X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (23) 23
genetics & heredity (15) 15
humans (15) 15
research (11) 11
genetic aspects (10) 10
genetics (10) 10
genomes (9) 9
mutation (9) 9
phenotype (8) 8
animals (7) 7
female (7) 7
genes (7) 7
intellectual disability (7) 7
biotechnology & applied microbiology (6) 6
endogenous retroviruses - genetics (6) 6
gene expression (6) 6
male (6) 6
multidisciplinary sciences (6) 6
physiological aspects (6) 6
algorithms (5) 5
de-novo mutations (5) 5
family (5) 5
genomics (5) 5
mice (5) 5
multiple-sclerosis (5) 5
neurodevelopmental disorders (5) 5
analysis (4) 4
article (4) 4
base sequence (4) 4
cell line (4) 4
diagnosis (4) 4
gene products, gag - genetics (4) 4
genome (4) 4
individuals (4) 4
real-time pcr (4) 4
report (4) 4
schizophrenia (4) 4
viruses (4) 4
adolescent (3) 3
autism (3) 3
biology (3) 3
brain (3) 3
child (3) 3
disease (3) 3
dna helicase (3) 3
epilepsy (3) 3
gene expression regulation (3) 3
gene-expression (3) 3
genetic association studies (3) 3
genetic disorders (3) 3
genetic transcription (3) 3
genotype (3) 3
glycoprotein (3) 3
herv-w (3) 3
human placenta (3) 3
influenza a virus - physiology (3) 3
mice, inbred c57bl (3) 3
mice, inbred strains - genetics (3) 3
phenotyping (3) 3
photographs (3) 3
proteins (3) 3
research article (3) 3
transcription factors - genetics (3) 3
transcriptional activation (3) 3
transition temperature (3) 3
virology (3) 3
1506 (2) 2
adult (2) 2
animal genetics (2) 2
author (2) 2
biochemical research methods (2) 2
braf (2) 2
care and treatment (2) 2
cell biology (2) 2
child development deviations (2) 2
child, preschool (2) 2
chromatin remodeling (2) 2
chromatin remodelling (2) 2
chromosomes (2) 2
classification (2) 2
clinical epigenetics (2) 2
clinical genetics (2) 2
cohort studies (2) 2
computational biology - methods (2) 2
computational neuroscience (2) 2
computer vision (2) 2
copy number variation (2) 2
curve analysis (2) 2
de novo mutation (2) 2
design (2) 2
developmental disabilities (2) 2
developmental disabilities - genetics (2) 2
differentiation (2) 2
discovery (2) 2
disease genetics (2) 2
disorders (2) 2
dk/atira/pure/subjectarea/asjc/1300/1311 (2) 2
dk/atira/pure/subjectarea/asjc/2700/2716 (2) 2
dna - genetics (2) 2
dna probes (2) 2
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


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, ISSN 0028-0836, 02/2017, 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
by Ansari, Morad and Poke, Gemma and Ferry, Quentin and Williamson, Kathleen and Aldridge, Roland and Meynert, Alison M and Bengani, Hemant and Chan, Cheng Yee and Kayserili, Hülya and Avci, Şahin and Hennekam, Raoul C M and Lampe, Anne K and Redeker, Egbert and Homfray, Tessa and Ross, Alison and Falkenberg Smeland, Marie and Mansour, Sahar and Parker, Michael J and Cook, Jacqueline A and Splitt, Miranda and Fisher, Richard B and Fryer, Alan and Magee, Alex C and Wilkie, Andrew and Barnicoat, Angela and Brady, Angela F and Cooper, Nicola S and Mercer, Catherine and Deshpande, Charu and Bennett, Christopher P and Pilz, Daniela T and Ruddy, Deborah and Cilliers, Deirdre and Johnson, Diana S and Josifova, Dragana and Rosser, Elisabeth and Thompson, Elizabeth M and Wakeling, Emma and Kinning, Esther and Stewart, Fiona