Andrew H. Crosby

发表

The natural history of Noonan syndrome: a long-term follow-up study

M. Patton, A. Shaw, A. Crosby, 2006, Archives of Disease in Childhood.

07 Defective mitochondrial mRNA maturation is associated with spastic ataxia

H. Cross, M. Simpson, M. Patton, 2010, Journal of Neurology, Neurosurgery & Psychiatry.

Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.

E. Zackai, M. Simpson, M. Patton, 2007, American journal of human genetics.

Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish

H. Cross, M. Simpson, M. Patton, 2007, Heart.

Hypomorphic PCNA mutation underlies a human DNA repair disorder.

H. Cross, M. Patton, A. Taylor, 2014, The Journal of clinical investigation.

The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype.

R. Houlston, M. Patton, A. Crosby, 2001, American journal of human genetics.

Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2,DCN, EPS8, andRPL6

A. Ion, S. Dabora, I. Burgt, 2000, Journal of medical genetics.

Mutations in FAM20C also identified in non‐lethal osteosclerotic bone dysplasia

M. Simpson, M. Patton, H. Stewart, 2009, Clinical genetics.

Mapping of the human and mouse bone sialoprotein and osteopontin loci

C. Kozak, O. Mcbride, M. Dixon, 1996, Mammalian Genome.

Mapping of the human dentin matrix acidic phosphoprotein gene (DMP1) to the dentinogenesis imperfecta type II critical region at chromosome 4q21.

M. Dixon, A. Crosby, K. L. Hirst, 1995, Genomics.

Homozygous Mutation of Desmocollin-2 in Arrhythmogenic Right Ventricular Cardiomyopathy with Mild Palmoplantar Keratoderma and Woolly Hair

E. Behr, M. Simpson, M. Patton, 2008, Cardiology.

Hypomorphic PCNA mutation underlies a human DNA repair disorder.

S. Mansour, E. Baple, G. Harlalka, 2014, The Journal of clinical investigation.

A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23

M. Simpson, M. Patton, A. Crosby, 2008, Neurology.

TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies

T. Siddique, P. Dyck, C. Klein, 2011, Neurology.