NGS: Gestern, heute und morgen-Reference-Cited by-同舟云学术

NGS: Gestern, heute und morgen

Published:2019-06-01 Issue:2 Volume:31 Page:185-190
ISSN:1863-5490
Container-title:Medizinische Genetik
language:en
Short-container-title:

Author:

Bolz Hanno J.¹,Hoischen Alexander²

Affiliation:

1. Aff1 Senckenberg Zentrum für Humangenetik Frankfurt am Main Deutschland

2. Aff2 0000 0004 0444 9382 grid.10417.33 Department of Human Genetics & Department of Internal Medicine, Radboud Institute of Medical Life Sciences Radboud University Medical Center Nijmegen Niederlande

Publisher

Walter de Gruyter GmbH

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s11825-019-0240-8.pdf

Reference62 articles.

1. Funari VA, Krakow D, Nevarez L et al (2010) BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing. Am J Hum Genet 87(4):532–537

2. Rajadhyaksha AM, Elemento O, Puffenberger EG et al (2010) Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. Am J Hum Genet 87(5):643–654

3. Najmabadi H, Hu H, Garshasbi M et al (2011) Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 478(7367):57–63

4. Ng SB, Turner EH, Robertson PD et al (2009) Targeted capture and massively parallel sequencing of 12 human exomes. Nature 461(7261):272–276

5. Hoischen A, van Bon BW, Gilissen C et al (2010) De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet 42(6):483–485

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