Literature DB >> 27463396

Decoding germline de novo point mutations.

Anne Goriely1.   

Abstract

Analysis of a large whole-genome sequencing data set of 36,441 high-quality de novo mutations (DNMs) that arose in 816 family trios provides an unprecedented view into the landscape of DNMs in the germ line. This work both refines and challenges some of the views previously held on the nature and origin of DNMs.

Mesh：

Year:  2016        PMID： 27463396     DOI： 10.1038/ng.3629

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  9 in total

Review 1.  The origins, patterns and implications of human spontaneous mutation.

Authors:  J F Crow
Journal:  Nat Rev Genet       Date:  2000-10       Impact factor: 53.242

Review 2.  Mechanisms underlying mutational signatures in human cancers.

Authors:  Thomas Helleday; Saeed Eshtad; Serena Nik-Zainal
Journal:  Nat Rev Genet       Date:  2014-07-01       Impact factor: 53.242

3.  Parent-of-origin-specific signatures of de novo mutations.

Authors:  Jakob M Goldmann; Wendy S W Wong; Michele Pinelli; Terry Farrah; Dale Bodian; Anna B Stittrich; Gustavo Glusman; Lisenka E L M Vissers; Alexander Hoischen; Jared C Roach; Joseph G Vockley; Joris A Veltman; Benjamin D Solomon; Christian Gilissen; John E Niederhuber
Journal:  Nat Genet       Date:  2016-06-20       Impact factor: 38.330

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

Review 5.  Cancer genome landscapes.

Authors:  Bert Vogelstein; Nickolas Papadopoulos; Victor E Velculescu; Shibin Zhou; Luis A Diaz; Kenneth W Kinzler
Journal:  Science       Date:  2013-03-29       Impact factor: 47.728

6.  Genome-wide patterns and properties of de novo mutations in humans.

Authors:  Laurent C Francioli; Paz P Polak; Amnon Koren; Androniki Menelaou; Sung Chun; Ivo Renkens; Cornelia M van Duijn; Morris Swertz; Cisca Wijmenga; Gertjan van Ommen; P Eline Slagboom; Dorret I Boomsma; Kai Ye; Victor Guryev; Peter F Arndt; Wigard P Kloosterman; Paul I W de Bakker; Shamil R Sunyaev
Journal:  Nat Genet       Date:  2015-05-18       Impact factor: 38.330

7.  Rate of de novo mutations and the importance of father's age to disease risk.

Authors:  Augustine Kong; Michael L Frigge; Gisli Masson; Soren Besenbacher; Patrick Sulem; Gisli Magnusson; Sigurjon A Gudjonsson; Asgeir Sigurdsson; Aslaug Jonasdottir; Adalbjorg Jonasdottir; Wendy S W Wong; Gunnar Sigurdsson; G Bragi Walters; Stacy Steinberg; Hannes Helgason; Gudmar Thorleifsson; Daniel F Gudbjartsson; Agnar Helgason; Olafur Th Magnusson; Unnur Thorsteinsdottir; Kari Stefansson
Journal:  Nature       Date:  2012-08-23       Impact factor: 49.962

8.  Timing, rates and spectra of human germline mutation.

Authors:  Raheleh Rahbari; Arthur Wuster; Sarah J Lindsay; Robert J Hardwick; Ludmil B Alexandrov; Saeed Al Turki; Anna Dominiczak; Andrew Morris; David Porteous; Blair Smith; Michael R Stratton; Matthew E Hurles
Journal:  Nat Genet       Date:  2015-12-14       Impact factor: 38.330

9.  Interpreting the Dependence of Mutation Rates on Age and Time.

Authors:  Ziyue Gao; Minyoung J Wyman; Guy Sella; Molly Przeworski
Journal:  PLoS Biol       Date:  2016-01-13       Impact factor: 8.029
  9 in total
  11 in total

1.  A de novo pathogenic variant in the MSH6 gene in a 52 years-old woman.

Authors:  Elise Pierre-Noël; Fabrice Airaud; Estelle Cauchin; Céline Garrec; Ingrid Ricordeau; Clémence Michon; Olivier Kerdraon; Stéphane Bezieau; Caroline Abadie
Journal:  Fam Cancer       Date:  2021-09-14       Impact factor: 2.446

