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Clinical Journal of the American Society of Nephrology : CJASN|June 21, 2017
Calcium-Sensing Receptor Genotype and Response to Cinacalcet in Patients Undergoing HemodialysisSharon M Moe, Leah Wetherill, Brian Scott Decker, et al.American Journal of Medical Genetics. Part A|June 28, 2017
A prenatal diagnosis of mosaic trisomy 5 reveals a postnatal complete uniparental disomy of chromosome 5 with multiple congenital anomaliesAndrew M Reittinger, Benjamin M Helm, Debra J Boles, et al.European Journal of Medical Genetics|June 2, 2023
Disruption of FBN1 by an Alu element insertion: A novel genetic cause of Marfan syndromeBenjamin M Helm, Amanda M Smith, Kelly Schmit, et al.Journal of Genetic Counseling|October 12, 2022
A descriptive investigation of clinical practice models used by cardiovascular genetic counselors in North AmericaAllison F Rickman, Sara M Fitzgerald-Butt, Katherine G Spoonamore, et al.Journal of Genetic Counseling|June 24, 2025
Evaluating first-line genetic testing strategies for inpatients with congenital heart defectsAl Lindstrom, Amy Breman, Sara Fitzgerald-Butt, et al.European Journal of Medical Genetics|October 27, 2019
An adult female with 5q34-q35.2 deletion: A rare syndromic presentation of left ventricular non-compaction and congenital heart diseasePriyanka Arya, Theodore E Wilson, John J Parent, et al.Cardiology in the Young|September 4, 2019
Clinical characterisation of a novel SCN5A variant associated with progressive malignant arrhythmia and dilated cardiomyopathyAdam C Kean, Benjamin M Helm, Matteo Vatta, et al.Biorxiv : the Preprint Server for Biology|July 10, 2023
Mutations in the Bone Morphogenetic Protein signaling pathway sensitize zebrafish and humans to ethanol-induced jaw malformationsJohn R Klem, Tae-Hwi Schwantes-An, Marco Abreu, et al.American Journal of Medical Genetics. Part A|March 5, 2015
Mosaic trisomy 15 in a liveborn infantJacob McPadden, Benjamin M Helm, Brooke B Spangler, et al.Pediatrics|June 25, 2025
Standardized Criteria for Genomic Testing in the NICUBenjamin M Helm, Matthew Hays, Kayleigh A Swaggart, et al.Pageof 16