Literature DB >> 31051109

Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.

Hernan D Gonorazky, Sergey Naumenko, Arun K Ramani, Viswateja Nelakuditi, Pouria Mashouri, Peiqui Wang, Dennis Kao, Krish Ohri, Senthuri Viththiyapaskaran, Mark A Tarnopolsky, Katherine D Mathews, Steven A Moore, Andres N Osorio, David Villanova, Dwi U Kemaladewi, Ronald D Cohn, Michael Brudno, James J Dowling.   

Abstract

Entities:  

Year:  2019        PMID： 31051109      PMCID： PMC6507041          DOI： 10.1016/j.ajhg.2019.04.004

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


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  16 in total

1.  Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing.

Authors:  David R Murdock; Hongzheng Dai; Lindsay C Burrage; Jill A Rosenfeld; Shamika Ketkar; Michaela F Müller; Vicente A Yépez; Julien Gagneur; Pengfei Liu; Shan Chen; Mahim Jain; Gladys Zapata; Carlos A Bacino; Hsiao-Tuan Chao; Paolo Moretti; William J Craigen; Neil A Hanchard; Brendan Lee
Journal:  J Clin Invest       Date:  2021-01-04       Impact factor: 14.808

2.  A Deep Intronic Variant Activates a Pseudoexon in the MTM1 Gene in a Family with X-Linked Myotubular Myopathy.

Authors:  Jamie Fitzgerald; Cori Feist; Paula Dietz; Stephen Moore; Donald Basel
Journal:  Mol Syndromol       Date:  2020-09-16

3.  A novel, de novo intronic variant in POGZ causes White-Sutton syndrome.

Authors:  Ashanta Merriweather; David R Murdock; Jill A Rosenfeld; Hongzheng Dai; Shamika Ketkar; Lisa Emrick; Sarah Nicholas; Richard A Lewis; Carlos A Bacino; Daryl A Scott; Brendan Lee; Vernon Reid Sutton; Lorraine Potocki; Lindsay C Burrage
Journal:  Am J Med Genet A       Date:  2022-04-09       Impact factor: 2.578

Review 4.  [Application of RNA sequencing in clinical diagnosis of Mendelian disease].

Authors:  Hui Xiao; Wen-Hao Zhou
Journal:  Zhongguo Dang Dai Er Ke Za Zhi       Date:  2020-10

5.  A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58.

Authors:  Karina Lezirovitz; Gleiciele A Vieira-Silva; Ana C Batissoco; Débora Levy; Joao P Kitajima; Alix Trouillet; Ellen Ouyang; Navid Zebarjadi; Juliana Sampaio-Silva; Vinicius Pedroso-Campos; Larissa R Nascimento; Cindy Y Sonoda; Vinícius M Borges; Laura G Vasconcelos; Roberto M O Beck; Signe S Grasel; Daniel J Jagger; Nicolas Grillet; Ricardo F Bento; Regina C Mingroni-Netto; Jeanne Oiticica
Journal:  Hum Mol Genet       Date:  2020-06-03       Impact factor: 6.150

6.  Whole-Transcriptome Analysis by RNA Sequencing for Genetic Diagnosis of Mendelian Skin Disorders in the Context of Consanguinity.

Authors:  Leila Youssefian; Amir Hossein Saeidian; Fahimeh Palizban; Atefeh Bagherieh; Fahimeh Abdollahimajd; Soheila Sotoudeh; Nikoo Mozafari; Rahele A Farahani; Hamidreza Mahmoudi; Sadegh Babashah; Masoud Zabihi; Sirous Zeinali; Paolo Fortina; Julio C Salas-Alanis; Andrew P South; Hassan Vahidnezhad; Jouni Uitto
Journal:  Clin Chem       Date:  2021-06-01       Impact factor: 8.327

7.  A Cross-Sectional Study of Nemaline Myopathy.

Authors:  Kimberly Amburgey; Meryl Acker; Samia Saeed; Reshma Amin; Alan H Beggs; Carsten G Bönnemann; Michael Brudno; Andrei Constantinescu; Jahannaz Dastgir; Mamadou Diallo; Casie A Genetti; Michael Glueck; Stacy Hewson; Courtney Hum; Minal S Jain; Michael W Lawlor; Oscar H Meyer; Leslie Nelson; Nicole Sultanum; Faiza Syed; Tuyen Tran; Ching H Wang; James J Dowling
Journal:  Neurology       Date:  2021-01-04       Impact factor: 9.910

Review 8.  Facilitations and Hurdles of Genetic Testing in Neuromuscular Disorders.

Authors:  Andrea Barp; Lorena Mosca; Valeria Ada Sansone
Journal:  Diagnostics (Basel)       Date:  2021-04-14

9.  Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy.

Authors:  Daniel G Calame; Jawid Fatih; Isabella Herman; Zeynep Coban Akdemir; Haowei Du; Shalini N Jhangiani; Richard A Gibbs; Dana Marafi; Davut Pehlivan; Jennifer E Posey; Timothy Lotze; Pedro Mancias; Meenakshi Bidwai Bhattacharjee; James R Lupski
Journal:  Neurol Genet       Date:  2021-04-26

Review 10.  Molecular and cellular basis of genetically inherited skeletal muscle disorders.

Authors:  James J Dowling; Conrad C Weihl; Melissa J Spencer
Journal:  Nat Rev Mol Cell Biol       Date:  2021-07-13       Impact factor: 94.444
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