X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (12187) 12187
Dissertation (128) 128
Book Chapter (78) 78
Publication (40) 40
Conference Proceeding (15) 15
Magazine Article (7) 7
Newsletter (5) 5
Book / eBook (1) 1
Data Set (1) 1
Journal / eJournal (1) 1
Reference (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (9051) 9051
mutation (5391) 5391
female (5234) 5234
male (5078) 5078
genetics & heredity (4523) 4523
exome (4343) 4343
genetic aspects (3140) 3140
whole exome sequencing (3047) 3047
genetics (2581) 2581
adult (2423) 2423
exome - genetics (2417) 2417
genes (2380) 2380
exome sequencing (2370) 2370
pedigree (2351) 2351
genomics (2334) 2334
mutations (2253) 2253
phenotype (2023) 2023
genomes (2008) 2008
research (1901) 1901
middle aged (1801) 1801
child (1789) 1789
analysis (1549) 1549
cancer (1414) 1414
genetic predisposition to disease (1382) 1382
gene (1338) 1338
sequence analysis, dna (1338) 1338
gene mutations (1322) 1322
adolescent (1316) 1316
high-throughput nucleotide sequencing (1308) 1308
disease (1299) 1299
child, preschool (1263) 1263
whole-exome sequencing (1173) 1173
animals (1127) 1127
dna sequencing (1104) 1104
diagnosis (1101) 1101
variants (1090) 1090
aged (1088) 1088
genetic research (1080) 1080
oncology (1080) 1080
dna mutational analysis (1063) 1063
polymorphism, single nucleotide (1031) 1031
proteins (1027) 1027
deoxyribonucleic acid--dna (995) 995
infant (975) 975
young adult (974) 974
genotype (962) 962
genetic variation (949) 949
usage (906) 906
nucleotide sequencing (889) 889
patients (879) 879
health aspects (862) 862
expression (856) 856
mutation - genetics (853) 853
medicine (840) 840
gene expression (837) 837
multidisciplinary sciences (823) 823
biochemistry & molecular biology (803) 803
alleles (801) 801
identification (798) 798
risk factors (779) 779
genetic testing (774) 774
genome (752) 752
genetic association studies (732) 732
research article (722) 722
mutation, missense (716) 716
tumors (702) 702
base sequence (696) 696
clinical neurology (687) 687
phenotypes (685) 685
sequence analysis, dna - methods (684) 684
mice (673) 673
pediatrics (661) 661
neurosciences (660) 660
protein (654) 654
abridged index medicus (641) 641
genome, human (630) 630
heterozygote (630) 630
medical research (623) 623
gene sequencing (618) 618
studies (611) 611
next-generation sequencing (610) 610
homozygote (606) 606
family (600) 600
genome-wide association study (598) 598
genetic disorders (589) 589
molecular sequence data (584) 584
association (574) 574
children (550) 550
bioinformatics (543) 543
intellectual disability (543) 543
amino acid sequence (537) 537
risk (527) 527
care and treatment (520) 520
medical genetics (511) 511
cell biology (510) 510
gene frequency (510) 510
intellectual disability - genetics (503) 503
framework (495) 495
dna (489) 489
high-throughput nucleotide sequencing - methods (486) 486
more...
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (12247) 12247
Japanese (61) 61
French (57) 57
German (35) 35
Chinese (31) 31
Portuguese (30) 30
Russian (18) 18
Korean (12) 12
Spanish (12) 12
Danish (4) 4
Dutch (4) 4
Czech (3) 3
Hungarian (3) 3
Persian (3) 3
Turkish (2) 2
Finnish (1) 1
Hebrew (1) 1
Norwegian (1) 1
Polish (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Nature (London), ISSN 1476-4687, 2013, Volume 506, Issue 7488, pp. 371 - 375
Cervical cancer is responsible for 10-15% of cancer-related deaths in women worldwide(1,2). The aetiological role of infection with high-risk human papilloma... 
