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 (7) 7
life sciences & biomedicine (5) 5
mutation (5) 5
humans (4) 4
adolescent (3) 3
child (3) 3
child, preschool (3) 3
female (3) 3
male (3) 3
neurodevelopmental disorders (3) 3
analysis (2) 2
author (2) 2
developmental disabilities - genetics (2) 2
dna helicase (2) 2
genetics (2) 2
genetics & heredity (2) 2
genomics (2) 2
haploinsufficiency (2) 2
heterozygote (2) 2
infant (2) 2
multidisciplinary sciences (2) 2
phenotype (2) 2
research (2) 2
science (2) 2
science & technology - other topics (2) 2
[sdv.gen.gh]life sciences [q-bio]/genetics/human genetics (1) 1
[sdv.gen]life sciences [q-bio]/genetics (1) 1
[sdv]life sciences [q-bio] (1) 1
abridged index medicus (1) 1
activation (1) 1
adult (1) 1
animals (1) 1
anxiety (1) 1
ash1l (1) 1
autism (1) 1
betacoronavirus - isolation & purification (1) 1
biotechnology & applied microbiology (1) 1
ca3 region, hippocampal - metabolism (1) 1
california (1) 1
chromatin remodeling (1) 1
chromatin remodelling (1) 1
clinical epigenetics (1) 1
clinical laboratory techniques (1) 1
coronavirus infections - diagnosis (1) 1
covid-19 testing (1) 1
cytogenetics (1) 1
databases, factual (1) 1
degeneration (1) 1
depletion (1) 1
developmental disabilities (1) 1
developmental disabilities - diagnosis (1) 1
developmental disabilities - enzymology (1) 1
developmental disorders (1) 1
disease genetics (1) 1
dk/atira/pure/subjectarea/asjc/1300/1311 (1) 1
dk/atira/pure/subjectarea/asjc/2700/2716 (1) 1
dna sequencing (1) 1
dna-binding proteins - genetics (1) 1
epilepsy (1) 1
epilepsy - etiology (1) 1
epilepsy - pathology (1) 1
epileptic encephalopathy (1) 1
excitatory postsynaptic potentials - genetics (1) 1
gabaergic neurons - metabolism (1) 1
gene expression (1) 1
general & internal medicine (1) 1
genes (1) 1
genetic aspects (1) 1
genetic research (1) 1
genetic variation (1) 1
genetic variation - genetics (1) 1
genome, human - genetics (1) 1
genome-wide association study - methods (1) 1
genomes (1) 1
global developmental delay (1) 1
h3k4 methylation (1) 1
hippocampus (1) 1
histone deacetylase (1) 1
histone demethylases - genetics (1) 1
histone lysine demethylase (1) 1
histone lysine methyltransferase (1) 1
histone-lysine n-methyltransferase - genetics (1) 1
human genetics (1) 1
hypothalamus (1) 1
hypothalamus - metabolism (1) 1
incidental findings (1) 1
infant, newborn (1) 1
information dissemination (1) 1
intellectual disability (1) 1
intellectual disability - genetics (1) 1
intellectual disability - metabolism (1) 1
internal medicine (1) 1
kdm5b (1) 1
kmt2b (1) 1
kmt2c (1) 1
kmt2e (1) 1
kmt5b (1) 1
life sciences (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


1. Full Text Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
by Wright, Caroline F, Dr and Fitzgerald, Tomas W, MS and Jones, Wendy D, MBBS and Clayton, Stephen, MRes and McRae, Jeremy F, PhD and van Kogelenberg, Margriet, PhD and King, Daniel A, MD and Ambridge, Kirsty, BSc and Barrett, Daniel M, BSc and Bayzetinova, Tanya, BSc and Bevan, A Paul, PhD and Bragin, Eugene, MSc and Chatzimichali, Eleni A, PhD and Gribble, Susan, PhD and Jones, Philip, MSc and Krishnappa, Netravathi, MSc and Mason, Laura E, BSc and Miller, Ray, PhD and Morley, Katherine I, PhD and Parthiban, Vijaya, PhD and Prigmore, Elena, PhD and Rajan, Diana, MSc and Sifrim, Alejandro, PhD and Swaminathan, G Jawahar, PhD and Tivey, Adrian R, MSc and Middleton, Anna, PhD and Parker, Michael, Prof and Carter, Nigel P, PhD and Barrett, Jeffrey C, PhD and Hurles, Matthew E, PhD and FitzPatrick, David R, Prof and Firth, Helen V, DM and on behalf of the DDD study and DDD Study and DDD study
