CHAD SHAW to Humans
This is a "connection" page, showing publications CHAD SHAW has written about Humans.
Connection Strength
0.674
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The Causal Pivot: A structural approach to genetic heterogeneity and variant discovery in complex diseases. Am J Hum Genet. 2025 Sep 04; 112(9):2232-2246.
Score: 0.026
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Selection for or against escape from nonsense mediated decay is a novel signature for the detection of cancer genes. Cancer Genet. 2021 11; 258-259:80-84.
Score: 0.020
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A joint modeling approach for longitudinal microbiome data improves ability to detect microbiome associations with disease. PLoS Comput Biol. 2020 12; 16(12):e1008473.
Score: 0.019
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Bayesian modelling of high-throughput sequencing assays with malacoda. PLoS Comput Biol. 2020 07; 16(7):e1007504.
Score: 0.018
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Clinical bioinformatics: emergence of a new laboratory discipline. Expert Rev Mol Diagn. 2016 11; 16(11):1139-1141.
Score: 0.014
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Integrative Multi-omic Analysis of Human Platelet eQTLs Reveals Alternative Start Site in Mitofusin 2. Am J Hum Genet. 2016 05 05; 98(5):883-897.
Score: 0.014
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A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics. Genome Med. 2016 Feb 02; 8(1):13.
Score: 0.013
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Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics. Am J Hum Genet. 2014 Oct 02; 95(4):345-59.
Score: 0.012
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NetComm: a network analysis tool based on communicability. Bioinformatics. 2014 Dec 01; 30(23):3387-9.
Score: 0.012
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Gene sequence variability of the three surface proteins of human respiratory syncytial virus (HRSV) in Texas. PLoS One. 2014; 9(3):e90786.
Score: 0.012
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An efficient algorithm for accurate computation of the Dirichlet-multinomial log-likelihood function. Bioinformatics. 2014 Jun 01; 30(11):1547-54.
Score: 0.012
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Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy. PLoS Genet. 2013; 9(9):e1003797.
Score: 0.011
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The Hematopoietic Expression Viewer: expanding mobile apps as a scientific tool. Bioinformatics. 2012 Jul 15; 28(14):1941-2.
Score: 0.010
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Revealing the nervous system requirements of Alzheimer disease risk genes in Drosophila. Am J Hum Genet. 2025 Dec 04; 112(12):2870-2887.
Score: 0.007
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WNT4 deficiency impacts heart, diaphragm, and palate development: Insights from human genetics, machine learning, and mouse models. Dev Biol. 2026 Jan; 529:66-80.
Score: 0.006
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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: 0.006
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Detection of Clinically Relevant Monogenic Copy-Number Variants by a Comprehensive Genome-Wide Microarray with Exonic Coverage. Clin Chem. 2025 Jan 03; 71(1):141-154.
Score: 0.006
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The impact of clinical genome sequencing in a global population with suspected rare genetic disease. Am J Hum Genet. 2024 07 11; 111(7):1271-1281.
Score: 0.006
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Targeted accurate RNA consensus sequencing (tARC-seq) reveals mechanisms of replication error affecting SARS-CoV-2 divergence. Nat Microbiol. 2024 May; 9(5):1382-1392.
Score: 0.006
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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: 0.006
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Clinical genome sequencing: Three years' experience at a tertiary children's hospital. Genet Med. 2023 10; 25(10):100916.
Score: 0.006
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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: 0.005
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Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits. Genome Med. 2022 09 30; 14(1):113.
Score: 0.005
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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: 0.005
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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: 0.005
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Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions. Genet Med. 2020 11; 22(11):1768-1776.
Score: 0.005
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CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. Genet Med. 2020 10; 22(10):1633-1641.
Score: 0.005
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Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis. Am J Hum Genet. 2019 12 05; 105(6):1262-1273.
Score: 0.004
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Increased Moraxella and Streptococcus species abundance after severe bronchiolitis is associated with recurrent wheezing. J Allergy Clin Immunol. 2020 02; 145(2):518-527.e8.
