PubRank

R L Nussbaum

Author PubWeight™ 165.62‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 1997 28.30
2 The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein. Cell 1993 4.10
3 Mapping of a gene for Parkinson's disease to chromosome 4q21-q23. Science 1996 3.79
4 Report of the committee on the genetic constitution of the X chromosome. Cytogenet Cell Genet 1989 3.37
5 Proliferative defect and embryonic lethality in mice homozygous for a deletion in the p110alpha subunit of phosphoinositide 3-kinase. J Biol Chem 1999 3.17
6 Essential role for KH domains in RNA binding: impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndrome. Cell 1994 3.01
7 DLB and PDD boundary issues: diagnosis, treatment, molecular pathology, and biomarkers. Neurology 2007 2.86
8 Organization of the HPRT gene and related sequences in the human genome. Somat Cell Mol Genet 1984 2.84
9 A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man. Proc Natl Acad Sci U S A 1983 2.73
10 The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. Nature 1992 2.64
11 Effect of allelic variation at the NACP-Rep1 repeat upstream of the alpha-synuclein gene (SNCA) on transcription in a cell culture luciferase reporter system. Hum Mol Genet 2001 2.52
12 Parkinsonism among Gaucher disease carriers. J Med Genet 2004 2.24
13 Cloning of human and bovine homologs of SNF2/SWI2: a global activator of transcription in yeast S. cerevisiae. Nucleic Acids Res 1992 2.14
14 Alpha synuclein is present in Lewy bodies in sporadic Parkinson's disease. Mol Psychiatry 1998 2.12
15 The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2. EMBO J 1995 2.05
16 Addressing the challenges of the clinical application of pharmacogenetic testing. Clin Pharmacol Ther 2009 1.99
17 A rodent-human hybrid containing Xq24-qter translocated to a hamster chromosome expresses the Xq27 folate-sensitive fragile site. Am J Med Genet 1986 1.94
18 Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation. Proc Natl Acad Sci U S A 1987 1.83
19 Human chromosomal assignments for 14 argininosuccinate synthetase pseudogenes: cloned DNAs as reagents for cytogenetic analysis. Am J Hum Genet 1984 1.73
20 Carrier detection in X-linked severe combined immunodeficiency based on patterns of X chromosome inactivation. J Clin Invest 1987 1.67
21 Fragile X syndrome: a unique mutation in man. Annu Rev Genet 1986 1.66
22 Two anonymous X-specific human sequences detecting restriction fragment length polymorphisms in region Xq26----qter. Somat Cell Mol Genet 1984 1.65
23 Human and mouse alpha-synuclein genes: comparative genomic sequence analysis and identification of a novel gene regulatory element. Genome Res 2001 1.65
24 The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex. Am J Hum Genet 1995 1.64
25 Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe. Hum Mol Genet 1993 1.63
26 Heterogeneity of clinical severity and molecular lesions in Aicardi syndrome. J Pediatr 1990 1.62
27 FXR1, an autosomal homolog of the fragile X mental retardation gene. EMBO J 1995 1.61
28 Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice. J Clin Invest 1998 1.59
29 Expression of the fragile (X) chromosome in an interspecific somatic cell hybrid. Hum Genet 1983 1.55
30 Targeted disruption of the Cln3 gene provides a mouse model for Batten disease. The Batten Mouse Model Consortium [corrected]. Neurobiol Dis 1999 1.54
31 Report of the committee on the genetic constitution of the X chromosome. Cytogenet Cell Genet 1990 1.51
32 Maximum-likelihood analysis of human T-cell X chromosome inactivation patterns: normal women versus carriers of X-linked severe combined immunodeficiency. Am J Hum Genet 1992 1.50
33 Miller-Dieker syndrome: lissencephaly and monosomy 17p. J Pediatr 1983 1.46
34 Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes. Genomics 1989 1.44
35 Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment. Am J Hum Genet 1988 1.40
36 Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21. Am J Hum Genet 1989 1.29
37 Identification, localization and characterization of the human gamma-synuclein gene. Hum Genet 1998 1.27
38 X-linked severe combined immunodeficiency: localization within the region Xq13.1-q21.1 by linkage and deletion analysis. Am J Hum Genet 1989 1.26
39 Mapping X-linked ophthalmic diseases: II. Linkage relationship of X-linked retinitis pigmentosa to X chromosomal short arm markers. Hum Genet 1985 1.23
