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American Journal of Medical Genetics. Part A|March 18, 2009
A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian familyKathryn P Burdon, Shane R Durkin, Mary Burke, et al.
Human Mutation|September 10, 2015
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual DisabilityDetelina Grozeva, Keren Carss, Olivera Spasic-Boskovic, et al.
Public Health Genomics|September 19, 2021
People with Cerebral Palsy and Their Family's Preferences about Genomics ResearchYana Alexandra Wilson, Sarah McIntyre, Emma Waight, et al.
American Journal of Medical Genetics. Part A|November 27, 2014
Phenotypes of AKT3 deletion: a case report and literature reviewDayu Gai, Eric Haan, Matthew Scholar, et al.
Translational Psychiatry|January 27, 2024
Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsyRebekah de Nys, Clare L van Eyk, Tarin Ritchie, et al.
Translational Psychiatry|April 24, 2018
Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autismClare L van Eyk, Mark A Corbett, Alison Gardner, et al.
Scientific Reports|December 11, 2025
TMT-based quantitative proteomic assessment of Vicia sativa induced neurotoxicity by β-cyano-L-alanine and γ-glutamyl-β-cyano-L-alanine in SH-SY5Y cellsSamuel Riley, Vy Nguyen, Rudrarup Bhattacharjee, et al.
International Journal of Pediatric Otorhinolaryngology|April 27, 2005
Familial Parry-Romberg diseasePeter J Anderson, Darren Molony, Eric Haan, et al.
Clinical Dysmorphology|April 5, 2008
Ocular colobomata, polydactyly, cleft palate and panhypopituitarism: a new syndromeCaroline Laforest, Igal Leibovitch, Dinesh Selva, et al.
Human Molecular Genetics|November 27, 2018
Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disabilityFrancesca Mattioli, Bertrand Isidor, Omar Abdul-Rahman, et al.
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