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Comment
. 2016 Dec;18(12):1325-1326.
doi: 10.1038/gim.2016.62. Epub 2016 Jun 9.

De novo mutations in autosomal recessive congenital malformations

Holly A Black  1 , David Parry  1 , Santosh S Atanur  1 , David Ross  1 , Elaine Rose  1 , Helen Russell  2 , Sarah Stock  3 , Jon Warner  4 , Mary Porteous  4 , Timothy J Aitman  1 , Margaret J Evans  5
Affiliations
Comment

De novo mutations in autosomal recessive congenital malformations

Holly A Black et al. Genet Med. 2016 Dec.
No abstract available

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Comment on

  • Clinical application of whole-exome sequencing across clinical indications.
    Retterer K, Juusola J, Cho MT, Vitazka P, Millan F, Gibellini F, Vertino-Bell A, Smaoui N, Neidich J, Monaghan KG, McKnight D, Bai R, Suchy S, Friedman B, Tahiliani J, Pineda-Alvarez D, Richard G, Brandt T, Haverfield E, Chung WK, Bale S. Retterer K, et al. Genet Med. 2016 Jul;18(7):696-704. doi: 10.1038/gim.2015.148. Epub 2015 Dec 3. Genet Med. 2016. PMID: 26633542

References

    1. Retterer K, Juusola J, Cho MT, et al. Clinical application of whole-exome sequencing across clinical indications. Genet Med; e-pub ahead of print 3 December 2015.
    1. Yang Y, Muzny DM, Xia F. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014;312:1870–1879. doi: 10.1001/jama.2014.14601. - DOI - PMC - PubMed
    1. Deciphering Developmental Disorders Study. Large-scale discovery of novel genetic causes of developmental disorders. Nature. 2015;519:223–228. doi: 10.1038/nature14135. - DOI - PMC - PubMed

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