The Lancet (British edition), ISSN 0140-6736, 2015, Volume 385, Issue 9975, pp. 1305 - 1314
Internal Medicine | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Humans | Child, Preschool | Incidental Findings | Infant | Male | Developmental Disabilities - genetics | Genome, Human - genetics | Information Dissemination | Specimen Handling | Phenotype | Adolescent | Female | Heterozygote | Genetic Variation - genetics | Genome-Wide Association Study - methods | Child | Developmental Disabilities - diagnosis | Infant, Newborn | Medical research | Analysis | Genomics | Medicine, Experimental | Genetic research | Genomes | Nucleotide sequencing | DNA sequencing | Mutation | Medical diagnosis | Genes | Developmental disabilities | Index Medicus | Abridged Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
2. Full Text Blueprint for a pop-up SARS-CoV-2 testing lab
by Amen, Alexandra M and Amen, Alexandra M and Barry, Kerrie W and Boyle, John M and Brook, Cara E and Choo, Seunga and Cornmesser, L. T and Dilworth, David J and Doudna, Jennifer A and Ehrenberg, Alexander J and Fedrigo, Indro and Friedline, Skyler E and Graham, Thomas G. W and Green, Ralph and Hamilton, Jennifer R and Hirsh, Ariana and Hochstrasser, Megan L and Hockemeyer, Dirk and Krishnappa, Netravathi and Lari, Azra and Li, Hanqin and Lin-Shiao, Enrique and Lu, Tianlin and Lyons, Elijah F and Mark, Kevin G and Martell, Lisa Argento and Martins, A. Raquel O and McDevitt, Shana L and Mitchell, Patrick S and Moehle, Erica A and Naca, Christine and Nandakumar, Divya and O'Brien, Elizabeth and Pappas, Derek J and Pestal, Kathleen and Quach, Diana L and Rubin, Benjamin E and Sachdeva, Rohan and Stahl, Elizabeth C and Syed, Abdullah Muhammad and Tan, I-Li and Tollner, Amy L and Tsuchida, Connor A and Tsui, C. Kimberly and Turkalo, Timothy K and Urnov, Fyodor D and Warf, M. Bryan and Whitney, Oscar N and Witkowsky, Lea B and IGI Testing Consortium
Nature biotechnology, ISSN 1087-0156, 07/2020, Volume 38, Issue 7, pp. 791 - 797
Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Science & Technology | SARS-CoV-2 | Betacoronavirus - isolation & purification | COVID-19 Testing | Clinical Laboratory Techniques | Coronavirus Infections - diagnosis | Humans | Student Health Services | California | Mobile Health Units - legislation & jurisprudence | Severe acute respiratory syndrome coronavirus 2 | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
3. Full Text Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders
by Faundes, Víctor and Newman, William G and Bernardini, Laura and Canham, Natalie and Clayton-Smith, Jill and Dallapiccola, Bruno and Davies, Sally J and Demos, Michelle K and Goldman, Amy and Gill, Harinder and Horton, Rachel and Kerr, Bronwyn and Kumar, Dhavendra and Lehman, Anna and McKee, Shane and Morton, Jenny and Parker, Michael J and Rankin, Julia and Robertson, Lisa and Temple, I. Karen and Adam, Shelin and du Souich, Christèle and Elliott, Alison M and Lehman, Anna and Mwenifumbo, Jill and Nelson, Tanya N and van Karnebeek, Clara and Friedman, Jan M and McRae, Jeremy F and Clayton, Stephen and Fitzgerald, Tomas W and Kaplanis, Joanna and Prigmore, Elena and Rajan, Diana and Sifrim, Alejandro and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Ambridge, Kirsty and Barrett, Daniel M and Bayzetinova, Tanya and Jones, Philip and Jones, Wendy D and King, Daniel and Krishnappa, Netravathi and Mason, Laura E and Singh, Tarjinder and