Works by Chong, Samuel S.
Results: 69
Germline transgenesis of zebrafish using the medaka Tol1 transposon system.
- Published in:
- Developmental Dynamics, 2008, v. 237, n. 9, p. 2466, doi. 10.1002/dvdy.21688
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- Article
Genomic, cDNA, and embryonic expression analysis of zebrafish transforming growth factor beta 3 (tgf3).
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- Developmental Dynamics, 2005, v. 232, n. 4, p. 1021
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- Article
Architecture of population-differentiated polymorphisms in the human genome.
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- PLoS ONE, 2019, v. 14, n. 10, p. 1, doi. 10.1371/journal.pone.0224089
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- Article
Architecture of polymorphisms in the human genome reveals functionally important and positively selected variants in immune response and drug transporter genes.
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- Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0175-1
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- Article
Evidence that TGFA influences risk to cleft lip with/without cleft palate through unconventional genetic mechanisms.
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- Human Genetics, 2009, v. 126, n. 3, p. 385, doi. 10.1007/s00439-009-0680-3
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- Article
Clinical application of targeted long read sequencing in prenatal beta‐thalassemia testing and genetic counseling.
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- 2024
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- Case Study
Robust Preimplantation Genetic Testing of Huntington Disease by Combined Triplet-Primed PCR Analysis of the HTT CAG Repeat and Multi-Microsatellite Haplotyping.
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- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-52769-3
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- Article
Circulating microRNAs as Potential Diagnostic and Prognostic Biomarkers in Hepatocellular Carcinoma.
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- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-46872-8
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- Article
Robust and accurate detection and sizing of repeats within the DMPK gene using a novel TP-PCR test.
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- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-44588-3
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- Article
Dinucleotide repeats negatively modulate the promoter activity of Cyr61 and is unstable in hepatocellular carcinoma patients.
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- Oncogene, 2005, v. 24, n. 24, p. 3999, doi. 10.1038/sj.onc.1208550
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- Article
Identification of novel microsatellite markers <1 Mb from the HBB gene and development of a single-tube pentadecaplex PCR panel of highly polymorphic markers for preimplantation genetic diagnosis of beta-thalassemia.
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- Electrophoresis, 2015, v. 36, n. 23, p. 2914, doi. 10.1002/elps.201500146
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- Article
pfSNP: An integrated potentially functional SNP resource that facilitates hypotheses generation through knowledge syntheses.
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- Human Mutation, 2011, v. 32, n. 1, p. 19, doi. 10.1002/humu.21331
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- Article
Triplet‐Primed PCR Assays for Accurate Screening of FMR1 CGG Repeat Expansion and Genotype Verification.
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- Current Protocols, 2022, v. 2, n. 5, p. 1, doi. 10.1002/cpz1.427
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- Article
Robust Preimplantation Genetic Testing Strategy for Myotonic Dystrophy Type 1 by Bidirectional Triplet-Primed Polymerase Chain Reaction Combined With Multi-microsatellite Haplotyping Following Whole-Genome Amplification.
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- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00589
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- Article
A Single Common Assay for Robust and Rapid Fragile X Mental Retardation Syndrome Screening From Dried Blood Spots.
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- Frontiers in Genetics, 2018, p. N.PAG, doi. 10.3389/fgene.2018.00582
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- Article
Signatures of recent positive selection at the ATP-binding cassette drug transporter superfamily gene loci.
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- Human Molecular Genetics, 2007, v. 16, n. 11, p. 1367, doi. 10.1093/hmg/ddm087
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- Article
A functional polymorphism within the MRP1 gene locus identified through its genomic signature of positive selection.
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- Human Molecular Genetics, 2005, v. 14, n. 14, p. 2075, doi. 10.1093/hmg/ddi212
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- Article
Genomic evidence for recent positive selection at the human MDR1 gene locus.
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- Human Molecular Genetics, 2004, v. 13, n. 8, p. 783, doi. 10.1093/hmg/ddh099
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- Article
Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders.
