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by Hu, H and Haas, S.A and Chelly, J and Esch, H. Van and Raynaud, M and Brouwer, A.P. de and Weinert, S and Froyen, G and Frints, S.G and Laumonnier, F and Zemojtel, T and Love, M.I and Richard, H and Emde, A.K and Bienek, M and Jensen, C and Hambrock, M and Fischer, U and Langnick, C and Feldkamp, M and Wissink-Lindhout, W and Lebrun, N and Castelnau, L and Rucci, J and Montjean, R and Dorseuil, O and Billuart, P and Stuhlmann, T and Shaw, M and Corbett, M.A and Gardner, A and Willis-Owen, S and Tan, C and Friend, K.L and Belet, S and Roozendaal, K.E. van and Jimenez-Pocquet, M and Moizard, M.P and Ronce, N and Sun, R and O'Keeffe, S and Chenna, R and Bommel, A. van and Goke, J and Hackett, A and Field, M and Christie, L and Boyle, J and Haan, E and Nelson, J and Turner, G and Baynam, G and Gillessen-Kaesbach, G and Muller, U and Steinberger, D and Budny, B and Badura-Stronka, M and Latos-Bielenska, A and Ousager, L.B and Wieacker, P and Roiguez Criado, G and Bondeson, M.L and Anneren, G and Dufke, A and Cohen, M and Maldergem, L. Van and Vincent-Delorme, C and Echenne, B and Simon-Bouy, B and Kleefstra, T and Willemsen, M.H and Fryns, J.P and Devriendt, K and Ullmann, R and Vingron, M and Wrogemann, K and Wienker, T.F and Tzschach, A and Bokhoven, H. van and Gecz, J and Jentsch, T.J and Chen, W and Ropers, H.H and Kalscheuer, V.M and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för immunologi, genetik och patologi and Uppsala universitet and Medicinsk genetik och genomik
Molecular Psychiatry, ISSN 1359-4184, 2016, Volume 21, Issue 1, pp. 133 - 148
X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID... 
LYSOSOMAL STORAGE DISEASE | HOMEODOMAIN TRANSCRIPTION FACTORS | PSYCHIATRY | BIOCHEMISTRY & MOLECULAR BIOLOGY | SPINE MORPHOGENESIS | AUTISM SPECTRUM DISORDERS | RIBOSOME BIOGENESIS | NEUROSCIENCES | LINKED MENTAL-RETARDATION | DE-NOVO MUTATIONS | NEURITE OUTGROWTH | MARTIN-PROBST SYNDROME | CHLORIDE CHANNEL | Neurons - pathology | Humans | Histone Acetyltransferases - genetics | Male | Chloride Channels - genetics | RNA, Messenger - metabolism | Genetic Variation | Transcription Factor TFIID - genetics | Mental Retardation, X-Linked - genetics | Adult | Neurons - metabolism | Cyclin-Dependent Kinases - genetics | Nuclear Proteins - genetics | Intracellular Signaling Peptides and Proteins - genetics | Microfilament Proteins - genetics | Cells, Cultured | TATA-Binding Protein Associated Factors - genetics | Mice, Knockout | Chloride Channels - metabolism | Animals | Adaptor Proteins, Signal Transducing - genetics | Adolescent | High-Throughput Nucleotide Sequencing | Ubiquitin-Protein Ligases - genetics | Cohort Studies | Complications and side effects | Usage | Care and treatment | Genetic aspects | Nucleotide sequencing | Mental retardation | DNA sequencing | Original | Basic Medicine | Neurosciences | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinsk bioteknologi | Klinisk medicin | Medical Biotechnology (with a focus on Cell Biology (including Stem Cell Biology), Molecular Biology, Microbiology, Biochemistry or Biopharmacy) | Medicinsk bioteknologi (med inriktning mot cellbiologi (inklusive stamcellsbiologi), molekylärbiologi, mikrobiologi, biokemi eller biofarmaci) | Medical Biotechnology | Clinical Medicine | Medicinska och farmaceutiska grundvetenskaper | Psykiatri | Psychiatry | Neurovetenskaper
Journal Article
Gene, ISSN 0378-1119, 05/2019, Volume 699, pp. 110 - 114
Tricho-hepatic-enteric syndrome (THES) is a genetically heterogeneous rare syndrome (OMIM: (THES1) and 614602 (THES2)) that typically presents in the neonatal... 