Score: 0.004
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Targeting the Mevalonate Pathway to Overcome Acquired Anti-HER2 Treatment Resistance in Breast Cancer. Mol Cancer Res. 2019 11; 17(11):2318-2330.
Score: 0.004
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A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing. Genome Med. 2019 07 26; 11(1):48.
Score: 0.004
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Functionalization of CD36 cardiovascular disease and expression associated variants by interdisciplinary high throughput analysis. PLoS Genet. 2019 07; 15(7):e1008287.
Score: 0.004
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Reanalysis of Clinical Exome Sequencing Data. N Engl J Med. 2019 06 20; 380(25):2478-2480.
Score: 0.004
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Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases. Genome Med. 2019 05 17; 11(1):30.
Score: 0.004
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Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome. Genome Med. 2019 04 23; 11(1):25.
Score: 0.004
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Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2. Cell. 2019 03 07; 176(6):1310-1324.e10.
Score: 0.004
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Identification of the Regulatory Elements and Target Genes of Megakaryopoietic Transcription Factor MEF2C. Thromb Haemost. 2019 May; 119(5):716-725.
Score: 0.004
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Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med. 2019 03; 25(3):439-447.
Score: 0.004
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Reliable detection of subchromosomal deletions and duplications using cell-based noninvasive prenatal testing. Prenat Diagn. 2018 12; 38(13):1069-1078.
Score: 0.004
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Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med. 2019 03; 21(3):663-675.
Score: 0.004
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Effects of genetic variation in protease activated receptor 4 after an acute coronary syndrome: Analysis from the TRACER trial. Blood Cells Mol Dis. 2018 09; 72:37-43.
Score: 0.004
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Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles. Am J Hum Genet. 2018 08 02; 103(2):171-187.
Score: 0.004
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Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements. Genome Res. 2018 08; 28(8):1228-1242.
Score: 0.004
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Combinatorial inhibition of PTPN12-regulated receptors leads to a broadly effective therapeutic strategy in triple-negative breast cancer. Nat Med. 2018 05; 24(4):505-511.
Score: 0.004
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The association between anterior nares and nasopharyngeal microbiota in infants hospitalized for bronchiolitis. Microbiome. 2018 01 03; 6(1):2.
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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Sustained endocrine profiles of a girl with WAGR syndrome. BMC Med Genet. 2017 10 23; 18(1):117.
Score: 0.004
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Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med. 2017 09 21; 9(1):83.
Score: 0.004
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EMT cells increase breast cancer metastasis via paracrine GLI activation in neighbouring tumour cells. Nat Commun. 2017 06 12; 8:15773.
Score: 0.004
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HER2 Reactivation through Acquisition of the HER2 L755S Mutation as a Mechanism of Acquired Resistance to HER2-targeted Therapy in HER2+ Breast Cancer. Clin Cancer Res. 2017 Sep 01; 23(17):5123-5134.
Score: 0.004
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Sequence variability of the respiratory syncytial virus (RSV) fusion gene among contemporary and historical genotypes of RSV/A and RSV/B. PLoS One. 2017; 12(4):e0175792.
Score: 0.004
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Identification of a functional genetic variant driving racially dimorphic platelet gene expression of the thrombin receptor regulator, PCTP. Thromb Haemost. 2017 05 03; 117(5):962-970.
Score: 0.004
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Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res. 2017 02 28; 45(4):1633-1648.
Score: 0.004
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An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell. 2017 02 23; 168(5):830-842.e7.
Score: 0.004
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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2017 Feb 02; 100(2):352-363.
Score: 0.004
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A paradox of transcriptional and functional innate interferon responses of human intestinal enteroids to enteric virus infection. Proc Natl Acad Sci U S A. 2017 01 24; 114(4):E570-E579.
Score: 0.004
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Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects. Philos Trans R Soc Lond B Biol Sci. 2016 12 19; 371(1710).
Score: 0.004
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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017 01 05; 376(1):21-31.
Score: 0.004
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CELF1 is a central node in post-transcriptional regulatory programmes underlying EMT. Nat Commun. 2016 11 21; 7:13362.
Score: 0.004
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Genome-wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant women. Prenat Diagn. 2016 Dec; 36(12):1127-1134.
Score: 0.004
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Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics. Genome Med. 2016 11 01; 8(1):105.
Score: 0.004
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Association of nasopharyngeal microbiota profiles with bronchiolitis severity in infants hospitalised for bronchiolitis. Eur Respir J. 2016 11; 48(5):1329-1339.
Score: 0.003
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Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing. Prenat Diagn. 2016 Nov; 36(11):1009-1019.
Score: 0.003
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Comparison of three whole genome amplification methods for detection of genomic aberrations in single cells. Prenat Diagn. 2016 Sep; 36(9):823-30.
Score: 0.003
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De Novo Truncating Mutation of TRIM8 Causes Early-Onset Epileptic Encephalopathy. Ann Hum Genet. 2016 Jul; 80(4):235-40.
Score: 0.003
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Respiratory syncytial virus and rhinovirus severe bronchiolitis are associated with distinct nasopharyngeal microbiota. J Allergy Clin Immunol. 2016 06; 137(6):1909-1913.e4.
Score: 0.003
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Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses. Hum Mutat. 2016 Mar; 37(3):231-234.
Score: 0.003
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Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med. 2016 07; 18(7):678-85.
Score: 0.003
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Mutations in the transcriptional repressor REST predispose to Wilms tumor. Nat Genet. 2015 Dec; 47(12):1471-4.
Score: 0.003
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Anti-miR-148a regulates platelet Fc?RIIA signaling and decreases thrombosis in vivo in mice. Blood. 2015 Dec 24; 126(26):2871-81.
Score: 0.003
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Identifying diagnostically-relevant resting state brain functional connectivity in the ventral posterior complex via genetic data mining in autism spectrum disorder. Autism Res. 2016 05; 9(5):553-62.
Score: 0.003
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An essential role for Ga(i2) in Smoothened-stimulated epithelial cell proliferation in the mammary gland. Sci Signal. 2015 Sep 15; 8(394):ra92.
Score: 0.003
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The spliceosome is a therapeutic vulnerability in MYC-driven cancer. Nature. 2015 Sep 17; 525(7569):384-8.
Score: 0.003
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DNA REPAIR. Mus81 and converging forks limit the mutagenicity of replication fork breakage. Science. 2015 Aug 14; 349(6249):742-7.
Score: 0.003
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Host Transcriptional Response to Influenza and Other Acute Respiratory Viral Infections--A Prospective Cohort Study. PLoS Pathog. 2015 Jun; 11(6):e1004869.
Score: 0.003
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Genome-wide association study of platelet aggregation in African Americans. BMC Genet. 2015 May 30; 16:58.
Score: 0.003
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Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. Hum Mol Genet. 2015 Jul 15; 24(14):4061-77.
Score: 0.003
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Somatic mosaicism: implications for disease and transmission genetics. Trends Genet. 2015 Jul; 31(7):382-92.
Score: 0.003
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Absence of heterozygosity due to template switching during replicative rearrangements. Am J Hum Genet. 2015 Apr 02; 96(4):555-64.
Score: 0.003
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Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination. Nucleic Acids Res. 2015 Feb 27; 43(4):2188-98.
Score: 0.003
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Circulating and disseminated tumor cells from breast cancer patient-derived xenograft-bearing mice as a novel model to study metastasis. Breast Cancer Res. 2015 Jan 09; 17:3.
Score: 0.003
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The oncogenic STP axis promotes triple-negative breast cancer via degradation of the REST tumor suppressor. Cell Rep. 2014 Nov 20; 9(4):1318-32.
Score: 0.003
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Common variants in the human platelet PAR4 thrombin receptor alter platelet function and differ by race. Blood. 2014 Nov 27; 124(23):3450-8.
