Publications by authors named "Malcolm F Howard"

Claim this Profile
A
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 M Taylor, Consuelo Anzilotti, Malcolm F Howard

Eur J Hum Genet· June 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Activation of an exonic splice-donor site in exon 30 of in a patient with severe microcephaly and pigmentary abnormalities.
Alistair T Pagnamenta, Malcolm F Howard, Samantha J L Knight, David A Keays, Gerardine Quaghebeur

Clin Case Rep· October 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.
Annmarie Hempel, Alistair T Pagnamenta, Moira Blyth, Sahar Mansour, Vivienne McConnell, Malcolm F Howard

J Med Genet· March 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.
Biljana Ilkovski, Alistair T Pagnamenta, Gina L O'Grady, Taroh Kinoshita, Malcolm F Howard

Hum Mol Genet· November 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
Alistair T Pagnamenta, Malcolm F Howard, Eva Wisniewski, Niko Popitsch, Samantha J L Knight

Hum Mol Genet· July 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.
Malcolm F Howard, Yoshiko Murakami, Alistair T Pagnamenta, Cornelia Daumer-Haas, Björn Fischer

Am J Hum Genet· February 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis