Malcolm F. Howard

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

Davis J. McCarthy, Calliope A. Dendrou, Lisa J. Murray, 2015, Nature Genetics.

Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.

A. Pagnamenta, P. Robinson, D. Horn, 2014, American journal of human genetics.

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

A. Pagnamenta, A. Battaglia, D. Keays, 2015, Journal of Medical Genetics.

Activation of an exonic splice‐donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities

A. Pagnamenta, D. Keays, S. Knight, 2016, Clinical case reports.

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

A. Pagnamenta, N. Popitsch, D. Keays, 2015, Human molecular genetics.

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

A. Pagnamenta, N. Popitsch, Jenny C. Taylor, 2017, European Journal of Human Genetics.

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

D. MacArthur, A. Pagnamenta, N. Popitsch, 2015, Human molecular genetics.