and Flinter, Frances and Girisha, Katta M and Cox, Helen and Firth, Helen V and Kingston, Helen and Wee, Jamie S and Hurst, Jane A and Clayton-Smith, Jill and Tolmie, John and Vogt, Julie and Tatton–Brown, Katrina and Chandler, Kate and Prescott, Katrina and Wilson, Louise and Behnam, Mahdiyeh and McEntagart, Meriel and Davidson, Rosemarie and Lynch, Sally-Ann and Sisodiya, Sanjay and Mehta, Sarju G and McKee, Shane A and Mohammed, Shehla and Holden, Simon and Park, Soo-Mi and Holder, Susan E and Harrison, Victoria and McConnell, Vivienne and Lam, Wayne K and Green, Andrew J and Donnai, Dian and Bitner-Glindzicz, Maria and Donnelly, Deirdre E and Nellåker, Christoffer and Taylor, Martin S and FitzPatrick, David R
Journal of Medical Genetics, ISSN 0022-2593, 10/2014, Volume 51, Issue 10, pp. 659 - 668
Journal Article
Journal Article
by Blok, LS and Rousseau, J and Twist, J and Ehresmann, S and Takaku, M and Venselaar, H and Rodan, LH and Nowak, CB and Douglas, J and Swoboda, KJ and Steeves, MA and Sahai, I and Stumpel, CTRM and Stegmann, APA and Wheeler, P and Willing, M and Fiala, E and Kochhar, A and Gibson, WT and Cohen, ASA and Agbahovbe, R and Innes, AM and Au, PYB and Rankin, J and Anderson, IJ and Skinner, SA and Louie, RJ and Warren, HE and Afenjar, A and Keren, B and Nava, C and Buratti, J and Isapof, A and Rodriguez, D and Lewandowski, R and Propst, J and van Essen, T and Choi, M and Lee, S and Chae, JH and Price, S and Schnur, RE and Douglas, G and Wentzensen, IM and Zweier, C and Reis, A and Bialer, MG and Moore, C and Koopmans, M and Brilstra, EH and Monroe, GR and van Gassen, KLI and Van Binsbergen, E and Newbury-Ecob, R and Bownass, L and Bader, I and Mayr, JA and Wortmann, SB and Jakielski, KJ and Strand, EA and Kloth, K and Bierhals, T and Roberts, JD and Petrovich, RM and Machida, S and Kurumizaka, H and Lelieveld, S and Pfundt, R and Jansen, S and Deriziotis, P and Faivre, L and Thevenon, J and Assoum, M and Shriberg, L and Kleefstra, T and Brunner, HG and Wade, PA and Fisher, SE and Campeau, PM and Mcrae, JF and Clayton, S and Fitzgerald, TW and Kaplanis, J and Prigmore, E and Rajan, D and Sifrim, A and Aitken, S and Akawi, N and Alvi, M and Ambridge, K and Barrett, DM and Bayzetinova, T and Jones, P and Jones, WD and King, D and Krishnappa, N and Mason, LE and Singh, T and Tivey, AR and Ahmed, M and ... and DDD Study
NATURE COMMUNICATIONS, ISSN 2041-1723, 05/2019, Volume 10
Journal Article
by Blok, LS and Rousseau, J and Twist, J and Ehresmann, S and Takaku, M and Venselaar, H and Rodan, LH and Nowak, CB and Douglas, J and Swoboda, KJ and Steeves, MA and Sahai, I and Stumpel, CTRM and Stegmann, APA and Wheeler, P and Willing, M and Fiala, E and Kochhar, A and Gibson, WT and Cohen, ASA and Agbahovbe, R and Innes, AM and Au, PYB and Rankin, J and Anderson, IJ and Skinner, SA and Louie, RJ and Warren, HE and Afenjar, A and Keren, B and Nava, C and Buratti, J and Isapof, A and Rodriguez, D and Lewandowski, R and Propst, J and van Essen, T and Choi, M and Lee, S and Chae, JH and Price, S and Schnur, RE and Douglas, G and Wentzensen, IM and Zweier, C and Reis, A and Bialer, MG and Moore, C and Koopmans, M and Brilstra, EH and Monroe, GR and van Gassen, KLI and van Binsbergen, E and Newbury-Ecob, R and