Timing, rates and spectra of human germline mutation

[1]  Regis A. James,et al.  Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics. , 2014, American journal of human genetics.

[2]  Molly Przeworski,et al.  Determinants of mutation rate variation in the human germline. , 2014, Annual review of genomics and human genetics.

[3]  E. Wieben,et al.  Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: A case of gonadal mosaicism , 2014, American journal of medical genetics. Part A.

[4]  L. Vissers,et al.  Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders. , 2014, American journal of human genetics.

[5]  Gil McVean,et al.  Strong male bias drives germline mutation in chimpanzees , 2014, Science.

[6]  D. G. MacArthur,et al.  Guidelines for investigating causality of sequence variants in human disease , 2014, Nature.

[7]  Heng Li,et al.  Toward better understanding of artifacts in variant calling from high-coverage samples , 2014, Bioinform..

[8]  G. Scarano,et al.  Recurrence of CCHS associated PHOX2B poly‐alanine expansion mutation due to maternal mosaicism , 2014, Pediatric pulmonology.

[9]  S. Anazi,et al.  Gonadal mosaicism as a rare cause of autosomal recessive inheritance , 2014, Clinical genetics.

[10]  Kanxing Zhao,et al.  Maternal germline mosaicism of kinesin family member 21A (KIF21A) mutation causes complex phenotypes in a Chinese family with congenital fibrosis of the extraocular muscles , 2014, Molecular vision.

[11]  Arthur Wuster,et al.  DeNovoGear: de novo indel and point mutation discovery and phasing , 2013, Nature Methods.

[12]  Evan E Eichler,et al.  Properties and rates of germline mutations in humans. , 2013, Trends in genetics : TIG.

[13]  John Novembre,et al.  The influence of genomic context on mutation patterns in the human genome inferred from rare variants , 2013, Genome research.

[14]  David T. W. Jones,et al.  Signatures of mutational processes in human cancer , 2013, Nature.

[15]  J. Lupski Genome Mosaicism—One Human, Multiple Genomes , 2013, Science.

[16]  Leslie G. Biesecker,et al.  A genomic view of mosaicism and human disease , 2013, Nature Reviews Genetics.

[17]  P. Fergelot,et al.  Germline mosaicism in Rubinstein-Taybi syndrome. , 2013, Gene.

[18]  C. Walter,et al.  The Paternal Age Effect: A Multifaceted Phenomenon , 2013, Biology of reproduction.

[19]  Lilia M. Iakoucheva,et al.  Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation , 2012, Cell.

[20]  R. Durbin,et al.  Revising the human mutation rate: implications for understanding human evolution , 2012, Nature Reviews Genetics.

[21]  S. Steinberg,et al.  Rate of de novo mutations and the importance of father’s age to disease risk , 2012, Nature.

[22]  Stephen R. Quake,et al.  Genome-wide Single-Cell Analysis of Recombination Activity and De Novo Mutation Rates in Human Sperm , 2012, Cell.

[23]  ENCODEConsortium,et al.  An Integrated Encyclopedia of DNA Elements in the Human Genome , 2012, Nature.

[24]  A. Wilkie,et al.  Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease. , 2012, American journal of human genetics.

[25]  Melissa A. Wilson Sayres,et al.  Genome analyses substantiate male mutation bias in many species , 2011, BioEssays : news and reviews in molecular, cellular and developmental biology.

[26]  M. Pagel,et al.  DO VARIATIONS IN SUBSTITUTION RATES AND MALE MUTATION BIAS CORRELATE WITH LIFE‐HISTORY TRAITS? A STUDY OF 32 MAMMALIAN GENOMES , 2011, Evolution; international journal of organic evolution.

[27]  M. DePristo,et al.  Variation in genome-wide mutation rates within and between human families , 2011, Nature Genetics.

[28]  J. Vermeesch,et al.  The Human Cleavage Stage Embryo Is a Cradle of Chromosomal Rearrangements , 2011, Cytogenetic and Genome Research.

[29]  P. Shannon,et al.  Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing , 2010, Science.

[30]  Laurent Duret,et al.  Biased gene conversion and the evolution of mammalian genomic landscapes. , 2009, Annual review of genomics and human genetics.

[31]  Gonçalo R. Abecasis,et al.  The Sequence Alignment/Map format and SAMtools , 2009, Bioinform..

[32]  Maido Remm,et al.  Enhancements and modifications of primer design program Primer3 , 2007, Bioinform..

[33]  P. Dear,et al.  An efficient method for multi-locus molecular haplotyping , 2006, Nucleic acids research.

[34]  Michael Krawczak,et al.  Cytosine methylation and the fate of CpG dinucleotides in vertebrate genomes , 1989, Human Genetics.

[35]  J. Hoeijmakers Genome maintenance mechanisms for preventing cancer , 2001, Nature.

[36]  J. Crow The origins, patterns and implications of human spontaneous mutation , 2000, Nature Reviews Genetics.

[37]  T. Lindahl,et al.  Quality control by DNA repair. , 1999, Science.

[38]  J. McCarrey,et al.  Mutation frequency declines during spermatogenesis in young mice but increases in old mice. , 1998, Proceedings of the National Academy of Sciences of the United States of America.

[39]  J. Drost,et al.  Biological basis of germline mutation: Comparisons of spontaneous germline mutation rates among drosophila, mouse, and human , 1995, Environmental and molecular mutagenesis.

[40]  Ronan O'Rahilly,et al.  Developmental Stages in Human Embryos: Including a Revision of Streeter's Horizons and a Survey of the Carnegie Collection , 1987 .

[41]  J. Haldane,et al.  The mutation rate of the gene for haemophilia, and its segregation ratios in males and females. , 1947, Annals of eugenics.