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The New England Journal of Medicine, ISSN 0028-4793, 10/2011, Volume 365, Issue 15, pp. 1396 - 1405
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, 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
Angewandte Chemie International Edition, ISSN 1433-7851, 01/2011, Volume 50, Issue 2, pp. 458 - 462
Journal Article
by Gorman, Kathleen M and Meyer, Esther and Grozeva, Detelina and Spinelli, Egidio and McTague, Amy and Sanchis-Juan, Alba and Carss, Keren and Carss, Keren J and Bryant, Emily and Reich, Adi and Schneider, Amy L and Pressler, Ronit M and Simpson, Michael A and Debelle, Geoff D and Wassmer, Evangeline and Morton, Jenny and Sieciechowicz, Diana and Jan-Kamsteeg, Eric and Paciorkowski, Alex R and King, Daniel and King, Mary D and Cross, J. Helen and Cross, Gareth and Poduri, Annapurna and Mefford, Heather C and Scheffer, Ingrid E and Haack, Tobias B and McCullagh, Gary 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 Barrett, Jeffrey C and Bayzetinova, Tanya and Jones, Philip and Jones, Elizabeth and Jones, Wendy D 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 Bennett, David 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, John R and Bradley, Lisa and Brady, Angela and Brady, Angie 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, Guy and Coates, Andrea and Cole, Trevor and Colgiu, Irina and Collins, Amanda and Collins, Peter and Collinson, Morag N and Connell, Fiona and Cooper, Nichola and Cooper, Nicola and Cox, Tony and ... and NIHR BioResource and Deciphering Dev Disorders Study and UK10K Consortium and Deciphering Developmental Disorders Study
The American Journal of Human Genetics, ISSN 0002-9297, 05/2019, Volume 104, Issue 5, pp. 948 - 956
The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon.... 
epilepsy | CACNA1B | epilepsy-dyskinesia | developmental and epileptic encephalopathy (DEE) | ENCEPHALOPATHIES | CLASSIFICATION | DE-NOVO MUTATIONS | CALCIUM-CHANNELS | GENETICS & HEREDITY | MYOCLONUS-DYSTONIA | Allelomorphism | Gene mutations | Epilepsy | Development and progression | Genetic aspects | Research | Risk factors | Report
Journal Article
Medical Education, ISSN 0308-0110, 08/2018, Volume 52, Issue 8, pp. 789 - 790
A brief look at the definition of “threshold concepts” in an effort to provide clarity and direction to health professional education. 
EDUCATION, SCIENTIFIC DISCIPLINES | HEALTH CARE SCIENCES & SERVICES | Learning | Education, Medical - methods | Curriculum | Students, Medical | Health Knowledge, Attitudes, Practice | Humans
Journal Article
Lancet Oncology, The, ISSN 1470-2045, 2017, Volume 18, Issue 7, pp. 929 - 945
Summary Background Adjuvant chemotherapy for early breast cancer has improved outcomes but causes toxicity. The UK TACT2 trial used a 2×2 factorial design to... 
