Articles

UofT Libraries is getting a new library services platform in January 2021.
Learn more about the change.

Search Articles

Advanced search
Help

Catalogue

Articles

Databases

X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (971) 971
Patent (80) 80
Book Chapter (22) 22
Web Resource (7) 7
Publication (4) 4
Book / eBook (3) 3
Book Review (3) 3
Streaming Video (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
science & technology (657) 657
life sciences & biomedicine (635) 635
humans (590) 590
genetics & heredity (459) 459
female (339) 339
male (334) 334
biological and medical sciences (250) 250
mutation (233) 233
medical sciences (192) 192
genetics (189) 189
child (161) 161
genomics (156) 156
pedigree (156) 156
phenotype (151) 151
child, preschool (142) 142
animals (140) 140
research (138) 138
genetic aspects (131) 131
adult (129) 129
genes (121) 121
adolescent (119) 119
fundamental and applied biological sciences. psychology (115) 115
molecular sequence data (110) 110
medical genetics (108) 108
base sequence (107) 107
biochemistry & molecular biology (103) 103
genomes (90) 90
infant (90) 90
genetics of eukaryotes. biological and molecular evolution (83) 83
microbiology (82) 82
charcot-marie-tooth disease - genetics (81) 81
mice (79) 79
genetic disorders (78) 78
neurology (76) 76
chemistry (75) 75
chromosome mapping (74) 74
metallurgy (73) 73
alleles (72) 72
biochemistry (72) 72
molecular and cellular biology (71) 71
gene mutations (67) 67
chromosome aberrations (66) 66
beer (65) 65
chromosomes, human, pair 17 (65) 65
enzymology (65) 65
in situ hybridization, fluorescence (65) 65
mutation or genetic engineering (65) 65
spirits (65) 65
vinegar (65) 65
wine (65) 65
analysis (64) 64
genetic variation (63) 63
genome, human (63) 63
abnormalities, multiple - genetics (61) 61
compositions or test papers therefor (61) 61
condition-responsive control in microbiological orenzymological processes (61) 61
gene duplication (61) 61
measuring or testing processes involving enzymes, nucleicacids or microorganisms (61) 61
neurosciences & neurology (61) 61
processes of preparing such compositions (61) 61
gene dosage (59) 59
intellectual disability - genetics (59) 59
proteins (59) 59
amino acid sequence (58) 58
chromosome deletion (58) 58
comparative genomic hybridization (56) 56
gene deletion (55) 55
genotype & phenotype (55) 55
syndrome (55) 55
culture media (54) 54
compositions thereof (53) 53
microorganisms or enzymes (53) 53
propagating, preserving or maintaining microorganisms (53) 53
neurosciences (52) 52
health aspects (51) 51
abridged index medicus (50) 50
organic chemistry (50) 50
dna copy number variations (49) 49
peptides (49) 49
clinical neurology (48) 48
genetic research (47) 47
genotype (47) 47
human necessities (47) 47
dna mutational analysis (45) 45
human genetics (45) 45
deoxyribonucleic acid--dna (43) 43
risk factors (43) 43
cohort studies (42) 42
young adult (42) 42
genetic predisposition to disease (41) 41
phenotypes (41) 41
research article (41) 41
sequence analysis, dna (41) 41
gene expression (39) 39
medical colleges (39) 39
chromosomes (38) 38
degenerative and inherited degenerative diseases of the nervous system. leukodystrophies. prion diseases (38) 38
gene rearrangement (38) 38
hygiene (38) 38
medical or veterinary science (38) 38
more...
Library Location Library Location
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (1082) 1082
French (24) 24
German (14) 14
Norwegian (2) 2
Danish (1) 1
Japanese (1) 1
Portuguese (1) 1
Spanish (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


