Parul Jayakar

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

Nicola Brunetti‐Pierri, Alex R. Paciorkowski, Roberto Ciccone et al. · European Journal of Human Genetics · 2010 · 188 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

Anke Van Dijck, Anneke T. Vulto‐van Silfhout, Elisa Cappuyns et al. · Biological Psychiatry · 2018 · 182 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization

Yao‐Shan Fan, Parul Jayakar, Hongbo Zhu et al. · Human Mutation · 2007 · 124 citations

Life Sciences, Genetics, Molecular Genetics +17

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

Rita Horváth, John P. Kemp, Helen Tuppen et al. · Brain · 2009 · 121 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Interruptions in the Expanded ATTCT Repeat of Spinocerebellar Ataxia Type 10: Repeat Purity as a Disease Modifier?

Tohru Matsuura, Ping Fang, Christopher E. Pearson et al. · The American Journal of Human Genetics · 2005 · 108 citations · Full text

Life Sciences, Genetics, Neurology +17