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2018, Advances in Mathematics Education, ISBN 3319923897, 681
This volume brings together recent research and commentary in secondary school mathematics from a breadth of contemporary Canadian and International... 
Mathematics | Mathematics Education | Learning & Instruction | Teaching and Teacher Education | Education
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
by Frésard, Laure and Smail, Craig and Ferraro, Nicole M and Teran, Nicole A and Li, Xin and Smith, Kevin S and Bonner, Devon and Kernohan, Kristin D and Marwaha, Shruti and Zappala, Zachary and Balliu, Brunilda and Davis, Joe R and Liu, Boxiang and Prybol, Cameron J and Kohler, Jennefer N and Zastrow, Diane B and Reuter, Chloe M and Fisk, Dianna G and Grove, Megan E and Davidson, Jean M and Hartley, Taila and Joshi, Ruchi and Strober, Benjamin J and Utiramerur, Sowmithri 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 Burrage, Lindsay C 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 Emrick, Lisa T and Eng, Christine M and Enns, Gregory M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Fernandez, Liliana and Ferreira, Carlos and Fieg, Elizabeth L and Fisher, Paul G and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldman, Alica M and Goldstein, David B and Gould, Sarah E and Gourdine, Jean-Philippe F and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and ... and Care4Rare Canada Consortium and Undiagnosed Diseases Network and Medicinska fakulteten and Klinisk epidemiologi and Medicinska och farmaceutiska vetenskapsområdet and Uppsala universitet and Institutionen för medicinska vetenskaper
Nature Medicine, ISSN 1078-8956, 06/2019, Volume 25, Issue 6, pp. 911 - 919
Journal Article
by Pena, Loren D.M and Jiang, Yong-Hui and Schoch, Kelly and Spillmann, Rebecca C and Walley, Nicole and Stong, Nicholas and Horn, Sarah Rapisardo and Sullivan, Jennifer A and McConkie-Rosell, Allyn and Kansagra, Sujay and Smith, Edward C and El-Dairi, Mays and Bellet, Jane and Keels, Martha Ann and Jasien, Joan and Kranz, Peter G and Noel, Richard and Nagaraj, Shashi K and Lark, Robert K and Wechsler, Daniel S.G and Del Gaudio, Daniela and Leung, Marco L and Hendon, Laura G and Parker, Collette C and Jones, Kelly L and Goldstein, David B and Shashi, Vandana and Alejandro, Mercedes E and Bacino, Carlos A and Balasubramanyam, Ashok and Bostwick, Bret L and Burrage, Lindsay C and Chen, Shan and Clark, Gary D and Craigen, William J and Dhar, Shweta U and Emrick, Lisa T and Graham, Brett H and Hanchard, Neil A and Jain, Mahim and Lalani, Seema R and Lee, Brendan H and Lewis, Richard A and Azamian, Mashid S and Moretti, Paolo M and Nicholas, Sarah K and Orange, Jordan S and Posey, Jennifer E and Potocki, Lorraine and Rosenfeld, Jill A and Samson, Susan L and Scott, Daryl A and Tran, Alyssa A and Vogel, Tiphanie P and Zhang, Jing and Bellen, Hugo J and Wangler, Michael F and Yamamoto, Shinya and Eng, Christine M and Muzny, Donna M and Ward, Patricia A and Yang, Yaping and Pena, Loren D.M and Walley, Nicole M and Beggs, Alan H and Briere, Lauren C and Cooper, Cynthia M and Donnell-Fink, Laurel A and Krieg, Elizabeth L and Krier, Joel B and Lincoln, Sharyn A and Loscalzo, Joseph and Maas, Richard L and MacRae, Calum A and Pallais, J. Carl and Rodan, Lance H and Silverman, Edwin K and Stoler, Joan M and Sweetser, David A and Walsh, Chris A and Esteves, Cecilia and Holm, Ingrid A and Kohane, Isaac S and Mazur, Paul and McCray, Alexa T and Might, Matthew and Ramoni, Rachel B and Splinter, Kimberly and Bick, David P and Birch, Camille L and Boone, Braden E and Brown, Donna M and Dorset, Daniel C and Handley, Lori H and Jacob, Howard J and Jones, Angela L and Lazar, Jozef and Levy, Shawn E and Newberry, J. Scott and Schroeder, Molly C and ... and Undiagnosed Dis Network Members and Undiagnosed Diseases Network Members
Genetics in Medicine, ISSN 1098-3600, 04/2018, Volume 20, Issue 4, pp. 464 - 469
Purpose: To describe examples of missed pathogenic variants on whole-exome sequencing (WES) and the importance of deep phenotyping for further diagnostic... 
infantile neuroaxonal dystrophy | infantile systemic hyalinosis | leukoencephalopathy with vanishing white matter | Undiagnosed Diseases Network | whole-exome sequencing | LEUKOENCEPHALOPATHY | REANALYSIS | GENE | GENETICS & HEREDITY | MUTATIONS | SPECTRUM | EIF2B5 | undiagnosed diseases network | ANTXR2 | PLA2G6 | whole exome sequencing
Journal Article