Literature DB >> 33545028

The diagnostic odyssey: our family's story.

Danny Miller1.   

Abstract

Danny is the father of two boys with MEPAN syndrome and a member of Global Genes' RARE Foundation Alliance Leadership Council.
Copyright © 2021.

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Year:  2021        PMID： 33545028      PMCID： PMC8175868          DOI： 10.1016/j.ajhg.2021.01.003

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


  3 in total

1.  MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.

Authors:  Gali Heimer; Juha M Kerätär; Lisa G Riley; Shanti Balasubramaniam; Eran Eyal; Laura P Pietikäinen; J Kalervo Hiltunen; Dina Marek-Yagel; Jeffrey Hamada; Allison Gregory; Caleb Rogers; Penelope Hogarth; Martha A Nance; Nechama Shalva; Alvit Veber; Michal Tzadok; Andreea Nissenkorn; Davide Tonduti; Florence Renaldo; Ichraf Kraoua; Celeste Panteghini; Lorella Valletta; Barbara Garavaglia; Mark J Cowley; Velimir Gayevskiy; Tony Roscioli; Jonathon M Silberstein; Chen Hoffmann; Annick Raas-Rothschild; Valeria Tiranti; Yair Anikster; John Christodoulou; Alexander J Kastaniotis; Bruria Ben-Zeev; Susan J Hayflick
Journal:  Am J Hum Genet       Date:  2016-11-03       Impact factor: 11.025

2.  A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants.

Authors:  Julie A Cakici; David P Dimmock; Sara A Caylor; Mary Gaughran; Christina Clarke; Cynthia Triplett; Michelle M Clark; Stephen F Kingsmore; Cinnamon S Bloss
Journal:  Am J Hum Genet       Date:  2020-11-05       Impact factor: 11.025

3.  The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.

Authors:  Lisa G Riley; Mark J Cowley; Velimir Gayevskiy; Andre E Minoche; Clare Puttick; David R Thorburn; Rocio Rius; Alison G Compton; Minal J Menezes; Kaustuv Bhattacharya; David Coman; Carolyn Ellaway; Ian E Alexander; Louisa Adams; Maina Kava; Jacqui Robinson; Carolyn M Sue; Shanti Balasubramaniam; John Christodoulou
Journal:  Genet Med       Date:  2020-04-21       Impact factor: 8.822
  3 in total
  2 in total

1.  Why rare disease needs precision medicine-and precision medicine needs rare disease.

Authors:  Matthew Might; Andrew B Crouse
Journal:  Cell Rep Med       Date:  2022-02-15

Review 2.  DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research.

Authors:  Julia Foreman; Simon Brent; Daniel Perrett; Andrew P Bevan; Sarah E Hunt; Fiona Cunningham; Matthew E Hurles; Helen V Firth
Journal:  Hum Mutat       Date:  2022-02-21       Impact factor: 4.700
  2 in total

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