|
| 34414661 | The phenotypic spectrum of AMER1-related osteopathia striata with cranial sclerosis: The first Canadian cohort. | American Journal of Medical Genetics, Part A | 2021 |
| 34727967 | Neonatal abstinence syndrome is a potential cause of low TREC copy number. | Allergy, Asthma and Clinical Immunology | 2021 |
| 32532876 | A recurrent de novo variant is associated with hypomyelinating leukodystrophy. | Cold Spring Harbor molecular case studies | 2020 |
| 31949312 | Defining the clinical phenotype of Saul-Wilson syndrome. | Genet Med | 2020 |
| 32109418 | Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders. | Am J Hum Genet | 2020 |
| 31820119 | Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. | Acta Neuropathol | 2020 |
| 30929737 | Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions. | Am J Hum Genet | 2019 |
| 31585108 | Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay. | Am J Hum Genet | 2019 |
| 29861108 | De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder. | Am J Hum Genet | 2018 |
| 30500825 | De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay. | PLoS Genet | 2018 |
| 30290151 | A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. | Am J Hum Genet | 2018 |
| 28852705 | The Sweat Metabolome of Screen-Positive Cystic Fibrosis Infants: Revealing Mechanisms beyond Impaired Chloride Transport. | ACS Central Science | 2017 |
| 23632792 | Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder. | Eur J Hum Genet | 2014 |
| 22085900 | Severe intellectual disability and autistic features associated with microduplication 2q23.1. | Eur J Hum Genet | 2012 |