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Genetic counseling for early onset and familial dementia: Patient perspectives on exome sequencing.
Published in:
Journal of Genetic Counseling, 2021, v. 30, n. 3, p. 793, doi. 10.1002/jgc4.1379
By:
- Rolf, Bradley;
- Blue, Elizabeth E.;
- Bucks, Stephanie;
- Dorschner, Michael O.;
- Jayadev, Suman
Publication type:
Article
Advancements in APOE and dementia research: Highlights from the 2023 AAIC Advancements: APOE conference.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2024, v. 20, n. 9, p. 6590, doi. 10.1002/alz.13877
By:
- Kloske, Courtney M.;
- Belloy, Michael E.;
- Blue, Elizabeth E.;
- Bowman, Gregory R.;
- Carrillo, Maria C.;
- Chen, Xiaoying;
- Chiba‐Falek, Ornit;
- Davis, Albert A.;
- Paolo, Gilbert Di;
- Garretti, Francesca;
- Gate, David;
- Golden, Lesley R.;
- Heinecke, Jay W.;
- Herz, Joachim;
- Huang, Yadong;
- Iadecola, Costantino;
- Johnson, Lance A.;
- Kanekiyo, Takahisa;
- Karch, Celeste M.;
- Khvorova, Anastasia
Publication type:
Article
Key variants via the Alzheimer's Disease Sequencing Project whole genome sequence data.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2024, v. 20, n. 5, p. 3290, doi. 10.1002/alz.13705
By:
- Wang, Yanbing;
- Sarnowski, Chloé;
- Lin, Honghuang;
- Pitsillides, Achilleas N.;
- Heard‐Costa, Nancy L.;
- Choi, Seung Hoan;
- Wang, Dongyu;
- Bis, Joshua C.;
- Blue, Elizabeth E.;
- Boerwinkle, Eric;
- De Jager, Philip L.;
- Fornage, Myriam;
- Wijsman, Ellen M.;
- Seshadri, Sudha;
- Dupuis, Josée;
- Peloso, Gina M.;
- DeStefano, Anita L.
Publication type:
Article
A decade of gene discovery by the Alzheimer's Disease Sequencing Project.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2022, v. 18, n. 4, p. 1, doi. 10.1002/alz.066434
By:
- Schellenberg, Gerard D.;
- Blue, Elizabeth E
Publication type:
Article
Transcriptomic profiling of myeloid cells in Alzheimer's Disease brain illustrates heterogeneity of microglia endolysosomal subtypes.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2022, v. 18, n. 3, p. 1, doi. 10.1002/alz.062391
By:
- Prater, Katherine E;
- Green, Kevin J;
- Sun, Wei;
- Smith, Carole L;
- Chiou, Kenneth L;
- Mamde, Sainath;
- Heath, Laura M;
- Rose, Shannon;
- Keene, C. Dirk;
- Kwon, Ronald Y;
- Snyder‐Mackler, Noah;
- Blue, Elizabeth E;
- Young, Jessica E.;
- Logsdon, Benjamin A;
- Shojaie, Ali;
- Garden, Gwenn A;
- Jayadev, Suman
Publication type:
Article
Microglia across the spectrum from homeostatic to disease phenotypes display enhanced inflammatory responses in human postmortem AD brain.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2021, v. 17, n. 3, p. 1, doi. 10.1002/alz.057792
By:
- Prater, Katherine E;
- Green, Kevin J;
- Smith, Carole L;
- Heath, Laura M;
- Rose, Shannon;
- Keene, C. Dirk;
- Logsdon, Benjamin A;
- Blue, Elizabeth E;
- Young, Jessica E.;
- Garden, Gwenn A;
- Jayadev, Suman
Publication type:
Article
Microglia subtype transcriptomes differ between Alzheimer Disease and control human postmortem brain samples.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2021, v. 17, p. 1, doi. 10.1002/alz.058474
By:
- Prater, Katherine E;
- Green, Kevin J;
- Chiou, Kenneth L;
- Smith, Carole L;
- Sun, Wei;
- Shojaie, Ali;
- Heath, Laura M;
- Rose, Shannon;
- Keene, C. Dirk;
- Logsdon, Benjamin A;
- Snyder‐Mackler, Noah;
- Blue, Elizabeth E;
- Young, Jessica E.;
- Garden, Gwenn A;
- Jayadev, Suman
Publication type:
Article
Non‐coding variants in MYH11, FZD3, and SORCS3 are associated with dementia in women.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2021, v. 17, n. 2, p. 215, doi. 10.1002/alz.12181
By:
- Blue, Elizabeth E.;
- Thornton, Timothy A.;
- Kooperberg, Charles;
- Liu, Simin;
- Wactawski‐Wende, Jean;
- Manson, JoAnn;
- Kuller, Lew;
- Hayden, Kathleen;
- Reiner, Alexander P.
