R. Sean Hill
Auckland City Hospital(NZ)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Autism Spectrum Disorder Research, Genomic variations and chromosomal abnormalities, Microtubule and mitosis dynamics
Most-Cited Works
- → Synaptic, transcriptional and chromatin genes disrupted in autism(2014)2,891 cited
- → G Protein-Coupled Receptor-Dependent Development of Human Frontal Cortex(2004)521 cited
- → Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations(2012)475 cited
- → Using Whole-Exome Sequencing to Identify Inherited Causes of Autism(2013)457 cited
- → Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome(2004)411 cited
- → The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies(2016)350 cited
- → Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes(2007)315 cited
- → Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly(2011)222 cited
- → Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome(2012)183 cited
- → Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures(2014)136 cited