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
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
science & technology (189) 189
life sciences & biomedicine (183) 183
humans (177) 177
genetics & heredity (135) 135
female (87) 87
biological and medical sciences (86) 86
male (86) 86
medical sciences (81) 81
child (58) 58
infant (53) 53
medical genetics (50) 50
child, preschool (43) 43
phenotype (43) 43
in situ hybridization, fluorescence (41) 41
alagille syndrome - genetics (39) 39
serrate-jagged proteins (36) 36
alagille syndrome (35) 35
infant, newborn (34) 34
mutation (34) 34
jagged-1 protein (32) 32
adult (27) 27
genomics (27) 27
adolescent (26) 26
karyotyping (26) 26
pediatrics (26) 26
chromosome mapping (24) 24
genetics (24) 24
membrane proteins - genetics (24) 24
chromosome banding (23) 23
chromosome deletion (22) 22
mosaicism (22) 22
pedigree (22) 22
animals (21) 21
proteins - genetics (21) 21
genetic aspects (20) 20
intercellular signaling peptides and proteins (20) 20
calcium-binding proteins (19) 19
calcium-binding proteins - genetics (18) 18
genotype (18) 18
membrane proteins (18) 18
molecular sequence data (18) 18
research (18) 18
analysis (17) 17
chromosome aberrations (17) 17
genes (17) 17
abridged index medicus (16) 16
biochemistry & molecular biology (16) 16
chromosomes (16) 16
fundamental and applied biological sciences. psychology (16) 16
intercellular signaling peptides and proteins - genetics (16) 16
polymorphism, single nucleotide (16) 16
abnormalities, multiple - genetics (15) 15
genomes (15) 15
base sequence (14) 14
gastroenterology. liver. pancreas. abdomen (14) 14
genetic disorders (14) 14
genetic testing (14) 14
alagille syndrome - diagnosis (13) 13
amino acid sequence (13) 13
gastroenterology & hepatology (13) 13
jag1 (13) 13
jagged1 (13) 13
liver. biliary tract. portal circulation. exocrine pancreas (13) 13
pregnancy (13) 13
cholestasis (12) 12
dna mutational analysis (12) 12
gene expression (12) 12
genetic research (12) 12
sequence analysis, dna (12) 12
complex syndromes (11) 11
genome, human (11) 11
syndrome (11) 11
alagille syndrome - pathology (10) 10
biotechnology & applied microbiology (10) 10
cytogenetics (10) 10
gene deletion (10) 10
gene duplication (10) 10
genetics of eukaryotes. biological and molecular evolution (10) 10
liver diseases (10) 10
mice (10) 10
oligonucleotide array sequence analysis (10) 10
polymorphism, single nucleotide - genetics (10) 10
research article (10) 10
alagille syndrome - complications (9) 9
cell line (9) 9
cloning, molecular (9) 9
comparative genomic hybridization (9) 9
dna microarrays (9) 9
general aspects. genetic counseling (9) 9
genomics - methods (9) 9
heart defects, congenital - genetics (9) 9
intellectual disability - genetics (9) 9
mutation - genetics (9) 9
other diseases. semiology (9) 9
retrospective studies (9) 9
risk factors (9) 9
biliary atresia (8) 8
chromosomes, human, pair 20 - genetics (8) 8
cohort studies (8) 8
cytogenetic analysis (8) 8
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


1. Full Text A genomic view of mosaicism and human disease
by Biesecker, Leslie G and Spinner, Nancy B
Nature reviews. Genetics, ISSN 1471-0056, 05/2013, Volume 14, Issue 5, pp. 307 - 320
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosome Deletion | Oligonucleotide Array Sequence Analysis - methods | Humans | Cytogenetics - methods | Mosaicism | Polymorphism, Single Nucleotide | Mutation | Genome, Human | Genomics - methods | Sequence Analysis, DNA | DNA Copy Number Variations | Genetic aspects | Research | Gene mutations | Health aspects | Risk factors | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
2. Full Text Microduplications of 16p11.2 are associated with schizophrenia
