Joan Atkin

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Claire Redin, Harrison Brand, Ryan L. Collins et al. · Nature Genetics · 2016 · 346 citations · Full text

Human Congenital Anomalies, Developmental Anomaly, Developmental Biology +8

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

Jean‐Baptiste Rivière, Bregje W.M. van Bon, Alexander Hoischen et al. · Nature Genetics · 2012 · 304 citations · Full text

Baraitser-winter Syndrome, Genetic Disorder, Genetics +6

Confirmation study of <i>PTEN</i> mutations among individuals with autism or developmental delays/mental retardation and macrocephaly

Kim L. McBride, Matthew Pastore, Thomas W. Prior et al. · Autism Research · 2010 · 230 citations

Genetics, Pten Mutation, Confirmation Study +21

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes et al. · Human Mutation · 2015 · 188 citations · Full text

Genetics, Genetic Epidemiology, Pathology +17

Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region

Justine Coppinger, Donna M. McDonald‐McGinn, E. Zackai et al. · Human Molecular Genetics · 2009 · 105 citations · Full text