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Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. Eur J Hum Genet. 2020 ;28(9):1243-1264.
. Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions. Genome Biol. 2021 ;22(1):109.
. Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. Nat Commun. 2016 ;7:10713.
. The genome sequence of Mannheimia haemolytica A1: insights into virulence, natural competence, and Pasteurellaceae phylogeny. J Bacteriol. 2006 ;188(20):7257-66.
. Paradoxical DNA repair and peroxide resistance gene conservation in Bacillus pumilus SAFR-032. PLoS One. 2007 ;2(9):e928.
. Transient alterations in the expression of protease and extracellular matrix genes during metastatic lung colonization by H-ras-transformed 10T1/2 fibroblasts. Cancer Res. 1990 ;50(13):4061-6.
. Differential regulation of normal and tumor alpha 1-fetoprotein genes in fetal hepatocyte x hepatoma hybrids. Cancer Res. 1988 ;48(22):6371-4.
. Comparison of cell adhesion molecule expression between glioblastoma multiforme and autologous normal brain tissue. J Neuroimmunol. 1995 ;57(1-2):143-53.
. Little expression of cytokine mRNA by fresh tumour-infiltrating mononuclear leukocytes from glioma and lung adenocarcinoma. Cytokine. 1995 ;7(6):580-8.
. Potential salmon sperm origin of the E3 region insert of the adenovirus 5 dl309 mutant. Cancer Gene Ther. 1996 ;3(3):151-4.
. Differential expression of multiple unexpected genes during U937 cell and macrophage differentiation detected by suppressive subtractive hybridization. Exp Hematol. 2000 ;28(1):65-76.
. CFFM4: a new member of the CD20/FcepsilonRIbeta family. Immunogenetics. 2001 ;53(6):468-76.
. TREM-1, MDL-1, and DAP12 expression is associated with a mature stage of myeloid development. Mol Immunol. 2002 ;38(11):817-24.
. Ampullary Cancers Harbor ELF3 Tumor Suppressor Gene Mutations and Exhibit Frequent WNT Dysregulation. Cell Rep. 2016 ;14(4):907-919.
. Sequencing of a central nervous system tumor demonstrates cancer transmission in an organ transplant. Life Sci Alliance. 2021 ;4(9).
. Targeted nanopore sequencing with Cas9-guided adapter ligation. Nat Biotechnol. 2020 ;38(4):433-438.
. CHRNA7 Deletions are Enriched in Risperidone-Treated Children and Adolescents. J Child Adolesc Psychopharmacol. 2017 ;27(10):908-915.
. A proposal to sequence the amphioxus genome submitted to the Joint Genome Institute of the US Department of Energy. J Exp Zool B Mol Dev Evol. 2003 ;300(1):5-22.
. The 1000 Genomes Project: paving the way for personalized genomic medicine. Per Med. 2013 ;10(4):321-324.
. Polymerase chain reaction techniques. Curr Opin Biotechnol. 1991 ;2(1):69-75.
. DNA amplification by the polymerase chain reaction. Anal Chem. 1990 ;62(13):1202-14.
. Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families. Genomics. 1990 ;7(2):235-44.
. Detection of single DNA base differences by competitive oligonucleotide priming. Nucleic Acids Res. 1989 ;17(7):2437-48.
. Molecular characterization of 125I decay and X-ray-induced HPRT mutants in CHO cells. Int J Radiat Biol Relat Stud Phys Chem Med. 1987 ;51(2):193-9.
. Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. Proc Natl Acad Sci U S A. 1989 ;86(6):1919-23.
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