Joan Atkin
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Prenatal Screening and Diagnostics, Epigenetics and DNA Methylation, Congenital heart defects research, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies(2016)350 cited
- → Verification of the fetal valproate syndrome phenotype(1988)306 cited
- → De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome(2012)305 cited
- → Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly(2010)234 cited
- → High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation(2015)189 cited
- → Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region(2009)105 cited
- → Colocalization of Prolactin and Growth Hormone within Specific Adenohypophyseal Cells in Male, Female, and Lactating Female Rats(1987)102 cited
- → Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay(2011)77 cited
- → Imprinting Status of 11p15 Genes in Beckwith–Wiedemann Syndrome Patients with CDKN1C Mutations(2001)60 cited
- → A new X‐linked mental retardation syndrome(1985)56 cited