Tivey, Adrian R and Ahmed, Munaza and Anjum, Uruj and Archer, Hayley and Armstrong, Ruth and Awada, Jana and Balasubramanian, Meena and Banka, Siddharth and Baralle, Diana and Barnicoat, Angela and Batstone, Paul and Baty, David and Bennett, Chris and Berg, Jonathan and Bernhard, Birgitta and Bevan, A. Paul and Bitner-Glindzicz, Maria and Blair, Edward and Blyth, Moira and Bohanna, David and Bourdon, Louise and Bourn, David and Bradley, Lisa and Brady, Angela and Brent, Simon and Brewer, Carole and Brunstrom, Kate and Bunyan, David J and Burn, John and Canham, Natalie and Castle, Bruce and Chandler, Kate and Chatzimichali, Elena and Cilliers, Deirdre and Clarke, Angus and Clasper, Susan and Clayton-Smith, Jill and Clowes, Virginia and Coates, Andrea and Cole, Trevor and Colgiu, Irina and Collins, Amanda and Collinson, Morag N and Connell, Fiona and Cooper, Nicola and Cox, Helen and Cresswell, Lara and Cross, Gareth and Crow, Yanick and D’Alessandro, Mariella and Dabir, Tabib and Davidson, Rosemarie and Davies, Sally and ... and Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Study and The Deciphering Developmental Disorders (DDD) Study and Clin Assessment Utility Sequencin and Deciphering Dev Disorders DD and Deciphering Developmental Disorders (DDD) Study
American journal of human genetics, ISSN 0002-9297, 01/2018, Volume 102, Issue 1, pp. 175 - 187
KDM5B | histone lysine methyltransferase | KMT2C | histone lysine demethylase | KMT2B | Developmental disorders | chromatin remodeling | KMT5B | ASH1L | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Histone-Lysine N-Methyltransferase - genetics | Developmental Disabilities - enzymology | Humans | Adolescent | Child, Preschool | Female | Male | Developmental Disabilities - genetics | Mutation | Child | Histone Demethylases - genetics | Haploinsufficiency | Methyltransferases | Lysine | Analysis | Genomics | Cytogenetics | Methylation | Pediatric neurology | Index Medicus | Report
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
4. Full Text Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus–CA3 projection
by Zhou, Wenjun and He, Yanlin and Rehman, Atteeq U and Kong, Yan and Hong, Sungguan and Ding, Guolian and Yalamanchili, Hari Krishna and Wan, Ying-Wooi and Paul, Basil and Wang, Chuhan and Gong, Yingyun and Zhou, Wenxian and Liu, Hao and Dean, John and Scalais, Emmanuel and O’Driscoll, Mary and Morton, Jenny E. V and Hou, Xinguo and Wu, Qi and Tong, Qingchun and Liu, Zhandong and Liu, Pengfei and Xu, Yong and Sun, Zheng and DDD Study and DDD study
Nature neuroscience, ISSN 1097-6256, 02/2019, Volume 22, Issue 2, pp. 205 - 217
Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Memory Disorders - genetics | Nuclear Receptor Co-Repressor 2 - genetics | Memory Disorders - metabolism | Mice, Transgenic | Nuclear Receptor Co-Repressor 1 - genetics | Intellectual Disability - genetics | Intellectual Disability - metabolism | Animals | Hypothalamus - metabolism | Neuronal Plasticity - physiology | Receptors, GABA-A - genetics | Nuclear Receptor Co-Repressor 1 - metabolism | CA3 Region, Hippocampal - metabolism | Neural Pathways - metabolism | Nuclear Receptor Co-Repressor 2 - metabolism | Mice | Receptors, GABA-A - metabolism | GABAergic Neurons - metabolism | Excitatory Postsynaptic Potentials - genetics | Databases, Factual | Memory - physiology | Gene expression | Research | Hypothalamus | Potentiation | Histone deacetylase | γ-Aminobutyric acid A receptors | Neurons | Long-term potentiation | SMRT protein | Hypothalamus (lateral) | Projection | Activation | Social factors | Neurodevelopmental disorders | Depletion | Social interactions | Synaptic plasticity | Anxiety | Mutation | Hippocampus | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
