2419-2424.
Score: 0.018
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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: 0.018
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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: 0.017
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Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies. Am J Hum Genet. 2015 May 07; 96(5):816-25.
Score: 0.014
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Post-translationally abnormal collagens of prolyl 3-hydroxylase-2 null mice offer a pathobiological mechanism for the high myopia linked to human LEPREL1 mutations. J Biol Chem. 2015 Mar 27; 290(13):8613-22.
Score: 0.014
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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: 0.014
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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: 0.011