Research Topics
Genomes and Genes
| David NgSummaryAffiliation: National Institutes of Health Country: USA Publications
| Collaborators
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Detail Information
Publications
Genomic characterization of esophageal squamous cell carcinoma from a high-risk population in ChinaNan Hu
Division of Cancer Epidemiology and Genetics, Center for Cancer Research, National Cancer Institute, NIH, Department of Health and Human Services, Bethesda, Maryland 20892 7236, USA
Cancer Res 69:5908-17. 2009..Our findings show the potential utility of combining CN analysis and gene expression data to identify genes involved in esophageal carcinogenesis...- Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromesTanya M Bardakjian
Clinical Genetics, Department of Pediatrics, Albert Einstein Medical Center, Philadelphia, PA, USA
BMC Med Genet 10:137. 2009..Townes-Brocks syndrome manifests thumb anomalies, imperforate anus, and ear anomalies. We present a 13-year-old boy with a syndromic microphthalmia phenotype and a clinical diagnosis of Lenz microphthalmia syndrome... - Replication of a genome-wide case-control study of esophageal squamous cell carcinomaDavid Ng
Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Boulevard, Rm 7112, Bethesda, MD 20892 7236, USA
Int J Cancer 123:1610-5. 2008.... - High-density mapping and follow-up studies on chromosomal regions 1, 3, 6, 12, 13 and 17 in 28 families with chronic lymphocytic leukaemiaDavid Ng
Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, DHHS, Bethesda, MD 20892 7236, USA
Br J Haematol 133:59-61. 2006..2, 3q22.1, 3q26.2, 6q22.31-q23.2, 12q24.23, 14q32.13, 17p13.3. Chromosome 13q21.33 remains a region of interest with a P-value of 0.013 (marker D13S1291) and warrants additional molecular investigation as a susceptibility region for CLL... - Retrospective family study of childhood medulloblastomaDavid Ng
Genetic Epidemiology Branch, DCEG, NCI, NIH, DHHS, Bethesda, Maryland, USA
Am J Med Genet A 134:399-403. 2005..We conclude that clinically recognizable syndromes are uncommon among patients with medulloblastoma, however, PTCH1 and SUFU mutations are present at a low but significant frequency... - Mutation screening of CHD5 in melanoma-prone families linked to 1p36 revealed no deleterious coding or splice site changesDavid Ng
Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, Maryland, USA
BMC Res Notes 1:86. 2008..Based on these findings, we felt it was important to screen CHD5 as a familial CMM/DN susceptibility gene... - Gonadal mosaicism in severe Pallister-Hall syndromeDavid Ng
Genetic Disease Research Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland 20892 4472, USA
Am J Med Genet A 124:296-302. 2004..Published 2003 Wiley-Liss, Inc... - Identification of a novel chromosome region, 13q21.33-q22.2, for susceptibility genes in familial chronic lymphocytic leukemiaDavid Ng
Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Rockville, MD 20892 7231, USA
Blood 109:916-25. 2007..In conclusion, we identified a novel candidate region that may predispose to familial CLL... - Designation of the TARP syndrome and linkage to Xp11.23-q13.3 without samples from affected patientsKyle T Kurpinski
Genetic Diseases Research Branch, National Human Genome Research Institute/NIH, Building 49 Room 4C72, Bethesda, MD 20892-4472, USA
Am J Med Genet A 120:1-4. 2003..We have designated this locus as TARP. This locus was mapped without genotyping any affecteds and demonstrates that rare, lethal disorders can be evaluated by genetic linkage, even when no affected probands are available for study... - Common genetic variants in candidate genes and risk of familial lymphoid malignanciesXueying Sharon Liang
Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892 7236, USA
Br J Haematol 146:418-23. 2009..Polymorphisms in TNFSF10 were associated with both CLL and WM. Future replication and functional studies are needed to clarify the role of these genetic variants. Finally, our data further support the close association of WM and CLL... - Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genesJennifer J Johnston
Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Am J Hum Genet 91:97-108. 2012.... - Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCORDavid Ng
Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
Nat Genet 36:411-6. 2004.... - T (brachyury) gene duplication confers major susceptibility to familial chordomaXiaohong R Yang
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA
Nat Genet 41:1176-8. 2009..Our findings highlight the value of screening for complex genomic rearrangements in searches for cancer-susceptibility genes... - Chronic lymphocytic leukaemia genetics overviewNeil Caporaso
Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA
Br J Haematol 139:630-4. 2007..In this summary we highlight selected themes in the genetics of CLL emphasizing the opportunities and challenges of this malignancy... - A mosaic activating mutation in AKT1 associated with the Proteus syndromeMarjorie J Lindhurst
National Human Genome Research Institute, Bethesda, Maryland, USA
N Engl J Med 365:611-9. 2011..The Proteus syndrome is characterized by the overgrowth of skin, connective tissue, brain, and other tissues. It has been hypothesized that the syndrome is caused by somatic mosaicism for a mutation that is lethal in the nonmosaic state... - Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomesMatthew G Rees
National Human Genome Research Institute, NIH, Bethesda, Maryland 20892, USA
J Clin Invest 122:205-17. 2012..In sum, this study utilizes computational, cell biological, and biochemical methods to present a model for interpreting the clinical significance of rare genetic variants in common disease... - Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistancePenelope P Feuillan
Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 4472, USA
J Clin Endocrinol Metab 96:E528-35. 2011..To study the pathophysiology of obesity in BBS, we compared patients with BBS and body mass index Z-score (BMI-Z)-matched controls... - Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?David Ng
Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, Maryland 20892 4472, USA
Am J Med Genet 110:308-14. 2002..In addition, it suggests that Lenz microphthalmia syndrome, previously thought to be a single disorder, may represent an amalgam of two distinct disorders... - No association of ARLTS1 polymorphisms and risk for familial chronic lymphocytic leukaemiaDavid Ng
Br J Haematol 137:173-5. 2007 - Combined C-11 methionine and F-18 FDG PET imaging in a case of neurosarcoidosisDavid Ng
Department of Internal Medicine, Kettering Medical Center, Dayton, Ohio 45429, USA
Clin Nucl Med 31:373-5. 2006..However, not all lesions that have increased uptake on C-11 MET or F-18 FDG PET are malignant. Granulomatous inflammatory diseases such as neurosarcoidosis should also be considered in the differential diagnosis...