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 (73) 73
life sciences & biomedicine (64) 64
humans (61) 61
genetics & heredity (38) 38
mutation (33) 33
female (31) 31
male (24) 24
biochemistry & molecular biology (22) 22
child (19) 19
phenotype (17) 17
genetic aspects (15) 15
genetics (15) 15
alternative splicing (14) 14
research (14) 14
adolescent (13) 13
rna splicing (13) 13
gene mutations (12) 12
genotype & phenotype (12) 12
intellectual disability (12) 12
animals (10) 10
intellectual disability - genetics (10) 10
proteins (10) 10
splicing (10) 10
adult (9) 9
analysis (9) 9
base sequence (9) 9
child, preschool (9) 9
exons (9) 9
genes (9) 9
multidisciplinary sciences (9) 9
science & technology - other topics (9) 9
brca1 protein - genetics (8) 8
genetic predisposition to disease (8) 8
pedigree (8) 8
phenotypes (8) 8
syndrome (8) 8
breast cancer (7) 7
cancer (7) 7
diagnosis (7) 7
genomics (7) 7
molecular sequence data (7) 7
science (7) 7
biological and medical sciences (6) 6
breast neoplasms - genetics (6) 6
facies (6) 6
genetic association studies (6) 6
genetic screening (6) 6
genomes (6) 6
infant (6) 6
medical research (6) 6
medical sciences (6) 6
mutation - genetics (6) 6
risk factors (6) 6
rna (6) 6
transcription factors - genetics (6) 6
young adult (6) 6
alternative splicing - genetics (5) 5
biology (5) 5
brca1 (5) 5
chromosomes (5) 5
deoxyribonucleic acid--dna (5) 5
dna mutational analysis (5) 5
dna-binding proteins - genetics (5) 5
exons - genetics (5) 5
gene expression (5) 5
genetic disorders (5) 5
genetic variation (5) 5
genotype (5) 5
hela cells (5) 5
intellectual disabilities (5) 5
laboratories (5) 5
life sciences (5) 5
medicine (5) 5
mental retardation (5) 5
neurology (5) 5
oncology (5) 5
rna splice sites (5) 5
rna, messenger - metabolism (5) 5
1506 (4) 4
abridged index medicus (4) 4
alleles (4) 4
binding sites (4) 4
cell biology (4) 4
cell line (4) 4
cell line, tumor (4) 4
chromosome deletion (4) 4
developmental disabilities - genetics (4) 4
disease - genetics (4) 4
genes, neurofibromatosis 1 (4) 4
genetic research (4) 4
genetic testing - methods (4) 4
microcephaly (4) 4
neurodevelopmental disorders (4) 4
ophthalmology (4) 4
point mutation (4) 4
review (4) 4
ribonucleoprotein, u1 small nuclear - metabolism (4) 4
rna precursors - genetics (4) 4
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


1. Full Text Prevalence and architecture of de novo mutations in developmental disorders
by 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 Donnai, Dian and Donnelly, Deirdre and Donnelly, Carina and Douglas, Angela and Douzgou, Sofia and Duncan, Alexis and Eason, Jacqueline and Ellard, Sian and Ellis, Ian and Elmslie, Frances and Evans, Karenza and Everest, Sarah and Fendick, Tina and Fisher, Richard and Flinter, Frances and Foulds, Nicola and Fry, Andrew and Fryer, Alan and Gardiner, Carol and Gaunt, Lorraine and Ghali, Neeti and ... and Deciphering Developmental Disorders Study
Nature (London), ISSN 0028-0836, 02/2017, Volume 542, Issue 7642, pp. 433 - 438
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Prevalence | Humans | Middle Aged | Parents | Male | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | Developmental Disabilities - genetics | Casein Kinase II - genetics | Autoantigens - genetics | Young Adult | ras GTPase-Activating Proteins - genetics | Adult | Female | Child | CDC2 Protein Kinase - genetics | Histone-Lysine N-Methyltransferase - genetics | Repressor Proteins - genetics | Sex Characteristics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Nerve Tissue Proteins - genetics | Sequence Analysis, DNA | Homeodomain Proteins - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Phenotype | Myeloid-Lymphoid Leukemia Protein - genetics | Adolescent | Heredity - genetics | Protein Phosphatase 2C - genetics | Cohort Studies | Child development deviations | Genetic aspects | Genetic disorders | Developmental disabilities | Distribution | Genes | Families & family life | Births | Genomes | Mutation | Causality | Estimates | Age | Index Medicus | TRIO | MYT1L | EHMT1 | HNRNPU | SUV420H1 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SCN1A | MEF2C | CDKL5 | CSNK2A1 | DYRK1A | CASK | ALG13 | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | PhenIcons | SET | KMT2A | ANKRD11 | STXBP1 | FOXG1 | ZC4H2 | ITPR1 | De novo mutation | Seizures | ZBTB18 | CREBBP | SMAD4 | PDHA1 | IQSEC2 | AUTS2 | BCL11A | BRAF | SMARCA2 | GRIN2B | MED13L | GNAO1 | CNOT3 | TCF4 | SCN2A | CDK13 | GABRB3 | SETD5 | KDM5B | Developmental Disease | DDX3X | CHD8 | PTEN | CHD4 | TCF20 | CTCF | CHD2 | WDR45 | SLC6A1 | MECP2 | CHAMP1 | KIF1A | Average Faces | MSL3 | PPP2R5D | SMC1A | ARID1B | DNM1 | CNKSR2 | PACS1 | WAC | ZMYND11 | AHDC1 | NFIX | SATB2 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | Intellectual Disability | SLC35A2 | DYNC1H1 | NAA10 | USP9X | PTPN11 | GATAD2B | ASXL1 | KANSL1 | ASXL3 | CTNNB1 | QRICH1
