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by Klionsky, Daniel J and Abdalla, Fabio C and Abeliovich, Hagai and Abraham, Robert T and Acevedo-Arozena, Abraham and Adeli, Khosrow and Agholme, Lotta and Agnello, Maria and Agostinis, Patrizia and Aguirre-Ghiso, Julio A and Ahn, Hyung Jun and Ait-Mohamed, Ouardia and Ait-Si-Ali, Slimane and Akematsu, Takahiko and Akira, Shizuo and Al-Younes, Hesham M and Al-Zeer, Munir A and Albert, Matthew L and Albin, Roger L and Alegre-Abarrategui, Javier and Aleo, Maria Francesca and Alirezaei, Mehrdad and Almasan, Alexandru and Almonte-Becerril, Maylin and Amano, Atsuo and Amaravadi, Ravi K and Amarnath, Shoba and Amer, Amal O and Andrieu-Abadie, Nathalie and Anantharam, Vellareddy and Ann, David K and Anoopkumar-Dukie, Shailendra and Aoki, Hiroshi and Apostolova, Nadezda and Arancia, Giuseppe and Aris, John P and Asanuma, Katsuhiko and Asare, Nana Y.O and Ashida, Hisashi and Askanas, Valerie and Askew, David S and Auberger, Patrick and Baba, Misuzu and Backues, Steven K and Baehrecke, Eric H and Bahr, Ben A and Bai, Xue-Yuan and Bailly, Yannick and Baiocchi, Robert and Baldini, Giulia and Balduini, Walter and Ballabio, Andrea and Bamber, Bruce A and Bampton, Edward T.W and Juhász, Gábor and Bartholomew, Clinton R and Bassham, Diane C and Bast, Robert C and Batoko, Henri and Bay, Boon-Huat and Beau, Isabelle and Béchet, Daniel M and Begley, Thomas J and Behl, Christian and Behrends, Christian and Bekri, Soumeya and Bellaire, Bryan and Bendall, Linda J and Benetti, Luca and Berliocchi, Laura and Bernardi, Henri and Bernassola, Francesca and Besteiro, Sébastien and Bhatia-Kissova, Ingrid and Bi, Xiaoning and Biard-Piechaczyk, Martine and Blum, Janice S and Boise, Lawrence H and Bonaldo, Paolo and Boone, David L and Bornhauser, Beat C and Bortoluci, Karina R and Bossis, Ioannis and Bost, Frédéric and Bourquin, Jean-Pierre and Boya, Patricia and Boyer-Guittaut, Michaël and Bozhkov, Peter V and Brady, Nathan R and Brancolini, Claudio and Brech, Andreas and Brenman, Jay E and Brennand, Ana and Bresnick, Emery H and Brest, Patrick and Bridges, Dave and Bristol, Molly L and Brookes, Paul S and Brown, Eric J and Brumell, John H and ... and Linköpings universitet and Institutionen för klinisk och experimentell medicin and Geriatrik and Institutionen för medicin och hälsa and Farmakologi and Experimentell patologi and Hälsouniversitetet and Cellbiologi
Autophagy, ISSN 1554-8627, 04/2012, Volume 8, Issue 4, pp. 445 - 544
Journal Article
by Ivezić, Željko and Kahn, Steven M and Tyson, J. Anthony and Abel, Bob and Acosta, Emily and Allsman, Robyn and Alonso, David and Alsayyad, Yusra and Anderson, Scott F and Andrew, John and Angel, James Roger P and Angeli, George Z and Ansari, Reza and Antilogus, Pierre and Araujo, Constanza and Armstrong, Robert and Arndt, Kirk T and Astier, Pierre and Aubourg, Eric and Auza, Nicole and Axelrod, Tim S and Bard, Deborah J and Barr, Jeff D and Barrau, Aurelian and Bartlett, James G and Bauer, Amanda E and Bauman, Brian J and Baumont, Sylvain and Bechtol, Ellen and Bechtol, Keith and Becker, Andrew C and Becla, Jacek and Beldica, Cristina and Bellavia, Steve and Bianco, Federica B and Biswas, Rahul and Blanc, Guillaume and Blazek, Jonathan and Blandford, Roger D and Bloom, Josh S and Bogart, Joanne and Bond, Tim W and Booth, Michael T and Borgland, Anders W and Borne, Kirk and Bosch, James F and Boutigny, Dominique and Brackett, Craig A and Bradshaw, Andrew and Brandt, William Nielsen and Brown, Michael E and Bullock, James S and Burchat, Patricia and Burke, David L and Cagnoli, Gianpietro and Calabrese, Daniel and Callahan, Shawn and Callen, Alice L and Carlin, Jeffrey L and Carlson, Erin L and Chandrasekharan, Srinivasan and Charles-Emerson, Glenaver and Chesley, Steve and Cheu, Elliott C and Chiang, Hsin-Fang and Chiang, James and Chirino, Carol and Chow, Derek and Ciardi, David R and Claver, Charles F and Cohen-Tanugi, Johann and Cockrum, Joseph J and Coles, Rebecca and Connolly, Andrew J and Cook, Kem H and Cooray, Asantha and Covey, Kevin R and Cribbs, Chris and Cui, Wei and Cutri, Roc and Daly, Philip N and Daniel, Scott F and Daruich, Felipe and Daubard, Guillaume and Daues, Greg and Dawson, William and Delgado, Francisco and Dellapenna, Alfred and Peyster, Robert De and Val-Borro, Miguel De and Digel, Seth W and Doherty, Peter and Dubois, Richard and Dubois-Felsmann, Gregory P and Durech, Josef and Economou, Frossie and Eifler, Tim and Eracleous, Michael and Emmons, Benjamin L and Neto, Angelo Fausti and ... and SLAC National Accelerator Lab., Menlo Park, CA (United States) and Brookhaven National Lab. (BNL), Upton, NY (United States) and Fysikum and Naturvetenskapliga fakulteten and Stockholms universitet and Oskar Klein-centrum för kosmopartikelfysik (OKC)
Astrophysical Journal, ISSN 0004-637X, 03/2019, Volume 873, Issue 2, p. 111
Journal Article
Veterinary Clinics of North America - Food Animal Practice, ISSN 0749-0720, 11/2011, Volume 27, Issue 3, pp. 537 - 546
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
PLoS ONE, ISSN 1932-6203, 08/2016, Volume 11, Issue 8, p. e0160353
Journal Article