M
Michelle A. Springer
Researcher at University of Colorado Denver
Publications - 6
Citations - 206
Michelle A. Springer is an academic researcher from University of Colorado Denver. The author has contributed to research in topics: Comparative genomic hybridization & Population. The author has an hindex of 5, co-authored 6 publications receiving 202 citations. Previous affiliations of Michelle A. Springer include Ohio State University & Nationwide Children's Hospital.
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Journal ArticleDOI
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort
Girish V. Putcha,Bassem A. Bejjani,Stacey L. Bleoo,Jessica K. Booker,John C. Carey,Nancy Carson,Soma Das,Melissa A Dempsey,Julie M. Gastier-Foster,John H. Greinwald,Marcy L. Hoffmann,Linda Jo Bone Jeng,Margaret A. Kenna,Ishrag Khababa,Margaret Lilley,Rong Mao,Kasinathan Muralidharan,Iris M. Otani,Heidi L. Rehm,Fred Schaefer,William K. Seltzer,Elaine B. Spector,Michelle A. Springer,Karen E. Weck,Richard J. Wenstrup,Stacey Withrow,Bai-Lin Wu,Maimoona A. Zariwala,Iris Schrijver +28 more
TL;DR: A considerable role for loci other than GJB2 and GJB6 in the etiology of autosomal recessive nonsyndromic sensorineural hearing loss is suggested, suggesting a considerable role in the study's results for novel pathogenic or benign variants.
Journal ArticleDOI
Increased calcium supplementation is associated with morbidity and mortality in the infant postoperative cardiac patient.
Peter C. Dyke,Andrew R. Yates,Clifford L. Cua,Timothy M. Hoffman,John R. Hayes,Timothy F. Feltes,Michelle A. Springer,Roozbeh Taeed,Roozbeh Taeed +8 more
TL;DR: Great calcium replacement is associated with increasing morbidity and mortality in infants after cardiac surgery involving cardiopulmonary bypass and further investigation of the etiology and therapy of hypocalcemia in this population is warranted.
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Male with mosaicism for supernumerary ring X chromosome: analysis of phenotype and characterization of genotype using array comparative genome hybridization.
Peter R. Baker,Anne Chun Hui Tsai,Michelle A. Springer,Karen Swisshelm,Jennifer March,Kathleen Brown,Gary Bellus +6 more
TL;DR: A male with mosaicism for a supernumerary X chromosome (46,XY/47,XY, r(X) who has multiple congenital anomalies, including features of craniofrontonasal dysplasia and the presence of ectopic female reproductive organs is described.
Journal ArticleDOI
High prevalence of array comparative genomic hybridization abnormalities in adults with unexplained intellectual disability
Matthew R.G. Taylor,Jean Jirikowic,Cara Wells,Michelle A. Springer,Loris McGavran,Brenda Lunt,Karen Swisshelm +6 more
TL;DR: The data showing abnormalities in 22% and 17% of overall patients and of cases with normal karyotypes, respectively, suggest that the yield of array comparative genomic hybridization in adults with unexplained intellectual disability may be higher than in pediatric populations.
Journal ArticleDOI
Recommendations for screening for thrombophilic tendencies in teenage females prior to contraceptive initiation.
Stephanie L. Savelli,Bryce A. Kerlin,Michelle A. Springer,Kay L. Monda,Jennifer D. Thornton,Carol A. Blanchong +5 more
TL;DR: It is important to note that VTEs are an increasingly recognized cause of pediatric morbidity and mortality and are at the greatest risk for developing thromboses.