Bownass, L and Bader, I and Mayr, JA and Wortmann, SB and Jakielski, KJ and Strand, EA and Kloth, K and Bierhals, T and Roberts, JD and Petrovich, RM and Machida, S and Kurumizaka, H and Lelieveld, S and Pfundt, R and Jansen, S and Deriziotis, P and Faivre, L and Thevenon, J and Assoum, M and Shriberg, L and Kleefstra, T and Brunner, HG and Wade, PA and Fisher, SE and Campeau, PM and McRae, JF and Clayton, S and Fitzgerald, TW and Kaplanis, J and Prigmore, E and Rajan, D and Sifrim, A and Aitken, S and Akawi, N and Alvi, M and Ambridge, K and Barrett, DM and Bayzetinova, T and Jones, P and Jones, WD and King, D and Krishnappa, N and Mason, LE and Singh, T and Tivey, AR and Ahmed, M and ... and DDD Study
NATURE COMMUNICATIONS, ISSN 2041-1723, 02/2019, Volume 10
Journal Article
Nature, ISSN 0028-0836, 09/2011, Volume 477, Issue 7364, pp. 289 - 294
Journal Article
by Cogné, Benjamin and Ehresmann, Sophie and Beauregard-Lacroix, Eliane and Rousseau, Justine and Besnard, Thomas and Garcia, Thomas and Petrovski, Slavé and Avni, Shiri and McWalter, Kirsty and Blackburn, Patrick R and Sanders, Stephan J and Uguen, Kévin and Harris, Jacqueline and Cohen, Julie S and Blyth, Moira and Lehman, Anna and Berg, Jonathan and Li, Mindy H and Kini, Usha and Joss, Shelagh and von der Lippe, Charlotte and Gordon, Christopher T and Humberson, Jennifer B and Robak, Laurie and Scott, Daryl A and Sutton, Vernon R and Skraban, Cara M and Johnston, Jennifer J and Poduri, Annapurna and Nordenskjöld, Magnus and Shashi, Vandana and Gerkes, Erica H and Bongers, Ernie M.H.F and Gilissen, Christian and Zarate, Yuri A and Kvarnung, Malin and Lally, Kevin P and Kulch, Peggy A and Daniels, Brina and Hernandez-Garcia, Andres and Stong, Nicholas and McGaughran, Julie and Retterer, Kyle and Tveten, Kristian and Sullivan, Jennifer and Geisheker, Madeleine R and Stray-Pedersen, Asbjorg and Tarpinian, Jennifer M and Klee, Eric W and Sapp, Julie C and Zyskind, Jacob and Holla, Øystein L and Bedoukian, Emma and Filippini, Francesca and Guimier, Anne and Picard, Arnaud and Busk, Øyvind L and Punetha, Jaya and Pfundt, Rolph and Lindstrand, Anna and Nordgren, Ann and Kalb, Fayth and Desai, Megha and Ebanks, Ashley Harmon and Jhangiani, Shalini N and Dewan, Tammie and Coban Akdemir, Zeynep H and Telegrafi, Aida and Zackai, Elaine H and Begtrup, Amber and Song, Xiaofei and Toutain, Annick and Wentzensen, Ingrid M and Odent, Sylvie and Bonneau, Dominique and Latypova, Xénia and Deb, Wallid and Redon, Sylvia and Redon, Richard and Bilan, Frédéric and Legendre, Marine and Troyer, Caitlin and Whitlock, Kerri and Caluseriu, Oana and Murphree, Marine I and Pichurin, Pavel N and Agre, Katherine and Gavrilova, Ralitza and Rinne, Tuula and Park, Meredith and Shain, Catherine and Heinzen, Erin L and Xiao, Rui and Amiel, Jeanne and Lyonnet, Stanislas and Isidor, Bertrand and Biesecker, Leslie G and Lowenstein, Dan and Posey, Jennifer E and Denommé-Pichon, Anne-Sophie and ... and Deciphering Dev Disorders Study and CAUSES Study and Deciphering Developmental Disorders study
The American Journal of Human Genetics, ISSN 0002-9297, 03/2019, Volume 104, Issue 3, pp. 530 - 541
Journal Article
Cell Reports, ISSN 2211-1247, 11/2014, Volume 9, Issue 4, pp. 1482 - 1494
Journal Article