The American Journal of Human Genetics · 2009 · 302 citations · 35 references
MedicineGeneticsNeurologyMolecular NeurobiologyMolecular NeuroscienceNeurogeneticsHereditary NeuropathiesMitochondrial Neurological DisordersMotor Neuron DiseasesNeurodegenerative DiseasesNeurogenetic DisordersSpinocerebellar AtaxiasHereditary AtaxiasRepeat Expansion MutationsSpinocerebellar Ataxia Genetics
35
The DNA sequence of human chromosome 21
Masahira Hattori, Asao Fujiyama, Todd D. Taylor et al. · Nature · 2000 · 1.5K citations · Full text
Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of <i>ZNF9</i>
Christina L. Liquori, K. Ricker, Melinda L. Moseley et al. · Science · 2001 · 1.2K citations