John Accardi

Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in<i>C19orf12</i>

Guida Landouré, Peng-Peng Zhu, Charles Marques Lourenço et al. · Human Mutation · 2013 · 91 citations · Full text

Biology, Rare Diseases, Neurodegenerative Diseases +15

ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13

Yihan Zhang, Haigen Huang, Gexin Zhao et al. · PLoS Genetics · 2017 · 64 citations · Full text

Sclerostin, Developmental Biology, Short Stature +11

Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome

Jessica S. Albert, Nisan Bhattacharyya, Lynne A. Wolfe et al. · Orphanet Journal of Rare Diseases · 2015 · 35 citations · Full text

Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

Tyler Mark Pierson, Thomas C. Markello, John Accardi et al. · Neuromuscular Disorders · 2013 · 27 citations · Full text

Genetic Disorder, Exome Sequencing, Genetics +8