Literature DB >> 27940446

The 100 000 Genomes Project: What it means for paediatrics.

Blanche H Griffin1, Lyn S Chitty1,2, Maria Bitner-Glindzicz1,2.   

Abstract

Keywords:  Genetics; Syndrome; diagnosis; rare disease,

Mesh：

Year:  2016        PMID： 27940446     DOI： 10.1136/archdischild-2016-311029

Source DB:  PubMed          Journal:  Arch Dis Child Educ Pract Ed        ISSN： 1743-0585            Impact factor:   1.309


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  6 in total

Review 1.  The frontiers of sequencing in undiagnosed neurodevelopmental diseases.

Authors:  Hane Lee; Stanley F Nelson
Journal:  Curr Opin Genet Dev       Date:  2020-06-27       Impact factor: 5.578

2.  Mixed-methods evaluation of the NHS Genomic Medicine Service for paediatric rare diseases: study protocol [version 1; peer review: 2 approved, 2 approved with reservations].

Authors:  Celine Lewis; James Buchannan; Angus Clarke; Emma Clement; Bettina Friedrich; Jillian Hastings-Ward; Melissa Hill; Ruth Horn; Anneke M Lucassen; Chris Patch; Alexandra Pickard; Lauren Roberts; Saskia C Sanderson; Sarah L Lewell; Cecilia Vindrola-Padros; Monica Lakhanpaul
Journal:  NIHR Open Res       Date:  2021-11-22

Review 3.  The Project Baseline Health Study: a step towards a broader mission to map human health.

Authors:  Kristine Arges; Themistocles Assimes; Vikram Bajaj; Suresh Balu; Mustafa R Bashir; Laura Beskow; Rosalia Blanco; Robert Califf; Paul Campbell; Larry Carin; Victoria Christian; Scott Cousins; Millie Das; Marie Dockery; Pamela S Douglas; Ashley Dunham; Julie Eckstrand; Dominik Fleischmann; Emily Ford; Elizabeth Fraulo; John French; Sanjiv S Gambhir; Geoffrey S Ginsburg; Robert C Green; Francois Haddad; Adrian Hernandez; John Hernandez; Erich S Huang; Glenn Jaffe; Daniel King; Lynne H Koweek; Curtis Langlotz; Yaping J Liao; Kenneth W Mahaffey; Kelly Marcom; William J Marks; David Maron; Reid McCabe; Shannon McCall; Rebecca McCue; Jessica Mega; David Miller; Lawrence H Muhlbaier; Rajan Munshi; L Kristin Newby; Ezra Pak-Harvey; Bray Patrick-Lake; Michael Pencina; Eric D Peterson; Fatima Rodriguez; Scarlet Shore; Svati Shah; Steven Shipes; George Sledge; Susie Spielman; Ryan Spitler; Terry Schaack; Geeta Swamy; Martin J Willemink; Charlene A Wong
Journal:  NPJ Digit Med       Date:  2020-06-05

4.  Development of a measure of genome sequencing knowledge for young people: The kids-KOGS.

Authors:  Celine Lewis; Bao S Loe; Chris Sidey-Gibbons; Christine Patch; Lyn S Chitty; Saskia C Sanderson
Journal:  Clin Genet       Date:  2019-07-30       Impact factor: 4.438

5.  One byte at a time: evidencing the quality of clinical service next-generation sequencing for germline and somatic variants.

Authors:  Maria Weronika Gutowska-Ding; Zandra C Deans; Christophe Roos; Jukka Matilainen; Farrah Khawaja; Kim Brügger; Jo Wook Ahn; Christopher Boustred; Simon J Patton
Journal:  Eur J Hum Genet       Date:  2019-09-30       Impact factor: 4.246

6.  Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children.

Authors:  Lamia Mestek-Boukhibar; Emma Clement; Wendy D Jones; Suzanne Drury; Louise Ocaka; Andrey Gagunashvili; Polona Le Quesne Stabej; Chiara Bacchelli; Nital Jani; Shamima Rahman; Lucy Jenkins; Jane A Hurst; Maria Bitner-Glindzicz; Mark Peters; Philip L Beales; Hywel J Williams
Journal:  J Med Genet       Date:  2018-07-26       Impact factor: 6.318
  6 in total

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