DOMAIN | CATALOG | FUSION | MULTIDISCIPLINARY SCIENCES | FRAMEWORK | HUMAN-PAPILLOMAVIRUS | SENSITIVE DETECTION | CANCER | EXPRESSION | SOMATIC MUTATIONS | DISCOVERY | F-Box-WD Repeat-Containing Protein 7 | Receptor, ErbB-2 - genetics | Carcinoma, Squamous Cell - genetics | Carcinoma, Squamous Cell - virology | Genomics | Humans | E1A-Associated p300 Protein - genetics | Core Binding Factor beta Subunit - genetics | Case-Control Studies | Papillomaviridae - genetics | Tumor Suppressor Protein p53 - genetics | DNA Mutational Analysis | Mitogen-Activated Protein Kinase 1 - genetics | Cell Cycle Proteins - genetics | Female | NF-E2-Related Factor 2 - genetics | Adenocarcinoma - genetics | Papillomaviridae - physiology | HLA-B Antigens - genetics | Gene Expression Regulation, Neoplastic - genetics | Proto-Oncogene Proteins c-ets | Virus Integration - genetics | Proto-Oncogene Proteins - genetics | DNA Copy Number Variations - genetics | Transcriptome - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Uterine Cervical Neoplasms - genetics | Adenocarcinoma - virology | Genome, Human - genetics | Papillomavirus Infections - genetics | Exome - genetics | Uterine Cervical Neoplasms - virology | Ubiquitin-Protein Ligases - genetics | F-Box Proteins - genetics | Prevention | Gene mutations | Oncology, Experimental | Exome sequencing | Genetic aspects | Research | Cervical cancer | Cancer | Human papillomavirus | Mutation
Journal Article
by Fitzgerald, T.W and Gerety, S.S and Jones, W.D and Van Kogelenberg, M and King, D.A and McRae, J and Morley, K.I and Parthiban, V and Al-Turki, S and Ambridge, K and Barrett, D.M and Bayzetinova, T and Clayton, S and Coomber, E.L and Gribble, S and Jones, P and Krishnappa, N and Mason, L.E and Middleton, A and Miller, R and Prigmore, E and Rajan, D and Sifrim, A and Tivey, A.R and Ahmed, M and Akawi, N and Andrews, R and Anjum, U and Archer, H and Armstrong, R and Balasubramanian, M and Banerjee, R and Baralle, D and Batstone, P and Baty, D and Bennett, C and Berg, J and Bernhard, B and Bevan, A.P and Blair, E and Blyth, M and Bohanna, D and Bourdon, L and Bourn, D and Brady, A and Bragin, E and Brewer, C and Brueton, L and Brunstrom, K and Bumpstead, S.J and Bunyan, D.J and Burn, J and Burton, J and Canham, N and Castle, B and Chandler, K and Clasper, S and Clayton-Smith, J and Cole, T and Collins, A and Collinson, M.N and Connell, F and Cooper, N and Cox, H and Cresswell, L and Cross, G and Crow, Y and D'Alessandro, M and Dabir, T and Davidson, R and Davies, S and Dean, J and Deshpande, C and Devlin, G and Dixit, A and Dominiczak, A and Donnelly, C and Donnelly, D and Douglas, A and Duncan, A and Eason, J and Edkins, S and Ellard, S and Ellis, P and Elmslie, F and Evans, K and Everest, S and Fendick, T and Fisher, R and Flinter, F and Foulds, N and Fryer, A and Fu, B and Gardiner, C and Gaunt, L and Ghali, N and Gibbons, R and Gomes Pereira, S.L and Goodship, J and Goudie, D and ... and The Deciphering Developmental Disorders Study and Deciphering Dev Disorders Study and Deciphering Developmental Disorders Study
Nature (London), ISSN 1476-4687, 2014, Volume 519, Issue 7542, pp. 223 - 228
Despite three decades of successful, predominantly phenotype-driven discovery of the genetic causes of monogenic disorders(1... 
