PubRank

S W Scherer

Author PubWeight™ 167.38‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas. Nat Genet 1997 6.83
2 Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nat Genet 1996 5.70
3 A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Nat Genet 2001 4.58
4 MADR2 maps to 18q21 and encodes a TGFbeta-regulated MAD-related protein that is functionally mutated in colorectal carcinoma. Cell 1996 4.13
5 Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome. Cytogenet Genome Res 2006 3.68
6 A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet 2001 3.59
7 Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nat Genet 1996 3.50
8 Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. Cell 1997 3.42
9 Comparative analysis of the gene-dense ACHE/TFR2 region on human chromosome 7q22 with the orthologous region on mouse chromosome 5. Nucleic Acids Res 2001 2.89
10 Structure and chromosomal localization of the human constitutive endothelial nitric oxide synthase gene. J Biol Chem 1993 2.69
11 Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia. Nat Genet 2001 2.55
12 Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. Nat Genet 1998 2.51
13 Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nat Genet 2000 2.38
14 Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development. Hum Mol Genet 1996 2.29
15 EBV transformation and cell culturing destabilizes DNA methylation in human lymphoblastoid cell lines. Genomics 2009 2.26
16 Molecular characterization of a common fragile site (FRA7H) on human chromosome 7 by the cloning of a simian virus 40 integration site. Proc Natl Acad Sci U S A 1998 2.16
17 Molecular cloning of the human gene, PNKP, encoding a polynucleotide kinase 3'-phosphatase and evidence for its role in repair of DNA strand breaks caused by oxidative damage. J Biol Chem 1999 2.15
18 Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria. Proc Natl Acad Sci U S A 1998 1.93
19 Colorectal carcinomas in mice lacking the catalytic subunit of PI(3)Kgamma. Nature 2000 1.93
20 The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. Nat Genet 1999 1.87
21 Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy. Neurology 2000 1.73
22 Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody disease. Genomics 1997 1.70
23 Molecular analysis of the PDS gene in Pendred syndrome. Hum Mol Genet 1998 1.58
24 Expression analysis of six paralogous human hyaluronidase genes clustered on chromosomes 3p21 and 7q31. Genomics 1999 1.56
25 p200 ARF-GEP1: a Golgi-localized guanine nucleotide exchange protein whose Sec7 domain is targeted by the drug brefeldin A. Proc Natl Acad Sci U S A 1999 1.49
26 Cloning and characterization of PDK4 on 7q21.3 encoding a fourth pyruvate dehydrogenase kinase isoenzyme in human. J Biol Chem 1996 1.41
27 A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36. Genomics 1999 1.40
28 PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7. Genomics 1997 1.38
29 Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome. Am J Hum Genet 2001 1.37
30 Molecular cytogenetic characterization of a critical region in bands 7q35-q36 commonly deleted in malignant myeloid disorders. Blood 1998 1.36
31 Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients. Genomics 1996 1.33
32 Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families. Hum Mol Genet 1994 1.32
33 Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31. Genomics 2001 1.30
34 Involvement of the HLXB9 homeobox gene in Currarino syndrome. Am J Hum Genet 2000 1.29
35 Sequence analysis and chromosomal localization of human Cap Z. Conserved residues within the actin-binding domain may link Cap Z to gelsolin/severin and profilin protein families. J Biol Chem 1995 1.27
36 Replication delay along FRA7H, a common fragile site on human chromosome 7, leads to chromosomal instability. Mol Cell Biol 2000 1.27
37 Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly. Hum Genet 1997 1.25
38 Autism spectrum disorder in the genetics clinic: a review. Clin Genet 2013 1.22
39 Molecular cytogenetic delineation of deletions and translocations involving chromosome band 7q22 in myeloid leukemias. Blood 1997 1.19
