|
| 37598468 | NOTCH3 C201R variant causes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) that can be confused with early-onset Alzheimer's disease. | J Neurol Sci | 2023 |
| 37598468 | NOTCH3 C201R variant causes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) that can be confused with early-onset Alzheimer's disease. | J Neurol Sci | 2023 |
| 34753215 | Spinal cord-predominant neuropathology in an adult-onset case of POLR3A-related spastic ataxia. | Neuropathology | 2022 |
| 35522237 | ORCA, a values-based decision aid for selecting additional findings from genomic sequencing in adults: Efficacy results from a randomized trial. | Genet Med | 2022 |
| 36086934 | Homozygous CADPS2 Mutations Cause Neurodegenerative Disease with Lewy Body-like Pathology in Parrots. | Mov Disord | 2022 |
| 36053287 | An accessible, relational, inclusive, and actionable (ARIA) model of genetic counseling compared with usual care: Results of a randomized controlled trial. | Genet Med | 2022 |
| 35294224 | Safety, Feasibility, and Merits of Longitudinal Molecular Testing of Multiple Metastatic Sites to Inform mTNBC Patient Treatment in the Intensive Trial of Omics in Cancer. | JCO Precis Oncol | 2022 |
| 35123916 | Corrigendum to "Cancer Health Assessments Reaching Many (CHARM): A clinical trial assessing a multimodal cancer genetics services delivery program and its impact on diverse populations" [Contemporary Clinical Trials 106 (2021) 106432]. | Contemp Clin Trials | 2022 |
| 34753215 | Spinal cord-predominant neuropathology in an adult-onset case of POLR3A-related spastic ataxia. | Neuropathology | 2022 |
| 35156398 | Somatic Mosaicism of a PDGFRB Activating Variant in Aneurysms of the Intracranial, Coronary, Aortic, and Radial Artery Vascular Beds. | J Am Heart Assoc | 2022 |
| 35522237 | ORCA, a values-based decision aid for selecting additional findings from genomic sequencing in adults: Efficacy results from a randomized trial. | Genet Med | 2022 |
| 36086934 | Homozygous CADPS2 Mutations Cause Neurodegenerative Disease with Lewy Body-like Pathology in Parrots. | Mov Disord | 2022 |
| 36053287 | An accessible, relational, inclusive, and actionable (ARIA) model of genetic counseling compared with usual care: Results of a randomized controlled trial. | Genet Med | 2022 |
| 35156398 | Somatic Mosaicism of a PDGFRB Activating Variant in Aneurysms of the Intracranial, Coronary, Aortic, and Radial Artery Vascular Beds. | J Am Heart Assoc | 2022 |
| 35123916 | Corrigendum to "Cancer Health Assessments Reaching Many (CHARM): A clinical trial assessing a multimodal cancer genetics services delivery program and its impact on diverse populations" [Contemporary Clinical Trials 106 (2021) 106432]. | Contemp Clin Trials | 2022 |
| 35294224 | Safety, Feasibility, and Merits of Longitudinal Molecular Testing of Multiple Metastatic Sites to Inform mTNBC Patient Treatment in the Intensive Trial of Omics in Cancer. | JCO Precis Oncol | 2022 |
| 33445191 | Two Missense CACNA1A Variants in a Single Family with Variable Neurobehavioral, Cerebellar, Epileptic, and Oculomotor Features. | Neuropediatrics | 2021 |
| 33984519 | Cancer Health Assessments Reaching Many (CHARM): A clinical trial assessing a multimodal cancer genetics services delivery program and its impact on diverse populations. | Contemp Clin Trials | 2021 |
| 33445191 | Two Missense CACNA1A Variants in a Single Family with Variable Neurobehavioral, Cerebellar, Epileptic, and Oculomotor Features. | Neuropediatrics | 2021 |
| 33393146 | Genetic counseling for early onset and familial dementia: Patient perspectives on exome sequencing. | J Genet Couns | 2021 |
| 33984519 | Cancer Health Assessments Reaching Many (CHARM): A clinical trial assessing a multimodal cancer genetics services delivery program and its impact on diverse populations. | Contemp Clin Trials | 2021 |
| 33393146 | Genetic counseling for early onset and familial dementia: Patient perspectives on exome sequencing. | J Genet Couns | 2021 |
