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genetics & heredity (9) 9
life sciences & biomedicine (9) 9
science & technology (9) 9
female (5) 5
humans (5) 5
intellectual disability (5) 5
male (5) 5
adult (4) 4
research (4) 4
autism (3) 3
child (3) 3
cser (3) 3
genetics (3) 3
genomic sequencing (3) 3
genomics (3) 3
mutation (3) 3
secondary findings (3) 3
transcription (3) 3
actl6b (2) 2
adolescent (2) 2
child, preschool (2) 2
chromatin remodeling complex (2) 2
clinical sequencing (2) 2
coffin-siris syndrome (2) 2
consortia (2) 2
developmental delay (2) 2
diagnosis (2) 2
disorders (2) 2
epilepsy (2) 2
exome (2) 2
gene (2) 2
genetic aspects (2) 2
genetic diversity (2) 2
genetic engineering (2) 2
genomes (2) 2
genomics - methods (2) 2
infant (2) 2
intellectual disabilities (2) 2
intellectual disability - genetics (2) 2
memory (2) 2
neurodevelopment (2) 2
oligodendrocyte (2) 2
protein expression (2) 2
risk factors (2) 2
seizure (2) 2
stem cells (2) 2
swi/snf complex (2) 2
synaptic plasticity (2) 2
young adult (2) 2
abnormalities, multiple - genetics (1) 1
acetylation (1) 1
acmg (1) 1
actin (1) 1
actins - genetics (1) 1
amino acid sequence (1) 1
amino acids (1) 1
analysis (1) 1
autism spectrum disorder - genetics (1) 1
biochemistry & molecular biology (1) 1
biomedical research - ethics (1) 1
cell line (1) 1
children (1) 1
chromatin - genetics (1) 1
chromatin - metabolism (1) 1
chromosomal proteins, non-histone - genetics (1) 1
clinical sequencing exploratory research consortium (1) 1
community participation (1) 1
congenital heart defects (1) 1
convulsions & seizures (1) 1
data sharing (1) 1
de novo (1) 1
decision making - ethics (1) 1
dendrites - metabolism (1) 1
dendrites - pathology (1) 1
deoxyribonucleic acid--dna (1) 1
developmental disabilities - diagnosis (1) 1
developmental disabilities - genetics (1) 1
disclosure (1) 1
disease risk (1) 1
disease susceptibility (1) 1
dna (1) 1
dna copy number variations (1) 1
dna polymerases (1) 1
dna-binding proteins - genetics (1) 1
encephalopathy (1) 1
engaged research (1) 1
epilepsy - etiology (1) 1
epilepsy - pathology (1) 1
ethics (1) 1
exon skipping (1) 1
exons - genetics (1) 1
family medical history (1) 1
focus groups (1) 1
gene expression regulation (1) 1
gene mutations (1) 1
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genes (1) 1
genetic predisposition to disease (1) 1
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1. Full Text Genomic diagnosis for children with intellectual disability and/or developmental delay
by Bowling, Kevin M and Thompson, Michelle L and Amaral, Michelle D and Finnila, Candice R and Hiatt, Susan M and Engel, Krysta L and Cochran, J.Nicholas and Brothers, Kyle B and East, Kelly M and Gray, David E and Kelley, Whitley V and Lamb, Neil E and Lose, Edward J and Rich, Carla A and Simmons, Shirley and Whittle, Jana S and Weaver, Benjamin T and Nesmith, Amy S and Myers, Richard M and Barsh, Gregory S and Bebin, E.Martina and Cooper, Gregory M
Genome medicine, ISSN 1756-994X, 05/2017, Volume 9, Issue 1, pp. 43 - 43
CSER | Intellectual disability | Clinical sequencing | Developmental delay | De novo | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Child, Preschool | Infant | Male | Developmental Disabilities - genetics | DNA Copy Number Variations | Intellectual Disability - genetics | Exome | Young Adult | Intellectual Disability - diagnosis | Adolescent | Adult | Female | Mutation | Genomics - methods | Child | Developmental Disabilities - diagnosis | Sequence Analysis, DNA - methods | Laboratories | Intellectual disabilities | Genomics | Genes | Genomes | Mitochondrial DNA | Genetic diversity | Research | Consortia | Autism | Genetics | Genetic testing | Children | Diagnosis | Deoxyribonucleic acid--DNA | Index Medicus
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2. Full Text Genomic sequencing identifies secondary findings in a cohort of parent study participants
