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| 36808868 | Co-occurrence of Proteus syndrome and ventricular tachycardia cardiac arrest in a teenager. | Am J Med Genet A | 2023 |
| 36808868 | Co-occurrence of Proteus syndrome and ventricular tachycardia cardiac arrest in a teenager. | Am J Med Genet A | 2023 |
| 37435845 | Clinical and molecular heterogeneity of syndromic hypothalamic hamartoma. | Am J Med Genet A | 2023 |
| 37435845 | Clinical and molecular heterogeneity of syndromic hypothalamic hamartoma. | Am J Med Genet A | 2023 |
| 34906458 | The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq cohort. | Genet Med | 2022 |
| 35849058 | Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility. | Hum Mol Genet | 2022 |
| 35753512 | Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations. | J Allergy Clin Immunol | 2022 |
| 34906458 | The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq cohort. | Genet Med | 2022 |
| 35753512 | Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations. | J Allergy Clin Immunol | 2022 |
| 35849058 | Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility. | Hum Mol Genet | 2022 |
| 34040190 | Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth. | Genet Med | 2021 |
| 33832433 | Low-level variant calling for non-matched samples using a position-based and nucleotide-specific approach. | BMC Bioinformatics | 2021 |
| 34040190 | Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth. | Genet Med | 2021 |
| 33767344 | Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility. | Genet Med | 2021 |
| 33719903 | Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism. | Ophthalmic Genet | 2021 |
| 35051255 | Erratum: Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the <i>PIK3CA</i>-related overgrowth spectrum. | HGG Adv | 2021 |
| 33719903 | Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism. | Ophthalmic Genet | 2021 |
| 33767344 | Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility. | Genet Med | 2021 |
| 33832433 | Low-level variant calling for non-matched samples using a position-based and nucleotide-specific approach. | BMC Bioinformatics | 2021 |
| 35051255 | Erratum: Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the <i>PIK3CA</i>-related overgrowth spectrum. | HGG Adv | 2021 |
| 33108757 | Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies. | Am J Hum Genet | 2020 |
| 33108757 | Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies. | Am J Hum Genet | 2020 |
| 35047831 | Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the <i>PIK3CA</i>-related overgrowth spectrum. | HGG Adv | 2020 |
| 35047831 | Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the <i>PIK3CA</i>-related overgrowth spectrum. | HGG Adv | 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 |
| 30287922 | Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study. | Genet Med | 2019 |
| 29997389 | Health behaviors among unaffected participants following receipt of variants of uncertain significance in cardiomyopathy-associated genes. | Genet Med | 2019 |
| 30842225 | <i>NAA10</i> polyadenylation signal variants cause syndromic microphthalmia. | J Med Genet | 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 |
| 30827496 | Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. | Am J Hum Genet | 2019 |
| 29997389 | Health behaviors among unaffected participants following receipt of variants of uncertain significance in cardiomyopathy-associated genes. | Genet Med | 2019 |
| 30842225 | <i>NAA10</i> polyadenylation signal variants cause syndromic microphthalmia. | J Med Genet | 2019 |
| 30827496 | Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. | Am 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 |
| 28771245 | Reactions to clinical reinterpretation of a gene variant by participants in a sequencing study. | Genet Med | 2018 |
| 28771245 | Reactions to clinical reinterpretation of a gene variant by participants in a sequencing study. | Genet Med | 2018 |
| 30122538 | Evaluation of Recipients of Positive and Negative Secondary Findings Evaluations in a Hybrid CLIA-Research Sequencing Pilot. | Am J Hum Genet | 2018 |
| 30449416 | Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome. | Am J Hum Genet | 2018 |
| 30583724 | Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls. | Genome Med | 2018 |
| 29356820 | Web Platform vs In-Person Genetic Counselor for Return of Carrier Results From Exome Sequencing: A Randomized Clinical Trial. | JAMA Intern Med | 2018 |
| 29526281 | Outcomes of Counseling after Education about Carrier Results: A Randomized Controlled Trial. | Am J Hum Genet | 2018 |
| 29383714 | Disclosure of cardiac variants of uncertain significance results in an exome cohort. | Clin Genet | 2018 |
| 29469822 | Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. | Genet Med | 2018 |
| 30122538 | Evaluation of Recipients of Positive and Negative Secondary Findings Evaluations in a Hybrid CLIA-Research Sequencing Pilot. | Am J Hum Genet | 2018 |
| 30449416 | Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome. | Am J Hum Genet | 2018 |
| 30583724 | Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls. | Genome Med | 2018 |
| 29526281 | Outcomes of Counseling after Education about Carrier Results: A Randomized Controlled Trial. | Am J Hum Genet | 2018 |
| 29469822 | Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. | Genet Med | 2018 |
| 29383714 | Disclosure of cardiac variants of uncertain significance results in an exome cohort. | Clin Genet | 2018 |
| 29356820 | Web Platform vs In-Person Genetic Counselor for Return of Carrier Results From Exome Sequencing: A Randomized Clinical Trial. | JAMA Intern Med | 2018 |