Score: 0.003
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Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination. BMC Biol. 2014 Sep 23; 12:74.
Score: 0.003
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Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders. Am J Hum Genet. 2014 Aug 07; 95(2):173-82.
Score: 0.003
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MicroRNA expression differences in human hematopoietic cell lineages enable regulated transgene expression. PLoS One. 2014; 9(7):e102259.
Score: 0.003
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CGG repeats in RNA modulate expression of TDP-43 in mouse and fly models of fragile X tremor ataxia syndrome. Hum Mol Genet. 2014 Nov 15; 23(22):5906-15.
Score: 0.003
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Pathway-centric integrative analysis identifies RRM2 as a prognostic marker in breast cancer associated with poor survival and tamoxifen resistance. Neoplasia. 2014 May; 16(5):390-402.
Score: 0.003
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Testicular sex cord-stromal tumor in a boy with 2q37 deletion syndrome. BMC Med Genomics. 2014 Apr 22; 7:19.
Score: 0.003
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The human platelet: strong transcriptome correlations among individuals associate weakly with the platelet proteome. Biol Direct. 2014 Feb 14; 9:3.
Score: 0.003
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Human platelet microRNA-mRNA networks associated with age and gender revealed by integrated plateletomics. Blood. 2014 Apr 17; 123(16):e37-45.
Score: 0.003
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Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases. Eur J Hum Genet. 2014 Aug; 22(8):969-78.
Score: 0.003
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Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability. J Appl Genet. 2014 Feb; 55(1):125-44.
Score: 0.003
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Racial differences in human platelet PAR4 reactivity reflect expression of PCTP and miR-376c. Nat Med. 2013 Dec; 19(12):1609-16.
Score: 0.003
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Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure. Am J Med Genet A. 2013 Oct; 161A(10):2487-94.
Score: 0.003
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Integrative genomic analysis of the human immune response to influenza vaccination. Elife. 2013 Jul 16; 2:e00299.
Score: 0.003
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Neuroendocrine phenotypes in a boy with 5q14 deletion syndrome implicate the regulatory roles of myocyte-specific enhancer factor 2C in the postnatal hypothalamus. Eur J Med Genet. 2013 Sep; 56(9):475-83.
Score: 0.003
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TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Am J Hum Genet. 2013 Aug 08; 93(2):197-210.
Score: 0.003
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A renewable tissue resource of phenotypically stable, biologically and ethnically diverse, patient-derived human breast cancer xenograft models. Cancer Res. 2013 Aug 01; 73(15):4885-97.
Score: 0.003
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RAS-MAPK-MSK1 pathway modulates ataxin 1 protein levels and toxicity in SCA1. Nature. 2013 Jun 20; 498(7454):325-331.
Score: 0.003
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Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing. Eur J Hum Genet. 2014 Jan; 22(1):79-87.
Score: 0.003
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Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles. Genome Res. 2013 Sep; 23(9):1383-94.
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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Confounding by repetitive elements and CpG islands does not explain the association between hypomethylation and genomic instability. PLoS Genet. 2013; 9(2):e1003333.
Score: 0.003
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Global gene expression profiling in infants with acute respiratory syncytial virus broncholitis demonstrates systemic activation of interferon signaling networks. Pediatr Infect Dis J. 2013 Feb; 32(2):e68-76.
Score: 0.003
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Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era? Genet Med. 2013 Jun; 15(6):450-7.
Score: 0.003
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Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders. Eur J Hum Genet. 2013 Jun; 21(6):620-5.
Score: 0.003
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Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities. Eur J Hum Genet. 2013 Feb; 21(2):173-81.
Score: 0.003
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Incidental copy-number variants identified by routine genome testing in a clinical population. Genet Med. 2013 Jan; 15(1):45-54.
Score: 0.003
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Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders. Am J Med Genet B Neuropsychiatr Genet. 2012 Oct; 159B(7):760-71.
