Andrew Orr

Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia

Duane L. Guernsey, Haiyan Jiang, Dean R. Campagna et al. · Nature Genetics · 2009 · 243 citations

Mendelian Disorder, Genetic Disorder, Genetics +8

Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4

Duane L. Guernsey, Haiyan Jiang, Julie Hussin et al. · The American Journal of Human Genetics · 2010 · 194 citations · Full text

Developmental Biology, Cell Division, Molecular Genetics +3

Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome

Duane L. Guernsey, Makoto Matsuoka, Haiyan Jiang et al. · Nature Genetics · 2011 · 171 citations

Allelic Variant, Mendelian Disorder, Genetic Disorder +6

Mutations in the UBIAD1 Gene, Encoding a Potential Prenyltransferase, Are Causal for Schnyder Crystalline Corneal Dystrophy

Andrew Orr, Marie‐Pierre Dubé, Julien Marcadier et al. · PLoS ONE · 2007 · 164 citations · Full text

Genetics, Genetic Epidemiology, Molecular Biology +18

Mutation in Pyrroline-5-Carboxylate Reductase 1 Gene in Families with Cutis Laxa Type 2

Duane L. Guernsey, Haiyan Jiang, Susan C. Evans et al. · The American Journal of Human Genetics · 2009 · 92 citations · Full text

Genetics, Biochemical Genetics, Molecular Biology +5