Literature DB >> 32396742

Congenital Heart Defects Due to TAF1 Missense Variants.

Sarah U Morton1,2, Radhika Agarwal3, Jill A Madden4,5, Casie A Genetti4,5, Catherine A Brownstein4,5, Francesc López-Giráldez6, Jungmin Choi7, Christine E Seidman3,8,9, Jonathan G Seidman3, Gholson J Lyon10,11, Pankaj B Agrawal1,2,4,5.   

Abstract

Entities:  

Keywords:  developmental delay disorders; heart defects, congenital; mutations, missense; whole exome sequencing

Mesh：

Substances：

Year:  2020        PMID： 32396742      PMCID： PMC7329268          DOI： 10.1161/CIRCGEN.119.002843

Source DB:  PubMed          Journal:  Circ Genom Precis Med        ISSN： 2574-8300


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  3 in total

1.  De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.

Authors:  Jason Homsy; Samir Zaidi; Yufeng Shen; James S Ware; Kaitlin E Samocha; Konrad J Karczewski; Steven R DePalma; David McKean; Hiroko Wakimoto; Josh Gorham; Sheng Chih Jin; John Deanfield; Alessandro Giardini; George A Porter; Richard Kim; Kaya Bilguvar; Francesc López-Giráldez; Irina Tikhonova; Shrikant Mane; Angela Romano-Adesman; Hongjian Qi; Badri Vardarajan; Lijiang Ma; Mark Daly; Amy E Roberts; Mark W Russell; Seema Mital; Jane W Newburger; J William Gaynor; Roger E Breitbart; Ivan Iossifov; Michael Ronemus; Stephan J Sanders; Jonathan R Kaltman; Jonathan G Seidman; Martina Brueckner; Bruce D Gelb; Elizabeth Goldmuntz; Richard P Lifton; Christine E Seidman; Wendy K Chung
Journal:  Science       Date:  2015-12-04       Impact factor: 47.728

2.  Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.

Authors:  Hanyin Cheng; Simona Capponi; Emma Wakeling; Elaine Marchi; Quan Li; Mengge Zhao; Chunhua Weng; Piatek G Stefan; Helena Ahlfors; Robert Kleyner; Alan Rope; Aimé Lumaka; Prosper Lukusa; Koenraad Devriendt; Joris Vermeesch; Jennifer E Posey; Elizabeth E Palmer; Lucinda Murray; Eyby Leon; Jullianne Diaz; Lisa Worgan; Amalia Mallawaarachchi; Julie Vogt; Sonja A de Munnik; Lauren Dreyer; Gareth Baynam; Lisa Ewans; Zornitza Stark; Sebastian Lunke; Ana R Gonçalves; Gabriela Soares; Jorge Oliveira; Emily Fassi; Marcia Willing; Jeff L Waugh; Laurence Faivre; Jean-Baptiste Riviere; Sebastien Moutton; Shehla Mohammed; Katelyn Payne; Laurence Walsh; Amber Begtrup; Maria J Guillen Sacoto; Ganka Douglas; Nora Alexander; Michael F Buckley; Paul R Mark; Lesley C Adès; Sarah A Sandaradura; James R Lupski; Tony Roscioli; Pankaj B Agrawal; Antonie D Kline; Kai Wang; H T Marc Timmers; Gholson J Lyon
Journal:  Hum Mutat       Date:  2019-10-23       Impact factor: 4.878

3.  CADD: predicting the deleteriousness of variants throughout the human genome.

Authors:  Philipp Rentzsch; Daniela Witten; Gregory M Cooper; Jay Shendure; Martin Kircher
Journal:  Nucleic Acids Res       Date:  2019-01-08       Impact factor: 16.971
  3 in total
  3 in total

1.  SOX7 loss-of-function variation as a cause of familial congenital heart disease.

Authors:  Ri-Tai Huang; Yu-Han Guo; Chen-Xi Yang; Jia-Ning Gu; Xing-Biao Qiu; Hong-Yu Shi; Ying-Jia Xu; Song Xue; Yi-Qing Yang
Journal:  Am J Transl Res       Date:  2022-03-15       Impact factor: 4.060

2.  Identification of SOX18 as a New Gene Predisposing to Congenital Heart Disease.

Authors:  Hong-Yu Shi; Meng-Shi Xie; Chen-Xi Yang; Ri-Tai Huang; Song Xue; Xing-Yuan Liu; Ying-Jia Xu; Yi-Qing Yang
Journal:  Diagnostics (Basel)       Date:  2022-08-08

3.  Massively parallel in vivo CRISPR screening identifies RNF20/40 as epigenetic regulators of cardiomyocyte maturation.

Authors:  Nathan J VanDusen; Julianna Y Lee; Weiliang Gu; Catalina E Butler; Isha Sethi; Yanjiang Zheng; Justin S King; Pingzhu Zhou; Shengbao Suo; Yuxuan Guo; Qing Ma; Guo-Cheng Yuan; William T Pu
Journal:  Nat Commun       Date:  2021-07-21       Impact factor: 17.694
  3 in total

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