Michael Marble
Overview
Explore the profile of Michael Marble 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
Snapshot
Snapshot
Articles
30
Citations
476
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
2.
Symonds J, Park K, Mignot C, MacLeod S, Armstrong M, Ashrafian H, et al.
Epilepsia
. 2024 Sep;
65(11):3303-3323.
PMID: 39348199
Objective: POLR3B encodes the second largest subunit of RNA polymerase III, which is essential for transcription of small non-coding RNAs. Biallelic pathogenic variants in POLR3B are associated with an inherited...
3.
Deshwar A, Cytrynbaum C, Murthy H, Zon J, Chitayat D, Volpatti J, et al.
Brain
. 2022 Dec;
146(6):2285-2297.
PMID: 36477332
The blood-brain barrier ensures CNS homeostasis and protection from injury. Claudin-5 (CLDN5), an important component of tight junctions, is critical for the integrity of the blood-brain barrier. We have identified...
4.
Schnur R, Yousaf S, Liu J, Chung W, Rhodes L, Marble M, et al.
Genet Med
. 2021 May;
23(9):1624-1635.
PMID: 34040189
Purpose: The human chromosome 19q13.11 deletion syndrome is associated with a variable phenotype that includes aplasia cutis congenita (ACC) and ectrodactyly as specific features. UBA2 (ubiquitin-like modifier-activating enzyme 2) lies...
5.
Guillen Sacoto M, Tchasovnikarova I, Torti E, Forster C, Andrew E, Anselm I, et al.
Am J Hum Genet
. 2020 Jul;
107(2):352-363.
PMID: 32693025
MORC2 encodes an ATPase that plays a role in chromatin remodeling, DNA repair, and transcriptional regulation. Heterozygous variants in MORC2 have been reported in individuals with autosomal-dominant Charcot-Marie-Tooth disease type...
6.
Casano K, Meddaugh H, Zambrano R, Marble M, Torres J, Lacassie Y
Eur J Med Genet
. 2020 Jan;
63(4):103842.
PMID: 31945512
Gorlin syndrome, also known as Nevoid Basal-Cell Carcinoma Syndrome (NBCCS), is an autosomal dominant tumor predisposition syndrome that presents early in life with characteristic congenital malformations and tumors. This syndrome...
7.
Umrigar A, Musso A, Mercer D, Hurley A, Glausier C, Bakeer M, et al.
SAGE Open Med Case Rep
. 2017 Dec;
5:2050313X17745904.
PMID: 29276601
Advances in sequencing technologies and increased understanding of the contribution of genetics to congenital sensorineural hearing loss have led to vastly improved outcomes for patients and their families. Next-generation sequencing...
8.
Thompson D, Patrick-Esteve J, Surcouf J, Rivera D, Castellanos B, Desai P, et al.
Clin Dysmorphol
. 2017 Aug;
26(4):195-199.
PMID: 28777121
Noonan syndrome (NS) is an autosomal dominant disorder characterized by distinctive facial features, short neck, short stature, congenital heart defects, pectus deformities, and variable developmental delays. NS is genetically heterogeneous...
9.
Avula S, Nguyen T, Marble M, Lilje C
Echocardiography
. 2017 Mar;
34(4):621-624.
PMID: 28266734
Classic infantile-onset Pompe disease (IOPD), characterized by predominantly cardiac involvement, used to be considered uniformly lethal within months. The availability of enzyme replacement therapy (ERT) has transformed the course of...
10.
Marble M, Guillen Sacoto M, Chikarmane R, Gargiulo D, Juusola J
Am J Med Genet A
. 2017 Jan;
173(3):758-761.
PMID: 28110515
We report a patient with aplasia cutis congenita, Duane anomaly, hip dysplasia, and other anomalies who had a de novo missense variant in UBA2, which encodes for a protein involved...