Stefanie Kasperski
Overview
Explore the profile of Stefanie Kasperski including associated specialties, affiliations and a list of published articles.
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7
Citations
53
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0
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Recent Articles
1.
Muraresku C, McCormick E, Rockart L, Crowley T, Asher S, Back A, et al.
Genes (Basel)
. 2024 Jul;
15(7).
PMID: 39062646
Purpose: Genetic counselors (GCs) increasingly play key roles in advancing genomic medicine through innovative research. Here, we examine one large cohort of GCs' evolving contributions to the literature, with the...
2.
Ritter A, Cuddapah S, Degenhardt K, Kasperski S, Johnson M, OConnor M, et al.
Am J Med Genet A
. 2019 Mar;
179(6):1042-1046.
PMID: 30919579
Neurofibromatosis type I (NF1) is a relatively common genetic disorder characterized by neurocutaneous lesions, neurofibromas, skeletal anomalies, iris hamartomas, and predisposition to other tumors. NF1 results from heterozygous loss-of-function mutations...
3.
Unolt M, DiCairano L, Schlechtweg K, Barry J, Howell L, Kasperski S, et al.
Am J Med Genet A
. 2016 Sep;
173(1):135-142.
PMID: 27682988
We report the important association of congenital diaphragmatic hernia (CDH) and 22q11.2 deletion syndrome (22q11.2DS). The prevalence of CDH in our cohort of patients with 22q11.2DS is 0.8% (10/1246), which...
4.
Victoria T, Epelman M, Coleman B, Horii S, Oliver E, Mahboubi S, et al.
AJR Am J Roentgenol
. 2013 Apr;
200(5):989-1000.
PMID: 23617480
Objective: Prenatal diagnosis of skeletal dysplasia is often difficult and based on findings with ultrasound, a technique with 40-60% sensitivity. The purpose of this study was to evaluate a preliminary...
5.
Daber R, Chapman K, Ruchelli E, Kasperski S, Mulchandani S, Thiel B, et al.
Am J Med Genet A
. 2011 Oct;
155A(10):2489-95.
PMID: 21998853
Mosaic trisomy 17 is rare with only 28 cases reported and the clinical presentation is highly variable. The diagnosis is most commonly made by prenatal karyotype and in most cases...
6.
Pressey T, Wilson R, Kasperski S, Bebbington M, Scott Adzick N
Am J Med Genet A
. 2007 Apr;
143A(10):1104-7.
PMID: 17431907
We report on the prenatal diagnosis of partial trisomy 1q and monosomy X in a fetus with a congenital lung lesion and hydrops. The finding of hydrops in a fetus...
7.
Wilson R, Baxter J, Johnson M, King M, Kasperski S, Crombleholme T, et al.
Fetal Diagn Ther
. 2004 Aug;
19(5):413-20.
PMID: 15305098
Objective: To determine whether fetuses that underwent thoracoamniotic shunt placement for treatment of pleural effusion (PE) or macrocystic congenital cystic adenomatoid malformation (CCAM) have an improved outcome as compared with...