Angela L. Duker

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome

Angela L. Duker, Blake C. Ballif, Erawati V. Bawle et al. · European Journal of Human Genetics · 2010 · 316 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +9

Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis

Carol-Anne Martin, Jennie Murray, Paula Carroll et al. · Genes & Development · 2016 · 143 citations · Full text

Mitophagy, Brain Development, Genetics +23

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome

Amy Lacroix, Deborah L. Stabley, Rebecca Sahraoui et al. · The American Journal of Human Genetics · 2018 · 110 citations · Full text

Baratela-scott Syndrome, Ggc Repeat Expansion, Exon 1 +11

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

John J. Reynolds, Louise S. Bicknell, Paula Carroll et al. · Nature Genetics · 2017 · 109 citations · Full text

Genome Instability, Developmental Biology, Genetic Disorder +8

Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency

Jennie Murray, Louise S. Bicknell, Gökhan Yigit et al. · Human Mutation · 2013 · 85 citations · Full text