5. Full Text Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
by O’Donnell-Luria, Anne H and Pais, Lynn S and Faundes, VĂ­ctor and Wood, Jordan C and Sveden, Abigail and Luria, Victor and Abou Jamra, Rami and Accogli, Andrea and Amburgey, Kimberly and Anderlid, Britt Marie and Azzarello-Burri, Silvia and Basinger, Alice A and Bianchini, Claudia and Bird, Lynne M and Buchert, Rebecca and Carre, Wilfrid and Ceulemans, Sophia and Charles, Perrine and Cox, Helen and Culliton, Lisa and CurrĂ², Aurora and McRae, Jeremy F and Clayton, Stephen and Fitzgerald, Tomas W and Kaplanis, Joanna and Prigmore, Elena and Rajan, Diana and Sifrim, Alejandro and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Ambridge, Kirsty and Barrett, Daniel M and Bayzetinova, Tanya and Jones, Philip and Jones, Wendy D and King, Daniel and Krishnappa, Netravathi and Mason, Laura E and Singh, Tarjinder and Tivey, Adrian R and Ahmed, Munaza and Anjum, Uruj and Archer, Hayley and Armstrong, Ruth and Awada, Jana and Balasubramanian, Meena and Banka, Siddharth and Baralle, Diana and Barnicoat, Angela and Batstone, Paul and Baty, David and Bennett, Chris and Berg, Jonathan and Bernhard, Birgitta and Bevan, A. Paul and Bitner-Glindzicz, Maria and Blair, Edward and Blyth, Moira and Bohanna, David and Bourdon, Louise and Bourn, David and Bradley, Lisa and Brady, Angela and Brent, Simon and Brewer, Carole and Brunstrom, Kate and Bunyan, David J and Burn, John and Canham, Natalie and Castle, Bruce and Chandler, Kate and Chatzimichali, Elena and Cilliers, Deirdre and Clarke, Angus and Clasper, Susan and Clayton-Smith, Jill and Clowes, Virginia and Coates, Andrea and Cole, Trevor and Colgiu, Irina and Collins, Amanda and Collinson, Morag N and Connell, Fiona and Cooper, Nicola and Cox, Helen and Cresswell, Lara and Cross, Gareth and Crow, Yanick and D’Alessandro, Mariella and Dabir, Tabib and Davidson, Rosemarie and Davies, Sally and de Vries, Dylan and Dean, John and Deshpande, Charu and Devlin, Gemma and Dixit, Abhijit and Dobbie, Angus and Donaldson, Alan and ... and Deciphering Developmental Disorders (DDD) Study and Deciphering Dev Disorders DDD
American journal of human genetics, ISSN 0002-9297, 06/2019, Volume 104, Issue 6, pp. 1210 - 1222
KMT2E | epilepsy | H3K4 methylation | global developmental delay | neurodevelopmental disorder | intellectual disability | epileptic encephalopathy | autism | yes | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Child, Preschool | Infant | Male | DNA-Binding Proteins - genetics | Epilepsy - etiology | Neurodevelopmental Disorders - pathology | Haploinsufficiency | Genetic Variation | Young Adult | Phenotype | Pedigree | Adolescent | Adult | Female | Heterozygote | Child | Epilepsy - pathology | Neurodevelopmental Disorders - etiology | Genetic variation | Epilepsy | Nervous system | Genetic aspects | Degeneration | Research | Risk factors | Index Medicus | Life Sciences | Genetics | Human genetics | Report | Medicin och hälsovetenskap
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
6. Full Text Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018)
