Henry J Mroczkowski
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Explore the profile of Henry J Mroczkowski including associated specialties, affiliations and a list of published articles.
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9
Citations
91
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Recent Articles
1.
Thorpe E, Williams T, Shaw C, Chekalin E, Ortega J, Robinson K, et al.
Am J Hum Genet
. 2024 Jun;
111(7):1271-1281.
PMID: 38843839
There is mounting evidence of the value of clinical genome sequencing (cGS) in individuals with suspected rare genetic disease (RGD), but cGS performance and impact on clinical care in a...
2.
Vos N, Haghshenas S, van der Laan L, Russel P, Rooney K, Levy M, et al.
Hum Genet
. 2024 May;
143(6):761-773.
PMID: 38787418
Chung-Jansen syndrome is a neurodevelopmental disorder characterized by intellectual disability, behavioral problems, obesity and dysmorphic features. It is caused by pathogenic variants in the PHIP gene that encodes for the...
3.
Vong K, Lee S, Au K, Crowley T, Capra V, Martino J, et al.
Science
. 2024 May;
384(6695):584-590.
PMID: 38696583
Meningomyelocele is one of the most severe forms of neural tube defects (NTDs) and the most frequent structural birth defect of the central nervous system. We assembled the Spina Bifida...
4.
Chandrasekhar A, Mroczkowski H, Urraca N, Gross A, Bluske K, Thorpe E, et al.
Am J Med Genet A
. 2023 Nov;
194(3):e63462.
PMID: 37929330
We describe a family with two maternal half-brothers both of whom presented with muscular dystrophy, autism spectrum disorder, developmental delay, and sensorineural hearing loss. The elder brother had onset of...
5.
Sakaria R, Fonville M, Peravali S, Zaveri P, Mroczkowski H, Caron E, et al.
Am J Med Genet A
. 2021 Dec;
188(4):1245-1250.
PMID: 34897952
The DST gene is located on chromosome 6p and encodes for a large protein. Alternative splicing of this protein produces the neuronal (a1-a3), muscular (b1-b3), and epithelial (e) isoforms. Hereditary...
6.
Krantz I, Medne L, Weatherly J, Wild K, Biswas S, Devkota B, et al.
JAMA Pediatr
. 2021 Sep;
175(12):1218-1226.
PMID: 34570182
Importance: Whole-genome sequencing (WGS) shows promise as a first-line genetic test for acutely ill infants, but widespread adoption and implementation requires evidence of an effect on clinical management. Objective: To...
7.
Vallejo A, Mroczkowski H, Michel J, Woolford M, Blair H, Griffin P, et al.
Clin Transl Immunology
. 2021 Jul;
10(6):e1304.
PMID: 34194748
Objectives: Very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a disorder of fatty acid oxidation. Symptoms are managed by dietary supplementation with medium-chain fatty acids that bypass the metabolic block. However, patients...
8.
Mroczkowski H, Arnold G, Schneck F, Rajkovic A, Yatsenko S
Am J Med Genet A
. 2014 Jul;
164A(10):2623-6.
PMID: 25073539
Cryptorchidism is the most common genital problem encountered in males and is associated with many chromosomal disorders; however, the genetic factors are mostly unknown. To delineate critical genes affecting testicular...
9.
Buterbaugh A, Mroczkowski H, Shankar S, Visootsak J
Ann Paediatr Rheumatol
. 2014 May;
2(4):165-167.
PMID: 24839582
Nearly all children with Down syndrome (DS) are born with hypotonia which later improves with age. We present a case of a 32-month-old female with DS who has persistent hypotonia...