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| 36350676 | FAVOR: functional annotation of variants online resource and annotator for variation across the human genome. | Nucleic Acids Res | 2023 |
| 36350676 | FAVOR: functional annotation of variants online resource and annotator for variation across the human genome. | Nucleic Acids Res | 2023 |
| 37558590 | Genetic examination of hematological parameters in SARS-CoV-2 infection and COVID-19. | Blood Cells Mol Dis | 2023 |
| 37333771 | Admixture mapping implicates 13q33.3 as ancestry-of-origin locus for Alzheimer disease in Hispanic and Latino populations. | HGG Adv | 2023 |
| 37248328 | Human microglia show unique transcriptional changes in Alzheimer's disease. | Nat Aging | 2023 |
| 36921087 | Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 Patients. | Am J Respir Crit Care Med | 2023 |
| 37558590 | Genetic examination of hematological parameters in SARS-CoV-2 infection and COVID-19. | Blood Cells Mol Dis | 2023 |
| 37248328 | Human microglia show unique transcriptional changes in Alzheimer's disease. | Nat Aging | 2023 |
| 37333771 | Admixture mapping implicates 13q33.3 as ancestry-of-origin locus for Alzheimer disease in Hispanic and Latino populations. | HGG Adv | 2023 |
| 36921087 | Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 Patients. | Am J Respir Crit Care Med | 2023 |
| 34393091 | Comparing encounter-based and annualized chronic pseudomonas infection definitions in cystic fibrosis. | J Cyst Fibros | 2022 |
| 34393091 | Comparing encounter-based and annualized chronic pseudomonas infection definitions in cystic fibrosis. | J Cyst Fibros | 2022 |
| 34782259 | Complete CFTR gene sequencing in 5,058 individuals with cystic fibrosis informs variant-specific treatment. | J Cyst Fibros | 2022 |
| 35128485 | Leveraging TOPMed imputation server and constructing a cohort-specific imputation reference panel to enhance genotype imputation among cystic fibrosis patients. | HGG Adv | 2022 |
| 35128485 | Leveraging TOPMed imputation server and constructing a cohort-specific imputation reference panel to enhance genotype imputation among cystic fibrosis patients. | HGG Adv | 2022 |
| 34782259 | Complete CFTR gene sequencing in 5,058 individuals with cystic fibrosis informs variant-specific treatment. | J Cyst Fibros | 2022 |
| 32966694 | Non-coding variants in MYH11, FZD3, and SORCS3 are associated with dementia in women. | Alzheimers Dement | 2021 |
| 34217363 | Admixture mapping reveals the association between Native American ancestry at 3q13.11 and reduced risk of Alzheimer's disease in Caribbean Hispanics. | Alzheimers Res Ther | 2021 |
| 33098347 | Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. | Am J Med Genet A | 2021 |
| 32966694 | Non-coding variants in MYH11, FZD3, and SORCS3 are associated with dementia in women. | Alzheimers Dement | 2021 |
| 33393146 | Genetic counseling for early onset and familial dementia: Patient perspectives on exome sequencing. | J Genet Couns | 2021 |
| 35005195 | Large-scale sequencing studies expand the known genetic architecture of Alzheimer's disease. | Alzheimers Dement (Amst) | 2021 |
| 35005195 | Large-scale sequencing studies expand the known genetic architecture of Alzheimer's disease. | Alzheimers Dement (Amst) | 2021 |
| 34217363 | Admixture mapping reveals the association between Native American ancestry at 3q13.11 and reduced risk of Alzheimer's disease in Caribbean Hispanics. | Alzheimers Res Ther | 2021 |
| 33393146 | Genetic counseling for early onset and familial dementia: Patient perspectives on exome sequencing. | J Genet Couns | 2021 |
| 33098347 | Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. | Am J Med Genet A | 2021 |
| 32748548 | Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease. | Mol Genet Genomic Med | 2020 |
| 33090224 | Association of Uncommon, Noncoding Variants in the APOE Region With Risk of Alzheimer Disease in Adults of European Ancestry. | JAMA Netw Open | 2020 |
| 32748548 | Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease. | Mol Genet Genomic Med | 2020 |
| 33090224 | Association of Uncommon, Noncoding Variants in the APOE Region With Risk of Alzheimer Disease in Adults of European Ancestry. | JAMA Netw Open | 2020 |
| 31606368 | Local ancestry at APOE modifies Alzheimer's disease risk in Caribbean Hispanics. | Alzheimers Dement | 2019 |
| 31606368 | Local ancestry at APOE modifies Alzheimer's disease risk in Caribbean Hispanics. | Alzheimers Dement | 2019 |
| 31215115 | Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans. | Hum Mutat | 2019 |
| 31328417 | Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data. | Birth Defects Res | 2019 |
| 31328417 | Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data. | Birth Defects Res | 2019 |
| 31215115 | Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans. | Hum Mutat | 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 |
| 29045054 | Variants regulating ZBTB4 are associated with age-at-onset of Alzheimer's disease. | Genes Brain Behav | 2018 |
| 29862559 | Analysis of pedigree data in populations with multiple ancestries: Strategies for dealing with admixture in Caribbean Hispanic families from the ADSP. | Genet Epidemiol | 2018 |
| 29949406 | Transgelin induces dysfunction of fetal endothelial colony-forming cells from gestational diabetic pregnancies. | Am J Physiol Cell Physiol | 2018 |
| 30569016 | Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease. | Neurol Genet | 2018 |
| 30276537 | Replication of a rare risk haplotype on 1p36.33 for autism spectrum disorder. | Hum Genet | 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 |
| 29688227 | Whole genome sequencing of Caribbean Hispanic families with late-onset Alzheimer's disease. | Ann Clin Transl Neurol | 2018 |
| 29590295 | Functional annotation of genomic variants in studies of late-onset Alzheimer's disease. | Bioinformatics | 2018 |
| 29323929 | Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis. | Ann Am Thorac Soc | 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 |
| 29538431 | Mycophenolic acid induces senescence of vascular precursor cells. | PLoS One | 2018 |
| 29862559 | Analysis of pedigree data in populations with multiple ancestries: Strategies for dealing with admixture in Caribbean Hispanic families from the ADSP. | Genet Epidemiol | 2018 |