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by Hibar, Derrek and Stein, J.L and Rentería, Miguel and Arias-Vásquez, Alejano and Desrivières, Sylvane and Jahanshad, Neda and Toro, Roberto and Wittfeld, Katharina and Abramovic, Lucija and Andersson, Micael and Aribisala, Benjamin and Armstrong, Nicola J and Bernard, Manon and Bohlken, Marc M and Boks, Marco and Bralten, Linda and Brown, Anew and Chakravarty, M. Mallar and Chen, Qiang and Ching, Christopher and Cuellar-Partida, Gabriel and Braber, Anouk and Giddaluru, Sudheer and Goldman, Aaron L and Grimm, Oliver and Guadalupe, Tulio and Hass, Johanna and Woldehawariat, Girma and Holmes, Avram and Hoogman, Martine and Janowitz, Deborah and Jia, Tianye and Kim, Shinseog and Klein, Marieke and Kraemer, Bernd and Lee, Phil H and Olde Loohuis, Loes M and Luciano, Michelle and MacAre, Christine and Mather, R and Mattheisen, Manuel and Milaneschi, Yuri and Nho, Kwangsik and Papmeyer, Martina and Ramasamy, Adaikalavan and Risacher, Shannon and Roiz-Santiañez, Roberto and Rose, Emma and Salami, Alireza and Sämann, Philipp and Schmaal, Lianne and Schork, Nicholas and Shin, Jean and Strike, Vanessa and Teumer, Alexander and Van Donkelaar, Marjolein M. J and Eijk, Kristel and Walters, Raymond and Westlye, Lars and Whelan, Christopher and Winkler, Anderson and Zwiers, Marcel and Alhusaini, Saud and Athanasiu, Lavinia and Ehrlich, Stefan and Hakobjan, Marina and Hartberg, Cecilie B and Haukvik, Unn and Heister, Angelien J. G. A. M and Hoehn, David and Kasperaviciute, Dalia and Liewald, David C and Lopez, Lorna and Makkinje, Remco R. R and Matarin, Mar and Naber, Marlies A. M and Reese McKay, D and Needham, Margaret and Nugent, Allison and Pütz, Benno and Royle, Natalie and Shen, Li and Sprooten, Roy and Trabzuni, Danyah and Van Der Marel, Saskia S. L and Van Hulzen, Kimm J. E and Walton, Esther and Björnsson, Asgeir and Almasy, Laura and Ames, David and Arepalli, Sampath and Assareh, A.A and Bastin, Mark and Brodaty, Henry and Bulayeva, Kazima and Carless, Melanie and Cichon, Sven and Corvin, Aiden and Curran, Joanne and Czisch, Michael and ... and EPIGEN and SYS and Alzheimers Dis Neuroimaging and CHARGE Consortium and IMAGEN and Alzheimer’s Disease Neuroimaging Initiative and The Alzheimer’s Disease Neuroimaging Initiative and The CHARGE Consortium and Stockholms universitet and Centrum för forskning om äldre och åldrande (ARC), (tills m KI) and Samhällsvetenskapliga fakulteten
Nature: international weekly journal of science, ISSN 0028-0836, 04/2015, Volume 520, Issue 7546, pp. 224 - 229
Journal Article
Nature, ISSN 0028-0836, 2014, Volume 505, Issue 7483, pp. 361 - 366
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2015, Volume 96, Issue 2, pp. 266 - 274
Singleton-Merten syndrome (SMS) is an autosomal-dominant multi-system disorder characterized by dental dysplasia, aortic calcification, skeletal abnormalities,... 
OPEN-ANGLE GLAUCOMA | ACTIVATION | RNA | GENE | GENETICS & HEREDITY | CALCIFICATION | SENSOR | SPECTRUM | IDENTIFICATION | GAIN | MDA5 | Odontodysplasia - pathology | Humans | Vascular Calcification - genetics | Child, Preschool | Molecular Sequence Data | Male | Metacarpus - abnormalities | Mutation, Missense - genetics | Base Sequence | Adult | Female | Osteoporosis - genetics | Odontodysplasia - diagnostic imaging | DEAD-box RNA Helicases - chemistry | Aortic Diseases - pathology | DEAD Box Protein 58 | Musculoskeletal Abnormalities - diagnostic imaging | Cells, Cultured | Models, Molecular | Muscular Diseases - pathology | Vascular Calcification - pathology | Sequence Analysis, DNA | Radiography | DEAD-box RNA Helicases - genetics | Aortic Diseases - genetics | Exome - genetics | Osteoporosis - pathology | Pedigree | Musculoskeletal Abnormalities - genetics | Metacarpus - pathology | Polymorphism, Single Nucleotide - genetics | Odontodysplasia - genetics | Muscular Diseases - genetics | Dental Enamel Hypoplasia - pathology | Glaucoma - genetics | Dental Enamel Hypoplasia - genetics | Genes, Dominant - genetics | Physiological aspects | Genetic research | Genetic disorders | Research | Gene mutations | Glaucoma | Psoriasis | RNA-protein interactions | ABC transporters | Mutation | Gene expression | Index Medicus | Report