Publication type:
Article
Analysis of individual families implicates noncoding DNA variation and multiple biological pathways in Alzheimer's disease risk: Genetics/genetic factors of Alzheimer's disease.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 11, p. 1, doi. 10.1002/alz.046456
By:
- Wijsman, Ellen M.;
- Day, Tyler R.;
- Thornton, Timothy A.;
- Horimoto, Andrea R.;
- Blue, Elizabeth E.;
- Bis, Josh C.;
- Sohi, Harkirat K.;
- Nato, Alejandro Q.;
- Nafikov, Rafael A.;
- Navas, Patrick;
- Saad, Mohamad;
- Tsuang, Debby W.;
- Barral, Sandra;
- Vardarajan, Badri N.;
- Beecham, Gary W.;
- Martin, Eden R.;
- van Duijn, Cornelia M.;
- Pericak‐Vance, Margaret A.;
- Mayeux, Richard
Publication type:
Article
Single nuclei RNA‐seq data analysis identifies glial cell lineages associated with Alzheimer's disease severity: Genetics: Genetics and omics of AD I.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 11, p. 1, doi. 10.1002/alz.046122
By:
- Elyanow, Rebecca;
- Green, Kevin J.;
- Greenwood, Anna K.;
- Prater, Katherine E.;
- Melief, Erica J.;
- Valdmanis, Paul;
- Blue, Elizabeth E.;
- Keene, C. Dirk;
- Crane, Paul K.;
- Young, Jessica E.;
- Garden, Gwenn A.;
- Jayadev, Suman;
- Logsdon, Benjamin A.
Publication type:
Article
Local ancestry at APOE modifies Alzheimer's disease risk in Caribbean Hispanics.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, n. 12, p. 1524, doi. 10.1016/j.jalz.2019.07.016
By:
- Blue, Elizabeth E.;
- Horimoto, Andréa R.V.R.;
- Mukherjee, Shubhabrata;
- Wijsman, Ellen M.;
- Thornton, Timothy A.
Publication type:
Article
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.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1406
By:
- Musfee, Fadi I.;
- Guo, Dongchuan;
- Pinard, Amélie C.;
- Hostetler, Ellen M.;
- Blue, Elizabeth E.;
- Nickerson, Deborah A.;
- Bamshad, Michael J.;
- Milewicz, Dianna M.;
- Prakash, Siddharth K.
Publication type:
Article
Exome‐wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child–parent trios and a case–control design to identify novel rare variants.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1546, doi. 10.1002/ajmg.a.63185
By:
- Sok, Pagna;
- Sabo, Aniko;
- Almli, Lynn M.;
- Jenkins, Mary M.;
- Nembhard, Wendy N.;
- Agopian, A. J.;
- Bamshad, Michael J.;
- Blue, Elizabeth E.;
- Brody, Lawrence C.;
- Brown, Austin L.;
- Browne, Marilyn L.;
- Canfield, Mark A.;
- Carmichael, Suzan L.;
- Chong, Jessica X.;
- Dugan‐Perez, Shannon;
- Feldkamp, Marcia L.;
- Finnell, Richard H.;
- Gibbs, Richard A.;
- Kay, Denise M.;
- Lei, Yunping
Publication type:
Article
Exome sequencing identifies genetic variants in anophthalmia and microphthalmia.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2376, doi. 10.1002/ajmg.a.62874
By:
- Li, Jingjing;
- Yang, Wei;
- Wang, Yuejun Jessie;
- Ma, Chen;
- Curry, Cynthia J.;
- McGoldrick, Daniel;
- Nickerson, Deborah A.;
- Chong, Jessica X.;
- Blue, Elizabeth E.;
- Mullikin, James C.;
- Reefhuis, Jennita;
- Nembhard, Wendy N.;
- Romitti, Paul A.;
- Werler, Martha M.;
- Browne, Marilyn L.;
- Olshan, Andrew F.;
- Finnell, Richard H.;
- Feldkamp, Marcia L.;
- Pangilinan, Faith;
- Almli, Lynn M.
Publication type:
Article
The Genetic Landscape of Familial Pulmonary Fibrosis.
Published in:
American Journal of Respiratory & Critical Care Medicine, 2023, v. 207, n. 10, p. 1345, doi. 10.1164/rccm.202204-0781OC
By:
- Qi Liu;
- Yuan Zhou;
- Cogan, Joy D.;
- Mitchell, Daphne B.;
- Quanhu Sheng;
- Shilin Zhao;
- Youhuang Bai;
- Ciombor, Kristen K.;
- Sabusap, Carleen M.;
- Malabanan, M. Merced;
- Markin, Cheryl R.;
- Douglas, Katrina;
- Guixiao Ding;
- Banovich, Nicholas E.;
- Nickerson, Deborah A.;
- Blue, Elizabeth E.;
- Bamshad, Michael J.;
- Brown, Kevin K.;
- Schwartz, David A.;
- Phillips III, John A.
