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An exemplary model of genetic counselling for highly specialised services
With genomic testing being increasingly integrated into every day clinical practice and a wide range of practitioners ordering genetic tests, it is important that the scope of the genetic counselling role con...
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Correction: Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
Nat. Genet. 49, 238–248 (2017); published online 9 January 2017; corrected after print 20 March 2017 In the version of this article initially published, the legend to Figure 4c stated that only one proband wit...
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Article
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
Michael Talkowski, David FitzPatrick, Erica Davis and colleagues report rare inherited or de novo missense variants in SMCHD1 in arhinia patients. Some of the same mutations in SMCHD1 are known to cause a phenoty...
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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
Michael Talkowski and colleagues analyze balanced chromosomal abnormalities in 273 individuals by whole-genome sequencing. Their findings suggest that sequence-level resolution improves prediction of clinical ...
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A Genetic Lung Cancer Susceptibility Test may have a Positive Effect on Smoking Cessation
Smoking increases the risk of develo** lung cancer. Genetic loci have been identified which could form the basis of a lung cancer susceptibility test; but little is known whether such a test would interest o...