40 Dysregulation of cyclin dependent kinase 6 expression in splenic marginal zone lymphoma through chromosome 7q translocations. Oncogene 1999 1.19
41 Regional localization of 725 human chromosome 7-specific yeast artificial chromosome clones. Genomics 1994 1.18
42 Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus. Neurology 2004 1.17
43 Characterization of terminal deletions at 7q32 and 22q13.3 healed by De novo telomere addition. Am J Hum Genet 2000 1.17
44 Identification of a novel gene on chromosome 7q31 that is interrupted by a translocation breakpoint in an autistic individual. Am J Hum Genet 2000 1.14
45 Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome. Hum Mol Genet 1997 1.12
46 Human PON2 gene at 7q21.3: cloning, multiple mRNA forms, and missense polymorphisms in the coding sequence. Gene 1998 1.12
47 Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly. Hum Mol Genet 1997 1.11
48 Mitochondrial DNA haplogroups and mutations in children with acquired central demyelination. Neurology 2011 1.10
49 Physical mapping of the holoprosencephaly critical region on chromosome 7q36. Nat Genet 1993 1.07
50 Genome-wide association analysis of copy number variation in recurrent depressive disorder. Mol Psychiatry 2011 1.05
51 Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22. J Med Genet 2003 1.04
52 The hyaluronidase gene HYAL1 maps to chromosome 3p21.2-p21.3 in human and 9F1-F2 in mouse, a conserved candidate tumor suppressor locus. Genomics 1998 1.04
53 Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome. Genomics 1999 1.02
54 Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation. Am J Hum Genet 1994 1.02
55 Physical mapping of the chromosome 7 breakpoint region in an SLOS patient with t(7;20) (q32.1;q13.2). Am J Med Genet 1997 1.02
56 Delineation of multiple deleted regions in 7q in myeloid disorders. Genes Chromosomes Cancer 1999 1.02
57 Maternal and paternal chromosomes 7 show differential methylation of many genes in lymphoblast DNA. Genomics 2001 1.01
58 Paraoxonase-2 gene (PON2) G148 variant associated with elevated fasting plasma glucose in noninsulin-dependent diabetes mellitus. J Clin Endocrinol Metab 1997 1.00
59 Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder. Clin Genet 2010 1.00
60 Identification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient. Am J Hum Genet 1995 0.99
61 Assignment of growth factor receptor-bound protein 10 (GRB10) to human chromosome 7p11.2-p12. Genomics 1997 0.99
62 Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly. Hum Genet 1998 0.99
63 Identification of a 1300 kilobase deletion unit on chromosome 7q31.3 in invasive epithelial ovarian carcinomas. Oncogene 1997 0.98
64 The imprinted region on human chromosome 7q32 extends to the carboxypeptidase A gene cluster: an imprinted candidate for Silver-Russell syndrome. J Med Genet 2003 0.98
65 Localization to chromosome 7q36.1 of the human XRCC2 gene, determining sensitivity to DNA-damaging agents. Hum Mol Genet 1995 0.97
66 Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome. Am J Hum Genet 1997 0.97
67 Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan. Clin Genet 2010 0.97
68 Molecular definition of a narrow interval at 7q22.1 associated with myelodysplasia. Blood 1996 0.97
69 Cloning and characterization of two cytoplasmic dynein intermediate chain genes in mouse and human. Genomics 1999 0.96
70 A common variant in PPP1R3 associated with insulin resistance and type 2 diabetes. Diabetes 1998 0.96
71 Small GTPase Rac1: structure, localization, and expression of the human gene. Biochem Biophys Res Commun 2000 0.95
72 Genomic imprinting of PPP1R9A encoding neurabin I in skeletal muscle and extra-embryonic tissues. J Med Genet 2004 0.95
73 Genetic variation in paraoxonase-1 and paraoxonase-2 is associated with variation in plasma lipoproteins in Alberta Hutterites. Atherosclerosis 1998 0.94
74 Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue. Genomics 1999 0.93
75 Variation in the AU(AT)-rich element within the 3'-untranslated region of PPP1R3 is associated with variation in plasma glucose in aboriginal Canadians. J Clin Endocrinol Metab 1998 0.92