by Thompson, Michelle L and Finnila, Candice R and Bowling, Kevin M and Brothers, Kyle B and Neu, Matthew B and Amaral, Michelle D and Hiatt, Susan M and East, Kelly M and Gray, David E and Lawlor, James M J and Kelley, Whitley V and Lose, Edward J and Rich, Carla A and Simmons, Shirley and Levy, Shawn E and Myers, Richard M and Barsh, Gregory S and Bebin, E Martina and Cooper, Gregory M
Genetics in medicine, ISSN 1098-3600, 12/2018, Volume 20, Issue 12, pp. 1635 - 1643
genomic sequencing | ACMG | Clinical Sequencing Exploratory Research Consortium | secondary findings | disease risk | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Parents & parenting | Family medical history | Index Medicus | CSER | Secondary findings
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3. Full Text Systematic reanalysis of genomic data improves quality of variant interpretation
by Hiatt, S.M and Amaral, M.D and Bowling, K.M and Finnila, C.R and Thompson, M.L and Gray, D.E and Lawlor, J.M.J and Cochran, J.N and Bebin, E.M and Brothers, K.B and East, K.M and Kelley, W.V and Lamb, N.E and Levy, S.E and Lose, E.J and Neu, M.B and Rich, C.A and Simmons, S and Myers, R.M and Barsh, G.S and Cooper, G.M
Clinical genetics, ISSN 0009-9163, 07/2018, Volume 94, Issue 1, pp. 174 - 178
clinical sequencing | CSER | VUS | developmental delay | reanalysis | data sharing | intellectual disability | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | DNA polymerases | Disease susceptibility | Analysis | Genomics | DNA | Genetic diversity | Index Medicus | Reanalysis
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4. Full Text Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies
by Cheng, Hanyin and Dharmadhikari, Avinash V and Varland, Sylvia and Ma, Ning and Domingo, Deepti and Kleyner, Robert and Rope, Alan F and Yoon, Margaret and Stray-Pedersen, Asbjørg and Posey, Jennifer E and Crews, Sarah R and Eldomery, Mohammad K and Akdemir, Zeynep Coban and Lewis, Andrea M and Sutton, Vernon R and Rosenfeld, Jill A and Conboy, Erin and Agre, Katherine and Xia, Fan and Walkiewicz, Magdalena and Longoni, Mauro and High, Frances A and van Slegtenhorst, Marjon A and Mancini, Grazia M.S and Finnila, Candice R and van Haeringen, Arie and den Hollander, Nicolette and Ruivenkamp, Claudia and Naidu, Sakkubai and Mahida, Sonal and Palmer, Elizabeth E and Murray, Lucinda and Lim, Derek and Jayakar, Parul and Parker, Michael J and Giusto, Stefania and Stracuzzi, Emanuela and Romano, Corrado and Beighley, Jennifer S and Bernier, Raphael A and Küry, Sébastien and Nizon, Mathilde and Corbett, Mark A and Shaw, Marie and Gardner, Alison and Barnett, Christopher and Armstrong, Ruth and Kassahn, Karin S and Van Dijck, Anke and Vandeweyer, Geert and Kleefstra, Tjitske and Schieving, Jolanda and Jongmans, Marjolijn J and de Vries, Bert B.A and Pfundt, Rolph and Kerr, Bronwyn and Rojas, Samantha K and Boycott, Kym M and Person, Richard and Willaert, Rebecca and Eichler, Evan E and Kooy, R. Frank and Yang, Yaping and Wu, Joseph C and Lupski, James R and Arnesen, Thomas and Cooper, Gregory M and Chung, Wendy K and Gecz, Jozef and Stessman, Holly A.F and Meng, Linyan and Lyon, Gholson J
American journal of human genetics, ISSN 0002-9297, 05/2018, Volume 102, Issue 5, pp. 985 - 994
NAA10 | neurodevelopmental disorder | Ogden syndrome | N-terminal acetylation (NTA) | NAA15 | NatA complex | N-terminal acetyltransferases (NATs) | intellectual disability | autism | congenital heart defects | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Middle Aged | Male | RNA, Messenger - metabolism | Intellectual Disability - genetics | Genetic Variation | Saccharomyces cerevisiae - metabolism | Adult | Female | Child | Abnormalities, Multiple - genetics | Autism Spectrum Disorder - genetics | Cell Line | Genetic Predisposition to Disease | RNA, Messenger - genetics | Gene Expression Regulation | N-Terminal Acetyltransferase A - genetics | Exons - genetics | Mutation - genetics | Phenotype | N-Terminal Acetyltransferase A - metabolism | Pedigree | Adolescent | N-Terminal Acetyltransferase E - genetics | N-Terminal Acetyltransferase E - metabolism | Genetic variation | Physiological aspects | Genetic aspects | Acetylation | Research | Mental retardation | Risk factors | Index Medicus | Report
