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by Roadmap Epigenomics Consortium, Epigenomics Consortium and Kundaje, Anshul and Meuleman, Wouter and Ernst, Jason and Bilenky, Misha and Yen, Angela and Heravi-Moussavi, Alireza and Kheradpour, Pouya and Zhang, Zhizhuo and Wang, Jianrong and Ziller, Michael J and Amin, Viren and Whitaker, John W and Schultz, Matthew D and Ward, Lucas D and Sarkar, Abhishek and Quon, Gerald and Sandstrom, Richard S and Eaton, Matthew L and Wu, Yi-Chieh and Pfenning, Andreas R and Wang, Xinchen and Claussnitzer, Melina and Liu, Yaping and Coarfa, Cristian and Harris, R. Alan and Shoresh, Noam and Epstein, Charles B and Gjoneska, Elizabeta and Leung, Danny and Xie, Wei and Hawkins, R. David and Lister, Ryan and Hong, Chibo and Gascard, Philippe and Mungall, Andrew J and Moore, Richard and Chuah, Eric and Tam, Angela and Canfield, Theresa K and Hansen, R. Scott and Kaul, Rajinder and Sabo, Peter J and Bansal, Mukul S and Carles, Annaick and Dixon, Jesse R and Farh, Kai-How and Feizi, Soheil and Karlic, Rosa and Kim, Ah-Ram and Kulkarni, Ashwinikumar and Li, Daofeng and Lowdon, Rebecca and Elliott, Ginell and Mercer, Tim R and Neph, Shane J and Onuchic, Vitor and Polak, Paz and Rajagopal, Nisha and Ray, Pradipta and Sallari, Richard C and Siebenthall, Kyle T and Sinnott-Armstrong, Nicholas A and Stevens, Michael and Thurman, Robert E and Wu, Jie and Zhang, Bo and Zhou, Xin and Beaudet, Arthur E and Boyer, Laurie A and De Jager, Philip L and Farnham, Peggy J and Fisher, Susan J and Haussler, David and Jones, Steven J. M and Li, Wei and Marra, Marco A and McManus, Michael T and Sunyaev, Shamil and Thomson, James A and Tlsty, Thea D and Tsai, Li-Huei and Wang, Wei and Waterland, Robert A and Zhang, Michael Q and Chadwick, Lisa H and Bernstein, Bradley E and Costello, Joseph F and Ecker, Joseph R and Hirst, Martin and Meissner, Alexander and Milosavljevic, Aleksandar and Ren, Bing and Stamatoyannopoulos, John A and Wang, Ting and Kellis, Manolis and Roadmap Epigenomics Consortium
Nature, ISSN 0028-0836, 02/2015, Volume 518, Issue 7539, pp. 317 - 329
Journal Article
Pediatrics, ISSN 0031-4005, 05/1993, Volume 91, Issue 5, p. 995
  Two unrelated patients, previously thought to have cerebral palsy, who were later found to have arginase deficiency are described. This suggests that the... 
Pediatrics | Cerebral palsy | Children & youth
Journal Article
by Burrage, Lindsay C and Reynolds, John J and Baratang, Nissan Vida and Phillips, John A and Phillips, Jennifer B and Wegner, Jeremy and McFarquhar, Ashley and Higgs, Martin R and Christiansen, Audrey E and Lanza, Denise G and Seavitt, John R and Jain, Mahim and Li, Xiaohui and Parry, David A and Raman, Vandana and Chitayat, David and Chinn, Ivan K and Bertuch, Alison A and Karaviti, Lefkothea and Schlesinger, Alan E and Earl, Dawn and Bamshad, Michael and Savarirayan, Ravi and Doddapaneni, Harsha and Muzny, Donna and Muzny, Donna M and Jhangiani, Shalini N and Eng, Christine M and Gibbs, Richard A and Bi, Weimin and Emrick, Lisa and Emrick, Lisa T and Rosenfeld, Jill A and Postlethwait, John H and Postlethwait, John and Westerfield, Monte and Dickinson, Mary E and Beaudet, Arthur L and Ranza, Emmanuelle and Huber, Celine and Cormier-Daire, Valérie and Shen, Wei and Mao, Rong and Heaney, Jason D and Orange, Jordan S and Adams, David R and Aday, Aaron and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Baker, Eva and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bellen, Hugo J and Bernstein, Jonathan A and Berry, Gerard T and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brokamp, Elly and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Butte, Manish J and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Colley, Heather A and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Davidson, Jean M and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Dries, Annika M and Duncan, Laura and Eckstein, David J and Enns, Gregory M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and ... and Univ Washington Ctr Mendelian and Undiagnosed Dis Network and University of Washington Center for Mendelian Genomics and Undiagnosed Diseases Network
The American Journal of Human Genetics, ISSN 0002-9297, 03/2019, Volume 104, Issue 3, pp. 422 - 438
SPONASTRIME dysplasia is an autosomal-recessive spondyloepimetaphyseal dysplasia characterized by spine (spondylar) abnormalities, midface hypoplasia with a... 
