Autor: "Nickerson, Deborah A." - OpacWWW

Skocz do pozycji: 1.

Tytuł:: Fine-Mapping of Common Genetic Variants Associated with Colorectal Tumor Risk Identified Potential Functional Variants.
Autorzy:: Du M; Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY, United States of America.; Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, United States of America.
Jiao S; Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, United States of America.
Bien SA; Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, United States of America.; School of Public Health, University of Washington, Seattle, WA, United States of America.
Gala M; Division of Gastroenterology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, United States of America.
Abecasis G; Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, MI, United States of America.
Bezieau S; Service de Génétique Médicale, CHU Nantes, Nantes, France.
Brenner H; Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.; German Cancer Consortium (DKTK), Heidelberg, Germany.
Butterbach K; Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Caan BJ; Division of Research, Kaiser Permanente Medical Care Program of Northern California, Oakland, CA, United States of America.
Carlson CS; Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, United States of America.
Casey G; Keck School of Medicine, University of Southern California, Los Angeles, CA, United States of America.
Chang-Claude J; Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Conti DV; Keck School of Medicine, University of Southern California, Los Angeles, CA, United States of America.
Curtis KR; Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, United States of America.
Duggan D; Translational Genomics Research Institute, Phoenix, Arizona, United States of America.
Gallinger S; Department of Surgery, Mount Sinai Hospital, Toronto, ON, Canada.
Haile RW; Keck School of Medicine, University of Southern California, Los Angeles, CA, United States of America.
Harrison TA; Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, United States of America.
Hayes RB; Division of Epidemiology, Department of Population Health, New York University School of Medicine, New York, NY, United States of America.
Hoffmeister M; Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Hopper JL; Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia.
Hudson TJ; Ontario Institute for Cancer Research, Toronto, ON, Canada.; Departments of Medical Biophysics and Molecular Genetics, University of Toronto, Toronto, ON, Canada.
Jenkins MA; Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia.
Küry S; Service de Génétique Médicale, CHU Nantes, Nantes, France.
Le Marchand L; Epidemiology Program, University of Hawaii Cancer Center, Honolulu, HI, United States of America.
Leal SM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.
Newcomb PA; Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, United States of America.; School of Public Health, University of Washington, Seattle, WA, United States of America.
Nickerson DA; Genome Sciences, University of Washington, Seattle, WA, United States of America.
Potter JD; Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, United States of America.; School of Public Health, University of Washington, Seattle, WA, United States of America.; Centre for Public Health Research, Massey University, Wellington, New Zealand.
Schoen RE; Department of Medicine and Epidemiology, University of Pittsburgh Medical Center, Pittsburgh, PA, United States of America.
Schumacher FR; Keck School of Medicine, University of Southern California, Los Angeles, CA, United States of America.
Seminara D; Division of Cancer Control and Population Sciences, National Cancer Institute, Bethesda, MD, United States of America.
Slattery ML; Department of Internal Medicine, University of Utah Health Sciences Center, Salt Lake City, UT, United States of America.
Hsu L; Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, United States of America.
Chan AT; Division of Gastroenterology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, United States of America.; Channing Division of Network Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, United States of America.
White E; Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, United States of America.; School of Public Health, University of Washington, Seattle, WA, United States of America.
Berndt SI; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, United States of America.
Peters U; Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, United States of America.; School of Public Health, University of Washington, Seattle, WA, United States of America.; Pokaż więcej
Źródło:: PloS one [PLoS One] 2016 Jul 05; Vol. 11 (7), pp. e0157521. Date of Electronic Publication: 2016 Jul 05 (Print Publication: 2016).
Typ publikacji:: Journal Article
MeSH Terms:: Genetic Variation*
Colorectal Neoplasms/*genetics
Genetic Predisposition to Disease/*genetics
Genome-Wide Association Study/*methods
A549 Cells ; Adult ; Aged ; Aged, 80 and over ; Caco-2 Cells ; Chromosome Mapping ; Colorectal Neoplasms/pathology ; Computational Biology/methods ; Female ; Genotype ; HCT116 Cells ; Hep G2 Cells ; Humans ; Male ; Middle Aged ; Polymorphism, Single Nucleotide ; Registries/statistics & numerical data ; Risk Factors ; Young Adult

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Skocz do pozycji: 2.