Journal Article
PLoS One, ISSN 1932-6203, 2012, Volume 7, Issue 5, pp. e37933 - e37933
Journal Article
Gene analysis techniques, ISSN 0735-0651, 1984
Journal
American Journal of Neuroradiology, ISSN 0195-6108, 08/2012, Volume 33, Issue 7, pp. 1349 - 1355
Journal Article
by Braun, Daniela A and Rao, Jia and Mollet, Geraldine and Schapiro, David and Daugeron, Marie-Claire and Tan, Weizhen and Gribouval, Olivier and Boyer, Olivia and Revy, Patrick and Jobst-Schwan, Tilman and Schmidt, Johanna Magdalena and Lawson, Jennifer A and Schanze, Denny and Ashraf, Shazia and Ullmann, Jeremy F P and Hoogstraten, Charlotte A and Boddaert, Nathalie and Collinet, Bruno and Martin, Gaëlle and Liger, Dominique and Lovric, Svjetlana and Furlano, Monica and Guerrera, I Chiara and Sanchez-Ferras, Oraly and Hu, Jennifer F and Boschat, Anne-Claire and Sanquer, Sylvia and Menten, Björn and Vergult, Sarah and De Rocker, Nina and Airik, Merlin and Hermle, Tobias and Shril, Shirlee and Widmeier, Eugen and Gee, Heon Yung and Choi, Won-Il and Sadowski, Carolin E and Pabst, Werner L and Warejko, Jillian K and Daga, Ankana and Basta, Tamara and Matejas, Verena and Scharmann, Karin and Kienast, Sana D and Behnam, Babak and Beeson, Brendan and Begtrup, Amber and Bruce, Malcolm and Ch'ng, Gaik-Siew and Lin, Shuan-Pei and Chang, Jui-Hsing and Chen, Chao-Huei and Cho, Megan T and Gaffney, Patrick M and Gipson, Patrick E and Hsu, Chyong-Hsin and Kari, Jameela A and Ke, Yu-Yuan and Kiraly-Borri, Cathy and Lai, Wai-Ming and Lemyre, Emmanuelle and Littlejohn, Rebecca Okashah and Masri, Amira and Moghtaderi, Mastaneh and Nakamura, Kazuyuki and Ozaltin, Fatih and Praet, Marleen and Prasad, Chitra and Prytula, Agnieszka and Roeder, Elizabeth R and Rump, Patrick and Schnur, Rhonda E and Shiihara, Takashi and Sinha, Manish D and Soliman, Neveen A and Soulami, Kenza and Sweetser, David A and Tsai, Wen-Hui and Tsai, Jeng-Daw and Topaloglu, Rezan and Vester, Udo and Viskochil, David H and Vatanavicharn, Nithiwat and Waxler, Jessica L and Wierenga, Klaas J and Wolf, Matthias T F and Wong, Sik-Nin and Leidel, Sebastian A and Truglio, Gessica and Dedon, Peter C and Poduri, Annapurna and Mane, Shrikant and Lifton, Richard P and Bouchard, Maxime and Kannu, Peter and Chitayat, David and Magen, Daniella and Callewaert, Bert and van Tilbeurgh, Herman and Zenker, Martin and ...
Nature Genetics, ISSN 1061-4036, 2017, Volume 49, Issue 10, pp. 1529 - 1529
Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly... 
YEAST | UNFOLDED PROTEIN RESPONSE | TRANSFER-RNA MODIFICATION | DNA | KINASE | GENETICS & HEREDITY | SECKEL-SYNDROME | GENOME MAINTENANCE | WDR73 | GALLOWAY-MOWAT SYNDROME | MASS-SPECTROMETRY | Metalloendopeptidases - genetics | Protein-Serine-Threonine Kinases - deficiency | Microcephaly - genetics | Humans | Metalloendopeptidases - deficiency | Apoptosis - genetics | Multiprotein Complexes - genetics | Nephrotic Syndrome - genetics | DNA Repair - genetics | Telomere Homeostasis - genetics | Endoplasmic Reticulum Stress - genetics | Intracellular Signaling Peptides and Proteins - deficiency | Hernia, Hiatal - genetics | Intracellular Signaling Peptides and Proteins - genetics | Podocytes - metabolism | RNA, Transfer - metabolism | Protein-Serine-Threonine Kinases - genetics | Models, Molecular | Nephrotic Syndrome - pathology | Zebrafish | Cytoskeleton - ultrastructure | Nephrosis - genetics | Gene Knockout Techniques | Carrier Proteins - genetics | Podocytes - ultrastructure | Zebrafish Proteins - deficiency | Animals | RNA Processing, Post-Transcriptional - genetics | CRISPR-Cas Systems | Protein Conformation | Mice | Mutation | Zebrafish Proteins - genetics | Cell Movement | Genetic disorders | Gene mutations | Development and progression | Nephrotic syndrome | Genetic aspects | Microcephaly | Health aspects | Cell proliferation | Brain | CRISPR | Genes | DNA damage | Genomes | Lethality | Kinases | Proteins | Genotype & phenotype | Microencephaly | Actin | Biopsy | Cytoskeleton | Scientific imaging | Endoplasmic reticulum | Mass spectrometry | Deoxyribonucleic acid--DNA | Apoptosis | Index Medicus | Life Sciences
Journal Article