| 37473993 | Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield. | J Pediatr | 2023 |
| 37087635 | Dominant-negative variants in CBX1 cause a neurodevelopmental disorder. | Genet Med | 2023 |
| 34927671 | Alternative Sample Matrices Supporting Remote Sample Collection during the Pandemic and Beyond. | Clin Chem | 2022 |
| 35065284 | Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing? | J Mol Diagn | 2022 |
| 34969639 | Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease. | Mol Genet Metab | 2022 |
| 32906214 | Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation. | Hum Mutat | 2020 |
| 32733828 | Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution. | Front Pediatr | 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 |
| 31479473 | Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes. | PLoS One | 2019 |
| 30577886 | Automated Clinical Exome Reanalysis Reveals Novel Diagnoses. | J Mol Diagn | 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 |
| 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 |
| 29595809 | AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss. | Genet Med | 2018 |
| 27181684 | Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. | Am J Hum Genet | 2016 |
| 27392081 | Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. | Am J Hum Genet | 2016 |
| 25730767 | Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin. | Nat Genet | 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 |
| 25637381 | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. | Genome Res | 2015 |
| 25047600 | Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology. | BMC Bioinformatics | 2014 |
| 23077985 | TNF promoter SNP variation in Amerindians and white-admixed women from Misiones, Argentina. | Int J Immunogenet | 2013 |
| 24040292 | Genetic background and climatic droplet keratopathy incidence in a Mapuche population from Argentina. | PLoS One | 2013 |
| 24195999 | Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium. | Genet Med | 2013 |
| 22281367 | Mitochondrial DNA and Y chromosome variation provides evidence for a recent common ancestry between Native Americans and Indigenous Altaians. | Am J Hum Genet | 2012 |
| 22586127 | Y-chromosome analysis reveals genetic divergence and new founding native lineages in Athapaskan- and Eskimoan-speaking populations. | Proc Natl Acad Sci U S A | 2012 |
| 22549307 | Clan, language, and migration history has shaped genetic diversity in Haida and Tlingit populations from Southeast Alaska. | Am J Phys Anthropol | 2012 |
| 21253579 | Dissecting the within-Africa ancestry of populations of African descent in the Americas. | PLoS One | 2011 |
| 21994016 | Genetic ancestry and indigenous heritage in a Native American descendant community in Bermuda. | Am J Phys Anthropol | 2011 |
| 22011106 | Mitochondrial genome sequence analysis: a custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy. | BMC Bioinformatics | 2011 |
| 21412412 | Y-chromosome variation in Altaian Kazakhs reveals a common paternal gene pool for Kazakhs and the influence of Mongolian expansions. | PLoS One | 2011 |
| 20229500 | Genetic heritage and native identity of the Seaconke Wampanoag tribe of Massachusetts. | Am J Phys Anthropol | 2010 |
| 19946364 | Evaluation of group genetic ancestry of populations from Philadelphia and Dakar in the context of sex-biased admixture in the Americas. | PLoS One | 2009 |
| 18322915 | Genetic variation in the enigmatic Altaian Kazakhs of South-Central Russia: insights into Turkic population history. | Am J Phys Anthropol | 2008 |
| 19130794 | Russian Old Believers: genetic consequences of their persecution and exile, as shown by mitochondrial DNA evidence. | Hum Biol | 2008 |