DARYL SCOTT to Humans
This is a "connection" page, showing publications DARYL SCOTT has written about Humans.
Connection Strength
0.598
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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: 0.026
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MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability. Am J Med Genet A. 2025 Jan; 197(1):e63868.
Score: 0.024
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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: 0.024
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High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma. Invest Ophthalmol Vis Sci. 2024 Mar 05; 65(3):25.
Score: 0.023
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Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants. Am J Med Genet A. 2024 03; 194(3):e63445.
Score: 0.022
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High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations. Eur J Hum Genet. 2023 03; 31(3):296-303.
Score: 0.021
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Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus. Am J Med Genet A. 2022 12; 188(12):3492-3504.
Score: 0.021
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Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia. Am J Med Genet A. 2022 09; 188(9):2718-2723.
Score: 0.021
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Evidence-Based Genetic Testing for Individuals with Congenital Diaphragmatic Hernia. J Pediatr. 2022 09; 248:13-14.
Score: 0.020
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Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency. Hum Mutat. 2022 04; 43(4):461-470.
Score: 0.020
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Underlying genetic etiologies of congenital diaphragmatic hernia. Prenat Diagn. 2022 Mar; 42(3):373-386.
Score: 0.020
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RERE deficiency contributes to the development of orofacial clefts in humans and mice. Hum Mol Genet. 2021 05 12; 30(7):595-602.
Score: 0.019
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Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH. J Med Genet. 2022 03; 59(3):270-278.
Score: 0.019
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Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes. Am J Med Genet A. 2020 08; 182(8):1960-1966.
Score: 0.018
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Review of the phenotypic spectrum associated with haploinsufficiency of MYRF. Am J Med Genet A. 2019 07; 179(7):1376-1382.
Score: 0.016
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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: 0.015
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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: 0.014
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Chromosome 5q33 deletions associated with congenital heart defects. Am J Med Genet A. 2016 12; 170(12):3338-3342.
Score: 0.014
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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: 0.014
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Duplication of HEY2 in cardiac and neurologic development. Am J Med Genet A. 2015 Sep; 167A(9):2145-9.
Score: 0.012
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FBN1 contributing to familial congenital diaphragmatic hernia. Am J Med Genet A. 2015 Apr; 167A(4):831-6.
Score: 0.012
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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: 0.011
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Delineation of a less than 200 kb minimal deleted region for cardiac malformations on chromosome 7p22. Am J Med Genet A. 2011 Jul; 155A(7):1729-34.
Score: 0.010
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Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia. J Med Genet. 2011 May; 48(5):299-307.
Score: 0.009
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Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond--Blackfan anaemia. J Med Genet. 2010 Nov; 47(11):777-81.
Score: 0.009
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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: 0.009
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Delineation of a 1.65 Mb critical region for hemihyperplasia and digital anomalies on Xq25. Am J Med Genet A. 2010 Feb; 152A(2):453-8.
Score: 0.009
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A 1q42 deletion involving DISC1, DISC2, and TSNAX in an autism spectrum disorder. Am J Med Genet A. 2009 Aug; 149A(8):1758-62.
Score: 0.008
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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: 0.007
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Genetics of congenital diaphragmatic hernia. Semin Pediatr Surg. 2007 May; 16(2):88-93.
Score: 0.007
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Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia. Hum Mol Genet. 2007 Feb 15; 16(4):424-30.
Score: 0.007
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A Rare Molecular Diagnosis in a Patient With Hepatocerebral Syndrome Contributes to the Expansion of the Phenotypic Spectrum of POLG2 -Related Mitochondrial Disorder. Am J Med Genet A. 2025 Nov; 197(11):e64177.
Score: 0.006
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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: 0.006
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Early initiation of B-vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the TANGO2 natural history study. Am J Med Genet A. 2023 09; 191(9):2433-2439.
Score: 0.006
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Patterns of co-occurring birth defects in children with anotia and microtia. Am J Med Genet A. 2023 03; 191(3):805-812.
Score: 0.005
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Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies. Genet Med. 2022 02; 24(2):364-373.
Score: 0.005
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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: 0.005
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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: 0.005
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Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans. Am J Med Genet A. 2021 03; 185(3):836-840.
Score: 0.005
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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: 0.005
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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: 0.005
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Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension. Am J Med Genet A. 2020 04; 182(4):755-761.
Score: 0.004
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Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO. Am J Med Genet A. 2020 04; 182(4):652-658.
Score: 0.004
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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: 0.004
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Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway. Am J Hum Genet. 2019 02 07; 104(2):213-228.
Score: 0.004
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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: 0.004
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Genotype-phenotype correlations in individuals with pathogenic RERE variants. Hum Mutat. 2018 05; 39(5):666-675.
Score: 0.004
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Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017 12 04; 171(12):e173438.
Score: 0.004
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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: 0.003
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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: 0.003
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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: 0.003
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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: 0.003
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Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36. PLoS One. 2014; 9(1):e85600.
Score: 0.003
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NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. Genome Res. 2013 Sep; 23(9):1395-409.
Score: 0.003
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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: 0.003
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Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1. Hum Mol Genet. 2012 Sep 15; 21(18):4115-25.
Score: 0.003
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Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association. Am J Med Genet A. 2012 Jul; 158A(7):1785-7.
Score: 0.003
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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: 0.002
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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: 0.002
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Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia. Am J Med Genet A. 2009 Aug; 149A(8):1661-77.
Score: 0.002
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Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet A. 2007 Aug 01; 143A(15):1679-86.
Score: 0.002
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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: 0.002