Daniel Groepper
Overview
Explore the profile of Daniel Groepper including associated specialties, affiliations and a list of published articles.
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Articles
13
Citations
141
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0
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Recent Articles
1.
Boucher L, Nestler B, Groepper D, Quillin J, Deyle D, Halverson C
Genet Med Open
. 2025 Feb;
3:101960.
PMID: 39996015
Purpose: Hypermobile Ehlers-Danlos syndrome (hEDS) and joint hypermobility syndrome (JHS), among other conditions, comprise a collection of heritable disorders of connective tissue. There are recognized challenges in diagnosing JHS/hEDS. Despite...
2.
Gostic N, Groepper D, Trinkle-Tucker M, Johnson M, Niendorf K
J Genet Couns
. 2023 Apr;
33(2):269-280.
PMID: 37096772
For healthcare workers, recognized professional challenges associated with the COVID-19 pandemic include changes to service delivery models, increased burnout, furlough, and loss of income. The main goal of this study...
3.
Burton B, Shively V, Quadri A, Warn L, Burton J, Grange D, et al.
Mol Genet Metab
. 2023 Mar;
140(1-2):107557.
PMID: 36907694
We describe our experience with population-based newborn screening for mucopolysaccharidosis type II (MPS II) in 586,323 infants by measurement of iduronate-2-sulfatase activity in dried blood spots between December 12, 2017...
4.
Poll S, Martin R, Wohler E, Partan E, Walek E, Salman S, et al.
PLoS Genet
. 2022 Dec;
18(12):e1010504.
PMID: 36480544
Ollier disease (OD) and Maffucci Syndrome (MS) are rare disorders characterized by multiple enchondromas, commonly causing bone deformities, limb length discrepancies, and pathological fractures. MS is distinguished from OD by...
5.
Fry D, Groepper D, MacCarrick G, Demo E, Thomas M, Wilkes M, et al.
Am J Med Genet A
. 2022 Apr;
188(7):2237-2241.
PMID: 35426477
Loeys-Dietz syndrome (LDS) is a connective tissue disorder that commonly results in a dilated aorta, aneurysms, joint laxity, craniosynostosis, and soft skin that bruises easily. Neurodevelopmental abnormalities are uncommon in...
6.
Ernst M, Baugh E, Thomas A, Bier L, Lippa N, Stong N, et al.
Epilepsia
. 2021 May;
62(7):e103-e109.
PMID: 34041744
CSNK2B has recently been implicated as a disease gene for neurodevelopmental disability (NDD) and epilepsy. Information about developmental outcomes has been limited by the young age and short follow-up for...
7.
Mannucci I, Dang N, Huber H, Murry J, Abramson J, Althoff T, et al.
Genome Med
. 2021 May;
13(1):90.
PMID: 34020708
Background: We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. Methods: Clinical and genetic data from affected individuals were...
8.
van Woerden G, Bos M, de Konink C, Distel B, Avagliano Trezza R, Shur N, et al.
Hum Mutat
. 2021 Feb;
42(4):445-459.
PMID: 33565190
Thousand and one amino-acid kinase 1 (TAOK1) is a MAP3K protein kinase, regulating different mitogen-activated protein kinase pathways, thereby modulating a multitude of processes in the cell. Given the recent...
9.
Burton B, Charrow J, Hoganson G, Fleischer J, Grange D, Braddock S, et al.
Int J Neonatal Screen
. 2020 Oct;
6(1):4.
PMID: 33073003
Statewide newborn screening for Pompe disease began in Illinois in 2015. As of 30 September 2019, a total of 684,290 infants had been screened and 395 infants (0.06%) were screen...
10.
Chilton I, Okur V, Vitiello G, Selicorni A, Mariani M, Goldenberg A, et al.
Am J Med Genet A
. 2020 Feb;
182(5):962-973.
PMID: 32031333
CDC42BPB encodes MRCKβ (myotonic dystrophy-related Cdc42-binding kinase beta), a serine/threonine protein kinase, and a downstream effector of CDC42, which has recently been associated with Takenouchi-Kosaki syndrome, an autosomal dominant neurodevelopmental...