Literature DB >> 29097506

Clinical Utility of Transcriptome Sequencing: Toward a Better Diagnosis for Mendelian Disorders.

Samya Chakravorty1, Madhuri Hegde2.   

Abstract

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Year:  2017        PMID: 29097506     DOI: 10.1373/clinchem.2017.276980

Source DB:  PubMed          Journal:  Clin Chem        ISSN: 0009-9147            Impact factor:   8.327


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  4 in total

Review 1.  Transcriptome analysis provides critical answers to the "variants of uncertain significance" conundrum.

Authors:  Mackenzie D Postel; Julie O Culver; Charité Ricker; David W Craig
Journal:  Hum Mutat       Date:  2022-05-18       Impact factor: 4.700

2.  Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.

Authors:  Sateesh Maddirevula; Hiroyuki Kuwahara; Nour Ewida; Hanan E Shamseldin; Nisha Patel; Fatema Alzahrani; Tarfa AlSheddi; Eman AlObeid; Mona Alenazi; Hessa S Alsaif; Maha Alqahtani; Maha AlAli; Hatoon Al Ali; Rana Helaby; Niema Ibrahim; Firdous Abdulwahab; Mais Hashem; Nadine Hanna; Dorota Monies; Nada Derar; Afaf Alsagheir; Amal Alhashem; Badr Alsaleem; Hamoud Alhebbi; Sami Wali; Ramzan Umarov; Xin Gao; Fowzan S Alkuraya
Journal:  Genome Biol       Date:  2020-06-17       Impact factor: 13.583

3.  Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.

Authors:  Babi Ramesh Reddy Nallamilli; Samya Chakravorty; Akanchha Kesari; Alice Tanner; Arunkanth Ankala; Thomas Schneider; Cristina da Silva; Randall Beadling; John J Alexander; Syed Hussain Askree; Zachary Whitt; Lora Bean; Christin Collins; Satish Khadilkar; Pradnya Gaitonde; Rashna Dastur; Matthew Wicklund; Tahseen Mozaffar; Matthew Harms; Laura Rufibach; Plavi Mittal; Madhuri Hegde
Journal:  Ann Clin Transl Neurol       Date:  2018-12-01       Impact factor: 4.511

4.  Validation of the Pathogenic Effect of IGHMBP2 Gene Mutations Based on Yeast S. cerevisiae Model.

Authors:  Weronika Rzepnikowska; Joanna Kaminska; Andrzej Kochański
Journal:  Int J Mol Sci       Date:  2022-08-31       Impact factor: 6.208

  4 in total

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