Literature DB >> 24876929

Lessons from next-generation sequencing in genetic skeletal disorders.

Maria L Brandi1.   

Abstract

Entities:  

Year:  2014        PMID： 24876929      PMCID： PMC4037877          DOI： 10.1038/bonekey.2014.23

Source DB:  PubMed          Journal:  Bonekey Rep        ISSN： 2047-6396


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  19 in total

Review 1.  The impact of next-generation sequencing on genomics.

Authors:  Jun Zhang; Rod Chiodini; Ahmed Badr; Genfa Zhang
Journal:  J Genet Genomics       Date:  2011-03-15       Impact factor: 4.275

Review 2.  Disease-targeted sequencing: a cornerstone in the clinic.

Authors:  Heidi L Rehm
Journal:  Nat Rev Genet       Date:  2013-03-12       Impact factor: 53.242

Review 3.  A brilliant breakthrough in OI type V.

Authors:  S Lazarus; P Moffatt; E L Duncan; G P Thomas
Journal:  Osteoporos Int       Date:  2013-09-13       Impact factor: 4.507

Review 4.  Hypophosphatasia.

Authors:  Etienne Mornet
Journal:  Best Pract Res Clin Rheumatol       Date:  2008-03       Impact factor: 4.098

Review 5.  Unlocking Mendelian disease using exome sequencing.

Authors:  Christian Gilissen; Alexander Hoischen; Han G Brunner; Joris A Veltman
Journal:  Genome Biol       Date:  2011-09-14       Impact factor: 13.583

Review 6.  Nosology and classification of genetic skeletal disorders: 2010 revision.

Authors:  Matthew L Warman; Valerie Cormier-Daire; Christine Hall; Deborah Krakow; Ralph Lachman; Martine LeMerrer; Geert Mortier; Stefan Mundlos; Gen Nishimura; David L Rimoin; Stephen Robertson; Ravi Savarirayan; David Sillence; Juergen Spranger; Sheila Unger; Bernhard Zabel; Andrea Superti-Furga
Journal:  Am J Med Genet A       Date:  2011-03-15       Impact factor: 2.802

7.  EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.

Authors:  Fleur S van Dijk; Peter H Byers; Raymond Dalgleish; Fransiska Malfait; Alessandra Maugeri; Marianne Rohrbach; Sofie Symoens; Erik A Sistermans; Gerard Pals
Journal:  Eur J Hum Genet       Date:  2011-08-10       Impact factor: 4.246

8.  Exome sequencing identified new mutations in a Marfan syndrome family.

Authors:  Guangxin Li; Jian Yu; Kun Wang; Bin Wang; Minghai Wang; Shuguang Zhang; Shiyong Qin; Zhenhai Yu
Journal:  Diagn Pathol       Date:  2014-01-31       Impact factor: 2.644

9.  Next-generation sequencing for disorders of low and high bone mineral density.

Authors:  G Sule; P M Campeau; V W Zhang; S C S Nagamani; B C Dawson; M Grover; C A Bacino; V R Sutton; N Brunetti-Pierri; J T Lu; E Lemire; R A Gibbs; D H Cohn; H Cui; L-J Wong; B H Lee
Journal:  Osteoporos Int       Date:  2013-02-27       Impact factor: 4.507

10.  The birth of the Epitranscriptome: deciphering the function of RNA modifications.

Authors:  Yogesh Saletore; Kate Meyer; Jonas Korlach; Igor D Vilfan; Samie Jaffrey; Christopher E Mason
Journal:  Genome Biol       Date:  2012-10-31       Impact factor: 13.583
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