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- Genes, 2016, v. 7, n. 10, p. 87, doi. 10.3390/genes7100087
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- Article
Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate.
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- Genetic Epidemiology, 2011, v. 35, n. 6, p. 469, doi. 10.1002/gepi.20595
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- Article
Differential parental transmission of markers in RUNX2 among cleft case-parent trios from four populations.
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- Genetic Epidemiology, 2008, v. 32, n. 6, p. 505, doi. 10.1002/gepi.20323
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- Article
A Patient with β-Thalassemia Intermedia Secondary to Homozygosity for a Polyadenylation Signal Mutation (AATA A A > AATA G A) ( HBB : C.*112A > G) on the β-Globin Gene.
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- Hemoglobin, 2016, v. 40, n. 5, p. 359, doi. 10.1080/03630269.2016.1237960
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- Article
Machine learning using genetic and clinical data identifies a signature that robustly predicts methotrexate response in rheumatoid arthritis.
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- Rheumatology, 2022, v. 61, n. 10, p. 4175, doi. 10.1093/rheumatology/keac032
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- Article
The FGF and FGFR Gene Family and Risk of Cleft Lip With or Without Cleft Palate.
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- Cleft Palate Craniofacial Journal, 2013, v. 50, n. 1, p. 96, doi. 10.1597/11-132
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- Article
FMR1 CGG Repeat Patterns and Flanking Haplotypes in Three Asian Populations and Their Relationship With Repeat Instability.
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- Annals of Human Genetics, 2006, v. 70, n. 6, p. 784, doi. 10.1111/j.1469-1809.2006.00265.x
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- Article
Cascade Screening for Fragile X Syndrome/CGG Repeat Expansions in Children Attending Special Education in Sri Lanka.
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- PLoS ONE, 2015, v. 10, n. 12, p. 1, doi. 10.1371/journal.pone.0145537
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- Article
Possible Gene-Gene Interaction of KIR2DL4 With its Cognate Ligand HLA-G in Modulating Risk for Preeclampsia.
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- Reproductive Sciences, 2009, v. 16, n. 12, p. 1135, doi. 10.1177/1933719109342280
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- Article
Phylogenetic and evolutionary relationships and developmental expression patterns of the zebrafish twist gene family.
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- Development Genes & Evolution, 2009, v. 219, n. 6, p. 289, doi. 10.1007/s00427-009-0290-z
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- Article
Zebrafish twist1 is expressed in craniofacial, vertebral, and renal precursors.
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- Development Genes & Evolution, 2007, v. 217, n. 11/12, p. 783, doi. 10.1007/s00427-007-0187-7
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- Article
Fetal polymorphisms at the ABCB1-transporter gene locus are associated with susceptibility to non-syndromic oral cleft malformations.
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- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1436, doi. 10.1038/ejhg.2013.25
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- Article
Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations.
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- European Journal of Human Genetics, 2010, v. 18, n. 6, p. 726, doi. 10.1038/ejhg.2009.228
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- Article
Maternal transmission effects of the PAX genes among cleft case–parent trios from four populations.
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- European Journal of Human Genetics, 2009, v. 17, n. 6, p. 831, doi. 10.1038/ejhg.2008.250
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- Article
Robust preimplantation genetic testing of the common F8 Inv22 pathogenic variant of severe hemophilia A using a highly polymorphic multi-marker panel encompassing the paracentric inversion.
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- Thrombosis Journal, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s12959-023-00552-w
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- Article
Nucleotide sequence analyses of the MRP1 gene in four populations suggest negative selection on its coding region.
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- BMC Genomics, 2006, v. 7, p. 1, doi. 10.1186/1471-2164-7-111
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- Article
Third-Generation Single-Molecule Sequencing for Preimplantation Genetic Testing of Aneuploidy and Segmental Imbalances.
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- Clinical Chemistry, 2023, v. 69, n. 8, p. 881, doi. 10.1093/clinchem/hvad062
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- Article
Single-Tube Screen for Rapid Detection of Repeat Expansions in Seven Common Spinocerebellar Ataxias.
