Judith A Goodship
Overview
Explore the profile of Judith A Goodship including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
57
Citations
3112
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Yang B, Zhou W, Jiao J, Nielsen J, Mathis M, Heydarpour M, et al.
Nat Commun
. 2017 May;
8:15481.
PMID: 28541271
Bicuspid aortic valve (BAV) is a heritable congenital heart defect and an important risk factor for valvulopathy and aortopathy. Here we report a genome-wide association scan of 466 BAV cases...
2.
Adam J, Browning A, Vaideanu D, Heidet L, Goodship J, Sayer J
Clin Kidney J
. 2016 Jun;
6(4):410-3.
PMID: 27293569
Renal coloboma syndrome (RCS) is a rare inherited condition exhibiting a variable clinical phenotype of renal and ocular abnormalities. In 50% of cases, mutations can be found in the transcription...
3.
Hanchard N, Swaminathan S, Bucasas K, Furthner D, Fernbach S, Azamian M, et al.
Hum Mol Genet
. 2016 Mar;
25(11):2331-2341.
PMID: 26965164
Congenital heart defects involving left-sided lesions (LSLs) are relatively common birth defects with substantial morbidity and mortality. Previous studies have suggested a high heritability with a complex genetic architecture, such...
4.
Howey R, Mamasoula C, Topf A, Nudel R, Goodship J, Keavney B, et al.
Am J Hum Genet
. 2015 Sep;
97(3):419-34.
PMID: 26320892
Parent-of-origin (or imprinting) effects relate to the situation in which traits are influenced by the allele inherited from only one parent and the allele from the other parent has little...
5.
Lin Y, Guo X, Zhao B, Liu J, Da M, Wen Y, et al.
Nat Commun
. 2015 Aug;
6:8082.
PMID: 26283027
Our previous genome-wide association study (GWAS) identified two susceptibility loci for congenital heart disease (CHD) in Han Chinese. Here we identify additional loci by testing promising associations in an extended...
6.
Vivante A, Kleppa M, Schulz J, Kohl S, Sharma A, Chen J, et al.
Am J Hum Genet
. 2015 Aug;
97(2):291-301.
PMID: 26235987
Congenital anomalies of the kidneys and urinary tract (CAKUT) are the most common cause of chronic kidney disease in the first three decades of life. Identification of single-gene mutations that...
7.
Wilson B, Stark Z, Sutton R, Danda S, Ekbote A, Elsayed S, et al.
Genet Med
. 2015 Jul;
18(5):483-93.
PMID: 26204423
Purpose: Cockayne syndrome (CS) is a rare, autosomal-recessive disorder characterized by microcephaly, impaired postnatal growth, and premature pathological aging. It has historically been considered a DNA repair disorder; fibroblasts from...
8.
Montgomery E, Sayer J, Baines L, Hynes A, Vega-Warner V, Johnson S, et al.
BMC Med Genet
. 2015 Jun;
16:35.
PMID: 26040326
Background: Imerslund-Gräsbeck Syndrome (IGS) is a rare autosomal recessive disease characterized by intestinal vitamin B12 malabsorption. Clinical features include megaloblastic anemia, recurrent infections, failure to thrive, and proteinuria. Recessive mutations...
9.
Caparros-Martin J, De Luca A, Cartault F, Aglan M, Temtamy S, Otaify G, et al.
Hum Mol Genet
. 2015 Apr;
24(14):4126-37.
PMID: 25908617
Most patients with Ellis-van Creveld syndrome (EvC) are identified with pathogenic changes in EVC or EVC2, however further genetic heterogeneity has been suggested. In this report we describe pathogenic splicing...
10.
Sansbury F, Cordell H, Bingham C, Bromilow G, Nicholls A, Powell R, et al.
J Med Genet
. 2014 Sep;
51(11):756-64.
PMID: 25261570
Background: Inherited abnormalities of complement are found in ∼60% of patients with atypical haemolytic uraemic syndrome (aHUS). Such abnormalities are not fully penetrant. In this study, we have estimated the...