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R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family.
Published in:
JAMA Dermatology, 2015, v. 151, n. 8, p. 920, doi. 10.1001/jamaneurol.2015.0979
By:
- Korvatska, Olena;
- Leverenz, James B.;
- Jayadev, Suman;
- McMillan, Pamela;
- Kurtz, Irina;
- Xindi Guo;
- Rumbaugh, Malia;
- Mark Matsushita;
- Girirajan, Santhosh;
- Dorschner, Michael O.;
- Kiianitsa, Kostantin;
- Chang-En Yu;
- Brkanac, Zoran;
- Garden, Gwenn A.;
- Raskind, Wendy H.;
- Bird, Thomas D.
Publication type:
Article
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
Support for the N -methyl-d-aspartate receptor hypofunction hypothesis of schizophrenia from exome sequencing in multiplex families.
Published in:
2013
By:
- Timms, Andrew E;
- Dorschner, Michael O;
- Wechsler, Jeremy;
- Choi, Kyu Yeong;
- Kirkwood, Robert;
- Girirajan, Santhosh;
- Baker, Carl;
- Eichler, Evan E;
- Korvatska, Olena;
- Roche, Katherine W;
- Horwitz, Marshall S;
- Tsuang, Debby W
Publication type:
Journal Article
Support for the N-Methyl-D-Aspartate Receptor Hypofunction Hypothesis of Schizophrenia From Exome Sequencing in Multiplex Families.
Published in:
JAMA Psychiatry, 2013, v. 70, n. 6, p. 582, doi. 10.1001/jamapsychiatry.2013.1195
By:
- Timms, Andrew E.;
- Dorschner, Michael O.;
- Wechsler, Jeremy;
- Kyu Yeong Choi;
- Kirkwood, Robert;
- Girirajan, Santhosh;
- Baker, Carl;
- Eichler, Evan E.;
- Korvatska, Olena;
- Roche, Katherine W.;
- Horwitz, Marshall S.;
- Tsuang, Debby W.
Publication type:
Article
Refining the structure and content of clinical genomic reports.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2014, v. 166C, n. 1, p. 85, doi. 10.1002/ajmg.c.31395
By:
- Dorschner, Michael O.;
- Amendola, Laura M.;
- Shirts, Brian H.;
- Kiedrowski, Lesli;
- Salama, Joseph;
- Gordon, Adam S.;
- Fullerton, Stephanie M.;
- Tarczy‐Hornoch, Peter;
- Byers, Peter H.;
- Jarvik, Gail P.
Publication type:
Article
The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot.
Published in:
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2017, v. 174, n. 1, p. 113, doi. 10.1002/ajmg.b.32510
By:
- Mata, Ignacio F.;
- Davis, Marie Y.;
- Lopez, Alexis N.;
- Dorschner, Michael O.;
- Martinez, Erica;
- Yearout, Dora;
- Cholerton, Brenna A.;
- Hu, Shu‐Ching;
- Edwards, Karen L.;
- Bird, Thomas D.;
- Zabetian, Cyrus P.
Publication type:
Article
The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot.
Published in:
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2016, v. 171B, n. 7, p. 925, doi. 10.1002/ajmg.b.32452
By:
- Mata, Ignacio F.;
- Davis, Marie Y.;
- Lopez, Alexis N.;
- Dorschner, Michael O.;
- Martinez, Erica;
- Yearout, Dora;
- Cholerton, Brenna A.;
- Hu, Shu‐Ching;
- Edwards, Karen L.;
- Bird, Thomas D.;
- Zabetian, Cyrus P.
Publication type:
Article
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
Published in:
Nature Genetics, 2013, v. 45, n. 7, p. 825, doi. 10.1038/ng.2646
By:
- Carvill, Gemma L;
- Heavin, Sinéad B;
- Yendle, Simone C;
- McMahon, Jacinta M;
- O'Roak, Brian J;
- Cook, Joseph;
- Khan, Adiba;
- Dorschner, Michael O;
- Weaver, Molly;
- Calvert, Sophie;
- Malone, Stephen;
- Wallace, Geoffrey;
- Stanley, Thorsten;
- Bye, Ann M E;
- Bleasel, Andrew;
- Howell, Katherine B;
- Kivity, Sara;
- Mackay, Mark T;
- Rodriguez-Casero, Victoria;
- Webster, Richard
Publication type:
Article
Genome-scale mapping of DNase I sensitivity in vivo using tiling DNA microarrays.
Published in:
Nature Methods, 2006, v. 3, n. 7, p. 511, doi. 10.1038/nmeth890
By:
- Sabo, Peter J.;
- Kuehn, Michael S.;
- Thurman, Robert;
- Johnson, Brett E.;
- Johnson, Ericka M.;
- Hua Cao;
- Man Yu;
- Rosenzweig, Elizabeth;
- Goldy, Jeff;
- Haydock, Andrew;
- Weaver, Molly;
- Shafer, Anthony;
- Lee, Kristin;
- Neri, Fidencio;
- Humbert, Richard;
- Singer, Michael A.;
- Richmond, Todd A.;
- Dorschner, Michael O.;
- McArthur, Michael;
- Hawrylycz, Michael
Publication type:
Article
High-throughput localization of functional elements by quantitative chromatin profiling.
