Genomics

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  Publication Venue For

  • Comparative genomic analyses of multi-drug resistant Mycobacterium tuberculosis from Nepal and other geographical locations..  114:110278. 2022
  • A computational analysis of antisense off-targets in prokaryotic organisms..  105:123-130. 2015
  • Annotating nonspecific SAGE tags with microarray data..  87:173-180. 2006
  • A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region..  83:1046-1052. 2004
  • LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein..  83:254-261. 2004
  • Chromosomal distribution of the human cardiovascular transcriptome..  81:519-524. 2003
  • Distribution of new human beta-defensin genes clustered on chromosome 20 in functionally different segments of epididymis..  81:175-183. 2003
  • Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins..  80:129-134. 2002
  • The identification of the inhibitory gamma-subunits of the type 6 retinal cyclic guanosine monophosphate phosphodiesterase in non-retinal tissues: differential processing of mRNA transcripts..  79:582-586. 2002
  • Insertional mutagenesis of the mouse acid ceramidase gene leads to early embryonic lethality in homozygotes and progressive lipid storage disease in heterozygotes..  79:218-224. 2002
  • Migraine with aura susceptibility locus on chromosome 19p13 is distinct from the familial hemiplegic migraine locus..  78:150-154. 2001
  • Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families..  77:105-113. 2001
  • The neuronatin gene resides in a "micro-imprinted" domain on human chromosome 20q11.2..  77:99-104. 2001
  • Comparative physical and transcript maps of approximately 1 Mb around loop-tail, a gene for severe neural tube defects on distal mouse chromosome 1 and human chromosome 1q22-q23..  72:180-192. 2001
  • Identification of a CD20-, FcepsilonRIbeta-, and HTm4-related gene family: sixteen new MS4A family members expressed in human and mouse..  72:119-127. 2001
  • Molecular cloning of a novel member of the GLUT family of transporters, SLC2a10 (GLUT10), localized on chromosome 20q13.1: a candidate gene for NIDDM susceptibility..  72:113-117. 2001
  • An integrated physical map of 8q22-q24: use in positional cloning and deletion analysis of Langer-Giedion syndrome..  71:192-199. 2001
  • Computational and experimental analyses reveal previously undetected coding exons of the KRIT1 (CCM1) gene..  71:123-126. 2001
  • Imprinting of PEG3, the human homologue of a mouse gene involved in nurturing behavior..  71:110-117. 2001
  • A novel androgen-regulated gene, PMEPA1, located on chromosome 20q13 exhibits high level expression in prostate..  66:257-263. 2000
  • A 6-Mb high-resolution physical and transcription map encompassing the hereditary prostate cancer 1 (HPC1) region..  64:1-14. 2000
  • Analysis of association at single nucleotide polymorphisms in the APOE region..  63:7-12. 2000
  • Autistic disorder and chromosome 15q11-q13: construction and analysis of a BAC/PAC contig..  62:325-331. 1999
  • Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15..  62:344-349. 1999
  • Genetic studies of autistic disorder and chromosome 7..  61:227-236. 1999
  • Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity..  58:113-120. 1999
  • Cytogenetic assignment and physical mapping of the human DGKE gene to chromosome 17q22..  56:233-235. 1999
  • CHST1 and CHST2 sulfotransferases expressed by human vascular endothelial cells: cDNA cloning, expression, and chromosomal localization..  55:345-347. 1999
  • Use of a CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval on 5q31..  54:250-255. 1998
  • The human extraocular muscle myosin heavy chain gene (MYH13) maps to the cluster of fast and developmental myosin genes on chromosome 17..  54:188-189. 1998
  • The molecular basis of disease variability among cystic fibrosis patients carrying the 3849+10 kb C-->T mutation..  53:276-283. 1998
