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| 35130078 | Epidemiology of Hospital Admissions for Craniosynostosis in Australia: A Population-Based Study. | Cleft Palate Craniofac J | 2023 |
| 38027298 | Surfacing undiagnosed disease: consideration, counting and coding. | Front Pediatr | 2023 |
| 37030611 | Hospitalizations from Birth to 28Â Years in a Population Cohort of Individuals Born with Five Rare Craniofacial Anomalies in Western Australia. | J Pediatr | 2023 |
| 37147854 | Prevalence and trends for Aboriginal and Torres Strait Islander children living with cerebral palsy: A birds-eye view. | Dev Med Child Neurol | 2023 |
| 36899143 | Patterns, trends, and factors influencing hospitalizations for craniosynostosis in Western Australia. A population-based study. | Eur J Pediatr | 2023 |
| 37143205 | Trends in prenatal diagnosis of congenital anomalies in Western Australia between 1980 and 2020: A population-based study. | Paediatr Perinat Epidemiol | 2023 |
| 36947507 | 3D facial analysis for rare disease diagnosis and treatment monitoring: Proof-Of-Concept plan for hereditary angioedema. | PLOS Digit Health | 2023 |
| 37377026 | Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms. | Am J Med Genet A | 2023 |
| 36935719 | Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International. | Front Public Health | 2023 |
| 35130078 | Epidemiology of Hospital Admissions for Craniosynostosis in Australia: A Population-Based Study. | Cleft Palate Craniofac J | 2023 |
| 38027298 | Surfacing undiagnosed disease: consideration, counting and coding. | Front Pediatr | 2023 |
| 36947507 | 3D facial analysis for rare disease diagnosis and treatment monitoring: Proof-Of-Concept plan for hereditary angioedema. | PLOS Digit Health | 2023 |
| 37147854 | Prevalence and trends for Aboriginal and Torres Strait Islander children living with cerebral palsy: A birds-eye view. | Dev Med Child Neurol | 2023 |
| 37143205 | Trends in prenatal diagnosis of congenital anomalies in Western Australia between 1980 and 2020: A population-based study. | Paediatr Perinat Epidemiol | 2023 |
| 37377026 | Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms. | Am J Med Genet A | 2023 |
| 37030611 | Hospitalizations from Birth to 28Â Years in a Population Cohort of Individuals Born with Five Rare Craniofacial Anomalies in Western Australia. | J Pediatr | 2023 |
| 36935719 | Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International. | Front Public Health | 2023 |
| 36899143 | Patterns, trends, and factors influencing hospitalizations for craniosynostosis in Western Australia. A population-based study. | Eur J Pediatr | 2023 |
| 34626670 | Epidemiology of Rare Craniofacial Anomalies: Retrospective Western Australian Population Data Linkage Study. | J Pediatr | 2022 |
| 35904121 | Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders. | Hum Mutat | 2022 |
| 35705716 | The GA4GH Phenopacket schema defines a computable representation of clinical data. | Nat Biotechnol | 2022 |
| 36229163 | Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome. | AJNR Am J Neuroradiol | 2022 |
| 35892614 | Development of an International Database for a Rare Genetic Disorder: The <i>MECP2</i> Duplication Database (MDBase). | Children (Basel) | 2022 |
| 35645043 | Further evidence for distinct traits associated with RBM10 missense variants. | Clin Genet | 2022 |
| 35441707 | Common data elements to standardize genomics studies in cerebral palsy. | Dev Med Child Neurol | 2022 |
| 36002448 | Investigating disparity in access to Australian clinical genetic health services for Aboriginal and Torres Strait Islander people. | Nat Commun | 2022 |
| 35626810 | Medical Comorbidities in <i>MECP2</i> Duplication Syndrome: Results from the International <i>MECP2</i> Duplication Database. | Children (Basel) | 2022 |
| 35678518 | The risk of major structural birth defects associated with seasonal influenza vaccination during pregnancy: A population-based cohort study. | Birth Defects Res | 2022 |
| 35549752 | Unlocking sociocultural and community factors for the global adoption of genomic medicine. | Orphanet J Rare Dis | 2022 |
| 35923780 | Editorial: Congenital anomalies: State of the art and the new paradigms for a precision public health approach. | Front Pediatr | 2022 |
| 35858754 | Refining nosology by modelling variation among facial phenotypes: the RASopathies. | J Med Genet | 2022 |
| 35352007 | Association between craniofacial anomalies, intellectual disability and autism spectrum disorder: Western Australian population-based study. | Pediatr Res | 2022 |
| 36536417 | Rare disease education in Europe and beyond: time to act. | Orphanet J Rare Dis | 2022 |
| 34410170 | Description of Total Population Hospital Admissions for Treacher Collins Syndrome in Australia. | Cleft Palate Craniofac J | 2022 |
| 34626670 | Epidemiology of Rare Craniofacial Anomalies: Retrospective Western Australian Population Data Linkage Study. | J Pediatr | 2022 |
| 35313898 | A brief history of MECP2 duplication syndrome: 20-years of clinical understanding. | Orphanet J Rare Dis | 2022 |
| 34427008 | Paediatric genomic testing: Navigating genomic reports for the general paediatrician. | J Paediatr Child Health | 2022 |
| 35139903 | CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiency. | Stem Cell Res Ther | 2022 |
| 35079160 | Research on rare diseases: ten years of progress and challenges at IRDiRC. | Nat Rev Drug Discov | 2022 |
| 35176430 | Functional validation of variants of unknown significance using CRISPR gene editing and transcriptomics: A Kleefstra syndrome case study. | Gene | 2022 |
| 35678518 | The risk of major structural birth defects associated with seasonal influenza vaccination during pregnancy: A population-based cohort study. | Birth Defects Res | 2022 |
| 35549752 | Unlocking sociocultural and community factors for the global adoption of genomic medicine. | Orphanet J Rare Dis | 2022 |
| 35352007 | Association between craniofacial anomalies, intellectual disability and autism spectrum disorder: Western Australian population-based study. | Pediatr Res | 2022 |
| 35441707 | Common data elements to standardize genomics studies in cerebral palsy. | Dev Med Child Neurol | 2022 |
| 35705716 | The GA4GH Phenopacket schema defines a computable representation of clinical data. | Nat Biotechnol | 2022 |
| 35645043 | Further evidence for distinct traits associated with RBM10 missense variants. | Clin Genet | 2022 |
| 35626810 | Medical Comorbidities in <i>MECP2</i> Duplication Syndrome: Results from the International <i>MECP2</i> Duplication Database. | Children (Basel) | 2022 |
| 35858754 | Refining nosology by modelling variation among facial phenotypes: the RASopathies. | J Med Genet | 2022 |
| 36536417 | Rare disease education in Europe and beyond: time to act. | Orphanet J Rare Dis | 2022 |
| 36002448 | Investigating disparity in access to Australian clinical genetic health services for Aboriginal and Torres Strait Islander people. | Nat Commun | 2022 |