Score: 0.003
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Assessment of the role of copy-number variants in 150 patients with congenital heart defects. Med Wieku Rozwoj. 2012 Jul-Sep; 16(3):175-82.
Score: 0.003
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Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome. PLoS Genet. 2012; 8(5):e1002692.
Score: 0.003
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A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. Proc Natl Acad Sci U S A. 2012 May 22; 109(21):7974-81.
Score: 0.003
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Human genome-wide association and mouse knockout approaches identify platelet supervillin as an inhibitor of thrombus formation under shear stress. Circulation. 2012 Jun 05; 125(22):2762-71.
Score: 0.003
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Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature. Prenat Diagn. 2012 Apr; 32(4):351-61.
Score: 0.003
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Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression. Hum Mol Genet. 2012 Jun 01; 21(11):2572-87.
Score: 0.003
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Detection of =1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays. Prenat Diagn. 2012 Jan; 32(1):10-20.
Score: 0.003
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A SUMOylation-dependent transcriptional subprogram is required for Myc-driven tumorigenesis. Science. 2012 Jan 20; 335(6066):348-53.
Score: 0.002
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High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy. BMC Med Genet. 2011 Nov 25; 12:154.
Score: 0.002
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Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Hum Mutat. 2012 Jan; 33(1):165-79.
Score: 0.002
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Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. Hum Mol Genet. 2011 Nov 15; 20(22):4360-70.
Score: 0.002
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Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron. 2011 Jun 09; 70(5):863-85.
Score: 0.002
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Protein interactome reveals converging molecular pathways among autism disorders. Sci Transl Med. 2011 Jun 08; 3(86):86ra49.
Score: 0.002
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Platelet microRNA-mRNA coexpression profiles correlate with platelet reactivity. Blood. 2011 May 12; 117(19):5189-97.
Score: 0.002
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Activation of multiple proto-oncogenic tyrosine kinases in breast cancer via loss of the PTPN12 phosphatase. Cell. 2011 Mar 04; 144(5):703-18.
Score: 0.002
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Early patterns of gene expression correlate with the humoral immune response to influenza vaccination in humans. J Infect Dis. 2011 Apr 01; 203(7):921-9.
Score: 0.002
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Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes. Genome Res. 2011 Jan; 21(1):33-46.
Score: 0.002
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Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems. Am J Hum Genet. 2010 Dec 10; 87(6):857-65.
Score: 0.002
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Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia. Hum Mol Genet. 2011 Feb 01; 20(3):510-27.
Score: 0.002
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Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat. 2010 Dec; 31(12):1326-42.
Score: 0.002
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Identification of de novo copy number variants associated with human disorders of sexual development. PLoS One. 2010 Oct 26; 5(10):e15392.
Score: 0.002
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Array comparative genomic hybridization detects chromosomal abnormalities in hematological cancers that are not detected by conventional cytogenetics. J Mol Diagn. 2010 Sep; 12(5):670-9.
Score: 0.002
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Proinflammatory role for let-7 microRNAS in experimental asthma. J Biol Chem. 2010 Sep 24; 285(39):30139-49.
Score: 0.002
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Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results. Am J Med Genet A. 2010 May; 152A(5):1111-26.
Score: 0.002
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Application of dual-genome oligonucleotide array-based comparative genomic hybridization to the molecular diagnosis of mitochondrial DNA deletion and depletion syndromes. Genet Med. 2009 Jul; 11(7):518-26.
Score: 0.002
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Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus. Hum Mol Genet. 2009 Jul 01; 18(13):2431-42.
Score: 0.002
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Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet. 2009 Jun 15; 18(12):2188-203.
Score: 0.002
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Microarray-based comparative genomic hybridization using sex-matched reference DNA provides greater sensitivity for detection of sex chromosome imbalances than array-comparative genomic hybridization with sex-mismatched reference DNA. J Mol Diagn. 2009 May; 11(3):226-37.
Score: 0.002
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Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases. Prenat Diagn. 2009 Jan; 29(1):29-39.
Score: 0.002
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Gene expression in Barrett's esophagus: laser capture versus whole tissue. Scand J Gastroenterol. 2009; 44(7):787-95.
Score: 0.002
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Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics. 2008 Dec; 122(6):1310-8.
Score: 0.002
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Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases. Am J Med Genet A. 2008 Sep 01; 146A(17):2242-51.
Score: 0.002
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Novel microRNA candidates and miRNA-mRNA pairs in embryonic stem (ES) cells. PLoS One. 2008 Jul 02; 3(7):e2548.
Score: 0.002
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Validation of a targeted DNA microarray for the clinical evaluation of recurrent abnormalities in chronic lymphocytic leukemia. Am J Hematol. 2008 Jul; 83(7):540-6.
Score: 0.002
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Low-level mosaicism of trisomy 14: phenotypic and molecular characterization. Am J Med Genet A. 2008 Jun 01; 146A(11):1395-405.
Score: 0.002
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Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses. Genet Med. 2008 Apr; 10(4):278-89.
Score: 0.002
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22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. Am J Hum Genet. 2008 Jan; 82(1):214-21.
Score: 0.002
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Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy. Am J Hum Genet. 2007 Sep; 81(3):438-53.
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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Aging hematopoietic stem cells decline in function and exhibit epigenetic dysregulation. PLoS Biol. 2007 Aug; 5(8):e201.
Score: 0.002
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Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation. Am J Med Genet A. 2007 Jun 15; 143A(12):1358-65.
Score: 0.002
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Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations. Eur J Hum Genet. 2007 Sep; 15(9):943-9.
Score: 0.002
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Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS One. 2007 Mar 28; 2(3):e327.
Score: 0.002
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Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet. 2007 Apr; 80(4):633-49.
Score: 0.002
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Retroviral vector insertion sites associated with dominant hematopoietic clones mark "stemness" pathways. Blood. 2007 Mar 01; 109(5):1897-907.
Score: 0.002
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Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization. Genet Med. 2006 Nov; 8(11):719-27.
Score: 0.002
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High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping. Genome Res. 2006 Sep; 16(9):1136-48.
Score: 0.002
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Is genomic evaluation feasible in endoscopic studies of Barrett's esophagus? A pilot study. Gastrointest Endosc. 2006 Jul; 64(1):17-26.
Score: 0.002
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Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations. Hum Genet. 2006 Sep; 120(2):227-37.
Score: 0.002
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Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease. Hum Mol Genet. 2006 Jul 15; 15(14):2250-65.
Score: 0.002
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Induction of the HIV-1 Tat co-factor cyclin T1 during monocyte differentiation is required for the regulated expression of a large portion of cellular mRNAs. Retrovirology. 2006 Jun 09; 3:32.
Score: 0.002
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A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. Cell. 2006 May 19; 125(4):801-14.
Score: 0.002
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Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements. Am J Med Genet A. 2005 Dec 01; 139A(2):106-13.
Score: 0.002
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Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. Hum Mol Genet. 2005 Dec 01; 14(23):3723-40.
Score: 0.002
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Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med. 2005 Jul-Aug; 7(6):422-32.
Score: 0.002
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Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure. Eur J Hum Genet. 2005 Feb; 13(2):139-49.
Score: 0.002
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Molecular signatures of proliferation and quiescence in hematopoietic stem cells. PLoS Biol. 2004 Oct; 2(10):e301.
Score: 0.002
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Small marker chromosomes in two patients with segmental aneusomy for proximal 17p. Hum Genet. 2004 Jun; 115(1):1-7.
Score: 0.001
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Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions. Hum Mol Genet. 2003 Sep 01; 12(17):2145-52.
Score: 0.001
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Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions. Hum Mol Genet. 2003 Sep 01; 12(17):2153-65.
Score: 0.001
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TagA, a putative serine protease/ABC transporter of Dictyostelium that is required for cell fate determination at the onset of development. Development. 2003 Jul; 130(13):2953-65.
Score: 0.001