Bonthron, David T.

Top Publications

Top Publications Authored or Co-Authored by "Bonthron, David T."

• Mutations causing familial biparental hydatidiform mole implicate C6orf221 as a possible regulator of genomic imprinting in the human oocyte

  American Journal of Human Genetics, Volume 89, No. 3, Year 2011, Citations 213
• Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

  Nature Genetics, Volume 43, No. 12, Year 2011, Citations 89
• Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

  Human Mutation, Volume 33, No. 8, Year 2012, Citations 74
• Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

  Neuron, Volume 109, No. 2, Year 2021, Citations 37
• Sams, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in goosecoid

  American Journal of Human Genetics, Volume 93, No. 6, Year 2013, Citations 14