Tytuł:: Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants.
Autorzy:: Fu W; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA. />O'Connor TD
Jun G
Kang HM
Abecasis G
Leal SM
Gabriel S
Rieder MJ
Altshuler D
Shendure J
Nickerson DA
Bamshad MJ
Akey JM; Pokaż więcej
Corporate Authors:: NHLBI Exome Sequencing Project
Źródło:: Nature [Nature] 2013 Jan 10; Vol. 493 (7431), pp. 216-20. Date of Electronic Publication: 2012 Nov 28.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:: Evolution, Molecular*
Exome/*genetics
Genetic Variation/*genetics
Open Reading Frames/*genetics
Africa/ethnology ; Alleles ; Black People/genetics ; Europe/ethnology ; Exons/genetics ; Humans ; Polymorphism, Single Nucleotide/genetics ; United States ; White People/genetics

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Skocz do pozycji: 3.

Tytuł:: Evolution and functional impact of rare coding variation from deep sequencing of human exomes.
Autorzy:: Tennessen JA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
Bigham AW
O'Connor TD
Fu W
Kenny EE
Gravel S
McGee S
Do R
Liu X
Jun G
Kang HM
Jordan D
Leal SM
Gabriel S
Rieder MJ
Abecasis G
Altshuler D
Nickerson DA
Boerwinkle E
Sunyaev S
Bustamante CD
Bamshad MJ
Akey JM; Pokaż więcej
Corporate Authors:: Broad GO
Seattle GO
NHLBI Exome Sequencing Project
Źródło:: Science (New York, N.Y.) [Science] 2012 Jul 06; Vol. 337 (6090), pp. 64-9. Date of Electronic Publication: 2012 May 17.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:: Evolution, Molecular*
Exome*
Genetic Variation*
Genome, Human*
High-Throughput Nucleotide Sequencing*
Polymorphism, Single Nucleotide*
Black or African American/*genetics
White People/*genetics
Disease/genetics ; Female ; Gene Frequency ; Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; Male ; Population Growth ; Selection, Genetic

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Skocz do pozycji: 4.

Tytuł:: Variation in LPA is associated with Lp(a) levels in three populations from the Third National Health and Nutrition Examination Survey.
Autorzy:: Dumitrescu L; Center for Human Genetics Research, Vanderbilt University, Nashville, Tennessee, United States of America.
Glenn K
Brown-Gentry K
Shephard C
Wong M
Rieder MJ
Smith JD
Nickerson DA
Crawford DC; Pokaż więcej
Źródło:: PloS one [PLoS One] 2011 Jan 28; Vol. 6 (1), pp. e16604. Date of Electronic Publication: 2011 Jan 28.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:: Genetic Variation*
Lipoprotein(a)/*blood
Lipoprotein(a)/*genetics
Population Groups/*genetics
Black People/genetics ; Genotype ; Hispanic or Latino/genetics ; Humans ; Polymorphism, Single Nucleotide ; White People/genetics

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Skocz do pozycji: 5.

Tytuł:: Targeted capture and massively parallel sequencing of 12 human exomes.
Autorzy:: Ng SB; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA. />Turner EH
Robertson PD
Flygare SD
Bigham AW
Lee C
Shaffer T
Wong M
Bhattacharjee A
Eichler EE
Bamshad M
Nickerson DA
Shendure J; Pokaż więcej
Źródło:: Nature [Nature] 2009 Sep 10; Vol. 461 (7261), pp. 272-6. Date of Electronic Publication: 2009 Aug 16.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:: Exons/*genetics
Genetic Predisposition to Disease/*genetics
Genetic Testing/*methods
Genetic Variation/*genetics
Genome, Human/*genetics
Sequence Analysis, DNA/*methods
Gene Frequency/genetics ; Gene Library ; Genes, Dominant/genetics ; Haplotypes/genetics ; Humans ; INDEL Mutation/genetics ; Oligonucleotide Array Sequence Analysis ; Polymorphism, Single Nucleotide/genetics ; RNA Splice Sites/genetics ; Sample Size ; Sensitivity and Specificity ; Syndrome

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Skocz do pozycji: 6.