INTELLECTUAL DISABILITY | HUMAN-DISEASE | DE-NOVO MUTATIONS | MULTIDISCIPLINARY SCIENCES | FRAMEWORK | MODEL | AUTISM SPECTRUM DISORDERS | COPY-NUMBER VARIATION | CHILDREN | Rare Diseases - genetics | Humans | Repressor Proteins | Parents | Child, Preschool | Infant | Male | Developmental Disabilities - genetics | Dynamin I - genetics | Mutation, Missense - genetics | Polycomb Repressive Complex 1 - genetics | Gene Expression Regulation, Developmental | Transposases - genetics | Female | Nuclear Proteins - genetics | Child | Developmental Disabilities - diagnosis | Infant, Newborn | Guanine Nucleotide Exchange Factors - genetics | Protein Phosphatase 2 - genetics | Protein-Serine-Threonine Kinases - genetics | United Kingdom | Phosphoproteins - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Nerve Tissue Proteins - genetics | Genome, Human - genetics | Homeodomain Proteins - genetics | Zebrafish - genetics | Chromosomal Proteins, Non-Histone - genetics | Carrier Proteins - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Animals | Adolescent | Chromosome Aberrations | Genes, Dominant - genetics | Usage | Genomics | Child development deviations | Genetic aspects | Research | Risk factors | Developmental disabilities | Studies | Hypotheses | Genes | Developmental psychology | Families & family life | Genomes | Mutation | Children & youth
Journal Article
Journal Article
Nature (London), ISSN 1476-4687, 2012, Volume 488, Issue 7409, pp. 106 - 110
Medulloblastomas are themost commonmalignant brain tumours in children(1). Identifying and understanding the genetic events that drive these tumours is critical... 
COMPLEX | STRUCTURAL BASIS | LANDSCAPE | CHILDHOOD | MULTIDISCIPLINARY SCIENCES | GENES | Transcription Factors - chemistry | Humans | Hedgehog Proteins - metabolism | Wnt Proteins - metabolism | Promoter Regions, Genetic - genetics | Tumor Suppressor Protein p53 - genetics | TCF Transcription Factors - metabolism | Patched Receptors | Cerebellar Neoplasms - classification | DEAD-box RNA Helicases - metabolism | Medulloblastoma - genetics | Neoplasm Proteins - genetics | Nuclear Proteins - genetics | Child | DEAD-box RNA Helicases - chemistry | DNA Helicases - genetics | Intracellular Signaling Peptides and Proteins - genetics | DNA Helicases - chemistry | Histone-Lysine N-Methyltransferase - genetics | Signal Transduction | Models, Molecular | Repressor Proteins - genetics | Proto-Oncogene Proteins - genetics | Protein Structure, Tertiary - genetics | Cerebellar Neoplasms - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Nuclear Proteins - chemistry | beta Catenin - metabolism | Genome, Human - genetics | beta Catenin - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Histone Methyltransferases | Histone-Lysine N-Methyltransferase - metabolism | LIM Domain Proteins - genetics | Medulloblastoma - classification | Patched-1 Receptor | Receptors, Cell Surface - genetics | Medulloblastoma | Physiological aspects | Development and progression | Genetic aspects | Research | Nucleotide sequencing | Metastasis | DNA sequencing | Cancer
Journal Article
Nature genetics, ISSN 1546-1718, 2012, Volume 44, Issue 12, pp. 1310 - 1315
Journal Article
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 1476-4687, 2017, Volume 542, Issue 7642, pp. 433 - 438
The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important... 
INTELLECTUAL DISABILITY | METAANALYSIS | VARIANTS | GENETICS | HEART-DEFECTS | MULTIDISCIPLINARY SCIENCES | GENES | SEQUENCE | FRAMEWORK | DISCOVERY | GENOME | 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 | 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