Jill Clayton Smith
Overview
Explore the profile of Jill Clayton Smith including associated specialties, affiliations and a list of published articles.
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Snapshot
Articles
4
Citations
134
Followers
0
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Recent Articles
1.
Jiman O, Taylor R, Lenassi E, Smith J, Douzgou S, Ellingford J, et al.
Eur J Hum Genet
. 2019 Dec;
28(5):576-586.
PMID: 31836858
Thirty percent of all inherited retinal disease (IRD) is accounted for by conditions with extra-ocular features. This study aimed to establish the genetic diagnostic pick-up rate for IRD patients with...
2.
Shaw N, Brand H, Kupchinsky Z, Bengani H, Plummer L, Jones T, et al.
Nat Genet
. 2017 May;
49(6):969.
PMID: 28546579
No abstract available.
3.
Shaw N, Brand H, Kupchinsky Z, Bengani H, Plummer L, Jones T, et al.
Nat Genet
. 2017 Jan;
49(2):238-248.
PMID: 28067909
Arhinia, or absence of the nose, is a rare malformation of unknown etiology that is often accompanied by ocular and reproductive defects. Sequencing of 40 people with arhinia revealed that...
4.
Kharbanda M, Pilz D, Tomkins S, Chandler K, Saggar A, Fryer A, et al.
Eur J Med Genet
. 2016 Dec;
60(2):130-135.
PMID: 27915094
Loss of function mutations in CTNNB1 have been reported in individuals with intellectual disability [MIM #615075] associated with peripheral spasticity, microcephaly and central hypotonia, suggesting a recognisable phenotype associated with...