Andrew P Jackson
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Explore the profile of Andrew P Jackson including associated specialties, affiliations and a list of published articles.
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139
Citations
10354
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Recent Articles
21.
Ferreira C, Niiler T, Duker A, Jackson A, Bober M
Am J Med Genet A
. 2020 Jul;
182(9):2110-2116.
PMID: 32652690
Saul-Wilson syndrome (SWS) is a rare autosomal recessive disorder characterized by microcephalic primordial dwarfism, spondyloepimetaphyseal dysplasia, characteristic facial findings, clubfoot, brachydactyly, bilateral cataracts, and hearing loss. Recently, recurrent mutations in...
22.
Silva Pereira S, de Almeida Castilho Neto K, Duffy C, Richards P, Noyes H, Ogugo M, et al.
Nat Commun
. 2020 Feb;
11(1):844.
PMID: 32051413
African trypanosomes (Trypanosoma) are vector-borne haemoparasites that survive in the vertebrate bloodstream through antigenic variation of their Variant Surface Glycoprotein (VSG). Recombination, or rather segmented gene conversion, is fundamental in...
23.
Ferreira C, Zein W, Huryn L, Merker A, Berger S, Wilson W, et al.
Genet Med
. 2020 Jan;
22(5):857-866.
PMID: 31949312
Purpose: Four patients with Saul-Wilson syndrome were reported between 1982 and 1994, but no additional individuals were described until 2018, when the molecular etiology of the disease was elucidated. Hence,...
24.
Knapp K, Sullivan R, Murray J, Gimenez G, Arn P, DSouza P, et al.
J Med Genet
. 2019 Dec;
57(3):195-202.
PMID: 31784481
Material: Linked-read whole genome sequencing (WGS) presents a new opportunity for cost-efficient singleton sequencing in place of traditional trio-based designs while generating informative-phased variants, effective for recessive disorders when parental...
25.
Silva Pereira S, Heap J, Jones A, Jackson A
Gigascience
. 2019 Sep;
8(9).
PMID: 31494667
Background: Analysing variant antigen gene families on a population scale is a difficult challenge for conventional methods of read mapping and variant calling due to the great variability in sequence,...
26.
Cheng C, Jongwutiwes S, Putaporntip C, Jackson A
Malar J
. 2019 Jun;
18(1):197.
PMID: 31196098
Background: Vivax malaria is the predominant form of malaria outside Africa, affecting about 14 million people worldwide, with about 2.5 billion people exposed. Development of a Plasmodium vivax vaccine is...
27.
Hull S, Arno G, Ostergaard P, Pontikos N, Robson A, Webster A, et al.
Am J Ophthalmol
. 2019 May;
207:87-98.
PMID: 31077665
Purpose: Familial exudative vitreoretinopathy (FEVR) is a rare finding in patients with genetic forms of microcephaly. This study documents the detailed phenotype and expands the range of genetic heterogeneity. Design:...
28.
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...
29.
Handley M, Reddy K, Wills J, Rosser E, Kamath A, Halachev M, et al.
PLoS Genet
. 2019 Mar;
15(3):e1007605.
PMID: 30856165
Typical Martsolf syndrome is characterized by congenital cataracts, postnatal microcephaly, developmental delay, hypotonia, short stature and biallelic hypomorphic mutations in either RAB3GAP1 or RAB3GAP2. Genetic analysis of 85 unrelated "mutation...
30.
Burrage L, Reynolds J, Baratang N, Phillips J, Wegner J, McFarquhar A, et al.
Am J Hum Genet
. 2019 Feb;
104(3):422-438.
PMID: 30773277
SPONASTRIME dysplasia is an autosomal-recessive spondyloepimetaphyseal dysplasia characterized by spine (spondylar) abnormalities, midface hypoplasia with a depressed nasal bridge, metaphyseal striations, and disproportionate short stature. Scoliosis, coxa vara, childhood cataracts,...