76 Generation and chromosome mapping of expressed sequence tags (ESTs) from a human infant thymus. Genome 1999 0.92
77 Skin biopsy in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls. Neurology 2003 0.92
78 The human homologue of flamingo, EGFL2, encodes a brain-expressed large cadherin-like protein with epidermal growth factor-like domains, and maps to chromosome 1p13.3-p21.1. DNA Res 2000 0.92
79 The XRCC2 DNA repair gene: identification of a positional candidate. Genomics 1997 0.91
80 Molecular cloning, expression and physical mapping of the human methionine synthase reductase gene. Gene 1999 0.91
81 Gene structure of the human MET proto-oncogene. Oncogene 1997 0.91
82 Loss of heterozygosity and reduced expression of the CUTL1 gene in uterine leiomyomas. Oncogene 1997 0.91
83 Human GBF1 is a ubiquitously expressed gene of the sec7 domain family mapping to 10q24. Genomics 1998 0.90
84 Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy. Ann Neurol 1999 0.90
85 The BCL7 gene family: deletion of BCL7B in Williams syndrome. Gene 1998 0.90
86 Laforin is a cell membrane and endoplasmic reticulum-associated protein tyrosine phosphatase. Ann Neurol 2001 0.90
87 Molecular characterization of zyme/protease M/neurosin (PRSS9), a hormonally regulated kallikrein-like serine protease. Genomics 1999 0.89
88 Holoprosencephaly and cleidocranial dysplasia in a patient due to two position-effect mutations: case report and review of the literature. Clin Genet 2005 0.88
89 Structural characterization and mapping of the normal epithelial cell-specific 1 gene. Biochem Biophys Res Commun 1998 0.88
90 Detailed deletion mapping with a refined physical map of 7q31 localizes a putative tumor suppressor gene for breast cancer in the region of MET. Oncogene 1996 0.88
91 Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3. J Med Genet 1996 0.88
92 Structure and mapping of the human lanosterol 14alpha-demethylase gene (CYP51) encoding the cytochrome P450 involved in cholesterol biosynthesis; comparison of exon/intron organization with other mammalian and fungal CYP genes. Genomics 1996 0.88
93 Expression and mutation status of candidate kinases in multiple myeloma. Leukemia 2007 0.87
94 A yeast artificial chromosome-based physical map of the juvenile amyotrophic lateral sclerosis (ALS2) critical region on human chromosome 2q33-q34. Genomics 1999 0.87
95 Cloning and characterization of three novel genes, ALS2CR1, ALS2CR2, and ALS2CR3, in the juvenile amyotrophic lateral sclerosis (ALS2) critical region at chromosome 2q33-q34: candidate genes for ALS2. Genomics 2001 0.87
96 An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster. J Med Genet 2006 0.86
97 X-linked vacuolar myopathies: two separate loci and refined genetic mapping. Ann Neurol 2000 0.86
98 Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting. Cytogenet Genome Res 2009 0.85
99 Analysis of the monomeric alphoid sequences in the pericentromeric region of human chromosome 7. Cytogenet Cell Genet 1998 0.85
100 Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency.. Clin Genet 2000 0.84
101 The human contactin-associated protein-like 2 gene (CNTNAP2) spans over 2 Mb of DNA at chromosome 7q35. Genomics 2001 0.84
102 P450RAI (CYP26A1) maps to human chromosome 10q23-q24 and mouse chromosome 19C2-3. Genomics 1998 0.83
103 t(7;12)(q36;p13), a new recurrent translocation involving ETV6 in infant leukemia. Genes Chromosomes Cancer 2000 0.81
104 Mutation analysis of the origin recognition complex subunit 5 (ORC5L) gene in adult patients with myeloid leukemias exhibiting deletions of chromosome band 7q22. Hum Genet 2001 0.80
105 Identification of new and common mutations in the EPM2A gene in Lafora disease. Neurology 2000 0.80
106 Detection of a homozygous four base pair deletion in the protein X gene in a case of pyruvate dehydrogenase complex deficiency. Hum Mol Genet 1998 0.80
107 Characterization of the human myeloid leukemia-derived cell line GF-D8 by multiplex fluorescence in situ hybridization, subtelomeric probes, and comparative genomic hybridization. Genes Chromosomes Cancer 1999 0.80
108 Positional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31. Genome Res 1996 0.80
