Dorothy Warburton
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Explore the profile of Dorothy Warburton including associated specialties, affiliations and a list of published articles.
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36
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2632
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Recent Articles
1.
Ordulu Z, Kammin T, Brand H, Pillalamarri V, Redin C, Collins R, et al.
Am J Hum Genet
. 2016 Oct;
99(5):1015-1033.
PMID: 27745839
In this exciting era of "next-gen cytogenetics," integrating genomic sequencing into the prenatal diagnostic setting is possible within an actionable time frame and can provide precise delineation of balanced chromosomal...
2.
Martin C, Warburton D
Annu Rev Genomics Hum Genet
. 2015 Jun;
16:309-26.
PMID: 26077817
Since the inception of clinical cytogenetics in the late 1950s, the field has witnessed the evolution of multiple methodologies for the evaluation of chromosomal imbalances and rearrangements. From the replacement...
3.
Glessner J, Bick A, Ito K, Homsy J, Rodriguez-Murillo L, Fromer M, et al.
Circ Res
. 2014 Sep;
115(10):884-896.
PMID: 25205790
Rationale: Congenital heart disease (CHD) is among the most common birth defects. Most cases are of unknown pathogenesis. Objective: To determine the contribution of de novo copy number variants (CNVs)...
4.
DeStefano G, Kurban M, Anyane-Yeboa K, DallArmi C, Paolo G, Feenstra H, et al.
PLoS Genet
. 2014 May;
10(5):e1004333.
PMID: 24831815
Inherited hypertrichoses are rare syndromes characterized by excessive hair growth that does not result from androgen stimulation, and are often associated with additional congenital abnormalities. In this study, we investigated...
5.
Hook E, Warburton D
Hum Genet
. 2014 Jan;
133(4):417-24.
PMID: 24477775
We review the data pertinent to the hypothesis we proposed three decades ago, that all embryos that survive gestation as women with Turner syndrome and have an ostensibly non-mosaic 45,X...
6.
Kline J, Kinney A, Levin B, Brown S, Hadd A, Warburton D
Menopause
. 2014 Jan;
21(7):740-8.
PMID: 24423935
Objective: Premutation and intermediate CGG repeat length at the fragile X mental retardation 1 (FMR1) locus have been associated with premature ovarian failure. We tested whether intermediate length is associated...
7.
Warburton D, Ronemus M, Kline J, Jobanputra V, Williams I, Anyane-Yeboa K, et al.
Hum Genet
. 2013 Aug;
133(1):11-27.
PMID: 23979609
Congenital heart disease (CHD) is the most common congenital malformation, with evidence of a strong genetic component. We analyzed data from 223 consecutively ascertained families, each consisting of at least...
8.
Zaidi S, Choi M, Wakimoto H, Ma L, Jiang J, Overton J, et al.
Nature
. 2013 May;
498(7453):220-3.
PMID: 23665959
Congenital heart disease (CHD) is the most frequent birth defect, affecting 0.8% of live births. Many cases occur sporadically and impair reproductive fitness, suggesting a role for de novo mutations....
9.
DeStefano G, Fantauzzo K, Petukhova L, Kurban M, Tadin-Strapps M, Levy B, et al.
Proc Natl Acad Sci U S A
. 2013 Apr;
110(19):7790-5.
PMID: 23603273
X-linked congenital generalized hypertrichosis (Online Mendelian Inheritance in Man 307150) is an extremely rare condition of hair overgrowth on different body sites. We previously reported linkage in a large Mexican...
10.
Orjuela M, Liu X, Miller R, Warburton D, Tang D, Jobanputra V, et al.
Cancer Epidemiol Biomarkers Prev
. 2012 May;
21(7):1191-202.
PMID: 22573794
Background: Exposure to naphthalene, an International Agency for Research on Cancer (IARC)-classified possible carcinogen and polycyclic aromatic hydrocarbon (PAH), is widespread, though resulting health effects are poorly understood. Metabolites of...