2.  Sperm epigenetic clock associates with pregnancy outcomes in the general population.

Authors:  J Richard Pilsner; Hachem Saddiki; Brian W Whitcomb; Alexander Suvorov; Germaine M Buck Louis; Sunni L Mumford; Enrique F Schisterman; Oladele A Oluwayiose; Laura B Balzer
Journal:  Hum Reprod       Date:  2022-06-30       Impact factor: 6.353

3.  Reproductive Longevity Predicts Mutation Rates in Primates.

Authors:  Gregg W C Thomas; Richard J Wang; Arthi Puri; R Alan Harris; Muthuswamy Raveendran; Daniel S T Hughes; Shwetha C Murali; Lawrence E Williams; Harsha Doddapaneni; Donna M Muzny; Richard A Gibbs; Christian R Abee; Mary R Galinski; Kim C Worley; Jeffrey Rogers; Predrag Radivojac; Matthew W Hahn
Journal:  Curr Biol       Date:  2018-09-27       Impact factor: 10.834

Review 4.  Advanced paternal age and risk of schizophrenia in offspring - Review of epidemiological findings and potential mechanisms.

Authors:  Vahe Khachadourian; Nina Zaks; Emma Lin; Abraham Reichenberg; Magdalena Janecka
Journal:  Schizophr Res       Date:  2021-07-06       Impact factor: 4.662

Review 5.  New insights into the generation and role of de novo mutations in health and disease.

Authors:  Rocio Acuna-Hidalgo; Joris A Veltman; Alexander Hoischen
Journal:  Genome Biol       Date:  2016-11-28       Impact factor: 13.583

6.  Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline.

Authors:  Eleni Giannoulatou; Geoffrey J Maher; Zhihao Ding; Ad J M Gillis; Lambert C J Dorssers; Alexander Hoischen; Ewa Rajpert-De Meyts; Gilean McVean; Andrew O M Wilkie; Leendert H J Looijenga; Anne Goriely
Journal:  PLoS One       Date:  2017-05-22       Impact factor: 3.240

7.  Overlooked roles of DNA damage and maternal age in generating human germline mutations.

Authors:  Ziyue Gao; Priya Moorjani; Thomas A Sasani; Brent S Pedersen; Aaron R Quinlan; Lynn B Jorde; Guy Amster; Molly Przeworski
Journal:  Proc Natl Acad Sci U S A       Date:  2019-04-24       Impact factor: 11.205

8.  One NF1 Mutation may Conceal Another.

Authors:  Laurence Pacot; Cyril Burin des Roziers; Ingrid Laurendeau; Audrey Briand-Suleau; Audrey Coustier; Théodora Mayard; Camille Tlemsani; Laurence Faivre; Quentin Thomas; Diana Rodriguez; Sophie Blesson; Hélène Dollfus; Yvon-Gauthier Muller; Béatrice Parfait; Michel Vidaud; Brigitte Gilbert-Dussardier; Catherine Yardin; Benjamin Dauriat; Christian Derancourt; Dominique Vidaud; Eric Pasmant
Journal:  Genes (Basel)       Date:  2019-08-22       Impact factor: 4.096

Review 9.  Advanced paternal age effects in neurodevelopmental disorders-review of potential underlying mechanisms.

Authors:  M Janecka; J Mill; M A Basson; A Goriely; H Spiers; A Reichenberg; L Schalkwyk; C Fernandes
Journal:  Transl Psychiatry       Date:  2017-01-31       Impact factor: 6.222

10.  A germ cell-specific ageing pattern in otherwise healthy men.

Authors:  Sandra Laurentino; Jann-Frederik Cremers; Bernhard Horsthemke; Frank Tüttelmann; Karen Czeloth; Michael Zitzmann; Eva Pohl; Sven Rahmann; Christopher Schröder; Sven Berres; Klaus Redmann; Claudia Krallmann; Stefan Schlatt; Sabine Kliesch; Jörg Gromoll
Journal:  Aging Cell       Date:  2020-09-20       Impact factor: 9.304
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