Paper Chase is a research database designed to offer abstracts of research articles published in journals that have a highly rated impact factor as determined by ISI Impact Factor and PageRank. Abstracts are organized by date, with the most recently published papers listed first. 

Paper Chase


A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2).

Nat. Genet.
Muragaki Y, Mariman EC, van Beersum SE, Perälä M, van Mourik JB, Warman ML, Olsen BR, Hamel BC.
| 1 1, 1996

Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase.

Nat. Genet.
Huang SH, Pittler SJ, Huang X, Oliveira L, Berson EL, Dryja TP.
| 12 1, 1995

A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.

Nat. Genet.
Ho C, Conner DA, Pollak MR, Ladd DJ, Kifor O, Warren HB, Brown EM, Seidman JG, Seidman CE.
| 12 1, 1995

Gene therapy of metastatic cancer by in vivo retroviral gene targeting.

Nat. Genet.
Hurford RK, Dranoff G, Mulligan RC, Tepper RI.
| 8 1, 1995

Detection of mutations by cleavage of DNA heteroduplexes with bacteriophage resolvases.

Nat. Genet.
Mashal RD, Koontz J, Sklar J.
| 2 1, 1995

A genetic linkage map of the laboratory rat, Rattus norvegicus.

Nat. Genet.
Jacob HJ, Brown DM, Bunker RK, Daly MJ, Dzau VJ, Goodman A, Koike G, Kren V, Kurtz T, Lernmark A.
| 1 1, 1995

Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation.

Nat. Genet.
Pollak MR, Brown EM, Estep HL, McLaine PN, Kifor O, Park J, Hebert SC, Seidman CE, Seidman JG.
| 11 1, 1994

A gene defect that causes conduction system disease and dilated cardiomyopathy maps to chromosome 1p1-1q1.

Nat. Genet.
Kass S, MacRae C, Graber HL, Sparks EA, McNamara D, Boudoulas H, Basson CT, Baker PB, Cody RJ, Fishman MC.
| 8 1, 1994

PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects.

Nat. Genet.
Glaser T, Jepeal L, Edwards JG, Young SR, Favor J, Maas RL.
| 8 1, 1994

A complex bilateral polysyndactyly disease locus maps to chromosome 7q36.

Nat. Genet.
Tsukurov O, Boehmer A, Flynn J, Nicolai JP, Hamel BC, Traill S, Zaleske D, Mankin HJ, Yeon H, Ho C.
| 3 1, 1994

Isolation of genes from complex sources of mammalian genomic DNA using exon amplification.

Nat. Genet.
Church DM, Stotler CJ, Rutter JL, Murrell JR, Trofatter JA, Buckler AJ.
| 1 1, 1994

Inactivation of WT1 in nephrogenic rests, genetic precursors to Wilms' tumour.

Nat. Genet.
Park S, Bernard A, Bove KE, Sens DA, Hazen-Martin DJ, Garvin AJ, Haber DA.
| 12 1, 1993

The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene.

Nat. Genet.
Tanzi RE, Petrukhin K, Chernov I, Pellequer JL, Wasco W, Ross B, Romano DM, Parano E, Pavone L, Brzustowicz LM.
| 12 1, 1993

Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2.

Nat. Genet.
Pollak MR, Chou YH, Cerda JJ, Steinmann B, La Du BN, Seidman JG, Seidman CE.
| 10 1, 1993

A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy.

Nat. Genet.
Chen ZY, Battinelli EM, Fielder A, Bundey S, Sims K, Breakefield XO, Craig IW.
| 10 1, 1993

Screening patients for heterozygous p53 mutations using a functional assay in yeast.

Nat. Genet.
Ishioka C, Frebourg T, Yan YX, Vidal M, Friend SH, Schmidt S, Iggo R.
| 10 1, 1993

Isolation and characterization of APLP2 encoding a homologue of the Alzheimer's associated amyloid beta protein precursor.

Nat. Genet.
Wasco W, Gurubhagavatula S, Paradis MD, Romano DM, Sisodia SS, Hyman BT, Neve RL, Tanzi RE.
| 9 1, 1993