Literature DB >> 15689624

Haldane and the first estimates of the human mutation rate.

Michael W Nachman1.   

Abstract

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Year:  2004        PMID： 15689624     DOI： 10.1007/bf02717891

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  18 in total

1.  Estimate of the mutation rate per nucleotide in humans.

Authors:  M W Nachman; S L Crowell
Journal:  Genetics       Date:  2000-09       Impact factor: 4.562

2.  Our load of mutations.

Authors:  H J MULLER
Journal:  Am J Hum Genet       Date:  1950-06       Impact factor: 11.025

3.  The mutation rate of the gene for haemophilia, and its segregation ratios in males and females.

Authors:  J B S HALDANE
Journal:  Ann Eugen       Date:  1947-06

Review 4.  Rates of spontaneous mutation.

Authors:  J W Drake; B Charlesworth; D Charlesworth; J F Crow
Journal:  Genetics       Date:  1998-04       Impact factor: 4.562

5.  A molecular approach to estimating the human deleterious mutation rate.

Authors:  A S Kondrashov; J F Crow
Journal:  Hum Mutat       Date:  1993       Impact factor: 4.878

6.  Strong male-driven evolution of DNA sequences in humans and apes.

Authors:  Kateryna D Makova; Wen-Hsiung Li
Journal:  Nature       Date:  2002-04-11       Impact factor: 49.962

7.  Phylogenetic shadowing of primate sequences to find functional regions of the human genome.

Authors:  Dario Boffelli; Jon McAuliffe; Dmitriy Ovcharenko; Keith D Lewis; Ivan Ovcharenko; Lior Pachter; Edward M Rubin
Journal:  Science       Date:  2003-02-28       Impact factor: 47.728

8.  Comparison of human chromosome 21 conserved nongenic sequences (CNGs) with the mouse and dog genomes shows that their selective constraint is independent of their genic environment.

Authors:  Emmanouil T Dermitzakis; Ewen Kirkness; Scott Schwarz; Ewan Birney; Alexandre Reymond; Stylianos E Antonarakis
Journal:  Genome Res       Date:  2004-04-12       Impact factor: 9.043

9.  Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases.

Authors:  Alexey S Kondrashov
Journal:  Hum Mutat       Date:  2003-01       Impact factor: 4.878

10.  Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs).

Authors:  Emmanouil T Dermitzakis; Alexandre Reymond; Nathalie Scamuffa; Catherine Ucla; Ewen Kirkness; Colette Rossier; Stylianos E Antonarakis
Journal:  Science       Date:  2003-10-02       Impact factor: 47.728
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  7 in total

Review 1.  Measurements of spontaneous rates of mutations in the recent past and the near future.

Authors:  Fyodor A Kondrashov; Alexey S Kondrashov
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  2010-04-27       Impact factor: 6.237

Review 2.  Gene therapies in canine models for Duchenne muscular dystrophy.

Authors:  Peter P Nghiem; Joe N Kornegay
Journal:  Hum Genet       Date:  2019-02-07       Impact factor: 4.132

3.  MLPA Application in Clinical Diagnosis of DMD/BMD in Shanghai.

Authors:  Xing Ji; Jingmin Zhang; Yan Xu; Fei Long; Wei Sun; Xiaoqin Liu; Yingwei Chen; Wenting Jiang
Journal:  J Clin Lab Anal       Date:  2014-08-17       Impact factor: 2.352

4.  The influence of genomic context on mutation patterns in the human genome inferred from rare variants.

Authors:  Valerie M Schaibley; Matthew Zawistowski; Daniel Wegmann; Margaret G Ehm; Matthew R Nelson; Pamela L St Jean; Gonçalo R Abecasis; John Novembre; Sebastian Zöllner; Jun Z Li
Journal:  Genome Res       Date:  2013-08-29       Impact factor: 9.043

5.  Mutation rates and the evolution of germline structure.

Authors:  Aylwyn Scally
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  2016-07-19       Impact factor: 6.237

6.  De novo Mutations in Domestic Cat are Consistent with an Effect of Reproductive Longevity on Both the Rate and Spectrum of Mutations.

Authors:  Richard J Wang; Muthuswamy Raveendran; R Alan Harris; William J Murphy; Leslie A Lyons; Jeffrey Rogers; Matthew W Hahn
Journal:  Mol Biol Evol       Date:  2022-07-02       Impact factor: 8.800

Review 7.  Cellular pathology of the human heart in Duchenne muscular dystrophy (DMD): lessons learned from in vitro modeling.

Authors:  Albano C Meli; Vladimir Rotrekl; Barbora Svobodova; Sarka Jelinkova; Martin Pesl; Deborah Beckerová; Alain Lacampagne
Journal:  Pflugers Arch       Date:  2021-06-24       Impact factor: 3.657
  7 in total

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