C. Mroske

发表

TNF ligands (communication arising): Is TALL-1 a trimer or a virus-like cluster?

Jie-Oh Lee, E. Zhukovsky, M. Villegas, 2004, Nature.

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

Xiang Li, Aaron Elliott, Xiang Li, 2014, Genetics in Medicine.

Pediatric Myelodysplastic Syndrome With Germline RRAS Mutation: Expanding the Phenotype of RASopathies.

C. Mroske, J. Hunter, Daniel S Catts, 2020, Journal of pediatric hematology/oncology.

Characterization of prostaglandin endoperoxide H synthase-1 enzyme expression during differentiation of the megakaryocytic cell line MEG-01.

C. Mroske, D. Franks, O. Laneuville, 2000, Experimental hematology.

A fluorescence microscopy method for quantifying levels of prostaglandin endoperoxide H synthase-1 and CD-41 in MEG-01 cells

C. Mroske, D. Franks, O. Laneuville, 2001, Biological Procedures Online.

Toward a Fluorescent SSCP Technique that Detects all Mutations: F-DOVAM-S

C. Mroske, Jinong Feng, Jin Yan, 2009 .

Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal‐Dominant Hereditary Connective Tissue Disease

P. Hulick, F. Bucciotti, C. Mroske, 2015, Human mutation.

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.

Douglas P. Larsen, D. Nickerson, M. Bamshad, 2018, American journal of human genetics.

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

I. Helbig, C. Mroske, K. Helbig, 2016, Genetics in Medicine.

Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance

A. Serretti, A. Fatemi, K. Gripp, 2018, Clinical genetics.

Biallelic loss‐of‐function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability

S. Sajan, C. Mroske, K. Helbig, 2017, Clinical genetics.

CLTC as a clinically novel gene associated with multiple malformations and developmental delay

C. Mroske, Sha Tang, J. DeMari, 2016, American journal of medical genetics. Part A.

Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

Sitao Wu, S. Sajan, C. Mroske, 2016, Genetics in Medicine.

Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

Sitao Wu, S. Sajan, C. Mroske, 2018, Genetics in Medicine.

A capillary electrophoresis sequencing method for the identification of mutations in the inverted terminal repeats of adeno-associated virus.

C. Mroske, S. Chatterjee, K. Wong, 2012, Human gene therapy methods.

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder

Michael F. Wangler, A. Need, S. Levy, 2018, Human molecular genetics.

Toward a fluorescent single-strand conformation polymorphism technique that detects all mutations: F-DOVAM-S.

C. Mroske, Jinong Feng, Jin Yan, 2007, Analytical biochemistry.

Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities

E. McPherson, C. Mroske, D. Shinde, 2015, BMC Medical Genetics.