Rate of de novo mutations and the importance of father’s age to disease risk

[1]  E. Callaway Fathers bequeath more mutations as they age , 2012, Nature.

[2]  Michael F. Walker,et al.  De novo mutations revealed by whole-exome sequencing are strongly associated with autism , 2012, Nature.

[3]  Evan T. Geller,et al.  Patterns and rates of exonic de novo mutations in autism spectrum disorders , 2012, Nature.

[4]  A. Ingason,et al.  Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders , 2012, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

[5]  Bradley P. Coe,et al.  Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations , 2012, Nature.

[6]  Peter D. Keightley,et al.  Rates and Fitness Consequences of New Mutations in Humans , 2012, Genetics.

[7]  Jai Radhakrishnan,et al.  Mutations in Kelch-like 3 and Cullin 3 cause hypertension and electrolyte abnormalities , 2012, Nature.

[8]  H. Stefánsson,et al.  Identification of low-frequency variants associated with gout and serum uric acid levels , 2011, Nature Genetics.

[9]  A. Gylfason,et al.  Mutations in BRIP1 confer high risk of ovarian cancer , 2011, Nature Genetics.

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

[11]  Heidi Ledford Autism linked to hundreds of spontaneous genetic mutations , 2011 .

[12]  Dan M Roden,et al.  A rare variant in MYH6 is associated with high risk of sick sinus syndrome , 2011, Nature Genetics.

[13]  Laurent Mottron,et al.  Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia , 2011, Human Genetics.

[14]  Jianxin Shi,et al.  Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications. , 2011, The American journal of psychiatry.

[15]  M. DePristo,et al.  The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.

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

[17]  M. Lynch Rate, molecular spectrum, and consequences of human mutation , 2010, Proceedings of the National Academy of Sciences.

[18]  Huanming Yang,et al.  Human Y Chromosome Base-Substitution Mutation Rate Measured by Direct Sequencing in a Deep-Rooting Pedigree , 2009, Current Biology.

[19]  Marian Thomson,et al.  Analysis of the genome sequences of three Drosophila melanogaster spontaneous mutation accumulation lines. , 2009, Genome research.

[20]  Richard Durbin,et al.  Sequence analysis Fast and accurate short read alignment with Burrows – Wheeler transform , 2009 .

[21]  Elvira Bramon,et al.  Disruption of the neurexin 1 gene is associated with schizophrenia. , 2009, Human molecular genetics.

[22]  Fikret Erdogan,et al.  Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia. , 2007, Human molecular genetics.

[23]  Bruce Fireman,et al.  Maternal and paternal age and risk of autism spectrum disorders. , 2007, Archives of pediatrics & adolescent medicine.

[24]  D. Gudbjartsson,et al.  Recombination rate and reproductive success in humans , 2004, Nature Genetics.

[25]  Alexey S Kondrashov,et al.  Direct estimates of human per nucleotide mutation rates at 20 loci causing mendelian diseases , 2003, Human mutation.

[26]  D. Malaspina,et al.  Paternal factors and schizophrenia risk: de novo mutations and imprinting. , 2001, Schizophrenia bulletin.

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

[28]  M. Nachman,et al.  Estimate of the mutation rate per nucleotide in humans. , 2000, Genetics.

[29]  Philip J. Farabaugh,et al.  Molecular basis of base substitution hotspots in Escherichia coli , 1978, Nature.