Literature DB >> 20634812

Missing heritability: paternal age effect mutations and selfish spermatogonia.

Anne Goriely, Andrew O M Wilkie.   

Abstract

Mesh：

Year:  2010        PMID： 20634812     DOI： 10.1038/nrg2809-c1

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN： 1471-0056            Impact factor:   53.242


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  15 in total

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2.  Age and sex effects on human mutation rates: an old problem with new complexities.

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3.  Analysis of genetic inheritance in a family quartet by whole-genome sequencing.

Authors:  Jared C Roach; Gustavo Glusman; Arian F A Smit; Chad D Huff; Robert Hubley; Paul T Shannon; Lee Rowen; Krishna P Pant; Nathan Goodman; Michael Bamshad; Jay Shendure; Radoje Drmanac; Lynn B Jorde; Leroy Hood; David J Galas
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4.  Exclusive paternal origin of new mutations in Apert syndrome.

Authors:  D M Moloney; S F Slaney; M Oldridge; S A Wall; P Sahlin; G Stenman; A O Wilkie
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Review 5.  Hyperactive Ras in developmental disorders and cancer.

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Review 6.  MAP'ing CNS development and cognition: an ERKsome process.

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7.  Risk of autism and increasing maternal and paternal age in a large north American population.

Authors:  Judith K Grether; Meredith C Anderson; Lisa A Croen; Daniel Smith; Gayle C Windham
Journal:  Am J Epidemiol       Date:  2009-09-25       Impact factor: 4.897

8.  Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line.

Authors:  Anne Goriely; Gilean A T McVean; Maria Röjmyr; Björn Ingemarsson; Andrew O M Wilkie
Journal:  Science       Date:  2003-08-01       Impact factor: 47.728

Review 9.  Common and rare variants in multifactorial susceptibility to common diseases.

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10.  The molecular anatomy of spontaneous germline mutations in human testes.

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Journal:  PLoS Biol       Date:  2007-09       Impact factor: 8.029
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  18 in total

1.  Fibroblast growth factor receptor 3 is highly expressed in rarely dividing human type A spermatogonia.

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Review 2.  De novo mutations in human genetic disease.

Authors:  Joris A Veltman; Han G Brunner
Journal:  Nat Rev Genet       Date:  2012-07-18       Impact factor: 53.242

Review 3.  The importance of phase information for human genomics.

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Journal:  Nat Rev Genet       Date:  2011-02-08       Impact factor: 53.242

Review 4.  Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease.

Authors:  Anne Goriely; Andrew O M Wilkie
Journal:  Am J Hum Genet       Date:  2012-02-10       Impact factor: 11.025

5.  Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes.

Authors:  Stefan H Lelieveld; Laurens Wiel; Hanka Venselaar; Rolph Pfundt; Gerrit Vriend; Joris A Veltman; Han G Brunner; Lisenka E L M Vissers; Christian Gilissen
Journal:  Am J Hum Genet       Date:  2017-08-31       Impact factor: 11.025

Review 6.  "Selfish spermatogonial selection": a novel mechanism for the association between advanced paternal age and neurodevelopmental disorders.

Authors:  Anne Goriely; John J McGrath; Christina M Hultman; Andrew O M Wilkie; Dolores Malaspina
Journal:  Am J Psychiatry       Date:  2013-06       Impact factor: 18.112

7.  Beyond missing heritability: prediction of complex traits.

Authors:  Robert Makowsky; Nicholas M Pajewski; Yann C Klimentidis; Ana I Vazquez; Christine W Duarte; David B Allison; Gustavo de los Campos
Journal:  PLoS Genet       Date:  2011-04-28       Impact factor: 5.917

8.  Positive selection for new disease mutations in the human germline: evidence from the heritable cancer syndrome multiple endocrine neoplasia type 2B.

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9.  'Sifting the significance from the data' - the impact of high-throughput genomic technologies on human genetics and health care.

Authors:  Angus J Clarke; David N Cooper; Michael Krawczak; Chris Tyler-Smith; Helen M Wallace; Andrew O M Wilkie; Frances Lucy Raymond; Ruth Chadwick; Nick Craddock; Ros John; John Gallacher; Mathias Chiano
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10.  Activating somatic FGFR2 mutations in breast cancer.

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