Literature DB >> 29789687

First-line genomic diagnosis of mitochondrial disorders.

F Lucy Raymond1,2,3, Rita Horvath4, Patrick F Chinnery5,6.   

Abstract

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Year:  2018        PMID: 29789687     DOI: 10.1038/s41576-018-0022-1

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN: 1471-0056            Impact factor:   53.242


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  12 in total

1.  Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing.

Authors:  Lauren S Akesson; Stefanie Eggers; Clare J Love; Belinda Chong; Emma I Krzesinski; Natasha J Brown; Tiong Y Tan; Christopher M Richmond; David R Thorburn; John Christodoulou; Matthew F Hunter; Sebastian Lunke; Zornitza Stark
Journal:  Eur J Hum Genet       Date:  2019-07-29       Impact factor: 4.246

Review 2.  Molecular and neurological features of MELAS syndrome in paediatric patients: A case series and review of the literature.

Authors:  Lydia M Seed; Andrew Dean; Deepa Krishnakumar; Poe Phyu; Rita Horvath; Pooja Devi Harijan
Journal:  Mol Genet Genomic Med       Date:  2022-04-26       Impact factor: 2.473

Review 3.  Next-generation sequencing in Charcot-Marie-Tooth disease: opportunities and challenges.

Authors:  Menelaos Pipis; Alexander M Rossor; Matilde Laura; Mary M Reilly
Journal:  Nat Rev Neurol       Date:  2019-10-03       Impact factor: 42.937

Review 4.  Applying genomic and transcriptomic advances to mitochondrial medicine.

Authors:  William L Macken; Jana Vandrovcova; Michael G Hanna; Robert D S Pitceathly
Journal:  Nat Rev Neurol       Date:  2021-02-23       Impact factor: 42.937

Review 5.  Recent advances in understanding the molecular genetic basis of mitochondrial disease.

Authors:  Kyle Thompson; Jack J Collier; Ruth I C Glasgow; Fiona M Robertson; Angela Pyle; Emma L Blakely; Charlotte L Alston; Monika Oláhová; Robert McFarland; Robert W Taylor
Journal:  J Inherit Metab Dis       Date:  2019-05-10       Impact factor: 4.750

Review 6.  Update Review about Metabolic Myopathies.

Authors:  Josef Finsterer
Journal:  Life (Basel)       Date:  2020-04-17

7.  Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment.

Authors:  Irene Bravo-Alonso; Rosa Navarrete; Ana Isabel Vega; Pedro Ruíz-Sala; María Teresa García Silva; Elena Martín-Hernández; Pilar Quijada-Fraile; Amaya Belanger-Quintana; Sinziana Stanescu; María Bueno; Isidro Vitoria; Laura Toledo; María Luz Couce; Inmaculada García-Jiménez; Ricardo Ramos-Ruiz; Miguel Ángel Martín; Lourdes R Desviat; Magdalena Ugarte; Celia Pérez-Cerdá; Begoña Merinero; Belén Pérez; Pilar Rodríguez-Pombo
Journal:  J Clin Med       Date:  2019-11-01       Impact factor: 4.241

8.  A benchmarking of human mitochondrial DNA haplogroup classifiers from whole-genome and whole-exome sequence data.

Authors:  Víctor García-Olivares; Adrián Muñoz-Barrera; José M Lorenzo-Salazar; Carlos Zaragoza-Trello; Luis A Rubio-Rodríguez; Ana Díaz-de Usera; David Jáspez; Antonio Iñigo-Campos; Rafaela González-Montelongo; Carlos Flores
Journal:  Sci Rep       Date:  2021-10-15       Impact factor: 4.379

9.  Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.

Authors:  Katherine R Schon; Rita Horvath; Wei Wei; Claudia Calabrese; Arianna Tucci; Kristina Ibañez; Thiloka Ratnaike; Robert D S Pitceathly; Enrico Bugiardini; Rosaline Quinlivan; Michael G Hanna; Emma Clement; Emma Ashton; John A Sayer; Paul Brennan; Dragana Josifova; Louise Izatt; Carl Fratter; Victoria Nesbitt; Timothy Barrett; Dominic J McMullen; Audrey Smith; Charulata Deshpande; Sarah F Smithson; Richard Festenstein; Natalie Canham; Mark Caulfield; Henry Houlden; Shamima Rahman; Patrick F Chinnery
Journal:  BMJ       Date:  2021-11-03

10.  Epigenetic clock and DNA methylation analysis of porcine models of aging and obesity.

Authors:  Kyle M Schachtschneider; Lawrence B Schook; Jennifer J Meudt; Dhanansayan Shanmuganayagam; Joseph A Zoller; Amin Haghani; Caesar Z Li; Joshua Zhang; Andrew Yang; Ken Raj; Steve Horvath
Journal:  Geroscience       Date:  2021-09-15       Impact factor: 7.713

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