David Sillence
Overview
Explore the profile of David Sillence including associated specialties, affiliations and a list of published articles.
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47
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1841
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Recent Articles
1.
Unger S, Ferreira C, Mortier G, Ali H, Bertola D, Calder A, et al.
Am J Med Genet A
. 2023 Feb;
191(5):1164-1209.
PMID: 36779427
The "Nosology of genetic skeletal disorders" has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to...
2.
Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng S, Li Y, et al.
Nat Genet
. 2022 Jan;
54(2):213.
PMID: 35064218
No abstract available.
3.
Cathey S, Sarasua S, Simensen R, Pietris K, Kimbrell G, Sillence D, et al.
JIMD Rep
. 2019 Nov;
50(1):44-49.
PMID: 31741826
Alpha-mannosidosis is a rare inherited metabolic disorder (OMIM #248500) caused by mutations in the enzyme α-mannosidase encoded by the gene . Patients have distinct physical and developmental features, but only...
4.
Mortier G, Cohn D, Cormier-Daire V, Hall C, Krakow D, Mundlos S, et al.
Am J Med Genet A
. 2019 Oct;
179(12):2393-2419.
PMID: 31633310
The application of massively parallel sequencing technology to the field of skeletal disorders has boosted the discovery of the underlying genetic defect for many of these diseases. It has also...
5.
Ewans L, Colley A, Gaston-Massuet C, Gualtieri A, Cowley M, McCabe M, et al.
J Med Genet
. 2019 May;
56(9):629-638.
PMID: 31129566
Background: Pathogenic variants cause a connective tissue disorder (CTD) that has been described rarely. We further characterise this CTD and propose a clinical diagnostic label to improve recognition and diagnosis...
6.
Tarnauskaite Z, Bicknell L, Marsh J, Murray J, Parry D, Logan C, et al.
Hum Mutat
. 2019 May;
40(8):1063-1070.
PMID: 31045292
Microcephalic primordial dwarfism (MPD) is a group of rare single-gene disorders characterized by the extreme reduction in brain and body size from early development onwards. Proteins encoded by MPD-associated genes...
7.
Sargolzaeiaval F, Zhang J, Schleit J, Lessel D, Kubisch C, Precioso D, et al.
Mol Genet Genomic Med
. 2018 Nov;
6(6):1148-1156.
PMID: 30393977
Background: Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is an autosomal recessive disorder caused by pathogenic variants of the conserved telomere maintenance component 1 (CTC1) gene. The CTC1 forms the...
8.
Wade E, Jenkins Z, Daniel P, Morgan T, Addor M, Ades L, et al.
Am J Med Genet A
. 2017 May;
173(7):1739-1746.
PMID: 28498505
Frontometaphyseal dysplasia (FMD) is caused by gain-of-function mutations in the X-linked gene FLNA in approximately 50% of patients. Recently we characterized an autosomal dominant form of FMD (AD-FMD) caused by...
9.
10.
Bonafe L, Cormier-Daire V, Hall C, Lachman R, Mortier G, Mundlos S, et al.
Am J Med Genet A
. 2015 Sep;
167A(12):2869-92.
PMID: 26394607
The purpose of the nosology is to serve as a "master" list of the genetic disorders of the skeleton to facilitate diagnosis and to help delineate variant or newly recognized...