Hematology, Oncology and Palliative Medicine | Capecitabine - administration & dosage | Breast Neoplasms - surgery | Cyclophosphamide - administration & dosage | Antineoplastic Combined Chemotherapy Protocols - administration & dosage | Breast Neoplasms, Male - surgery | Follow-Up Studies | Humans | Middle Aged | Antineoplastic Combined Chemotherapy Protocols - adverse effects | Male | Fatigue - chemically induced | Epirubicin - administration & dosage | Hand-Foot Syndrome - etiology | Diarrhea - chemically induced | Cyclophosphamide - adverse effects | Filgrastim | Infection - chemically induced | Fluorouracil - administration & dosage | Fluorouracil - adverse effects | Time Factors | Female | Neutropenia - chemically induced | Carcinoma - secondary | Carcinoma - drug therapy | Polyethylene Glycols | Carcinoma - surgery | Survival Rate | Neoplasm Recurrence, Local - diagnosis | Breast Neoplasms, Male - drug therapy | Breast Neoplasms - drug therapy | Recombinant Proteins - administration & dosage | Disease-Free Survival | Methotrexate - adverse effects | Capecitabine - adverse effects | Breast Neoplasms - pathology | Chemotherapy, Adjuvant - methods | Quality of Life | Methotrexate - administration & dosage | Epirubicin - adverse effects | Granulocyte Colony-Stimulating Factor - administration & dosage | Medical research | Care and treatment | Anthracyclines | Adjuvant treatment | Clinical trials | Breast cancer | Standards | Cyclophosphamide | Hospitals | Medicine, Experimental | Research institutes | Methotrexate | Health aspects | Cancer | Analysis
Journal Article
by Locke, A.E and Kahali, B and Berndt, S.I and Justice, A.E and Pers, T.H and Day, F.R and Powell, C and Vedantam, S and Buchkovich, M.L and Yang, J and Croteau-Chonka, D.C and Esko, T and Fall, T and Ferreira, T and Gustafsson, S and Kutalik, Z and Luan, J and Magi, R and Randall, J.C and Winkler, T.W and Wood, A.R and Workalemahu, T and Faul, J.D and Smith, J.A and Zhao, J and Zhao, W and Chen, J and Fehrmann, R and Hedman, A.K and Karjalainen, J and Schmidt, E.M and Absher, D and Amin, N and Anderson, D and Beekman, M and Bolton, J.L and Bragg-Gresham, J.L and Buyske, S and Demirkan, A and Deng, G and Ehret, G.B and Feenstra, B and Feitosa, M.F and Fischer, K and Goel, A and Gong, J and Jackson, A.U and Kanoni, S and Kleber, M.E and Kristiansson, K and Lim, U and Lotay, V and Mangino, M and Leach, I. Mateo and Medina-Gomez, C and Medland, S.E and Nalls, M.A and Palmer, C.D and Pasko, D and Pechlivanis, S and Peters, M.J.W and Prokopenko, I and Shungin, D and Stancakova, A and Strawbridge, R.J and Sung, Y. Ju and Tanaka, T and Teumer, A and Trompet, S and Laan, S.W. van der and Setten, J. van and Vliet-Ostaptchouk, J.V. Van and Wang, Z and Yengo, L and Zhang, W and Isaacs, A and Albrecht, E and Arnlov, J and Arscott, G.M and Attwood, A.P and Bandinelli, S and Barrett, A and Bas, I.N and Bellis, C and Bennett, A.J and Berne, C and Blagieva, R and Bluher, M and Bohringer, S and Bonnycastle, L.L and Bottcher, Y and Boyd, H.A and Bruinenberg, M and Caspersen, I.H and Chen, Y.D and Clarke, R and Daw, E.W and Craen, A.J. de and Delgado, G and Dimitriou, M and ... and ADIPOGen Consortium and PAGE Consortium and LifeLines Cohort Study and MIGen Consortium and CARDIOGRAMplusC4D Consortium and MuTHER Consortium and ICBP and CKDGen Consortium and Int Endogene Consortium and GENIE Consortium and MAGIC Investigators and ReproGen Consortium and AGEN-BMI Working Grp and GLGC and International Endogene Consortium and AGEN-BMI Working Group and The PAGE Consortium and The International Endogene Consortium and The MAGIC Investigators and The ReproGen Consortium and The CKDGen Consortium and The ADIPOGen Consortium and The ICBP and The CARDIOGRAMplusC4D Consortium and The GLGC and The GENIE Consortium and The AGEN-BMI Working Group and The MIGen Consortium and The MuTHER Consortium and The LifeLines Cohort Study and Medicinska fakulteten and Science for Life Laboratory, SciLifeLab and Medicinska och farmaceutiska vetenskapsområdet and Medicinsk genetik och genomik and Geriatrik and Uppsala universitet and Klinisk diabetologi och metabolism and Institutionen för immunologi, genetik och patologi and Molekylär medicin and Kardiovaskulär epidemiologi and Institutionen för medicinska vetenskaper and Molekylär epidemiologi and Institutionen för folkhälso- och vårdvetenskap
Nature, ISSN 0028-0836, 2015, Volume 518, Issue 7538, pp. 197 - 206
Journal Article