Darrel Waggoner
Overview
Explore the profile of Darrel Waggoner including associated specialties, affiliations and a list of published articles.
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Articles
33
Citations
710
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Recent Articles
1.
Salguero M, Chan K, Greeley S, Dyamenahalli U, Waggoner D, Del Gaudio D, et al.
J Endocr Soc
. 2022 Mar;
6(4):bvac015.
PMID: 35237736
Kabuki syndrome (KS) is a multisystem disorder estimated to occur in 1:32 000 newborns. Pathogenic mutations cause the majority but not all cases of KS in either or . KS...
2.
Mochel F, Rastetter A, Ceulemans B, Platzer K, Yang S, Shinde D, et al.
Brain
. 2020 Nov;
143(12):3564-3573.
PMID: 33242881
KCNN2 encodes the small conductance calcium-activated potassium channel 2 (SK2). Rodent models with spontaneous Kcnn2 mutations show abnormal gait and locomotor activity, tremor and memory deficits, but human disorders related...
3.
Mak C, Doherty D, Lin A, Vegas N, Cho M, Viot G, et al.
Brain
. 2019 Dec;
143(1):55-68.
PMID: 31834374
MN1 encodes a transcriptional co-regulator without homology to other proteins, previously implicated in acute myeloid leukaemia and development of the palate. Large deletions encompassing MN1 have been reported in individuals...
4.
Kanabolo D, Rodriguez J, Waggoner D, Tucker S, Deplewski D, Kaumeyer B, et al.
Pediatr Ann
. 2019 Dec;
48(12):e495-e500.
PMID: 31830290
We report on a case of a 14-year-old phenotypic female with a microdeletion at 13q31.1-q31.3, dysmorphic facial and limb features, and neurologic symptoms. She presented to her pediatrician with concerns...
5.
Beck D, Subramanian T, Vijayalingam S, Ezekiel U, Donkervoort S, Yang M, et al.
Neurogenetics
. 2019 May;
20(3):129-143.
PMID: 31041561
We previously reported a pathogenic de novo p.R342W mutation in the transcriptional corepressor CTBP1 in four independent patients with neurodevelopmental disabilities [1]. Here, we report the clinical phenotypes of seven...
6.
Yap K, Knight Johnson A, Fischer D, Kandikatla P, Deml J, Nelakuditi V, et al.
Genet Med
. 2018 Aug;
21(1):262-265.
PMID: 30097611
The author Diva D. De Leon was incorrectly listed as instead of Diva D. De Leó-Critchlow in the original version of this paper.
7.
Waggoner D, Wain K, Dubuc A, Conlin L, Hickey S, Lamb A, et al.
Genet Med
. 2018 Jun;
20(10):1105-1113.
PMID: 29915380
Purpose: Chromosomal microarray (CMA) is recommended as the first-tier test in evaluation of individuals with neurodevelopmental disability and congenital anomalies. CMA may not detect balanced cytogenomic abnormalities or uniparental disomy...
8.
Yap K, Knight Johnson A, Fischer D, Kandikatla P, Deml J, Nelakuditi V, et al.
Genet Med
. 2018 Jun;
21(1):233-242.
PMID: 29907798
Purpose: Describe the clinical and molecular findings of patients with Kabuki syndrome (KS) who present with hypoglycemia due to congenital hyperinsulinism (HI), and assess the incidence of KS in patients...
9.
Bennett R, Waggoner D, Blitzer M
Genet Med
. 2017 Jun;
19(7):751-753.
PMID: 28617418
No abstract available.
10.
Conboy E, Vairo F, Waggoner D, Ober C, Das S, Dhamija R, et al.
Case Rep Genet
. 2017 May;
2017:9184265.
PMID: 28487785
encodes the -actin, and pathogenic variations in this gene have typically been associated with Baraitser-Winter cerebrofrontofacial syndrome, a congenital malformation syndrome characterized by short stature, craniofacial anomalies, and cerebral anomalies....