Published in:
Nature Methods, 2004, v. 1, n. 3, p. 219, doi. 10.1038/nmeth721
By:
- Dorschner, Michael O.;
- Hawrylycz, Michael;
- Humbert, Richard;
- Wallace, James C.;
- Shafer, Anthony;
- Kawamoto, Janelle;
- Mack, Joshua;
- Hall, Robert;
- Goldy, Jeff;
- Sabo, Peter J.;
- Kohli, Ajay;
- Qiliang Li;
- McArthur, Michael;
- Stamatoyannopoulos, John A.
Publication type:
Article
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.
Published in:
2018
By:
- Chen, Dong‐Hui;
- Ma, Maxwell;
- Scavina, Mena;
- Blue, Elizabeth;
- Wolff, John;
- Karna, Prasanthi;
- Dorschner, Michael O.;
- Raskind, Wendy H.;
- Bird, Thomas D.;
- Chen, Dong-Hui
Publication type:
journal article
Rare loss of function variants in candidate genes and risk of colorectal cancer.
Published in:
Human Genetics, 2018, v. 137, n. 10, p. 795, doi. 10.1007/s00439-018-1938-4
By:
- Rosenthal, Elisabeth A.;
- Shirts, Brian H.;
- Amendola, Laura M.;
- Horike-Pyne, Martha;
- Robertson, Peggy D.;
- Hisama, Fuki M.;
- Bennett, Robin L.;
- Dorschner, Michael O.;
- Nickerson, Deborah A.;
- Stanaway, Ian B.;
- Nassir, Rami;
- Vickers, Kathy T.;
- Li, Christopher;
- Grady, William M.;
- Peters, Ulrike;
- Jarvik, Gail P.;
- NHLBI GO Exome Sequencing Project
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
R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family.
Published in:
JAMA Neurology, 2015, v. 72, n. 8, p. 920, doi. 10.1001/jamaneurol.2015.0979
By:
- Korvatska, Olena;
- Leverenz, James B.;
- Jayadev, Suman;
- McMillan, Pamela;
- Kurtz, Irina;
- Guo, Xindi;
- Rumbaugh, Malia;
- Matsushita, Mark;
- Girirajan, Santhosh;
- Dorschner, Michael O.;
- Kiianitsa, Kostantin;
- Yu, Chang-En;
- Brkanac, Zoran;
- Garden, Gwenn A.;
- Raskind, Wendy H.;
- Bird, Thomas D.
Publication type:
Article
Corrigendum: Comprehensive epigenetic profiling identifies multiple distal regulatory elements directing transcription of the gene encoding interferon-γ.
Published in:
Nature Immunology, 2008, v. 9, n. 1, p. 105, doi. 10.1038/ni0108-105c
By:
- Schoenborn, Jamie R;
- Dorschner, Michael O;
- Sekimata, Masayuki;
- Santer, Deanna M;
- Shnyreva, Maria;
- Fitzpatrick, David R;
- Stamatoyannopoulos, John A;
- Wilson, Christopher B
Publication type:
Article
Corrigendum: Comprehensive epigenetic profiling identifies multiple distal regulatory elements directing transcription of the gene encoding interferon-γ.
Published in:
Nature Immunology, 2007, v. 8, n. 12, p. 1398, doi. 10.1038/ni1207-1398b
By:
- Schoenborn, Jamie R;
- Dorschner, Michael O;
- Sekimata, Masayuki;
- Santer, Deanna M;
- Shnyreva, Maria;
- Fitzpatrick, David R;
- Stamatoyannopoulos, John A;
- Wilson, Christopher B
Publication type:
Article
Corrigendum: Comprehensive epigenetic profiling identifies multiple distal regulatory elements directing transcription of the gene encoding interferon-γ.
Published in:
Nature Immunology, 2007, v. 8, n. 8, p. 893, doi. 10.1038/ni0807-893b
By:
- Schoenborn, Jamie R;
- Dorschner, Michael O;
- Sekimata, Masayuki;
- Santer, Deanna M;
- Shnyreva, Maria;
- Fitzpatrick, David R;
- Stamatoyonnapoulos, John A;
- Wilson, Christopher B
Publication type:
Article
Comprehensive epigenetic profiling identifies multiple distal regulatory elements directing transcription of the gene encoding interferon-γ.
Published in:
Nature Immunology, 2007, v. 8, n. 7, p. 732, doi. 10.1038/ni1474
By:
- Schoenborn, Jamie R;
- Dorschner, Michael O;
- Sekimata, Masayuki;
- Santer, Deanna M;
- Shnyreva, Maria;
- Fitzpatrick, David R;
- Stamatoyonnapoulos, John A;
- Wilson, Christopher B
Publication type:
Article
Triggering Receptor Expressed on Myeloid Cell 2 R47H Exacerbates Immune Response in Alzheimer's Disease Brain.