  • A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q..  49:321-326. 1998
  • Human GFRA1: cloning, mapping, genomic structure, and evaluation as a candidate gene for Hirschsprung disease susceptibility..  48:354-362. 1998
  • Identification and characterization of K12 (SECTM1), a novel human gene that encodes a Golgi-associated protein with transmembrane and secreted isoforms..  47:327-340. 1998
  • Molecular characterization and localization of the human MAFG gene..  44:147-149. 1997
  • Genomic structure and chromosomal localization of the novel ETS factor, PE-2 (ERF)..  42:227-235. 1997
  • Structure of the human gene (COX6A2) for the heart/muscle isoform of cytochrome c oxidase subunit VIa and its chromosomal location in humans, mice, and cattle..  42:146-151. 1997
  • Mapping individual cosmid DNAs by direct AFM imaging..  41:379-384. 1997
  • Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5' flanking region..  38:155-165. 1996
  • Assignment of human protein phosphatase 2A regulatory subunit genes b56alpha, b56beta, b56gamma, b56delta, and b56epsilon (PPP2R5A-PPP2R5E), highly expressed in muscle and brain, to chromosome regions 1q41, 11q12, 3p21, 6p21.1, and 7p11.2 --> p12..  36:168-170. 1996
  • Cosmids map two incontinentia pigmenti type 1 (IP1) translocation breakpoints to a 180-kb region within a 1.2-Mb YAC contig..  35:338-345. 1996
  • Direct cloning of DNA sequences from the common fragile site region at chromosome band 3p14.2..  35:109-117. 1996
  • The chromosomal mapping of four genes encoding winged helix proteins expressed early in mouse development..  34:241-245. 1996
  • No genetic effect of alpha1-antichymotrypsin in Alzheimer disease..  33:53-56. 1996
  • Refined mapping and YAC contig construction of the X-linked cleft palate and ankyloglossia locus (CPX) including the proximal X-Y homology breakpoint within Xq21.3..  31:36-43. 1996
  • Chromosomal localization of the mouse Src-like adapter protein (Slap) gene and its putative human homolog SLA..  30:623-625. 1995
  • Linkage mapping of the angiotensin AT2 receptor gene (Agtr2) to the mouse X chromosome..  30:369-371. 1995
  • Assignment of the human beta-adducin gene (ADD2) to 2p13-p14 by in situ hybridization..  28:610-612. 1995
  • A locus for cerebral cavernous malformations maps to chromosome 7q in two families..  28:311-314. 1995
  • Assignment of human transforming growth factor-beta type I and type III receptor genes (TGFBR1 and TGFBR3) to 9q33-q34 and 1p32-p33, respectively..  28:356-357. 1995
  • Physical and genetic mapping of the CMT4A locus and exclusion of PMP-2 as the defect in CMT4A..  28:286-290. 1995
  • Chromosomal localization of the ankyrinG gene (ANK3/Ank3) to human 10q21 and mouse 10..  27:189-191. 1995
  • COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos Syndrome type II..  25:737-739. 1995
  • A high-resolution integrated physical, cytogenetic, and genetic map of human chromosome 11: distal p13 to proximal p15.1..  25:447-461. 1995
  • Assignment of the zeta-crystallin gene (CRYZ) to human chromosome 1p22-p31 and identification of restriction fragment length polymorphisms..  23:403-407. 1994
  • Localization of the VHR phosphatase gene and its analysis as a candidate for BRCA1..  23:163-167. 1994
  • A physical map across chromosome 11q22-q23 containing the major locus for ataxia telangiectasia..  21:612-619. 1994
  • An integrated physical map of 210 markers assigned to the short arm of human chromosome 11..  21:538-550. 1994
  • Organization of the human zeta-crystallin/quinone reductase gene (CRYZ)..  21:317-324. 1994
  • An investigation of genetic heterogeneity and linkage disequilibrium in 161 families with spinal muscular atrophy..  21:27-33. 1994
  • Nucleotide sequences of the RNA subunit of RNase P from several mammals..  18:418-422. 1993
  • Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity..  17:370-375. 1993
  • Nucleotide sequence, expression, and chromosomal mapping of Mrp and mapping of five related sequences..  17:194-204. 1993
