Malcolm F. Howard

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Jenny C. Taylor, Hilary C. Martin, Stefano Lise et al. · Nature Genetics · 2015 · 388 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation

Malcolm F. Howard, Yoshiko Murakami, Alistair T. Pagnamenta et al. · The American Journal of Human Genetics · 2014 · 107 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Deletions and de novo mutations of <i>SOX11</i> are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome

Annmarie Hempel, Alistair T. Pagnamenta, Moira Blyth et al. · Journal of Medical Genetics · 2015 · 88 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis

Alistair T. Pagnamenta, Malcolm F. Howard, Éva Wisniewski et al. · Human Molecular Genetics · 2015 · 79 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders

Alistair T. Pagnamenta, Yoshiko Murakami, John Taylor et al. · European Journal of Human Genetics · 2017 · 76 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17