Jennifer C Dempsey
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Explore the profile of Jennifer C Dempsey including associated specialties, affiliations and a list of published articles.
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39
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1028
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Recent Articles
11.
Van De Weghe J, Giordano J, Mathijssen I, Mojarrad M, Lugtenberg D, Miller C, et al.
HGG Adv
. 2021 Apr;
2(1).
PMID: 33791682
The Joubert-Meckel syndrome spectrum is a continuum of recessive ciliopathy conditions caused by primary cilium dysfunction. The primary cilium is a microtubule-based, antenna-like organelle that projects from the surface of...
12.
Latour B, Van De Weghe J, Rusterholz T, Letteboer S, Gomez A, Shaheen R, et al.
J Clin Invest
. 2020 May;
130(8):4423-4439.
PMID: 32453716
Joubert syndrome (JBTS) is a recessive neurodevelopmental ciliopathy characterized by a pathognomonic hindbrain malformation. All known JBTS genes encode proteins involved in the structure or function of primary cilia, ubiquitous...
13.
Bachmann-Gagescu R, Dempsey J, Bulgheroni S, Chen M, DArrigo S, Glass I, et al.
Am J Med Genet A
. 2019 Nov;
182(1):229-249.
PMID: 31710777
Joubert syndrome (JS) is a recessive neurodevelopmental disorder defined by a characteristic cerebellar and brainstem malformation recognizable on axial brain magnetic resonance imaging as the "Molar Tooth Sign". Although defined...
14.
Aldinger K, Dempsey J, Tully H, Grout M, Mehaffey M, Dobyns W, et al.
Am J Med Genet C Semin Med Genet
. 2018 Dec;
178(4):432-439.
PMID: 30580482
Rhombencephalosynapsis (RES) is a unique cerebellar malformation characterized by fusion of the cerebellar hemispheres with partial or complete absence of a recognizable cerebellar vermis. Subsets of patients also have other...
15.
LaCroix A, Stabley D, Sahraoui R, Adam M, Mehaffey M, Kernan K, et al.
Am J Hum Genet
. 2018 Dec;
104(1):35-44.
PMID: 30554721
Baratela-Scott syndrome (BSS) is a rare, autosomal-recessive disorder characterized by short stature, facial dysmorphisms, developmental delay, and skeletal dysplasia caused by pathogenic variants in XYLT1. We report clinical and molecular...
16.
Phelps I, Dempsey J, Grout M, Isabella C, Tully H, Doherty D, et al.
Genet Med
. 2017 Aug;
20(2):223-233.
PMID: 28771248
PurposeNext-generation sequencing (NGS) often identifies multiple rare predicted-deleterious variants (RDVs) in different genes associated with a recessive disorder in a given patient. Such variants have been proposed to contribute to...
17.
Van De Weghe J, Rusterholz T, Latour B, Grout M, Aldinger K, Shaheen R, et al.
Am J Hum Genet
. 2017 Jun;
101(1):23-36.
PMID: 28625504
Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye movements, and variable cognitive impairment. It is defined by a distinctive brain malformation known as the...
18.
Dempsey J, Phelps I, Bachmann-Gagescu R, Glass I, Tully H, Doherty D
Am J Med Genet A
. 2017 Apr;
173(5):1237-1242.
PMID: 28371402
Joubert syndrome (JS) is a rare, recessively inherited neurodevelopmental disorder characterized by a distinctive mid-hindbrain malformation. Little is known about mortality in affected individuals. Identifying the timing and causes of...
19.
Kane M, Davids M, Bond M, Adams C, Grout M, Phelps I, et al.
Cilia
. 2017 Mar;
6:2.
PMID: 28344780
Background: The discovery of disease pathogenesis requires systematic agnostic screening of multiple homeostatic processes that may become deregulated. We illustrate this principle in the evaluation and diagnosis of a 5-year-old...
20.
Chong J, Caputo V, Phelps I, Stella L, Worgan L, Dempsey J, et al.
Am J Hum Genet
. 2016 Apr;
98(4):772-81.
PMID: 27040692
Infantile encephalopathies are a group of clinically and biologically heterogeneous disorders for which the genetic basis remains largely unknown. Here, we report a syndromic neonatal encephalopathy characterized by profound developmental...