Publication type:
Article
Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 Patients.
Published in:
American Journal of Respiratory & Critical Care Medicine, 2023, v. 207, n. 10, p. 1324, doi. 10.1164/rccm.202209-1653OC
By:
- Yi-Hui Zhou;
- Gallins, Paul J.;
- Pace, Rhonda G.;
- Hong Dang;
- Aksit, Melis A.;
- Blue, Elizabeth E.;
- Buckingham, Kati J.;
- Collaco, Joseph M.;
- Faino, Anna V.;
- Gordon, William W.;
- Hetrick, Kurt N.;
- Hua Ling;
- Weifang Liu;
- Onchiri, Frankline M.;
- Pagel, Kymberleigh;
- Pugh, Elizabeth W.;
- Raraigh, Karen S.;
- Rosenfeld, Margaret;
- QuanSun;
- Jia Wen
Publication type:
Article
Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer’s Disease Sequencing Project.
Published in:
Dementia & Geriatric Cognitive Disorders, 2018, v. 45, n. 1/2, p. 1, doi. 10.1159/000485503
By:
- Blue, Elizabeth E.;
- Bis, Joshua C.;
- Dorschner, Michael O.;
- Tsuang, Debby W.;
- Barral, Sandra M.;
- Beecham, Gary;
- Below, Jennifer E.;
- Bush, William S.;
- Butkiewicz, Mariusz;
- Cruchaga, Carlos;
- DeStefano, Anita;
- Farrer, Lindsay A.;
- Goate, Alison;
- Haines, Jonathan;
- Jaworski, Jim;
- Jun, Gyungah;
- Kunkle, Brian;
- Kuzma, Amanda;
- Lee, Jenny J.;
- Lunetta, Kathryn L.
Publication type:
Article
Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study.
Published in:
Birth Defects Research, 2024, v. 116, n. 7, p. 1, doi. 10.1002/bdr2.2384
By:
- Blue, Elizabeth E.;
- Moore, Kristin J.;
- North, Kari E.;
- Desrosiers, Tania A.;
- Carmichael, Suzan L.;
- White, Janson J.;
- Chong, Jessica X.;
- Bamshad, Michael J.;
- Jenkins, Mary M.;
- Almli, Lynn M.;
- Brody, Lawrence C.;
- Freedman, Sharon F.;
- Reefhuis, Jennita;
- Romitti, Paul A.;
- Shaw, Gary M.;
- Werler, Martha;
- Kay, Denise M.;
- Browne, Marilyn L.;
- Feldkamp, Marcia L.;
- Finnell, Richard H.
Publication type:
Article
Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data.
Published in:
Birth Defects Research, 2019, v. 111, n. 20, p. 1618, doi. 10.1002/bdr2.1554
By:
- Jenkins, Mary M.;
- Almli, Lynn M.;
- Pangilinan, Faith;
- Chong, Jessica X.;
- Blue, Elizabeth E.;
- Shapira, Stuart K.;
- White, Janson;
- McGoldrick, Daniel;
- Smith, Joshua D.;
- Mullikin, James C.;
- Bean, Christopher J.;
- Nembhard, Wendy N.;
- Lou, Xiang‐Yang;
- Shaw, Gary M.;
- Romitti, Paul A.;
- Keppler‐Noreuil, Kim;
- Yazdy, Mahsa M.;
- Kay, Denise M.;
- Carter, Tonia C.;
- Olshan, Andrew F.
Publication type:
Article
Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Published in:
Annals of Clinical & Translational Neurology, 2023, v. 10, n. 6, p. 1046, doi. 10.1002/acn3.51786
By:
- Pujol‐Giménez, Jonai;
- Mirzaa, Ghayda;
- Blue, Elizabeth E.;
- Albano, Giuseppe;
- Miller, Danny E.;
- Allworth, Aimee;
- Bennett, James T.;
- Byers, Peter H.;
- Chanprasert, Sirisak;
- Chen, Jingheng;
- Doherty, Daniel;
- Folta, Andrew B.;
- Gillentine, Madelyn A.;
- Glass, Ian;
- Hing, Anne;
- Horike‐Pyne, Martha;
- Leppig, Kathleen A.;
- Parhin, Azma;
- Ranchalis, Jane;
- Raskind, Wendy H.
Publication type:
Article
Association of Uncommon, Noncoding Variants in the APOE Region With Risk of Alzheimer Disease in Adults of European Ancestry.
Published in:
JAMA Network Open, 2020, v. 3, n. 10, p. e2017666, doi. 10.1001/jamanetworkopen.2020.17666
By:
- Blue, Elizabeth E.;
- Cheng, Anqi;
- Chen, Sunny;
- Yu, Chang-En
Publication type:
Article
The power of representation: Statistical analysis of diversity in US Alzheimer's disease genetics data.
