DARYL SCOTT to Child
This is a "connection" page, showing publications DARYL SCOTT has written about Child.
Connection Strength
0.386
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Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+). Eur J Hum Genet. 2025 Dec; 33(12):1606-1615.
Score: 0.056
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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: 0.053
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The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia. Hum Mol Genet. 2018 06 15; 27(12):2064-2075.
Score: 0.034
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Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability. PLoS One. 2017; 12(4):e0175962.
Score: 0.032
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Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO. J Med Genet. 2017 01; 54(1):47-53.
Score: 0.030
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Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice. Hum Mol Genet. 2013 Mar 01; 22(5):1026-38.
Score: 0.023
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Deletions of Xp provide evidence for the role of holocytochrome C-type synthase (HCCS) in congenital diaphragmatic hernia. Am J Med Genet A. 2010 Jun; 152A(6):1588-90.
Score: 0.020
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Fine-Lubinsky syndrome: sibling pair suggests possible autosomal recessive inheritance. Am J Med Genet A. 2007 Nov 01; 143A(21):2576-80.
Score: 0.016
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Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension. JCI Insight. 2024 May 08; 9(9).
Score: 0.013
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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: 0.011
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The frequency and efficacy of genetic testing in individuals with scimitar syndrome. Cardiol Young. 2022 Apr; 32(4):550-557.
Score: 0.011
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A Comprehensive Assessment of Co-occurring Birth Defects among Infants with Non-Syndromic Anophthalmia or Microphthalmia. Ophthalmic Epidemiol. 2021 10; 28(5):428-435.
Score: 0.010
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BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. Am J Hum Genet. 2020 12 03; 107(6):1096-1112.
Score: 0.010
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Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease. Am J Med Genet A. 2019 12; 179(12):2459-2468.
Score: 0.009
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Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN. Blood. 2018 08 09; 132(6):658-662.
Score: 0.009
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Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. Genet Med. 2017 04; 19(4):412-420.
Score: 0.008
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De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. Am J Hum Genet. 2016 09 01; 99(3):720-727.
Score: 0.008
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Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant. Mol Genet Metab. 2016 09; 119(1-2):68-74.
Score: 0.008
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De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions. Am J Hum Genet. 2016 May 05; 98(5):963-970.
Score: 0.007
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Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization. Hum Genet. 2012 Dec; 131(12):1895-910.
Score: 0.006
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Phenotypic manifestations of copy number variation in chromosome 16p13.11. Eur J Hum Genet. 2011 Mar; 19(3):280-6.
Score: 0.005
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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet. 2010 May; 47(5):332-41.
Score: 0.005
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Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome. Am J Med Genet A. 2007 May 15; 143A(10):1071-81.
Score: 0.004