A recurrent de novo DYNC1H1 tail domain mutation causes spinal muscular atrophy with lower extremity predominance, learning difficulties and mild brain abnormality

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

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Clinical application of whole-exome sequencing across clinical indications

Kyle Retterer, Jane Juusola, Megan T. Cho et al. · Genetics in Medicine · 2015 · 1.1K citations · Full text

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Mutations in the tail domain of <i>DYNC1H1</i> cause dominant spinal muscular atrophy

Matthew B. Harms, Kassandra M Ori-McKenney, Mariacristina Scoto et al. · Neurology · 2012 · 224 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Mutations in <i>DYNC1H1</i> cause severe intellectual disability with neuronal migration defects

Marjolein H. Willemsen, Lisenka E.L.M. Vissers, Michèl A.A.P. Willemsen et al. · Journal of Medical Genetics · 2012 · 182 citations

Life Sciences, Genetics, Neuroscience +17

Novel mutations expand the clinical spectrum of <i>DYNC1H1</i> -associated spinal muscular atrophy

Mariacristina Scoto, Alexander M. Rossor, Matthew B. Harms et al. · Neurology · 2015 · 129 citations · Full text

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