Literature DB >> 27667165

A novel pathogenic mutation in RPL11 identified in a patient diagnosed with diamond Blackfan anemia as a young adult.

Anupama Narla1, Daniel Yuan2, Shideh Kazerounian2, Corinne LaVasseur3, Jacob C Ulirsch4, Jyothsna Narla5, Bertil Glader6, Vijay G Sankaran4, Hanna Gazda2.   

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Year:  2016        PMID： 27667165     DOI： 10.1016/j.bcmd.2016.08.001

Source DB:  PubMed          Journal:  Blood Cells Mol Dis        ISSN： 1079-9796            Impact factor:   3.039


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  3 in total

1.  The Genetic Landscape of Diamond-Blackfan Anemia.

Authors:  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
Journal:  Am J Hum Genet       Date:  2018-11-29       Impact factor: 11.025

2.  Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons.

Authors:  Alexandre Bolze; Bertrand Boisson; Barbara Bosch; Alexander Antipenko; Matthieu Bouaziz; Paul Sackstein; Malik Chaker-Margot; Vincent Barlogis; Tracy Briggs; Elena Colino; Aurora C Elmore; Alain Fischer; Ferah Genel; Angela Hewlett; Maher Jedidi; Jadranka Kelecic; Renate Krüger; Cheng-Lung Ku; Dinakantha Kumararatne; Alain Lefevre-Utile; Sam Loughlin; Nizar Mahlaoui; Susanne Markus; Juan-Miguel Garcia; Mathilde Nizon; Matias Oleastro; Malgorzata Pac; Capucine Picard; Andrew J Pollard; Carlos Rodriguez-Gallego; Caroline Thomas; Horst Von Bernuth; Austen Worth; Isabelle Meyts; Maurizio Risolino; Licia Selleri; Anne Puel; Sebastian Klinge; Laurent Abel; Jean-Laurent Casanova
Journal:  Proc Natl Acad Sci U S A       Date:  2018-08-02       Impact factor: 11.205

3.  Loss of coordinated expression between ribosomal and mitochondrial genes revealed by comprehensive characterization of a large family with a rare Mendelian disorder.

Authors:  Brendan Panici; Hosei Nakajima; Colleen M Carlston; Hakan Ozadam; Can Cenik; Elif Sarinay Cenik
Journal:  Genomics       Date:  2021-04-20       Impact factor: 4.310
  3 in total

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