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American Journal of Medical Genetics. Part A|December 20, 2013
Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutationKandamurugu Manickam, Daniel J Donoghue, April N Meyer, et al.
The Journal of Molecular Diagnostics : JMD|May 3, 2002
A 39-bp deletion polymorphism in PTEN in African American individuals: implications for molecular diagnostic testingXiao-Ping Zhou, Heather Hampel, Jennifer Roggenbuck, et al.
Annals of Neurology|July 29, 2005
Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cellsSusanna M Grzeschik, Madhuri Ganta, Thomas W Prior, et al.
Human Molecular Genetics|May 2, 2017
A-44G transition in SMN2 intron 6 protects patients with spinal muscular atrophyXingxing Wu, Shu-Huei Wang, Junjie Sun, et al.
European Journal of Human Genetics : EJHG|May 26, 2011
A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US HutteritesJessica X Chong, A Afşin Oktay, Zunyan Dai, et al.
The Journal of Molecular Diagnostics : JMD|April 29, 2006
Detection of common disease-causing mutations in mitochondrial DNA (mitochondrial encephalomyopathy, lactic acidosis with stroke-like episodes MTTL1 3243 A>G and myoclonic epilepsy associated with ragged-red fibers MTTK 8344A>G) by real-time polymerase chain reactionHongxin Fan, Chris Civalier, Jessica K Booker, et al.
American Journal of Medical Genetics. Part A|April 6, 2011
SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunctionSara Andrabi, Mir Reza Bekheirnia, Patricia Robbins-Furman, et al.
Texas Heart Institute Journal|August 23, 2016
Serum versus Imaging Biomarkers in Friedreich Ataxia to Indicate Left Ventricular Remodeling and OutcomesNishaki Mehta, Paul Chacko, James Jin, et al.
Clinical Chemistry|April 12, 2012
Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profilingSteven F Dobrowolski, Ha T Pham, Frances Pouch Downes, et al.
Human Mutation|April 14, 2025
Clinical SMN1 and SMN2 Gene-Specific Sequencing to Enhance the Clinical Sensitivity of Spinal Muscular Atrophy Diagnostic TestingCecelia R Miller, Jin Fang, Pamela Snyder, et al.
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