|
| 38054408 | Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group. | Genet Med | 2024 |
| 37473993 | Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield. | J Pediatr | 2023 |
| 37589028 | Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development. | Mol Syndromol | 2023 |
| 37534744 | The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change. | Genet Med | 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 |
| 37170750 | Maximizing the Detection of Copy Number Variants in the Highly Homologous Deafness-Infertility Syndrome Locus in Standard-of-care Testing. | Clin Chem | 2023 |
| 35232817 | A novel <i>TP53</i> tandem duplication in a child with Li-Fraumeni syndrome. | Cold Spring Harb Mol Case Stud | 2022 |
| 35870179 | Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss. | Hum Mutat | 2022 |
| 35932041 | Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism. | Mol Cytogenet | 2022 |
| 36086952 | Long-read sequencing for molecular diagnostics in constitutional genetic disorders. | Hum Mutat | 2022 |
| 35248119 | Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders. | Mol Cytogenet | 2022 |
| 35065284 | Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing? | J Mol Diagn | 2022 |
| 32886736 | Conventional Cytogenetic Analysis of Hematologic Neoplasms: A 20-Year Review of Proficiency Test Results From the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee. | Arch Pathol Lab Med | 2021 |
| 33704440 | CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders. | Brain | 2021 |
| 33077891 | Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results. | Genet Med | 2021 |
| 32277176 | A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia. | J Hum Genet | 2020 |
| 32000839 | A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data. | Genome Med | 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 |
| 32619790 | Evolution of histomorphologic, cytogenetic, and genetic abnormalities in an untreated patient with MIRAGE syndrome. | Cancer Genet | 2020 |
| 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 |
| 30977854 | Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy. | JAMA Netw Open | 2019 |
| 30577886 | Automated Clinical Exome Reanalysis Reveals Novel Diagnoses. | J Mol Diagn | 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 |
| 28960434 | Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders. | Am J Hematol | 2018 |
| 29915380 | Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). | Genet Med | 2018 |
| 30133189 | Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience. | Mol Genet Genomic Med | 2018 |
| 29907799 | Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss. | Genet Med | 2018 |
| 29902804 | Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency. | Horm Res Paediatr | 2018 |
| 30377334 | Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data. | Genet Med | 2018 |
| 30289601 | Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis. | Am J Med Genet A | 2018 |
| 30566958 | The Recurrent t(11;22)(q23;q11.2) Can Occur as a Post-Zygotic Event. | Cytogenet Genome Res | 2018 |
| 30302900 | Diploid/triploid mixoploidy: A consequence of asymmetric zygotic segregation of parental genomes. | Am J Med Genet A | 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 |
| 29130632 | DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia. | Am J Med Genet A | 2018 |
| 27811861 | A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories. | Genet Med | 2017 |
| 28180185 | Precision therapy for a new disorder of AMPA receptor recycling due to mutations in <i>ATAD1</i>. | Neurol Genet | 2017 |
| 28806457 | Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes. | JAMA Neurol | 2017 |
| 28504353 | CMIP haploinsufficiency in two patients with autism spectrum disorder and co-occurring gastrointestinal issues. | Am J Med Genet A | 2017 |
| 26756113 | Histologic and Molecular Profile of Pediatric Insulinomas: Evidence of a Paternal Parent-of-Origin Effect. | J Clin Endocrinol Metab | 2016 |
| 26545876 | Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome. | J Med Genet | 2016 |
| 26248010 | Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure. | Genet Med | 2016 |
| 27392081 | Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. | Am J Hum Genet | 2016 |
| 27247953 | Mosaic ratio quantification of isochromosome 12p in Pallister-Killian syndrome using droplet digital PCR. | Mol Genet Genomic Med | 2016 |
| 27181684 | Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. | Am J Hum Genet | 2016 |
| 25637381 | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. | Genome Res | 2015 |
| 26436111 | EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features. | Mol Genet Genomic Med | 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 |