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- Clinical Chemistry, 2022, v. 68, n. 6, p. 794, doi. 10.1093/clinchem/hvac011
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- Article
A Novel Indel in the Alpha Globin 2 (HBA2) Gene Resulting in False Positive -α<sup>3.7</sup> on Multiplex gap-PCR Assay.
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- Clinical Chemistry, 2021, v. 67, n. 9, p. 1284, doi. 10.1093/clinchem/hvab113
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- Article
Rapid and reliable preimplantation genetic diagnosis of common hemoglobin Bart's hydrops fetalis syndrome and hemoglobin H disease determinants using an enhanced single-tube decaplex polymerase chain reaction assay.
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- American Journal of Hematology, 2015, v. 90, n. 9, p. E194, doi. 10.1002/ajh.24077
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- Article
The −−<sup>THAI</sup> and −−<sup>FIL</sup> determinants of α thalassemia in Taiwan.
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- American Journal of Hematology, 1999, v. 60, n. 1, p. 80, doi. 10.1002/(SICI)1096-8652(199901)60:1<80::AID-AJH17>3.0.CO;2-W
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- Article
Interleukin-13 genetic polymorphisms in Singapore Chinese children correlate with long-term outcome of minimal-change disease.
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- Nephrology Dialysis Transplantation, 2005, v. 20, n. 4, p. 728, doi. 10.1093/ndt/gfh648
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- Article
Point Mutations and an Intragenic Deletion in LIS1, the Lissencephaly Causative Gene in Isolated Lissencephaly Sequence and Miller-Dieker Syndrome.
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- Human Molecular Genetics, 1997, v. 6, n. 2, p. 157, doi. 10.1093/hmg/6.2.157
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- Article
A Revision of the Lissencephaly and Miller-Dieker Syndrome Critical Regions in Chromosome 17p13.3.
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- Human Molecular Genetics, 1997, v. 6, n. 2, p. 147, doi. 10.1093/hmg/6.2.147
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- Article
Preimplantation prevention of X-linked disease: reliable and rapid sex determination of single human cells by restriction analysis of simultaneously amplified ZFX and ZFY sequences.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1187
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- Article
Paternal contribution of HLA-G*0106 significantly increases risk for pre-eclampsia in multigravid pregnancies.
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- Molecular Human Reproduction, 2008, v. 14, n. 5, p. 317, doi. 10.1093/molehr/gan013
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- Article
Evidence of differential selection for the −α<sup>3.7</sup> and −α<sup>4.2</sup> single-α-globin gene deletions within the same population.
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- European Journal of Haematology, 2013, v. 90, n. 3, p. 210, doi. 10.1111/ejh.12058
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- Article
Improved high sensitivity screen for Huntington disease using a one-step triplet-primed PCR and melting curve assay.
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- PLoS ONE, 2017, v. 12, n. 7, p. 1, doi. 10.1371/journal.pone.0180984
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- Article
Validation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR1 gene.
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- PLoS ONE, 2017, v. 12, n. 3, p. 1, doi. 10.1371/journal.pone.0173279
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- Article
Preimplantation Genetic Testing of Spinocerebellar Ataxia Type 3/Machado–Joseph Disease—Robust Tools for Direct and Indirect Detection of the ATXN3 (CAG) n Repeat Expansion.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 15, p. 8073, doi. 10.3390/ijms25158073
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- Article
Single-tube nonaplex microsatellite PCR panel for preimplantation genetic diagnosis of Hb Bart's hydrops fetalis syndrome.
- Published in:
- Prenatal Diagnosis, 2015, v. 35, n. 6, p. 534, doi. 10.1002/pd.4568
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- Article
Noninvasive prenatal exclusion of haemoglobin Bart's using foetal DNA from maternal plasma.
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- Prenatal Diagnosis, 2010, v. 30, n. 1, p. 65, doi. 10.1002/pd.2413
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- Article