Tytuł:: Mapping and sequencing of structural variation from eight human genomes.
Autorzy:: Kidd JM; Department of Genome Sciences and Howard Hughes Medical Institute, University of Washington, Seattle, Washington 98195, USA.
Cooper GM
Donahue WF
Hayden HS
Sampas N
Graves T
Hansen N
Teague B
Alkan C
Antonacci F
Haugen E
Zerr T
Yamada NA
Tsang P
Newman TL
Tüzün E
Cheng Z
Ebling HM
Tusneem N
David R
Gillett W
Phelps KA
Weaver M
Saranga D
Brand A
Tao W
Gustafson E
McKernan K
Chen L
Malig M
Smith JD
Korn JM
McCarroll SA
Altshuler DA
Peiffer DA
Dorschner M
Stamatoyannopoulos J
Schwartz D
Nickerson DA
Mullikin JC
Wilson RK
Bruhn L
Olson MV
Kaul R
Smith DR
Eichler EE; Pokaż więcej
Źródło:: Nature [Nature] 2008 May 01; Vol. 453 (7191), pp. 56-64.
Typ publikacji:: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms:: Physical Chromosome Mapping*
Sequence Analysis, DNA*
Genetic Variation/*genetics
Genome, Human/*genetics
Chromosome Inversion/genetics ; Euchromatin/genetics ; Gene Deletion ; Geography ; Haplotypes ; Humans ; Mutagenesis, Insertional/genetics ; Polymorphism, Single Nucleotide/genetics ; Racial Groups/genetics ; Reproducibility of Results

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Skocz do pozycji: 7.

Tytuł:: Mutational and selective effects on copy-number variants in the human genome.
Autorzy:: Cooper GM; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA. />Nickerson DA
Eichler EE; Pokaż więcej
Źródło:: Nature genetics [Nat Genet] 2007 Jul; Vol. 39 (7 Suppl), pp. S22-9.
Typ publikacji:: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review
MeSH Terms:: Gene Dosage*
Genetic Variation*
Animals ; Biological Evolution ; Gene Duplication ; Genome, Human ; Humans ; Models, Genetic ; Mutation ; Pan troglodytes/genetics ; Selection, Genetic ; Species Specificity

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Skocz do pozycji: 8.

Tytuł:: Completing the map of human genetic variation.
Autorzy:: Eichler EE
Nickerson DA
Altshuler D
Bowcock AM
Brooks LD
Carter NP
Church DM
Felsenfeld A
Guyer M
Lee C
Lupski JR
Mullikin JC
Pritchard JK
Sebat J
Sherry ST
Smith D
Valle D
Waterston RH; Pokaż więcej
Corporate Authors:: Human Genome Structural Variation Working Group; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA.
Źródło:: Nature [Nature] 2007 May 10; Vol. 447 (7141), pp. 161-5.
Typ publikacji:: Journal Article
MeSH Terms:: Genomics*
Physical Chromosome Mapping*
Genetic Variation/*genetics
Genome, Human/*genetics
Disease ; Humans ; Phenotype ; Polymorphism, Single Nucleotide/genetics

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Skocz do pozycji: 9.

Tytuł:: The patterns of natural variation in human genes.
Autorzy:: Crawford DC; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA. />Akey DT
Nickerson DA; Pokaż więcej
Źródło:: Annual review of genomics and human genetics [Annu Rev Genomics Hum Genet] 2005; Vol. 6, pp. 287-312.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, P.H.S.; Review
MeSH Terms:: Genetic Variation*
Genome, Human*
Algorithms ; DNA/genetics ; Gene Library ; Haplotypes ; Humans ; Linkage Disequilibrium ; Polymorphism, Single Nucleotide ; Vascular Cell Adhesion Molecule-1/genetics

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Skocz do pozycji: 10.

Tytuł:: Population history and natural selection shape patterns of genetic variation in 132 genes.
Autorzy:: Akey JM; Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA. <>
Eberle MA
Rieder MJ
Carlson CS
Shriver MD
Nickerson DA
Kruglyak L; Pokaż więcej
Źródło:: PLoS biology [PLoS Biol] 2004 Oct; Vol. 2 (10), pp. e286. Date of Electronic Publication: 2004 Sep 07.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S.
MeSH Terms:: Genetic Variation*
Genetics, Population*
Genome, Human*
Black People ; Chromosomes, Human, Pair 7 ; Computational Biology ; Evolution, Molecular ; Humans ; Models, Genetic ; Models, Statistical ; Polymorphism, Genetic ; Polymorphism, Single Nucleotide ; Population Groups ; Selection, Genetic ; Sequence Analysis, DNA ; White People

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Skocz do pozycji: 11.