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5. Full Text A state-based approach to genomics for rare disease and population screening
by East, Kelly M and Kelley, Whitley V and Cannon, Ashley and Cochran, Meagan E and Moss, Irene P and May, Thomas and Nakano-Okuno, Mariko and Sodeke, Stephen O and Edberg, Jeffrey C and Cimino, James J and Fouad, Mona and Curry, William A and Hurst, Anna C. E and Bowling, Kevin M and Thompson, Michelle L and Bebin, E. Martina and Johnson, Robert D and Acemgil, Aras and Crossman, David K and Finnila, Candice R and Gray, David E and Greve, Veronica and Hardy, Sharonda and Hiatt, Susan M and Latner, Donald R and Lawlor, James M. J and Miskell, Edrika L and Narmore, Whitney and Schach, Julie H and Cooper, Gregory M and Might, Matthew and Barsh, Gregory S and Korf, Bruce R and AGHI Consortium
Genetics in medicine, ISSN 1098-3600, 2020
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Index Medicus
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6. 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
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7. Full Text Participant Engagement in Translational Genomics Research: Respect for Persons—and Then Some
by Childerhose, Janet E and Finnila, Candice R and Yu, Joon‐Ho and Koenig, Barbara A and McEwen, Jean and Berg, Stacey L and Wilfond, Benjamin S and Appelbaum, Paul S and Brothers, Kyle B
Ethics & human research, ISSN 2578-2355, 09/2019, Volume 41, Issue 5, pp. 2 - 15
participant engagement | translational genomics research | human subjects research | engaged research | Biomedical Research - ethics | Research Personnel | Genomics | Humans | Translational Medical Research | Focus Groups | Female | Male | Community Participation | Research Subjects | Index Medicus
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8. Full Text Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures
by Zweier, Markus and Begemann, Anaïs and McWalter, Kirsty and Cho, Megan T and Abela, Lucia and Banka, Siddharth and Behring, Bettina and Berger, Andrea and Brown, Chester W and Carneiro, Maryline and Chen, Jiani and Cooper, Gregory M and Finnila, Candice R and Guillen Sacoto, Maria J and Henderson, Alex and Hüffmeier, Ulrike and Joset, Pascal and Kerr, Bronwyn and Lesca, Gaetan and Leszinski, Gloria S and McDermott, John Henry and Meltzer, Meira R and Monaghan, Kristin G and Mostafavi, Roya and Õunap, Katrin and Plecko, Barbara and Powis, Zöe and Purcarin, Gabriela and Reimand, Tiia and Riedhammer, Korbinian M and Schreiber, John M and Sirsi, Deepa and Wierenga, Klaas J and Wojcik, Monica H and Papuc, Sorina M and Steindl, Katharina and Sticht, Heinrich and Rauch, Anita and Deciphering Dev Disorders DDD St and Deciphering Developmental Disorders (DDD) Study
European journal of human genetics : EJHG, ISSN 1018-4813, 2019, Volume 27, Issue 5, pp. 747 - 759
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Phenotypes | Transcription | Tertiary structure | Intellectual disabilities | Gene regulation | mRNA turnover | Epilepsy | Polymerization | Amino acid sequence | Amino acids | Genomes | Nonsense-mediated mRNA decay | Neurodevelopmental disorders | Proteins | Autism | Genotype & phenotype | Convulsions & seizures | Actin | Encephalopathy | Exon skipping | Protein structure | Genotypes | Seizures | Index Medicus | Mutation | Genetics research | Medical genetics
