Literature DB >> 32071229

Dietary modification, penetrance, and the origins of congenital malformation.

Greg Gibson1, Kiera Berger2.   

Abstract

Entities:  

Year:  2020        PMID： 32071229      PMCID： PMC7071905          DOI： 10.1073/pnas.2000944117

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN： 0027-8424            Impact factor:   11.205


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  19 in total

1.  A snapshot of some pLI score pitfalls.

Authors:  Alban Ziegler; Estelle Colin; David Goudenège; Dominique Bonneau
Journal:  Hum Mutat       Date:  2019-04-29       Impact factor: 4.878

2.  Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.

Authors:  Laura M Amendola; Gail P Jarvik; Michael C Leo; Heather M McLaughlin; Yassmine Akkari; Michelle D Amaral; Jonathan S Berg; Sawona Biswas; Kevin M Bowling; Laura K Conlin; Greg M Cooper; Michael O Dorschner; Matthew C Dulik; Arezou A Ghazani; Rajarshi Ghosh; Robert C Green; Ragan Hart; Carrie Horton; Jennifer J Johnston; Matthew S Lebo; Aleksandar Milosavljevic; Jeffrey Ou; Christine M Pak; Ronak Y Patel; Sumit Punj; Carolyn Sue Richards; Joseph Salama; Natasha T Strande; Yaping Yang; Sharon E Plon; Leslie G Biesecker; Heidi L Rehm
Journal:  Am J Hum Genet       Date:  2016-05-12       Impact factor: 11.025

3.  NAD deficiency due to environmental factors or gene-environment interactions causes congenital malformations and miscarriage in mice.

Authors:  Hartmut Cuny; Melissa Rapadas; Jessica Gereis; Ella M M A Martin; Rosemary B Kirk; Hongjun Shi; Sally L Dunwoodie
Journal:  Proc Natl Acad Sci U S A       Date:  2020-02-03       Impact factor: 11.205

4.  Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants.

Authors:  Gavin Chapman; Julie L M Moreau; Eddie I P; Justin O Szot; Kavitha R Iyer; Hongjun Shi; Michelle X Yam; Victoria C O'Reilly; Annabelle Enriquez; Joelene A Greasby; Dimuthu Alankarage; Ella M M A Martin; Bernadette C Hanna; Matthew Edwards; Steven Monger; Gillian M Blue; David S Winlaw; Helen E Ritchie; Stuart M Grieve; Eleni Giannoulatou; Duncan B Sparrow; Sally L Dunwoodie
Journal:  Hum Mol Genet       Date:  2020-03-13       Impact factor: 6.150

5.  Potential variance affecting homeotic Ultrabithorax and Antennapedia phenotypes in Drosophila melanogaster.

Authors:  G Gibson; M Wemple; S van Helden
Journal:  Genetics       Date:  1999-03       Impact factor: 4.562

Review 6.  Molecular genetic testing and the future of clinical genomics.

Authors:  Sara Huston Katsanis; Nicholas Katsanis
Journal:  Nat Rev Genet       Date:  2013-06       Impact factor: 53.242

7.  Common genetic variants contribute to risk of rare severe neurodevelopmental disorders.

Authors:  Mari E K Niemi; Hilary C Martin; Daniel L Rice; Giuseppe Gallone; Scott Gordon; Martin Kelemen; Kerrie McAloney; Jeremy McRae; Elizabeth J Radford; Sui Yu; Jozef Gecz; Nicholas G Martin; Caroline F Wright; David R Fitzpatrick; Helen V Firth; Matthew E Hurles; Jeffrey C Barrett
Journal:  Nature       Date:  2018-09-26       Impact factor: 49.962

Review 8.  Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing.

Authors:  Yuan Xue; Arunkanth Ankala; William R Wilcox; Madhuri R Hegde
Journal:  Genet Med       Date:  2014-09-18       Impact factor: 8.822

9.  Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders.

Authors:  Caroline F Wright; Jeremy F McRae; Stephen Clayton; Giuseppe Gallone; Stuart Aitken; Tomas W FitzGerald; Philip Jones; Elena Prigmore; Diana Rajan; Jenny Lord; Alejandro Sifrim; Rosemary Kelsell; Michael J Parker; Jeffrey C Barrett; Matthew E Hurles; David R FitzPatrick; Helen V Firth
Journal:  Genet Med       Date:  2018-01-11       Impact factor: 8.822

10.  Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

Authors:  Caroline F Wright; Ben West; Marcus Tuke; Samuel E Jones; Kashyap Patel; Thomas W Laver; Robin N Beaumont; Jessica Tyrrell; Andrew R Wood; Timothy M Frayling; Andrew T Hattersley; Michael N Weedon
Journal:  Am J Hum Genet       Date:  2019-01-18       Impact factor: 11.025
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  1 in total

1.  Association and Interaction Effect of BHMT Gene Polymorphisms and Maternal Dietary Habits with Ventricular Septal Defect in Offspring.

Authors:  Manjun Luo; Tingting Wang; Peng Huang; Senmao Zhang; Xinli Song; Mengting Sun; Yiping Liu; Jianhui Wei; Jing Shu; Taowei Zhong; Qian Chen; Ping Zhu; Jiabi Qin
Journal:  Nutrients       Date:  2022-07-28       Impact factor: 6.706
  1 in total

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