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
2. Full Text Prediction of single‐nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6
by Raponi, Michela and Kralovicova, Jana and Copson, Ellen and Divina, Petr and Eccles, Diana and Johnson, Peter and Baralle, Diana and Vorechovsky, Igor
Human mutation, ISSN 1059-7794, 04/2011, Volume 32, Issue 4, pp. 436 - 444
BRCA1 | splicing | RNA | gene | Gene | Splicing | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Alternative Splicing | Exons | Humans | Molecular Sequence Data | Regulatory Sequences, Ribonucleic Acid | RNA, Messenger - metabolism | BRCA1 Protein - genetics | RNA Splicing | BRCA1 Protein - metabolism | Base Sequence | Female | Models, Genetic | HeLa Cells | Mutation | Index Medicus | Enhancers | Translation | Databases | BRCA1 protein | Mutagenesis | Exon skipping | Internet
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
3. Full Text ‘Next Generation Sequencing’ as a diagnostic tool in paediatrics
by Baralle, Diana and Ismail, Vardha
Archives of disease in childhood, ISSN 0003-9888, 01/2021, Volume 106, Issue 1, pp. 1 - 2
Pediatrics | Phenotypes | Laboratories | Genomics | Genes | Genomes | Genetic diversity | Patients | Minority & ethnic groups | Population genetics | Multiculturalism & pluralism | Genetic screening | Genotype & phenotype | Next-generation sequencing | Deoxyribonucleic acid--DNA | Index Medicus | Abridged Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
4. 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
5. Full Text CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
by Snijders Blok, C and Rousseau, Justine and Twist, Joanna and Ehresmann, Sophie and Takaku, Motoki and Venselaar, H and Pfundt, R.P and Jansen, S and Kleefstra, T and Brunner, H.G and Fisher, S.E and Campeau, Philippe M and DDD Study and DDD study and The DDD study
Nature communications, ISSN 2041-1723, 2018, Volume 9, Issue 1, pp. 4619 - 12
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Brain | Phenotypes | Disorders | Genomes | Neurodevelopmental disorders | Remodeling | Gene sequencing | Chromatin remodeling | Proteins | DNA helicase | Alterations | Missense mutation | Language | Speech | Children | Mutation | Disruption | Three dimensional models | Adenosine triphosphatase | Genotypes | Index Medicus | Life Sciences | Neurons and Cognition | Biochemistry, Molecular Biology | Neurobiology | Genetics | Biomolecules | Development Biology | Human genetics | Embryology and Organogenesis
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
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
7. Full Text Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network
by Garrett, Alice and Callaway, Alison and Durkie, Miranda and Cubuk, Cankut and Alikian, Mary and Burghel, George J and Robinson, Rachel and Izatt, Louise and Talukdar, Sabrina and Side, Lucy and Cranston, Treena and Palmer-Smith, Sheila and Baralle, Diana and Berry, Ian R and Drummond, James and Wallace, Andrew J and Norbury, Gail and Eccles, Diana M and Ellard, Sian and Lalloo, Fiona and Evans, D Gareth and Woodward, Emma and Tischkowitz, Marc and Hanson, Helen and Turnbull, Clare and CanVIG-UK
Journal of medical genetics, ISSN 0022-2593, 12/2020, Volume 57, Issue 12, pp. 829 - 834
molecular genetics | guidelines | genetics | oncology | clinical genetics | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Breast cancer | Genomic analysis | Laboratories | Genomics | Ovarian cancer | Cancer | Index Medicus | Cancer Genetics | 1506
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
8. 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