by Walsh, Tom and Gary, Sydney and Sutcliffe, James S and Addington, Anjene M and Chitkara, Nisha and Levy, Deborah L and Cichon, Sven and DeRosse, Pamela and Malhotra, Anil K and Leibenluft, Ellen and Dickel, Diane E and Lee, Yoon-ha and Zackai, Elaine H and Stroup, T Scott and McCarthy, Shane E and Crow, Timothy J and McMahon, Francis J and Lakshmi, B and Christian, Susan L and Malhotra, Dheeraj and McClellan, Jon and Goodell, Meredith and Spinner, Nancy B and Pearl, Justin and Wolff, Jessica and Bhandari, Abhishek and Iakoucheva, Lilia M and Deutsch, Curtis K and Pavon, Kevin and Nöthen, Markus M and Gallagher, Louise and Roccanova, Patricia and Lieberman, Jeffrey A and DeLisi, Lynn E and Puura, Kaija and Skuse, David and Rapoport, Judith and Willour, Virginia L and Kirov, George and Vacic, Vladimir and Makarov, Vladimir and Haldeman-Englert, Chad and Sullivan, Patrick F and Schulze, Thomas G and Craddock, Nick and Kendall, Jude and Perkins, Diana O and Kusenda, Mary and Lehtimäki, Terho and Kassem, Layla and Yoon, Seungtai and Krastoshevsky, Olga and Sebat, Jonathan and Owen, Michael J and Ganesh, Jaya and Gill, Michael and King, Mary-Claire and Steele, Jo and Krause, Verena and Susser, Ezra and Mendell, Nancy R and Leotta, Anthony and Shaikh, Tamim H and Kaplan, Paige and Potash, James B and Krantz, Ian D and Grozeva, Detelina and Lajonchere, Clara M and O'Donovan, Michael C and Kustanovich, Vlad and Rietschel, Marcella and Kumar, Ravinesh A and Wellcome Trust Case Control Consor and Wellcome Trust Case Control Consortium
Nature genetics, ISSN 1061-4036, 11/2009, Volume 41, Issue 11, pp. 1223 - 1227
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Psychology. Psychoanalysis. Psychiatry | Psychoses | Adult and adolescent clinical studies | Psychopathology. Psychiatry | Schizophrenia | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Gene Duplication | Genetic Predisposition to Disease | Schizophrenia - genetics | Humans | Risk Factors | Chromosomes, Human, Pair 16 | Usage | DNA microarrays | Gene mutations | Genetic aspects | Research | Health aspects | Risk factors | Mental health care | Autism | Mental disorders | Data collection | Grants | Children & youth | Independent sample | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
3. Full Text Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study
by Hart, M. Ragan and Biesecker, Barbara B and Blout, Carrie L and Christensen, Kurt D and Amendola, Laura M and Bergstrom, Katie L and Biswas, Sawona and Bowling, Kevin M and Brothers, Kyle B and Conlin, Laura K and Cooper, Greg M and Dulik, Matthew C and East, Kelly M and Everett, Jessica N and Finnila, Candice R and Ghazani, Arezou A and Gilmore, Marian J and Goddard, Katrina A. B and Jarvik, Gail P and Johnston, Jennifer J and Kauffman, Tia L and Kelley, Whitley V and Krier, Joel B and Lewis, Katie L and McGuire, Amy L and McMullen, Carmit and Ou, Jeffrey and Plon, Sharon E and Rehm, Heidi L and Richards, C. Sue and Romasko, Edward J and Miren Sagardia, Ane and Spinner, Nancy B and Thompson, Michelle L and Turbitt, Erin and Vassy, Jason L and Wilfond, Benjamin S and Veenstra, David L and Berg, Jonathan S and Green, Robert C and Biesecker, Leslie G and Hindorff, Lucia A
Genetics in medicine, ISSN 1098-3600, 05/2019, Volume 21, Issue 5, pp. 1100 - 1110
genomic sequencing | health-care resource utilization | secondary findings | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Prevalence | Genetic Testing - standards | Humans | Incidental Findings | Male | Genetic Testing - ethics | Disclosure | Health Knowledge, Attitudes, Practice | Patients | High-Throughput Nucleotide Sequencing - ethics | Exome | Health Care Costs | Decision Making - ethics | Health Personnel | Adult | Female | Intention | Whole Genome Sequencing - economics | Genetic Testing - economics | Genomics - methods | Whole Genome Sequencing - ethics | Consortia | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
4. Full Text Notch signaling in human development and disease
by Penton, Andrea L and Leonard, Laura D and Spinner, Nancy B
Seminars in cell & developmental biology, ISSN 1084-9521, 06/2012, Volume 23, Issue 4, pp. 450 - 457