Tytuł:: Sequence variation in the human T-cell receptor loci.
Autorzy:: Mackelprang R; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
Carlson CS
Subrahmanyan L
Livingston RJ
Eberle MA
Nickerson DA; Pokaż więcej
Źródło:: Immunological reviews [Immunol Rev] 2002 Dec; Vol. 190, pp. 26-39.
Typ publikacji:: Journal Article; Research Support, U.S. Gov't, P.H.S.; Review
MeSH Terms:: Genetic Variation*
Receptors, Antigen, T-Cell/*genetics
Chromosome Mapping ; Humans ; Immune System Diseases/genetics ; Immune System Diseases/immunology ; Linkage Disequilibrium ; Polymorphism, Single Nucleotide

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Skocz do pozycji: 12.

Tytuł:: Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
Autorzy:: O'Roak, Brian J.
Vives, Laura
Fu, Wenqing
Egertson, Jarrett D.
Stanaway, Ian B.
Phelps, Ian G.
Carvill, Gemma
Kumar, Akash
Lee, Choli
Ankenman, Katy
Munson, Jeff
Hiatt, Joseph B.
Turner, Emily H.
Levy, Roie
O'Day, Diana R.
Krumm, Niklas
Coe, Bradley P.
Martin, Beth K.
Borenstein, Elhanan
Nickerson, Deborah A.
Mefford, Heather C.
Doherty, Dan
Akey, Joshua M.
Bernier, Raphael
Eichler, Evan E.
Shendure, Jay; Pokaż więcej
Źródło:: Science, 2012 Dec . 338(6114), 1619-1622.
Dostęp URL:: http://dx.doi.org/10.1126/science.1227764 Link otwiera się w nowym oknie

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Skocz do pozycji: 13.

Tytuł:: SCN1A Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families.
Autorzy:: Cornejo-Sanchez, Diana M.
Acharya, Anushree
Bharadwaj, Thashi
Marin-Gomez, Lizeth
Pereira-Gomez, Pilar
Nouel-Saied, Liz M.
Nickerson, Deborah A.
Bamshad, Michael J.
Mefford, Heather C.
Schrauwen, Isabelle
Carrizosa-Moog, Jaime
Cornejo-Ochoa, William
Pineda-Trujillo, Nicolas
Leal, Suzanne M.; Pokaż więcej
Temat:: FEBRILE seizures
LATIN Americans
EPILEPSY
GENETIC variation
PHENOTYPIC plasticity
Źródło:: Genes; May2022, Vol. 13 Issue 5, p754-754, 9p

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Skocz do pozycji: 14.

Tytuł:: Characterization of CYP3A pharmacogenetic variation in American Indian and Alaska Native communities, targeting CYP3A4*1G allele function.
Autorzy:: Fohner, Alison E.
Dalton, Rachel
Skagen, Kasse
Jackson, Konner
Claw, Katrina G.
Hopkins, Scarlett E.
Robinson, Renee
Khan, Burhan A.
Prasad, Bhagwat
Schuetz, Erin G.
Nickerson, Deborah A.
Thornton, Timothy A.
Dillard, Denise A.
Boyer, Bert B.
Thummel, Kenneth E.
Woodahl, Erica L.; Pokaż więcej
Temat:: ALASKA Natives
GENETIC variation
ALLELES
INDIGENOUS peoples
LIVER microsomes
CYTOCHROME P-450 CYP3A
Źródło:: CTS: Clinical & Translational Science; Jul2021, Vol. 14 Issue 4, p1292-1302, 11p
Terminy geograficzne:: ALASKA
MONTANA

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Tytuł:: Novel biallelic variants affecting the OTU domain of the gene OTUD6B associate with severe intellectual disability syndrome and molecular dynamics simulations.
Autorzy:: Cingöz, Sultan (AUTHOR)
Soydemir, Didem (AUTHOR)
Öner, Tülay Öncü (AUTHOR)
Karaca, Ezgi (AUTHOR)
Özden, Burcu (AUTHOR)
Kurul, Semra Hız (AUTHOR)
Bayram, Erhan (AUTHOR)
Coe, Bradley P. (AUTHOR)
Nickerson, Deborah A. (AUTHOR)
Eichler, Evan E. (AUTHOR); Pokaż więcej
Źródło:: European Journal of Medical Genetics. Jun2022, Vol. 65 Issue 6, pN.PAG-N.PAG. 1p.

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