40 Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms. J Clin Invest 1987 1.22
41 Ocrl1, a PtdIns(4,5)P(2) 5-phosphatase, is localized to the trans-Golgi network of fibroblasts and epithelial cells. J Histochem Cytochem 2000 1.22
42 Recombination and amplification of pyrimidine-rich sequences may be responsible for initiation and progression of the Xq27 fragile site: an hypothesis. Am J Med Genet 1986 1.19
43 Linkage analysis in X-linked ocular albinism. Genomics 1991 1.17
44 Newborn screening for sickling hemoglobinopathies. Houston, 1976 to 1980. Am J Dis Child 1984 1.16
45 Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency. J Clin Invest 1988 1.16
46 Thymidylate synthase-deficient Chinese hamster cells: a selection system for human chromosome 18 and experimental system for the study of thymidylate synthase regulation and fragile X expression. Am J Hum Genet 1985 1.15
47 Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. Am J Hum Genet 1997 1.14
48 alpha-synuclein is phosphorylated by members of the Src family of protein-tyrosine kinases. J Biol Chem 2000 1.13
49 Choroideremia is linked to the restriction fragment length polymorphism DXYS1 at XQ13-21. Am J Hum Genet 1985 1.12
50 New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency. Am J Hum Genet 1986 1.12
51 The Gardner syndrome. Significance of ocular features. Ophthalmology 1984 1.11
52 The effect of missense mutations in the RhoGAP-homology domain on ocrl1 function. Mol Genet Metab 2006 1.11
53 Long uninterrupted CGG repeats within the first exon of the human FMR1 gene are not intrinsically unstable in transgenic mice. Genomics 1998 1.10
54 Chromosomal localization of the genes for the vitronectin and fibronectin receptors alpha subunits and for platelet glycoproteins IIb and IIIa. J Clin Invest 1988 1.09
55 Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency. N Engl J Med 1988 1.09
56 Multipoint linkage analysis of loci in the proximal long arm of the human X chromosome: application to mapping the choroideremia locus. Am J Hum Genet 1987 1.06
57 Implications of fragile X expression in normal males for the nature of the mutation. Nature 1986 1.06
58 Identification and characterization of golgin-84, a novel Golgi integral membrane protein with a cytoplasmic coiled-coil domain. J Biol Chem 1999 1.05
59 Localization of myeloperoxidase to the long arm of human chromosome 17: relationship to the 15; 17 translocation of acute promyelocytic leukemia. Oncogene 1987 1.02
60 Mapping X-linked ophthalmic diseases. IV. Provisional assignment of the locus for X-linked congenital cataracts and microcornea (the Nance-Horan syndrome) to Xp22.2-p22.3. Ophthalmology 1990 1.01
61 Isolation and regional mapping of 110 chromosome 22 STSs. Genomics 1994 1.01
62 An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry. Am J Hum Genet 1989 1.00
63 In situ hybridization to cytogenetic bands of yeast artificial chromosomes covering 50% of human Xq24-Xq28 DNA. Am J Hum Genet 1991 1.00
64 Disrupted sperm function and fertilin beta processing in mice deficient in the inositol polyphosphate 5-phosphatase Inpp5b. Dev Biol 2001 0.99
65 Fatty acid incorporation is decreased in astrocytes cultured from alpha-synuclein gene-ablated mice. J Neurochem 2005 0.98
66 An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cells. J Clin Invest 1989 0.98
67 Linkage analysis of a large Latin-American family with X-linked retinitis pigmentosa and metallic sheen in the heterozygote carrier. Genomics 1989 0.97
68 Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients. Mol Genet Metab 1998 0.96
69 SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies. Neurology 2004 0.95
70 Nondisjunction rates and abnormal embryonic development in a mouse cross between heterozygotes carrying a (7, 18) robertsonian translocation chromosome. Genetics 1995 0.94
71 Report of the committee on the genetic constitution of the X chromosome. Cytogenet Cell Genet 1988 0.93
72 Sporadic occurrence of Duchenne muscular dystrophy: evidence for new mutation. Clin Genet 1980 0.91
73 Mapping X-linked ophthalmic diseases. Provisional assignment of the locus for choroideremia to Xq13-q24. Ophthalmology 1985 0.90
74 Construction and characterization of a yeast artificial chromosome library for Xpter-Xq27.3: a systematic determination of cocloning rate and X-chromosome representation. Genomics 1992 0.89
75 Trinucleotide repeats (CGG)22TGG(CGG)43TGG(CGG)21 from the fragile X gene remain stable in transgenic mice. Hum Genet 1997 0.88