RNA exosome | SKIV2L | Undiagnosed | SKI complex | Next generation sequencing | GENETICS & HEREDITY | Sports facilities | Phosphatases | Sarcoma | RNA | Immunoglobulin G
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 07/2018, Volume 55, Issue 7, pp. 497 - 504
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 09/2008, Volume 146A, Issue 17, pp. 2301 - 2303
Journal Article
by Srivastava, A. K and Wang, Y and Huang, R and Skinner, C and Thompson, T and Pollard, L and Wood, T and Luo, F and Stevenson, R and Polimanti, R and Gelernter, J and Lin, X and Lim, I. Y and Wu, Y and Teh, A. L and Chen, L and Aris, I. M and Soh, S. E and Tint, M. T and MacIsaac, J. L and Yap, F and Kwek, K and Saw, S. M and Kobor, M. S and Meaney, M. J and Godfrey, K. M and Chong, Y. S and Holbrook, J. D and Lee, Y. S and Gluckman, P. D and Karnani, N and Kapoor, A and Lee, D and Chakravarti, A and Maercker, C and Graf, F and Boutros, M and Stamoulis, G and Santoni, F and Makrythanasis, P and Letourneau, A and Guipponi, M and Panousis, N and Garieri, M and Ribaux, P and Falconnet, E and Borel, C and Antonarakis, S. E and Kumar, S and Curran, J and Blangero, J and Chatterjee, S and Akiyama, J and Auer, D and Berrios, C and Pennacchio, L and Donti, T. R and Cappuccio, G and Miller, M and Atwal, P and Kennedy, A and Cardon, A and Bacino, C and Emrick, L and Hertecant, J and Baumer, F and Porter, B and Bainbridge, M and Bonnen, P and Graham, B and Sutton, R and Sun, Q and Elsea, S and Hu, Z and Wang, P and Zhu, Y and Zhao, J and Xiong, M and Bennett, David A and Hidalgo-Miranda, A and Romero-Cordoba, S and Rodriguez-Cuevas, S and Rebollar-Vega, R and Tagliabue, E and Iorio, M and D’Ippolito, E and Baroni, S and Kaczkowski, B and Tanaka, Y and Kawaji, H and Sandelin, A and Andersson, R and Itoh, M and Lassmann, T and Hayashizaki, Y and Carninci, P and Forrest, A. R. R and Semple, C. A and Rosenthal, E. A and Shirts, B and ... and The Philippine Cardiogenomics Study Group and Melbourne Genomics Health Alliance and Lifepool and NHLBI GO Exome Sequencing Project and on behalf of 1 and Clark Kendrick C. Go and GUSTO study group and CHARGE and NHLBI Exome Sequence Project Working Groups and ICGC PCAWG Structural Alterations Group and The FANTOM5 Consortium and BioNano Genomics and Global Alliance for Genomics and Health - Regulatory and Ethics Working Group and The FANTOM Consortium
Human genomics, ISSN 1479-7364, 05/2016, Volume 10 Suppl 1, Issue S1, p. 12
Journal Article
Journal of the American College of Cardiology, ISSN 0735-1097, 2015, Volume 65, Issue 13, pp. 1324 - 1336
Journal Article
Nucleic Acids Research, ISSN 0305-1048, 2017, Volume 45, Issue 1, pp. D865 - d876
Journal Article
Human Mutation, ISSN 1059-7794, 09/2016, Volume 37, Issue 9, pp. 847 - 864
Journal Article
FRONTIERS IN PUBLIC HEALTH, ISSN 2296-2565, 06/2019, Volume 7
Journal Article
FRONTIERS IN GENETICS, ISSN 1664-8021, 07/2019, Volume 10, p. 611
The clinical utility of computational phenotyping for both genetic and rare diseases is increasingly appreciated; however, its true potential is yet to be... 
rare disease | MATCHMAKER EXCHANGE | RARE | RECOGNITION | GENOTYPE | FACIAL DYSMORPHOLOGY | PHENOTYPE | phenotyping | INDIVIDUALS | THERAPY | patient information | DE-NOVO MUTATIONS | GENOMES | GENETICS & HEREDITY | data protection | data sharing | Faces | Machine learning
Journal Article
NATURE GENETICS, ISSN 1061-4036, 04/2018, Volume 50, Issue 4, pp. 474 - 476
Journal Article