Literature DB >> 30735661

The Genetic Landscape of Diamond-Blackfan Anemia.

Jacob C Ulirsch, Jeffrey M Verboon, Shideh Kazerounian, Michael H Guo, Daniel Yuan, Leif S Ludwig, Robert E Handsaker, Nour J Abdulhay, Claudia Fiorini, Giulio Genovese, Elaine T Lim, Aaron Cheng, Beryl B Cummings, Katherine R Chao, Alan H Beggs, Casie A Genetti, Colin A Sieff, Peter E Newburger, Edyta Niewiadomska, Michal Matysiak, Adrianna Vlachos, Jeffrey M Lipton, Eva Atsidaftos, Bertil Glader, Anupama Narla, Pierre-Emmanuel Gleizes, Marie-Françoise O'Donohue, Nathalie Montel-Lehry, David J Amor, Steven A McCarroll, Anne H O'Donnell-Luria, Namrata Gupta, Stacey B Gabriel, Daniel G MacArthur, Eric S Lander, Monkol Lek, Lydie Da Costa, David G Nathan, Andrei A Korostelev, Ron Do, Vijay G Sankaran, Hanna T Gazda.   

Abstract

Entities:  

Year:  2019        PMID： 30735661      PMCID： PMC6372259          DOI： 10.1016/j.ajhg.2018.12.011

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  8 in total

1.  Novel variants in Iranian individuals suspected to have inherited red blood cell disorders, including bone marrow failure syndromes.

Authors:  Maryam Neishabury; Maghsood Mehri; Zohreh Fattahi; Hossein Najmabadi; Azita Azarkeivan
Journal:  Haematologica       Date:  2019-05-16       Impact factor: 9.941

2.  Diamond-Blackfan anemia.

Authors:  Lydie M Da Costa; Isabelle Marie; Thierry M Leblanc
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2021-12-10

3.  Human mutational constraint as a tool to understand biology of rare and emerging bone marrow failure syndromes.

Authors:  Joseph H Oved; Daria V Babushok; Michele P Lambert; Nicole Wolfset; M Anna Kowalska; Mortimer Poncz; Konrad J Karczewski; Timothy S Olson
Journal:  Blood Adv       Date:  2020-10-27

4.  Computational Studies of the Structural Basis of Human RPS19 Mutations Associated With Diamond-Blackfan Anemia.

Authors:  Ke An; Jing-Bo Zhou; Yao Xiong; Wei Han; Tao Wang; Zhi-Qiang Ye; Yun-Dong Wu
Journal:  Front Genet       Date:  2021-05-24       Impact factor: 4.599

Review 5.  Nonsense Suppression Therapy: New Hypothesis for the Treatment of Inherited Bone Marrow Failure Syndromes.

Authors:  Valentino Bezzerri; Martina Api; Marisole Allegri; Benedetta Fabrizzi; Seth J Corey; Marco Cipolli
Journal:  Int J Mol Sci       Date:  2020-06-30       Impact factor: 5.923

6.  Slinker: Visualising novel splicing events in RNA-Seq data.

Authors:  Breon Schmidt; Marek Cmero; Paul Ekert; Nadia Davidson; Alicia Oshlack
Journal:  F1000Res       Date:  2021-12-07

7.  Dental considerations in a paediatric patient with Diamond-Blackfan anaemia.

Authors:  Imam Azam; Morankar Rahul; Nitesh Tewari; Kalpana Bansal
Journal:  BMJ Case Rep       Date:  2020-09-14

Review 8.  Early Onset Colorectal Cancer: An Emerging Cancer Risk in Patients with Diamond Blackfan Anemia.

Authors:  Jeffrey M Lipton; Christine L S Molmenti; Pooja Desai; Alexander Lipton; Steven R Ellis; Adrianna Vlachos
Journal:  Genes (Basel)       Date:  2021-12-26       Impact factor: 4.096
  8 in total

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