1. Full Text Parent of Origin, Mosaicism, and Recurrence Risk: Probabilistic Modeling Explains the Broken Symmetry of Transmission Genetics
by Campbell, Ian M and Stewart, Jonathan R and James, Regis A and Lupski, James R and Stankiewicz, Paweł and Olofsson, Peter and Shaw, Chad A
American journal of human genetics, ISSN 0002-9297, 10/2014, Volume 95, Issue 4, pp. 345 - 359
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Models, Theoretical | Recurrence | Gametogenesis - genetics | Genomics | Humans | Middle Aged | Risk Factors | Genetic Diseases, Inborn - genetics | Male | DNA Copy Number Variations - genetics | Germ-Line Mutation - genetics | Mothers | Pregnancy | Young Adult | Chromosome Aberrations | Aged, 80 and over | Inheritance Patterns - genetics | Adult | Female | Mosaicism | Aged | Fathers | Germ Cells - cytology | Genetic research | Research | Mathematical problems | Genetic counseling | Genetic disorders | Correlation analysis | Mathematical models | Mutation | Health risk assessment | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
2. Full Text Non-coding genetic variants in human disease
by Zhang, Feng and Lupski, James R
Human molecular genetics, ISSN 0964-6906, 10/2015, Volume 24, Issue 1, pp. R102 - R110
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Genetic Variation | Genome-Wide Association Study | Animals | Disease - genetics | Humans | Regulatory Sequences, Nucleic Acid | Polymorphism, Single Nucleotide | DNA Copy Number Variations | Index Medicus | Invited Reviews
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
3. Full Text Genomic rearrangements and sporadic disease
by Lupski, James R and Lupski, James R
Nature genetics, ISSN 1061-4036, 07/2007, Volume 39, Issue 7S, pp. S43 - S46
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Genetic Variation | Phenotype | Gene Rearrangement | Genomics | Humans | Genetic Diseases, Inborn - genetics | Gene Dosage | Mutation | Chromosome Breakage | Genotype & phenotype | Genetics | Molecular biology | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
4. Full Text Genome Mosaicism—One Human, Multiple Genomes
by James R. Lupski
Science (American Association for the Advancement of Science), ISSN 0036-8075, 7/2013, Volume 341, Issue 6144, pp. 358 - 359
Germ cells | Proteus syndrome | Genomics | Blood cells | Stem cells | PERSPECTIVES | Mosaicism | Genomes | Genetic mutation | Cells | Disease risks | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Human | Organisms | Assaying
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
5. Full Text Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
by Posey, Jennifer E and Harel, Tamar and Liu, Pengfei and Rosenfeld, Jill A and James, Regis A and Coban Akdemir, Zeynep H and Walkiewicz, Magdalena and Bi, Weimin and Xiao, Rui and Ding, Yan and Xia, Fan and Beaudet, Arthur L and Muzny, Donna M and Gibbs, Richard A and Boerwinkle, Eric and Eng, Christine M and Sutton, V. Reid and Shaw, Chad A and Plon, Sharon E and Yang, Yaping and Lupski, James R
The New England journal of medicine, ISSN 0028-4793, 01/2017, Volume 376, Issue 1, pp. 21 - 31
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Exome | Genetic Variation | Phenotype | Humans | Genetic Diseases, Inborn - genetics | High-Throughput Nucleotide Sequencing | Retrospective Studies | Genotyping Techniques | Sequence Analysis, DNA - methods | Research | Genomics | Exome sequencing | Genotype & phenotype | Hypotheses | Phenotypes | Laboratories | Data processing | Genomes | Diagnosis | Patients | Genotypes | Index Medicus | Abridged Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
6. Full Text Human Genome Sequencing in Health and Disease
by Gonzaga-Jauregui, Claudia and Lupski, James R and Gibbs, Richard A
Annual review of medicine, ISSN 0066-4219, 2/2012, Volume 63, Issue 1, pp. 35 - 61
simple nucleotide variation (SNV) | whole-genome sequencing (WGS) | exome sequencing | structural variation | personal genomics | Simple nucleotide variation (SNV) | Personal genomics | Whole-genome sequencing (WGS) | Exome sequencing | Structural variation | Genetic Privacy | HapMap Project | Humans | Genetic Diseases, Inborn - genetics | Genetic Diseases, Inborn - diagnosis | Human Genome Project | Genome, Human - genetics | Research | Nucleotide sequencing | Genetic variation | Genomics | Human genetics | DNA sequencing | Genomes | Biological variation | Genetic disorders | Medical diagnosis | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
7. Full Text DUF1220-Domain Copy Number Implicated in Human Brain-Size Pathology and Evolution
by Dumas, Laura J and O’Bleness, Majesta S and Davis, Jonathan M and Dickens, C. Michael and Anderson, Nathan and Keeney, J.G and Jackson, Jay and Sikela, Megan and Raznahan, Armin and Giedd, Jay and Rapoport, Judith and Nagamani, Sandesh S.C and Erez, Ayelet and Brunetti-Pierri, Nicola and Sugalski, Rachel and Lupski, James R and Fingerlin, Tasha and Cheung, Sau Wai and Sikela, James M
American journal of human genetics, ISSN 0002-9297, 09/2012, Volume 91, Issue 3, pp. 444 - 454
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Medical genetics | Biological Evolution | Gene Duplication | Megalencephaly - genetics | Animals | Chromosomes, Human, Pair 1 | Microcephaly - genetics | Comparative Genomic Hybridization | Base Sequence | Humans | Brain - pathology | Organ Size | DNA Copy Number Variations | Brain | Brain research | Human genome | Genetic variation | Physiological aspects | Evolutionary genetics | Research | Proteins | Pathology | Evolution | Genomics | Neurological disorders | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
8. Full Text Structural variation in the human genome and its role in disease
by Stankiewicz, Pawel and Lupski, James R
Annual review of medicine, ISSN 0066-4219, 02/2010, Volume 61, Issue 1, pp. 437 - 455
Genomic disorders | Molecular mechanisms of genomic rearrangements | Copy-number variants | Microdeletions and microduplications | Array CGH | Genomic Structural Variation - physiology | Genetic Predisposition to Disease - genetics | Phenotype | Mutation | Humans | Genome, Human - genetics | Usage | Genetic disorders | Research | Single nucleotide polymorphisms | Nucleotide sequencing | Human genome | Genotype & phenotype | Disease | Genomics | Genetic diversity | Evolution & development | Deoxyribonucleic acid--DNA | Polymorphism | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
9. Full Text Genomic disorders ten years on
by Lupski, James R
Genome medicine, ISSN 1756-994X, 04/2009, Volume 1, Issue 4, pp. 42 - 42
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genomes | Analysis | Genes | Genomics
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights