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by Fauchier, Laurent and Greenlaw, Nicola and Ferrari, Roberto and Ford, Ian and Fox, Kim M and Tardif, Jean-Claude and Tendera, Michal and Steg, Ph. Gabriel and Sokn, Fernando José and Reid, Christopher and Lang, Irene and Van den Branden, Frank and César, Luis Machado and Mattos, Marco Antonio and Nazar Luqman, Hj and Goudev, Assen and Dorian, Paul and Hu, Dayi and Widimsky, Petr and Hassager, Christian and Danchin, Nicolas and Kääb, Stefan and Vardas, Panos and Sulaiman, Kadhim J and Al Mahmeed, Wael and Al Suwaidi, Jassim and Al Rashdan, Ibrahim and Abdulkader, Fuad and Merkely, Béla and Kaul, Upendra and Daly, Kieran and Tavazzi, Luigi and Ferrari, Roberto and Jang, Yangsoo and Erglis, Andrejs and Laucevičius, Aleksandras and Jamaluddin, Ahmad Nizar and Gamba, Marco Alcocer and Tulevski, Igor I and Stępińska, Janina and Morais, Joao and Macarie, Cezar and Oganov, Rafael and Shalnova, Svetlana and Al-Zaibag, Muayed and Hou, Mak Koon and Kamensky, Gabriel and Fras, Zlatko and Kanič, Vojko and Naidoo, Datshana Prakesh and Zamorano, José Luis and Rickli, Hans and Jaussi, Andres and Sriratanasathavorn, Charn and Kalra, Paul and Lutai, Mykhailo and Oleksandr, Oleksandr and Nguyen, Lan Viet and Henry, Ronald and Ahuad Guerrero, A and Basara, M and Belcastro, F and Bertarini, J.A and Cazenave, C and Dreycopp, H and Egido, J and Estrella, J and Garofalo, D and Giordano, J and Lagioia, H and Lago, N and La Greca, R and Lema, L and Lopez Cabanillas, N and Luquez, H and Miller, C and Prada, E and Rodenas, P and Schena, R.G and Suarez, G and Tomatti, A and Colquhoun, D.M and Conradie, A and Cox, S and Cross, D and Fathi, R and Fitzgerald, B and Hamilton-Craig, I and Holt, G and Jayasinghe, S.R and Mai, N and Moolman, J and Motyer, R.A and Phillips, K and Rafter, A and Rahman, A and Rainbird, A and Scalia, G and Taylor, A and West, P and ... and CLARIFY Investigators
PLoS ONE, ISSN 1932-6203, 2015, Volume 10, Issue 4, p. e0125164
Journal Article
by Johnson, Brett V and Kumar, Raman and Oishi, Sabrina and Alexander, Suzy and Kasherman, Maria and Vega, Michelle Sanchez and Ivancevic, Atma and Gardner, Alison and Domingo, Deepti and Corbett, Mark and Parnell, Euan and Yoon, Sehyoun and Oh, Tracey and Lines, Matthew and Lefroy, Henrietta and Kini, Usha and Van Allen, Margot and Grønborg, Sabine and Mercier, Sandra and Küry, Sébastien and Bézieau, Stéphane and Pasquier, Laurent and Raynaud, Martine and Afenjar, Alexandra and Billette de Villemeur, Thierry and Keren, Boris and Désir, Julie and Van Maldergem, Lionel and Marangoni, Martina and Dikow, Nicola and Koolen, David A and VanHasselt, Peter M and Weiss, Marjan and Zwijnenburg, Petra and Sa, Joaquim and Reis, Claudia Falcao and López-Otín, Carlos and Santiago-Fernández, Olaya and Fernández-Jaén, Alberto and Rauch, Anita and Steindl, Katharina and Joset, Pascal and Goldstein, Amy and Madan-Khetarpal, Suneeta and Infante, Elena and Zackai, Elaine and Mcdougall, Carey and Narayanan, Vinodh and Ramsey, Keri and Mercimek-Andrews, Saadet and Pena, Loren and Shashi, Vandana and Pena, Loren and Shashi, Vandana and Schoch, Kelly and Sullivan, Jennifer A and Acosta, Maria T 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 Bademci, Guney and Baker, Eva and Balasubramanyam, Ashok and Baldridge, Dustin and Barbouth, Deborah and Batzli, Gabriel F and Beggs, Alan H and Bellen, Hugo J and Bernstein, Jonathan A and Berry, Gerard T and Bican, Anna and Bick, David P and Birch, Camille L and Bivona, Stephanie and Bonnenmann, Carsten 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 Carrasquillo, Olveen and Peter Chang, Ta Chen and Chao, Hsiao-Tuan and Clark, Gary D and Coakley, Terra R and Cobban, Laurel A and Cogan, Joy D and Cole, F. Sessions and Colley, Heather A and Cooper, Cynthia M and Cope, Heidi and ... and Undiagnosed Diseases Network and Undiagnosed Dis Network
Biological Psychiatry, ISSN 0006-3223, 01/2020, Volume 87, Issue 2, pp. 100 - 112
The X-chromosome gene USP9X encodes a deubiquitylating enzyme that has been associated with neurodevelopmental disorders primarily in female subjects. USP9X... 
Brain malformation | TGFβ | Neurodevelopmental disorder | USP9X | Hippocampus | Deubiquitylating enzyme | DEUBIQUITINATING ENZYME | PHENOTYPE | OF-FUNCTION MUTATIONS | NEUROSCIENCES | LIQUID FACETS | INTELLECTUAL DISABILITY | IN-VITRO | CELL-MIGRATION | INTERACTS | TGF beta | FAM/USP9X
Journal Article
2012, ISBN 9780271056302, xxiv, 586
Book
by Shashi, Vandana and Schoch, Kelly and Spillmann, Rebecca and Cope, Heidi and Tan, Queenie K.-G and Walley, Nicole and Pena, Loren and McConkie-Rosell, Allyn and Jiang, Yong-Hui and Stong, Nicholas and Need, Anna C and Goldstein, David B and Adams, David R and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A 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 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 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 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 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 Fisher, Paul G and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A 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 Handley, Lori H and Herzog, Matthew R and Holm, Ingrid A and Hom, Jason and Howerton, Ellen M and Huang, Yong and Jacob, Howard J and Jain, Mahim and Jiang, Yong-hui and Johnston, Jean M and Jones, Angela L and Koeller, David M and Kohane, Isaac S and Kohler, Jennefer N and Krasnewich, Donna M and Krieg, Elizabeth L and Krier, Joel B and Kyle, Jennifer E and Lalani, Seema R and Lau, C. Christopher and ... and Undiagnosed Dis Network and Undiagnosed Diseases Network
Genetics in Medicine, ISSN 1098-3600, 01/2019, Volume 21, Issue 1, pp. 161 - 172
Purpose: Sixty to seventy-five percent of individuals with rare and undiagnosed phenotypes remain undiagnosed after exome sequencing (ES). With standard ES... 
Rare diseases | Genome sequencing | Undiagnosed diseases | Exome sequencing | Phenotyping | REANALYSIS | VARIANTS | GENETICS & HEREDITY | MEDICAL GENETICS | WHOLE GENOME | Bioinformatics | whole genome sequencing | rare diseases | undiagnosed diseases | Whole exome sequencing | phenotyping
Journal Article