|
| 36036223 | Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study. | Hepatology | 2023 |
| 36069569 | Serum biomarkers correlated with liver stiffness assessed in a multicenter study of pediatric cholestatic liver disease. | Hepatology | 2023 |
| 34969639 | Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease. | Mol Genet Metab | 2022 |
| 35870179 | Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss. | Hum Mutat | 2022 |
| 36116036 | Human Mutation special issue on innovations in genomic diagnostics. | Hum Mutat | 2022 |
| 33077891 | Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results. | Genet Med | 2021 |
| 33369123 | Alagille syndrome and risk for hepatocellular carcinoma: Need for increased surveillance in adults with mild liver phenotypes. | Am J Med Genet A | 2021 |
| 32505743 | Impaired Redox and Protein Homeostasis as Risk Factors and Therapeutic Targets in Toxin-Induced Biliary Atresia. | Gastroenterology | 2020 |
| 32066793 | Exome Sequencing in Individuals with Isolated Biliary Atresia. | Sci Rep | 2020 |
| 31944481 | Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease. | Hum Mutat | 2020 |
| 32102930 | A Centralized Approach for Practicing Genomic Medicine. | Pediatrics | 2020 |
| 33313463 | Outcomes of Childhood Cholestasis in Alagille Syndrome: Results of a Multicenter Observational Study. | Hepatol Commun | 2020 |
| 32661356 | A six-attribute classification of genetic mosaicism. | Genet Med | 2020 |
| 32733828 | Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution. | Front Pediatr | 2020 |
| 30664273 | Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome. | Hepatology | 2019 |
| 30804517 | Expanded non-invasive prenatal diagnostics. | Nat Med | 2019 |
| 30977854 | Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy. | JAMA Netw Open | 2019 |
| 30626929 | Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach. | Eur J Hum Genet | 2019 |
| 30287922 | Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study. | Genet Med | 2019 |
| 30670880 | Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study. | Genet Med | 2019 |
| 28960434 | Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders. | Am J Hematol | 2018 |
| 30102696 | A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1. | PLoS Genet | 2018 |
| 29907799 | Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss. | Genet Med | 2018 |
| 30377334 | Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data. | Genet Med | 2018 |
| 30302900 | Diploid/triploid mixoploidy: A consequence of asymmetric zygotic segregation of parental genomes. | Am J Med Genet A | 2018 |
| 28345240 | Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations. | Prenat Diagn | 2018 |
| 29389922 | Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data. | Genet Med | 2018 |
| 29419820 | Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data. | Genet Med | 2018 |
| 29595809 | AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss. | Genet Med | 2018 |
| 25207474 | A Challenging Case of Focal Extrahepatic Duct Obstruction/Hypoplasia in Alagille Syndrome. | J Pediatr Gastroenterol Nutr | 2017 |
| 28229350 | "Set in Stone" or "Ray of Hope": Parents' Beliefs About Cause and Prognosis After Genomic Testing of Children Diagnosed with ASD. | J Autism Dev Disord | 2017 |
| 29270332 | Alagille syndrome: Genetics and Functional Models. | Curr Pathobiol Rep | 2017 |
| 28504353 | CMIP haploinsufficiency in two patients with autism spectrum disorder and co-occurring gastrointestinal issues. | Am J Med Genet A | 2017 |
| 27811861 | A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories. | Genet Med | 2017 |
| 26201540 | Early life predictive markers of liver disease outcome in an International, Multicentre Cohort of children with Alagille syndrome. | Liver Int | 2016 |
| 28090565 | <i>THBS2</i> Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome. | Cell Mol Gastroenterol Hepatol | 2016 |
| 26463753 | Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non-genetic factors. | Am J Med Genet A | 2016 |
| 26248010 | Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure. | Genet Med | 2016 |
| 26548814 | Jagged1 (JAG1): Structure, expression, and disease associations. | Gene | 2016 |
| 27392080 | Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. | Am J Hum Genet | 2016 |
| 27171546 | Recommendations for the integration of genomics into clinical practice. | Genet Med | 2016 |
| 27388938 | Sequencing-based diagnostics for pediatric genetic diseases: progress and potential. | Expert Rev Mol Diagn | 2016 |
| 27181682 | Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. | Am J Hum Genet | 2016 |
| 27097074 | Cytogenetic highlights and transitions. | Am J Med Genet C Semin Med Genet | 2016 |
| 26697755 | Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies. | Am J Med Genet A | 2016 |
| 25465847 | Moyamoya syndrome associated with Alagille syndrome: outcome after surgical revascularization. | J Pediatr | 2015 |
| 26187847 | Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death. | Hum Genomics | 2015 |
| 26198585 | Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies. | Am J Med Genet A | 2015 |
| 26066358 | Parents' perceptions of the usefulness of chromosomal microarray analysis for children with autism spectrum disorders. | J Autism Dev Disord | 2015 |
| 26140447 | Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents. | Am J Hum Genet | 2015 |