Jennifer N Dines
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Explore the profile of Jennifer N Dines 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
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17
Citations
505
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Recent Articles
11.
Dines J, Shirts B, Slavin T, Walsh T, King M, Fowler D, et al.
Genet Med
. 2020 Jan;
22(5):825-830.
PMID: 31911673
Purpose: Guidelines for variant interpretation incorporate variant hotspots in critical functional domains as evidence for pathogenicity (e.g., PM1 and PP2), but do not use "coldspots," that is, regions without essential...
12.
Gelman H, Dines J, Berg J, Berger A, Brnich S, Hisama F, et al.
Genome Med
. 2019 Dec;
11(1):85.
PMID: 31862013
Variants of uncertain significance represent a massive challenge to medical genetics. Multiplexed functional assays, in which the functional effects of thousands of genomic variants are assessed simultaneously, are increasingly generating...
13.
Dines J, Liu Y, Neufeld-Kaiser W, Sawyer T, Ishak G, Tully H, et al.
Am J Med Genet A
. 2019 Jul;
179(9):1783-1790.
PMID: 31294511
Rare individuals with 20p11.2 proximal deletions have been previously reported, with a variable phenotype that includes heterotaxy, biliary atresia, midline brain defects associated with panhypopituitarism, intellectual disability, scoliosis, and seizures....
14.
Karolak J, Vincent M, Deutsch G, Gambin T, Cogne B, Pichon O, et al.
Am J Hum Genet
. 2019 Jan;
104(2):213-228.
PMID: 30639323
Primary defects in lung branching morphogenesis, resulting in neonatal lethal pulmonary hypoplasias, are incompletely understood. To elucidate the pathogenetics of human lung development, we studied a unique collection of samples...
15.
Bozarth X, Dines J, Cong Q, Mirzaa G, Foss K, Merritt 2nd J, et al.
Am J Med Genet A
. 2018 Dec;
176(12):2733-2739.
PMID: 30513141
CACNA1C (NM_000719.6) encodes an L-type calcium voltage-gated calcium channel (Ca 1.2), and pathogenic variants have been associated with two distinct clinical entities: Timothy syndrome and Brugada syndrome. Thus far, CACNA1C...
16.
Dines J, Golden-Grant K, Lacroix A, Muir A, Laboy Cintron D, McWalter K, et al.
Genet Med
. 2018 Oct;
21(8):1899.
PMID: 30327536
The original version of this Article contained an error in the spelling of the author J. Lawrence Merritt, which was incorrectly given as Lawrence Merritt. This has now been corrected...
17.
Dines J, Golden-Grant K, Lacroix A, Muir A, Laboy Cintron D, McWalter K, et al.
Genet Med
. 2018 Sep;
21(3):601-607.
PMID: 30245509
Purpose: TANGO2-related disorders were first described in 2016 and prior to this publication, only 15 individuals with TANGO2-related disorder were described in the literature. Primary features include metabolic crisis with...
18.
Matreyek K, Starita L, Stephany J, Martin B, Chiasson M, Gray V, et al.
Nat Genet
. 2018 May;
50(6):874-882.
PMID: 29785012
Determining the pathogenicity of genetic variants is a critical challenge, and functional assessment is often the only option. Experimentally characterizing millions of possible missense variants in thousands of clinically important...
19.
Askren M, McAllister-Day T, Koh N, Mestre Z, Dines J, Korman B, et al.
Front Neuroinform
. 2016 Feb;
10:2.
PMID: 26869916
The contribution of this paper is to describe how we can program neuroimaging workflow using Make, a software development tool designed for describing how to build executables from source files....