76 Human hypoxanthine-guanine phosphoribosyltransferase. Detection of a mutant allele by restriction endonuclease analysis. J Clin Invest 1983 0.88
77 Partial deletions of a sequence family ("DXS278") and its physical linkage to steroid sulfatase as detected by pulsed-field gel electrophoresis. Genomics 1990 0.88
78 Morbidity of sickle cell trait at high altitude. South Med J 1984 0.88
79 New polymorphisms at the DXS98 locus and confirmation of its location proximal to FRAXA by in situ hybridization. Am J Hum Genet 1989 0.86
80 Genetic and physical mapping of Xq24-q26 markers flanking the Lowe oculocerebrorenal syndrome. Genomics 1990 0.85
81 Caffeine enhances fragile (X) expression in somatic cell hybrids. Am J Med Genet 1986 0.85
82 DXS165 detects a translocation breakpoint in a woman with choroideremia and a de novo X; 13 translocation. Genomics 1990 0.85
83 Absence of mutation in the beta- and gamma-synuclein genes in familial autosomal dominant Parkinson's disease. DNA Res 1998 0.85
84 Linkage analysis of seven kindreds with the X-linked lymphoproliferative syndrome (XLP) confirms that the XLP locus is near DXS42 and DXS37. Hum Genet 1989 0.84
85 Cloning and genomic organization of the mouse gene slc23a1 encoding a vitamin C transporter. DNA Res 2000 0.84
86 Characterization and use of cloned sequences of the hypoxanthine-guanine phosphoribosyltransferase gene. Adv Exp Med Biol 1984 0.83
87 Mapping of the 75-kDa inositol polyphosphate-5-phosphatase (Inpp5b) to distal mouse chromosome 4 and its exclusion as a candidate gene for dysgenetic lens. Genomics 1995 0.83
88 First report of prenatal biochemical diagnosis of Lowe syndrome. Prenat Diagn 1998 0.83
89 Detection of translocation breakpoints by pulsed field gel analysis: practical considerations. Nucleic Acids Res 1989 0.82
90 Genomic organization and expression of the human beta-synuclein gene (SNCB). Genomics 1998 0.82
91 Purification and characterization of hypoxanthine-guanine phosphoribosyltransferase from Saccharomyces cerevisiae. Biochemistry 1981 0.82
92 Deletion mapping and a highly reduced radiation hybrid in the Xp22.3-p22.2 region. Genomics 1993 0.81
93 Isolation of a candidate gene for choroideremia. Proc Natl Acad Sci U S A 1992 0.81
94 A murine model for juvenile NCL: gene targeting of mouse Cln3. Mol Genet Metab 1999 0.80
95 Fragile (X) expression induced by FUdR is transient and inversely related to levels of thymidylate synthase activity. Am J Hum Genet 1985 0.78
96 RFLPs in human X-linked PGK1: a new probe for the PstI RFLP demonstrates strong linkage disequilibrium with the BgII RFLP. Nucleic Acids Res 1989 0.78
97 High resolution MRI reveals global changes in brains of Cln3 mutant mice. Eur J Paediatr Neurol 2001 0.78
98 Localization of the 75-kDa inositol polyphosphate-5-phosphatase (INPP5B) to human chromosome band 1p34. Cytogenet Cell Genet 1994 0.78
99 Parental origin of de novo translocation in a patient with both an inherited and a de novo chromosome translocation. Am J Med Genet 1990 0.78
100 Abnormal bradykinin signalling in fibroblasts deficient in the PIP(2) 5-phosphatase, ocrl1. J Inherit Metab Dis 2009 0.78
101 Contig map of the Parkinson's disease region on 4q21-q23. DNA Res 1998 0.78
102 Putting the parkin into Parkinson's. Nature 1998 0.78
103 Molecular confirmation of carriers for Lowe syndrome. Ophthalmology 1999 0.76
104 Linkage studies and deletion screening in choroideremia. J Med Genet 1990 0.76
105 RFLP locus DXS42 is proximal to the locus for hypoxanthine phosphoribosyltransferase. Am J Hum Genet 1986 0.76
106 A case of myocardial infarction in a patient with Werner's syndrome. Tex Heart Inst J 1984 0.75
107 Dual developments in diabetes. Nat Genet 1992 0.75
108 Somatic cell hybrid studies of fragile (X) expression in a carrier female and transmitting male. Am J Med Genet 1986 0.75
109 Southern analysis of the Lesch-Nyhan locus in man. Adv Exp Med Biol 1984 0.75
110 Regulation of alpha-synuclein expression: implications for Parkinson's disease. Cold Spring Harb Symp Quant Biol 2003 0.75
111 Identification and chromosomal mapping of the mouse inositol polyphosphate 1-phosphatase gene. Genomics 1995 0.75
112 Isolation of cDNA sequences around the chromosomal breakpoint in a female with Lowe syndrome by direct screening of cDNA libraries with yeast artificial chromosomes. J Inherit Metab Dis 1992 0.75