| 32160020 | Variant Interpretation for Dilated Cardiomyopathy: Refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study. | Circ Genom Precis Med | 2020 |
| 32160020 | Variant Interpretation for Dilated Cardiomyopathy: Refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study. | Circ Genom Precis Med | 2020 |
| 33101276 | Triggering Receptor Expressed on Myeloid Cell 2 R47H Exacerbates Immune Response in Alzheimer's Disease Brain. | Front Immunol | 2020 |
| 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 |
| 33101276 | Triggering Receptor Expressed on Myeloid Cell 2 R47H Exacerbates Immune Response in Alzheimer's Disease Brain. | Front Immunol | 2020 |
| 29675951 | Genomic profiling of anaplastic meningioma identifies recurrent genetic alterations with relevance to lower-grade meningioma. | Neuropathol Appl Neurobiol | 2019 |
| 29675951 | Genomic profiling of anaplastic meningioma identifies recurrent genetic alterations with relevance to lower-grade meningioma. | Neuropathol Appl Neurobiol | 2019 |
| 31143190 | α7 Nicotinic Acetylcholine Receptor Signaling Modulates Ovine Fetal Brain Astrocytes Transcriptome in Response to Endotoxin. | Front Immunol | 2019 |
| 31031011 | Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms. | Am J Hum Genet | 2019 |
| 31020001 | Alternative splicing in a presenilin 2 variant associated with Alzheimer disease. | Ann Clin Transl Neurol | 2019 |
| 31400517 | Clinical exome sequencing vs. usual care for hereditary colorectal cancer diagnosis: A pilot comparative effectiveness study. | Contemp Clin Trials | 2019 |
| 31317629 | Insurance coverage does not predict outcomes of genetic testing: The search for meaning in payer decisions for germline cancer tests. | J Genet Couns | 2019 |
| 31422818 | Rates of Actionable Genetic Findings in Individuals with Colorectal Cancer or Polyps Ascertained from a Community Medical Setting. | Am J Hum Genet | 2019 |
| 31317629 | Insurance coverage does not predict outcomes of genetic testing: The search for meaning in payer decisions for germline cancer tests. | J Genet Couns | 2019 |
| 31400517 | Clinical exome sequencing vs. usual care for hereditary colorectal cancer diagnosis: A pilot comparative effectiveness study. | Contemp Clin Trials | 2019 |
| 31422818 | Rates of Actionable Genetic Findings in Individuals with Colorectal Cancer or Polyps Ascertained from a Community Medical Setting. | Am J Hum Genet | 2019 |
| 31143190 | α7 Nicotinic Acetylcholine Receptor Signaling Modulates Ovine Fetal Brain Astrocytes Transcriptome in Response to Endotoxin. | Front Immunol | 2019 |
| 31031011 | Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms. | Am J Hum Genet | 2019 |
| 31020001 | Alternative splicing in a presenilin 2 variant associated with Alzheimer disease. | Ann Clin Transl Neurol | 2019 |
| 29236290 | An 8-generation family with X-linked Charcot-Marie-Tooth: Confirmation Of the pathogenicity Of a 3' untranslated region mutation in GJB1 and its clinical features. | Muscle Nerve | 2018 |
| 30267214 | Rare loss of function variants in candidate genes and risk of colorectal cancer. | Hum Genet | 2018 |
| 30393977 | CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures. | Mol Genet Genomic Med | 2018 |
| 29486463 | Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project. | Dement Geriatr Cogn Disord | 2018 |
| 29754767 | Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory. | Am J Hum Genet | 2018 |
| 29246420 | LMX1B-Associated Nephropathy With Type III Collagen Deposition in the Glomerular and Tubular Basement Membranes. | Am J Kidney Dis | 2018 |
| 29236290 | An 8-generation family with X-linked Charcot-Marie-Tooth: Confirmation Of the pathogenicity Of a 3' untranslated region mutation in GJB1 and its clinical features. | Muscle Nerve | 2018 |
| 29805042 | Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate. | Am J Hum Genet | 2018 |