De novo mutations in autosomal recessive congenital malformations

Genetics in Medicine

Volumn 18, Issue 12, 2016, Pages 1325-1326

  Black, Holly A ^a   Parry, David ^a   Atanur, Santosh S ^a   Ross, David ^a   Rose, Elaine ^a   Russell, Helen ^b   Stock, Sarah ^c   Warner, Jon ^d   Porteous, Mary ^d   Aitman, Timothy J ^a   Evans, Margaret J ^e  

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

^b VICTORIA HOSPITAL   (United Kingdom)

^c UNIVERSITY OF EDINBURGH   (United Kingdom)

^d WESTERN GENERAL HOSPITAL   (United Kingdom)

^e NHS LOTHIAN   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL RECESSIVE DISORDER; CONGENITAL MALFORMATION; DEVELOPMENTAL DISORDER; ELLIS VAN CREVELD SYNDROME; EXON; FETUS MALFORMATION; FRAMESHIFT MUTATION; FRASER SYNDROME; GENE MUTATION; GENETIC RISK; HUMAN; LETTER; LOSS OF FUNCTION MUTATION; PHENOTYPE; RECURRENCE RISK; MUTATION; PEDIGREE; RECESSIVE GENE;

GENES, RECESSIVE; HUMANS; MUTATION; PEDIGREE;

EID: 85000538652     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2016.62     Document Type: Letter

References (3)

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.
2. Yang Y, Muzny DM, Xia F, et al. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA 2014;312:1870-1879.
3. Deciphering Developmental Disorders Study. Large-scale discovery of novel genetic causes of developmental disorders. Nature 2015;519: 223-228.