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9. Full Text Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons
by Bell, Scott and Rousseau, Justine and Peng, Huashan and Aouabed, Zahia and Priam, Pierre and Theroux, Jean-Francois and Jefri, Malvin and Tanti, Arnaud and Wu, Hanrong and Kolobova, Ilaria and Silviera, Heika and Manzano-Vargas, Karla and Ehresmann, Sophie and Hamdan, Fadi F and Hettige, Nuwan and Zhang, Xin and Antonyan, Lilit and Nassif, Christina and Ghaloul-Gonzalez, Lina and Sebastian, Jessica and Vockley, Jerry and Begtrup, Amber G and Wentzensen, Ingrid M and Crunk, Amy and Nicholls, Robert D and Herman, Kristin C and Deignan, Joshua L and Al-Hertani, Walla and Efthymiou, Stephanie and Salpietro, Vincenzo and Miyake, Noriko and Makita, Yoshio and Matsumoto, Naomichi and Østern, Rune and Houge, Gunnar and Hafström, Maria and Fassi, Emily and Houlden, Henry and Klein Wassink-Ruiter, Jolien S and Nelson, Dominic and Goldstein, Amy and Dabir, Tabib and van Gils, Julien and Bourgeron, Thomas and Delorme, Richard and Cooper, Gregory M and Martinez, Jose E and Finnila, Candice R and Carmant, Lionel and Lortie, Anne and Oegema, Renske and van Gassen, Koen and Mehta, Sarju G and Huhle, Dagmar and Abou Jamra, Rami and Martin, Sonja and Brunner, Han G and Lindhout, Dick and Au, Margaret and Graham, John M and Coubes, Christine and Turecki, Gustavo and Gravel, Simon and Mechawar, Naguib and Rossignol, Elsa and Michaud, Jacques L and Lessard, Julie and Ernst, Carl and Campeau, Philippe M
American journal of human genetics, ISSN 0002-9297, 05/2019, Volume 104, Issue 5, pp. 815 - 834
stem cells | seizure | ACTL6B | neurodevelopment | intellectual disability | genetic engineering | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Induced Pluripotent Stem Cells - pathology | Chromatin - metabolism | Dendrites - metabolism | Dendrites - pathology | Neurons - pathology | Humans | Child, Preschool | Infant | Male | DNA-Binding Proteins - genetics | Epilepsy - etiology | Neurodevelopmental Disorders - pathology | Actins - genetics | Chromosomal Proteins, Non-Histone - genetics | Young Adult | Adult | Female | Neurons - metabolism | Mutation | Child | Chromatin - genetics | Epilepsy - pathology | Neurodevelopmental Disorders - etiology | Induced Pluripotent Stem Cells - metabolism | Gene mutations | Neurons | Epilepsy | Genetic aspects | Diagnosis | Research | Risk factors | Index Medicus
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10. Full Text Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons
by Bell, Scott and Rousseau, Justine and Peng, Huashan and Aouabed, Zahia and Priam, Pierre and Theroux, Jean-Francois and Jefri, Malvin and Tanti, Arnaud and Wu, Hanrong and Kolobova, Ilaria and Silviera, Heika and Manzano-Vargas, Karla and Ehresmann, Sophie and Hamdan, Fadi F and Hettige, Nuwan and Zhang, Xin and Antonyan, Lilit and Nassif, Christina and Ghaloul-Gonzalez, Lina and Sebastian, Jessica and Vockley, Jerry and Begtrup, Amber G and Wentzensen, Ingrid M and Crunk, Amy and Nicholls, Robert D and Herman, Kristin C and Deignan, Joshua L and Al-Hertani, Walla and Efthymiou, Stephanie and Salpietro, Vincenzo and Miyake, Noriko and Makita, Yoshio and Matsumoto, Naomichi and Ostern, Rune and Houge, Gunnar and Hafstrom, Maria and Fassi, Emily and Houlden, Henry and Wassink-Ruiter, Jolien S. Klein and Nelson, Dominic and Goldstein, Amy and Dabir, Tabib and van Gils, Julien and Bourgeron, Thomas and Delorme, Richard and Cooper, Gregory M and Martinez, Jose E and Finnila, Candice R and Carmant, Lionel and Lortie, Anne
American journal of human genetics, ISSN 0002-9297, 05/2019, Volume 104, Issue 5, pp. 815 - 834
CHROMATIN REMODELING COMPLEX | SWI/SNF COMPLEX | COFFIN-SIRIS SYNDROME | MEMORY | GENE | PROTEIN EXPRESSION | TRANSCRIPTION | DISORDERS | SYNAPTIC PLASTICITY | OLIGODENDROCYTE
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