  • The loss of a polymorphic glycosylation site caused by Thr-927-->Ile is linked to a second polymorphic Val-816-->Ile substitution in lysosomal alpha-glucosidase of American blacks..  16:300-301. 1993
  • Mapping of the mouse Rxr loci encoding nuclear retinoid X receptors RXR alpha, RXR beta, and RXR gamma..  14:611-617. 1992
  • The gene for a novel epidermal antigen maps near the neurofibromatosis 1 gene..  14:369-376. 1992
  • Assignment of the human glycogen debrancher gene to chromosome 1p21..  13:931-934. 1992
  • NF1-related locus on chromosome 15..  13:1316-1318. 1992
  • A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis gene..  13:672-680. 1992
  • North Carolina macular dystrophy is assigned to chromosome 6..  13:681-685. 1992
  • The generation of ordered sets of cosmid DNA clones from human chromosome region 11p..  13:89-94. 1992
  • Assignment of the beta-subunit of rod photoreceptor cGMP phosphodiesterase gene PDEB (homolog of the mouse rd gene) to human chromosome 4p16..  12:601-603. 1992
  • cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product..  11:931-940. 1991
  • North Carolina macular dystrophy: exclusion map using RFLPs and microsatellites..  11:763-766. 1991
  • Genomic organization of adrenergic and serotonin receptors in the mouse: linkage mapping of sequence-related genes provides a method for examining mammalian chromosome evolution..  10:338-344. 1991
  • Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2..  9:623-628. 1991
  • cDNA sequence and genomic structure of EV12B, a gene lying within an intron of the neurofibromatosis type 1 gene..  9:446-460. 1991
  • Support of linkage of Gerstmann-Sträussler-Scheinker syndrome to the prion protein gene on chromosome 20p12-pter..  9:366-368. 1991
  • The human glycine receptor: a new probe that is linked to the X-linked hypophosphatemic rickets gene..  7:439-441. 1990
  • Location of the gene involving the small eye mutation on mouse chromosome 2 suggests homology with human aniridia 2 (AN2)..  7:270-275. 1990
  • The HOX-5 and surfeit gene clusters are linked in the proximal portion of mouse chromosome 2..  6:645-650. 1990
  • Chromosomal localization of seven members of the murine TGF-beta superfamily suggests close linkage to several morphogenetic mutant loci..  6:505-520. 1990
  • Confirmation of linkage in von Hippel-Lindau disease..  6:565-567. 1990
  • Direct sequencing of the activation peptide and the catalytic domain of the factor IX gene in six species..  6:133-143. 1990
  • Localization of the mouse gene for secreted phosphoprotein 1 (Spp-1) (2ar, osteopontin, bone sialoprotein 1, 44-kDa bone phosphoprotein, tumor-secreted phosphoprotein) to chromosome 5, closely linked to Ric (Rickettsia resistance)..  5:375-377. 1989
  • Nucleotide sequence and expression of the human skeletal alpha-actin gene: evolution of functional regulatory domains..  3:323-336. 1988
  • The poliovirus sensitivity (PVS) gene is on chromosome 19q12----q13.2..  3:156-160. 1988
  • D10S20, a previously unmapped RFLP (OS-3), is located on 10q near D10S4.  3:78-81. 1988
  • Molecular analysis of the cDNA for human SPARC/osteonectin/BM-40: sequence, expression, and localization of the gene to chromosome 5q31-q33..  2:37-47. 1988
  • Genetic linkage studies of chromosome 17 RFLPs in von Recklinghausen neurofibromatosis (NF1)..  1:349-352. 1987
  • Linkage analysis in von Recklinghausen neurofibromatosis (NF1) with DNA markers for chromosome 17..  1:346-348. 1987
  • Erratum: The identification of the inhibitory γ-subunits of the type 6 retinal cyclic guanosine monophosphate phosphodiesterase in non-retinal tissues: Differential processing of mRNA transcripts (Genomics (2002) 79 (582-586)).  83:346. 2004
  • Erratum: A novel androgen-regulated gene, PMEPA1, located on chromosome 20q13 exhibits high level expression in prostate (Genomics (2000) 66:3 (257-263)).  70:407. 2000