by Blok, Lot Snijders and Rousseau, Justine and Twist, Joanna and Ehresmann, Sophie and Takaku, Motoki and Venselaar, Hanka and Rodan, Lance H and Nowak, Catherine B and Douglas, Jessica and Swoboda, Kathryn J and Steeves, Marcie A and Sahai, Inderneel and Stumpel, Connie T R M and Stegmann, Alexander P A and Wheeler, Patricia and Willing, Marcia and Fiala, Elise and Kochhar, Aaina and Gibson, William T and Cohen, Ana S A and Agbahovbe, Ruky and Innes, A Micheil and Au, P Y Billie and Rankin, Julia and Anderson, Ilse J and Skinner, Steven A and Louie, Raymond J and Warren, Hannah E and Afenjar, Alexandra and Keren, Boris and Nava, Caroline and Buratti, Julien and Isapof, Arnaud and Rodriguez, Diana and Lewandowski, Raymond and Propst, Jennifer and van Essen, Ton and Choi, Murim and Lee, Sangmoon and Chae, Jong H and Price, Susan and Schnur, Rhonda E and Douglas, Ganka and Wentzensen, Ingrid M and Zweier, Christiane and Reis, André and Bialer, Martin G and Moore, Christine and Koopmans, Marije and Brilstra, Eva H and Monroe, Glen R and van Gassen, Koen L I and van Binsbergen, Ellen and Newbury-Ecob, Ruth and Bownass, Lucy and Bader, Ingrid and Mayr, Johannes A and Wortmann, Saskia B and Jakielski, Kathy J and Strand, Edythe A and Kloth, Katja and Bierhals, Tatjana and Roberts, John D and Petrovich, Robert M and Machida, Shinichi and Kurumizaka, Hitoshi and Lelieveld, Stefan and Pfundt, Rolph and Jansen, Sandra and Deriziotis, Pelagia and Faivre, Laurence and Thevenon, Julien and Assoum, Mirna and Shriberg, Lawrence and Kleefstra, Tjitske and Brunner, Han G and Wade, Paul A and Fisher, Simon E and Campeau, Philippe M and DDD study and The DDD study
Nature communications, ISSN 2041-1723, 02/2019, Volume 10, Issue 1, pp. 1 - 4
DNA helicase | Neurodevelopmental disorders | Mutation
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
7. Full Text Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
by Snijders Blok, Lot and Rousseau, Justine and Twist, Joanna and Ehresmann, Sophie and Takaku, Motoki and Venselaar, Hanka and Rodan, Lance H and Nowak, Catherine B and Douglas, Jessica and Swoboda, Kathryn J and Steeves, Marcie A and Sahai, Inderneel and Stumpel, Connie T R M and Stegmann, Alexander P A and Wheeler, Patricia and Willing, Marcia and Fiala, Elise and Kochhar, Aaina and Gibson, William T and Cohen, Ana S A and Agbahovbe, Ruky and Innes, A Micheil and Au, P Y Billie and Rankin, Julia and Anderson, Ilse J and Skinner, Steven A and Louie, Raymond J and Warren, Hannah E and Afenjar, Alexandra and Keren, Boris and Nava, Caroline and Buratti, Julien and Isapof, Arnaud and Rodriguez, Diana and Lewandowski, Raymond and Propst, Jennifer and van Essen, Ton and Choi, Murim and Lee, Sangmoon and Chae, Jong H and Price, Susan and Schnur, Rhonda E and Douglas, Ganka and Wentzensen, Ingrid M and Zweier, Christiane and Reis, André and Bialer, Martin G and Moore, Christine and Koopmans, Marije and Brilstra, Eva H and Monroe, Glen R and van Gassen, Koen L I and van Binsbergen, Ellen and Newbury-Ecob, Ruth and Bownass, Lucy and Bader, Ingrid and Mayr, Johannes A and Wortmann, Saskia B and Jakielski, Kathy J and Strand, Edythe A and Kloth, Katja and Bierhals, Tatjana and Roberts, John D and Petrovich, Robert M and Machida, Shinichi and Kurumizaka, Hitoshi and Lelieveld, Stefan and Pfundt, Rolph and Jansen, Sandra and Deriziotis, Pelagia and Faivre, Laurence and Thevenon, Julien and Assoum, Mirna and Shriberg, Lawrence and Kleefstra, Tjitske and Brunner, Han G and Wade, Paul A and Fisher, Simon E and Campeau, Philippe M and DDD study and The DDD study
Nature communications, ISSN 2041-1723, 05/2019, Volume 10, Issue 1, pp. 2079 - 2079
DNA helicase | Neurodevelopmental disorders | Mutation
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights