Michael Wangler
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Explore the profile of Michael Wangler including associated specialties, affiliations and a list of published articles.
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Articles
8
Citations
123
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0
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Recent Articles
1.
German R, Vuocolo B, Vossaert L, Saba L, Fletcher R, Tedder M, et al.
Am J Med Genet A
. 2024 Aug;
197(1):e63849.
PMID: 39166703
We report a 40-year-old African American female with a novel variant in exon 8 of DNA methyltransferase 3 alpha (DNMT3A), (NM_022552.4: c.905G>C, p.G302A) who presented with a history of recurrent...
2.
Ford C, Littlejohn R, German R, Vuocolo B, Aceves J, Vossaert L, et al.
Mol Genet Genomic Med
. 2023 Aug;
11(12):e2272.
PMID: 37614148
Background: Genomic medicine is revolutionizing the diagnosis of rare diseases, but the implementation has not benefited underrepresented populations to the same degree. Here, we report the case of a 7-year-old...
3.
Jangam S, Briere L, Jay K, Andrews J, Walker M, Rodan L, et al.
medRxiv
. 2023 Feb;
PMID: 36778246
( , a Polycomb Repressive Complex-2 (PRC2) component, is involved in a myriad of cellular processes through modifying histone 3 lysine27 (H3K27) residues. represses transcription of downstream target genes through...
4.
Khayat M, Li H, Chander V, Hu J, Hansen A, Li S, et al.
Hum Mutat
. 2021 Mar;
42(5):577-591.
PMID: 33644933
Xia-Gibbs syndrome (XGS) is a rare Mendelian disease typically caused by de novo stop-gain or frameshift mutations in the AT-hook DNA binding motif containing 1 (AHDC1) gene. Patients usually present...
5.
Barish S, Barakat T, Michel B, Mashtalir N, Phillips J, Valencia A, et al.
Am J Hum Genet
. 2020 Nov;
107(6):1096-1112.
PMID: 33232675
SWI/SNF-related intellectual disability disorders (SSRIDDs) are rare neurodevelopmental disorders characterized by developmental disability, coarse facial features, and fifth digit/nail hypoplasia that are caused by pathogenic variants in genes that encode...
6.
Murdock D, Jiang Y, Wangler M, Khayat M, Sabo A, Juusola J, et al.
Cold Spring Harb Mol Case Stud
. 2019 Jan;
5(3).
PMID: 30622101
A 55-yr-old male with severe intellectual disability, behavioral problems, kyphoscoliosis, and dysmorphic features was referred for a genetic evaluation. Chromosomal microarray, RASopathy gene panel, mitochondrial sequencing, and fragile X testing...
7.
Faust J, Manisundaram A, Ivanova P, Milne S, Summerville J, Brown H, et al.
PLoS One
. 2014 Jun;
9(6):e100213.
PMID: 24945818
Peroxisomes are ubiquitous organelles that perform lipid and reactive oxygen species metabolism. Defects in peroxisome biogenesis cause peroxisome biogenesis disorders (PBDs). The most severe PBD, Zellweger syndrome, is characterized in...
8.
Chang A, Moley K, Wangler M, Feinberg A, DeBaun M
Fertil Steril
. 2005 Feb;
83(2):349-54.
PMID: 15705373
Objective: An association between assisted reproductive technique (ART) and specific imprinting mutations, such as Beckwith-Wiedemann syndrome (BWS), has recently been documented. Based on experiments in farm animals that demonstrated an...