Published in:
Frontiers in Immunology, 2020, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.559342
By:
- Korvatska, Olena;
- Kiianitsa, Kostantin;
- Ratushny, Alexander;
- Matsushita, Mark;
- Beeman, Neal;
- Chien, Wei-Ming;
- Satoh, Jun-Ichi;
- Dorschner, Michael O.;
- Keene, C. Dirk;
- Bammler, Theo K.;
- Bird, Thomas D.;
- Raskind, Wendy H.
Publication type:
Article
Sequence analysis of the mitochondrial DNA control region of ciscoes (genus Coregonnus): taxonomic implications for the Great Lakes species flock.
Published in:
Molecular Ecology, 1998, v. 7, n. 9, p. 1091, doi. 10.1046/j.1365-294x.1998.00419.x
By:
- Reed, Kent;
- Dorschner, Michael O.;
- Todd, Thomas N.;
- Phillips, Ruth B.
Publication type:
Article
Building a family network from genetic testing.
Published in:
Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 2, p. 122, doi. 10.1002/mgg3.259
By:
- Leppig, Kathleen A.;
- Thiese, Heidi A.;
- Carrel, David;
- Crosslin, David R.;
- Dorschner, Michael O.;
- Gordon, Adam S.;
- Hartzler, Andrea;
- Ralston, James;
- Scrol, Aaron;
- Larson, Eric B.;
- Jarvik, Gail P.
Publication type:
Article
Somatic Mosaicism of a PDGFRB Activating Variant in Aneurysms of the Intracranial, Coronary, Aortic, and Radial Artery Vascular Beds.
Published in:
2022
By:
- Parada, Carolina A.;
- El Ghazali, Fatima M.;
- Toglia, Daphne;
- Ruzevick, Jacob;
- McAvoy, Malia;
- Emerson, Samuel;
- Karasozen, Yigit;
- Busald, Tina;
- Nazem, Ahmad A.;
- Suranowitz, Shaun M.;
- Shalhub, Sherene;
- Marshall, Desiree A.;
- Gonzalez-Cuyar, Luis F.;
- Dorschner, Michael O.;
- Ferreira Jr., Manuel;
- Ferreira, Manuel Jr
Publication type:
journal article
Genomic context of paralogous recombination hotspots mediating recurrent NF1 region microdeletion.
Published in:
Genes, Chromosomes & Cancer, 2004, v. 41, n. 1, p. 12, doi. 10.1002/gcc.20065
By:
- Stephen H. Forbes;
- Michael O. Dorschner;
- Rosalynda Le;
- Karen Stephens
Publication type:
Article
Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse.
Published in:
Genes, Chromosomes & Cancer, 2003, v. 37, n. 2, p. 111, doi. 10.1002/gcc.10206
By:
- Dieter E. Jenne;
- Sigrid Tinschert;
- Michael O. Dorschner;
- Horst Hameister;
- Karen Stephens;
- Hildegard Kehrer-Sawatzki
Publication type:
Article
Homozygous CADPS2 Mutations Cause Neurodegenerative Disease with Lewy Body‐like Pathology in Parrots.
Published in:
Movement Disorders, 2022, v. 37, n. 12, p. 2345, doi. 10.1002/mds.29211
By:
- Lorenzo‐Betancor, Oswaldo;
- Galosi, Livio;
- Bonfili, Laura;
- Eleuteri, Anna Maria;
- Cecarini, Valentina;
- Verin, Ranieri;
- Dini, Fabrizio;
- Attili, Anna‐Rita;
- Berardi, Sara;
- Biagini, Lucia;
- Robino, Patrizia;
- Stella, Maria Cristina;
- Yearout, Dora;
- Dorschner, Michael O.;
- Tsuang, Debby W.;
- Rossi, Giacomo;
- Zabetian, Cyrus P.
Publication type:
Article
The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease.
Published in:
Molecular Neurodegeneration, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13024-015-0045-4
By:
- Mata, Ignacio F.;
- Yongwoo Jang;
- Chun-Hyung Kim;
- Hanna, David S.;
- Dorschner, Michael O.;
- Samii, Ali;
- Agarwal, Pinky;
- Roberts, John W.;
- Klepitskaya, Olga;
- Shprecher, David R.;
- Chung, Kathryn A.;
- Factor, Stewart A.;
- Espay, Alberto J.;
- Revilla, Fredy J.;
- Higgins, Donald S.;
- Litvan, Irene;
- Leverenz, James B.;
- Yearout, Dora;
- Inca-Martinez, Miguel;
- Martinez, Erica
Publication type:
Article
NF1 microdeletion breakpoints are clustered at flanking repetitive sequences.
Published in:
Human Molecular Genetics, 2000, v. 9, n. 1, p. 35, doi. 10.1093/hmg/9.1.35
By:
- Dorschner, Michael O.
Publication type:
Article

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