Published in:
Alzheimer's & Dementia: Translational Research & Clinical Interventions, 2024, v. 10, n. 1, p. 1, doi. 10.1002/trc2.12462
By:
- Xue, Diane;
- Blue, Elizabeth E.;
- Conomos, Matthew P.;
- Fohner, Alison E.
Publication type:
Article
Large‐scale sequencing studies expand the known genetic architecture of Alzheimer's disease.
Published in:
Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring, 2021, v. 13, n. 1, p. 1, doi. 10.1002/dad2.12255
By:
- Xue, Diane;
- Bush, William S.;
- Renton, Alan E.;
- Marcora, Edoardo A.;
- Bis, Joshua C.;
- Kunkle, Brian W.;
- Boerwinkle, Eric;
- DeStefano, Anita L.;
- Farrer, Lindsay;
- Goate, Alison;
- Mayeux, Richard;
- Pericak‐Vance, Margaret;
- Schellenberg, Gerard;
- Seshadri, Sudha;
- Wijsman, Ellen;
- Haines, Jonathan L.;
- Blue, Elizabeth E.
Publication type:
Article
FAVOR: functional annotation of variants online resource and annotator for variation across the human genome.
Published in:
Nucleic Acids Research, 2023, v. 51, n. D1, p. D1300, doi. 10.1093/nar/gkac966
By:
- Zhou, Hufeng;
- Arapoglou, Theodore;
- Li, Xihao;
- Li, Zilin;
- Zheng, Xiuwen;
- Moore, Jill;
- Asok, Abhijith;
- Kumar, Sushant;
- Blue, Elizabeth E;
- Buyske, Steven;
- Cox, Nancy;
- Felsenfeld, Adam;
- Gerstein, Mark;
- Kenny, Eimear;
- Li, Bingshan;
- Matise, Tara;
- Philippakis, Anthony;
- Rehm, Heidi L;
- Sofia, Heidi J;
- Snyder, Grace
Publication type:
Article
Front Cover, Volume 40, Issue 10.
Published in:
Human Mutation, 2019, v. 40, n. 10, p. i, doi. 10.1002/humu.23923
By:
- Cox, Timothy C.;
- Lidral, Andrew C.;
- McCoy, Jason C.;
- Liu, Huan;
- Cox, Liza L.;
- Zhu, Ying;
- Anderson, Ryan D.;
- Moreno Uribe, Lina M.;
- Anand, Deepti;
- Deng, Mei;
- Richter, Chika T.;
- Nidey, Nichole L.;
- Standley, Jennifer M.;
- Blue, Elizabeth E.;
- Chong, Jessica X.;
- Smith, Joshua D.;
- Kirk, Edwin P.;
- Venselaar, Hanka;
- Krahn, Katy N.;
- Bokhoven, Hans
Publication type:
Article
Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans.
Published in:
Human Mutation, 2019, v. 40, n. 10, p. 1813, doi. 10.1002/humu.23793
By:
- Cox, Timothy C.;
- Lidral, Andrew C.;
- McCoy, Jason C.;
- Liu, Huan;
- Cox, Liza L.;
- Zhu, Ying;
- Anderson, Ryan D.;
- Moreno Uribe, Lina M.;
- Anand, Deepti;
- Deng, Mei;
- Richter, Chika T.;
- Nidey, Nichole L.;
- Standley, Jennifer M.;
- Blue, Elizabeth E.;
- Chong, Jessica X.;
- Smith, Joshua D.;
- Kirk, Edwin P.;
- Venselaar, Hanka;
- Krahn, Katy N.;
- Bokhoven, Hans
Publication type:
Article
Admixture mapping reveals the association between Native American ancestry at 3q13.11 and reduced risk of Alzheimer's disease in Caribbean Hispanics.
Published in:
Alzheimer's Research & Therapy, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13195-021-00866-9
By:
- Horimoto, Andréa R. V. R.;
- Xue, Diane;
- Thornton, Timothy A.;
- Blue, Elizabeth E.
Publication type:
Article
8q24 genetic variation and comprehensive haplotypes altering familial risk of prostate cancer.
Published in:
Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-15122-1
By:
- Dupont, William D.;
- Breyer, Joan P.;
- Plummer, W. Dale;
- Chang, Sam S.;
- Cookson, Michael S.;
- Smith, Joseph A.;
- University of Washington Center for Mendelian Genomics;
- Blue, Elizabeth;
- Bamshad, Michael;
- Chong, Jessica;
- Nickerson, Deborah;
- Blue, Elizabeth E.;
- Bamshad, Michael J.;
- Smith, Jeffrey R.
Publication type:
Article

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