109 Genetic variation in paraoxonase-2 is associated with variation in plasma lipoproteins in Canadian Oji-Cree. Clin Genet 1998 0.80
110 Expression and regulation of glucoamylase from the yeast Schwanniomyces castellii. J Bacteriol 1990 0.80
111 Classification of deletions and identification of cryptic translocations involving 7q by fluorescence in situ hybridization (FISH). Leukemia 1996 0.80
112 A YAC-based contig of 1.5 Mb spanning the human multidrug resistance gene region and delineating the amplification unit in three human multidrug-resistant cell lines. Genome Res 1995 0.79
113 Chromosomal localization of phospholipase A2 activating protein, an Ets2 target gene, to 9p21. Genomics 1999 0.79
114 Localization of the gene encoding the alpha 2/delta subunit (CACNL2A) of the human skeletal muscle voltage-dependent Ca2+ channel to chromosome 7q21-q22 by somatic cell hybrid analysis. Genomics 1994 0.79
115 Genomic organization and transcript analysis of ICAp69, a target antigen in diabetic autoimmunity. Genomics 1996 0.78
116 cDNA cloning, characterization and chromosome mapping of the gene encoding human cartilage associated protein (CRTAP). Cytogenet Cell Genet 1999 0.78
117 Assignment of the 5-hydroxytryptamine (serotonin) receptor 5A gene (HTR5A) to human chromosome band 7q36.1. Cytogenet Cell Genet 1996 0.78
118 Human secretin (SCT): gene structure, chromosome location, and distribution of mRNA. Cytogenet Cell Genet 2000 0.78
119 Delineation of genomic regions in chromosome band 7q22 commonly deleted in myeloid leukemias. Recent Results Cancer Res 1998 0.78
120 Genomic structure of the human congenital chloride diarrhea (CLD) gene. Gene 1998 0.78
121 Fine mapping of the human and mouse genes for the type I procollagen COOH-terminal proteinase enhancer protein. Genomics 1996 0.77
122 Assignment of the SLC25A12 gene coding for the human calcium-binding mitochondrial solute carrier protein aralar to human chromosome 2q24. Cytogenet Cell Genet 1999 0.77
123 Paraoxonase-2 G148 variant in an aboriginal Canadian girl with non-insulin-dependent diabetes. Lancet 1997 0.76
124 Mapping the midkine family of developmentally regulated signaling molecules. Mamm Genome 1993 0.76
125 Refined localization of the asparagine synthetase gene (ASNS) to chromosome 7, region q21.3, and characterization of the somatic cell hybrid line 4AF/106/KO15. Cytogenet Cell Genet 1994 0.76
126 Localization of the human mGluR4 gene within an epilepsy susceptibility locus(1). Brain Res Mol Brain Res 2001 0.76
127 Chromosome mapping of the human genes encoding the MAP kinase kinase MEK1 (MAP2K1) to 15q21 and MEK2 (MAP2K2) to 7q32. Cytogenet Cell Genet 2000 0.75
128 Localization of the human SP3 gene to chromosome 7p14-p15.2. The lack of expression in multiple sclerosis does not reflect abnormal gene organization. J Neuroimmunol 2000 0.75
129 A panel of radiation hybrids defining the 7q31-q32 region of human chromosome 7. DNA Res 1996 0.75
130 Clustering of human chromosome fragments on the mouse genome by chromosome-mediated gene transfer. DNA Res 1998 0.75
131 Mapping the human growth hormone-releasing hormone receptor (GHRHR) gene to the short arm of chromosome 7 (7p13-p21) near the epidermal growth factor receptor (EGFR) gene. Genomics 1994 0.75
132 Maintenance of hypomethylation status and preferential expression of exogenous human MDR1/PGY1 gene in mouse L cells by YAC mediated transfer. Somat Cell Mol Genet 1997 0.75
133 Cloning of a DSS1 pseudogene (DSS1P1) and mapping to human chromosome band 5q14. Mamm Genome 1997 0.75
134 Resources for human genetics on the World Wide Web. Mol Med Today 1997 0.75
135 Physical mapping of a tandem duplication on the long arm of chromosome 7 associated with a multidrug resistant phenotype. Cancer Genet Cytogenet 1999 0.75
136 Mapping of the human Lunatic Fringe (LFNG) gene to 7p22 and Manic Fringe (MFNG) to 22q12. Genomics 1998 0.75
137 Localization of 67 exons on a YAC contig spanning 1.5 Mb around the multidrug resistance gene region of human chromosome 7q21.1. Genomics 1998 0.75
138 Fluorescent in situ mapping of the murine deleted in split hand/split foot 1 (dss1) gene to chromosome 6. Mamm Genome 1997 0.75