TONSL | exome sequencing | DNA replication | SPONASTRIME dysplasia | DNA repair | skeletal dysplasia | RECOMBINATION | READ ALIGNMENT | MMS22L-TONSL COMPLEX | REPLICATION | CHROMATIN | STABILITY | MUTATION | GENETICS & HEREDITY | MMS22L-NFKBIL2 COMPLEX | FRAMEWORK | PREDICTION | Physiological aspects | Dysplasia | Genetic aspects | Research | Genetic variation | Risk factors
Journal Article
Journal Article
Annals of Biomedical Engineering, ISSN 0090-6964, 2000, Volume 28, Issue 1
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2013, Volume 93, Issue 2, pp. 197 - 210
White matter hyperintensities (WMHs) of the brain are important markers of aging and small-vessel disease. WMHs are rare in healthy children and, when... 
INCIDENTAL FINDINGS | POPULATION | GENETICS & HEREDITY | DEVELOPMENTAL DELAY | MR-IMAGES | PREVALENCE | SPEECH | BRAIN | CHILDREN | Language disorders | Physiological aspects | Disease susceptibility | Genetic aspects | Research | Children | Gene expression | Diseases
Journal Article
Neuron, ISSN 0896-6273, 09/2015, Volume 87, Issue 6, pp. 1215 - 1233
Journal Article
Journal Article
by Weiner, Daniel J and Wigdor, Emilie M and Ripke, Stephan and Walters, Raymond K and Kosmicki, Jack A and Grove, Jakob and Samocha, Kaitlin E and Goldstein, Jacqueline I and Okbay, Aysu and Bybjerg-Grauholm, Jonas and Werge, Thomas and Hougaard, David M and Taylor, Jacob and Skuse, David and Devlin, Bernie and Anney, Richard and Sanders, Stephan J and Bishop, Somer and Mortensen, Preben Bo and Børglum, Anders D and Smith, George Davey and Daly, Mark J and Robinson, Elise B and Bækvad-Hansen, Marie and Dumont, Ashley and Hansen, Christine and Hansen, Thomas F and Howrigan, Daniel and Mattheisen, Manuel and Moran, Jennifer and Mors, Ole and Nordentoft, Merete and Nørgaard-Pedersen, Bent and Poterba, Timothy and Poulsen, Jesper and Stevens, Christine and Anttila, Verneri and Holmans, Peter and Huang, Hailiang and Klei, Lambertus and Lee, Phil H and Medland, Sarah E and Neale, Benjamin and Weiss, Lauren A and Zwaigenbaum, Lonnie and Yu, Timothy W and Wittemeyer, Kerstin and Willsey, A Jeremy and Wijsman, Ellen M and Wassink, Thomas H and Waltes, Regina and Walsh, Christopher A and Wallace, Simon and Vorstman, Jacob A. S and Vieland, Veronica J and Vicente, Astrid M and Van Engeland, Herman and Tsang, Kathryn and Thompson, Ann P and Szatmari, Peter and Svantesson, Oscar and Steinberg, Stacy and Stefansson, Kari and Stefansson, Hreinn and State, Matthew W and Soorya, Latha and Silagadze, Teimuraz and Scherer, Stephen W and Schellenberg, Gerard D and Sandin, Sven and Saemundsen, Evald and Rouleau, Guy A and Rogé, Bernadette and Roeder, Kathryn and Roberts, Wendy and Reichert, Jennifer and Reichenberg, Abraham and Rehnström, Karola and Regan, Regina and Poustka, Fritz and Poultney, Christopher S and Piven, Joseph and Pinto, Dalila and Pericak-Vance, Margaret A and Pejovic-Milovancevic, Milica and Pedersen, Marianne G and Pedersen, Carsten B and Paterson, Andrew D and Parr, Jeremy R and Pagnamenta, Alistair T and Oliveira, Guiomar and Nurnberger, John I and Murtha, Michael T and Mouga, Susana and Morrow, Eric M and DeLuca, Daniel Moreno and Monaco, Anthony P and Minshew, Nancy and Merikangas, Alison and McMahon, William M and ... and Psychiat Genomics Consortium and iPSYCH-Broad Autism Grp and iPSYCH-Broad Autism Group and Psychiatric Genomics Consortium Autism Group and Gillberg Neuropsychiatry Centre and Sahlgrenska akademin and Göteborgs universitet and Gothenburg University and Gillbergcentrum and Sahlgrenska Academy
Nature Genetics, ISSN 1061-4036, 07/2017, Volume 49, Issue 7, pp. 978 - 985
Journal Article