Spondylocostal dysostosis | Hajdu Cheney | Alagille syndrome | Notch signaling | Cardiac disease | Life Sciences & Biomedicine | Developmental Biology | Science & Technology | Cell Biology | Abnormalities, Multiple - metabolism | Heart Diseases - metabolism | Signal Transduction | Membrane Proteins - genetics | Receptors, Notch - metabolism | Humans | Intercellular Signaling Peptides and Proteins - genetics | Alagille Syndrome - metabolism | Hernia, Diaphragmatic - genetics | Receptors, Notch - physiology | Receptors, Notch - genetics | Hajdu-Cheney Syndrome - metabolism | Hajdu-Cheney Syndrome - genetics | Heart Defects, Congenital - genetics | Alagille Syndrome - genetics | Animals | Serrate-Jagged Proteins | Heart Defects, Congenital - metabolism | Mutation | Abnormalities, Multiple - genetics | Heart Diseases - genetics | Hernia, Diaphragmatic - metabolism | Calcium-Binding Proteins - genetics | Jagged-1 Protein | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
5. Full Text Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
by Miller, David T and Adam, Margaret P and Aradhya, Swaroop and Biesecker, Leslie G and Brothman, Arthur R and Carter, Nigel P and Church, Deanna M and Crolla, John A and Eichler, Evan E and Epstein, Charles J and Faucett, W. Andrew and Feuk, Lars and Friedman, Jan M and Hamosh, Ada and Jackson, Laird and Kaminsky, Erin B and Kok, Klaas and Krantz, Ian D and Kuhn, Robert M and Lee, Charles and Ostell, James M and Rosenberg, Carla and Scherer, Stephen W and Spinner, Nancy B and Stavropoulos, Dimitri J and Tepperberg, James H and Thorland, Erik C and Vermeesch, Joris R and Waggoner, Darrel J and Watson, Michael S and Martin, Christa Lese and Ledbetter, David H
American journal of human genetics, ISSN 0002-9297, 05/2010, Volume 86, Issue 5, pp. 749 - 764
IDIOPATHIC MENTAL-RETARDATION | CYTOGENETIC SURVEY | 17Q21.31 MICRODELETION SYNDROME | LOW-LEVEL MOSAICISM | COMPARATIVE GENOMIC HYBRIDIZATION | COPY-NUMBER VARIATIONS | DYSMORPHIC FEATURES | STRUCTURAL VARIATION | UMCG Approved | ARRAY-BASED TECHNOLOGY | OLIGONUCLEOTIDE MICROARRAY | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Chromosome Banding | Congenital Abnormalities - genetics | Humans | Karyotyping | Developmental Disabilities - genetics | Child | Chromosome Disorders - genetics | Usage | Care and treatment | Chromosome abnormalities | DNA microarrays | Child development deviations | Genetic aspects | Research | Diagnosis | Developmental disabilities | Genetic screening | Cytogenetics | Genetics | Congenital diseases | Genetic testing | Chromosomes | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
6. Full Text Expanded non-invasive prenatal diagnostics
by Spinner, Nancy B and Krantz, Ian D
Nature medicine, ISSN 1078-8956, 03/2019, Volume 25, Issue 3, pp. 361 - 362
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Cell Biology | Research & Experimental Medicine | Pregnancy | Cell-Free Nucleic Acids | DNA | Humans | Prenatal Diagnosis | Female | Fetus | Prenatal Care | Medical colleges | Care and treatment | Genetic disorders | Pregnant women | Analysis | Research | Health aspects | Deoxyribonucleic acid--DNA | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
7. Full Text Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents
by Botkin, Jeffrey R and Belmont, John W and Berg, Jonathan S and Berkman, Benjamin E and Bombard, Yvonne and Holm, Ingrid A and Levy, Howard P and Ormond, Kelly E and Saal, Howard M and Spinner, Nancy B and Wilfond, Benjamin S and McInerney, Joseph D and ASHG Workgrp Pediat Genetic Genomi
American journal of human genetics, ISSN 0002-9297, 07/2015, Volume 97, Issue 1, pp. 6 - 21
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Laws, regulations and rules | Youth | Teenagers | Children | Management | Health aspects | Genetic screening | Ethical aspects | Medical ethics | Ethics | Genetic testing | Health education | Genomics | Index Medicus | ASHG Position Statement
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights