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by Kanca, Oguz and Andrews, Jonathan C and Andrews, Ashley and Lee, Brendan H and Lee, Pei-Tseng and Lee, Hane and Patel, Chirag and Braddock, Stephen R and Slavotinek, Anne M and Cohen, Julie S and Gubbels, Cynthia S and Aldinger, Kimberly A and Williams, Judy and Indaram, Maanasa and Fatemi, Ali and Yu, Timothy W and Yu, Guoyun and Agrawal, Pankaj B and Agrawal, Pankaj and Vezina, Gilbert and Simons, Cas and Crawford, Joanna and Lau, C. Christopher and Acosta, Maria T and Adams, David R and Alejandro, Mercedes E and Allard, Patrick and Alvey, Justin 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 Bale, Jim and Barbouth, Deborah and Batzli, Gabriel F and Bayrak-Toydemir, Pinar and Beggs, Alan H and Bejerano, Gill 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 Bohnsack, John and Bonnenmann, Carsten and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Botto, Lorenzo 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 Carey, John and Carrasquillo, Olveen and Chang, Ta Chen Peter 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 Craigen, William J and D'Souza, Precilla and Dasari, Surendra and Davids, Mariska and Dayal, Jyoti G and Dell'Angelica, Esteban C and Dhar, Shweta U and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Duncan, Laura and Eckstein, David J and Emrick, Lisa T and Eng, Christine M 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 Forghani, Irman and Fresard, Laure and Gahl, William A and Godfrey, Rena A and Goldman, Alica M and ... and Undiagnosed Dis Network and Undiagnosed Diseases Network
The American Journal of Human Genetics, ISSN 0002-9297, 08/2019, Volume 105, Issue 2, pp. 413 - 424
WD40 repeat-containing proteins form a large family of proteins present in all eukaryotes. Here, we identified five pediatric probands with variants in which... 
bang sensitivity | WDR37 domains | WD40 repeats | wdr37 | CG12333 | Drosophila | INTEGRATION | GENETICS | UNDIAGNOSED DISEASES | SEQUENCE | GENETICS & HEREDITY | SEIZURE-SUSCEPTIBILITY | EXPRESSION | DROSOPHILA | PROGRAM | Genetic variation | Epilepsy | Physiological aspects | Child development deviations | Genetic aspects | Research | Risk factors | Developmental disabilities
Journal Article
by Accogli, Andrea and Calabretta, Sara and St-Onge, Judith and Boudrahem-Addour, Nassima and Dionne-Laporte, Alexandre and Joset, Pascal and Azzarello-Burri, Silvia and Rauch, Anita and Krier, Joel and Krier, Joel B and Fieg, Elizabeth and Fieg, Elizabeth L and Pallais, Juan C and Pallais, J. Carl and Acosta, Maria T and Adams, David R and Agrawal, Pankaj and Alejandro, Mercedes E and Allard, Patrick and Alvey, Justin and Andrews, Ashley 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 Bale, Jim and Barbouth, Deborah and Batzli, Gabriel F and Bayrak-Toydemir, Pinar and Beggs, Alan H and Bejerano, Gill 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 Bohnsack, John and Bonnenmann, Carsten and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Botto, Lorenzo 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 Carey, John and Carrasquillo, Olveen and Chang, Ta Chen Peter 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 Craigen, William J and D’Souza, Precilla and Dasari, Surendra and Davids, Mariska and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Duncan, Laura and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Esteves, Cecilia and Estwick, Tyra and Fernandez, Liliana and Ferreira, Carlos and Fisher, Paul G and Fogel, Brent L and Forghani, Irman and Fresard, Laure and Gahl, William A and Godfrey, Rena A and Goldman, Alica M and Goldstein, David B and Gourdine, Jean-Philippe F and Grajewski, Alana and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and ...
The American Journal of Human Genetics, ISSN 0002-9297, 10/2019, Volume 105, Issue 4, pp. 854 - 868
Cadherins constitute a family of transmembrane proteins that mediate calcium-dependent cell-cell adhesion. The extracellular domain of cadherins consists of... 
cell-cell adhesion | CDH2 | ACOG | N-cadherin | eye defects | genital defects | cardiac defects | corpus callosum | intellectual disability | Care and treatment | Cell adhesion | Nervous system | Degeneration | Genetic aspects | Research | Risk factors | Membrane proteins
Journal Article
by Klionsky, Daniel J and Abdelmohsen, Kotb and Abe, Akihisa and Abedin, Md Joynal and Abeliovich, Hagai and Acevedo Arozena, Abraham and Adachi, Hiroaki and Adams, Christopher M and Adams, Peter D and Adeli, Khosrow and Adhihetty, Peter J and Adler, Sharon G and Agam, Galila and Agarwal, Rajesh and Aghi, Manish K and Agnello, Maria and Agostinis, Patrizia and Aguilar, Patricia V and Aguirre-Ghiso, Julio and Airoldi, Edoardo M and Ait-Si-Ali, Slimane and Akematsu, Takahiko and Akporiaye, Emmanuel T and Al-Rubeai, Mohamed and Albaiceta, Guillermo M and Albanese, Chris and Albani, Diego and Albert, Matthew L and Aldudo, Jesus and Algül, Hana and Alirezaei, Mehrdad and Alloza, Iraide and Almasan, Alexandru and Almonte-Beceril, Maylin and Alnemri, Emad S and Alonso, Covadonga and Altan-Bonnet, Nihal and Altieri, Dario C and Alvarez, Silvia and Alvarez-Erviti, Lydia and Alves, Sandro and Amadoro, Giuseppina and Amano, Atsuo and Amantini, Consuelo and Ambrosio, Santiago and Amelio, Ivano and Amer, Amal O and Amessou, Mohamed and Amon, Angelika and An, Zhenyi and Anania, Frank A and Andersen, Stig U and Andley, Usha P and Andreadi, Catherine K and Andrieu-Abadie, Nathalie and Anel, Alberto and Ann, David K and Anoopkumar-Dukie, Shailendra and Antonioli, Manuela and Aoki, Hiroshi and Apostolova, Nadezda and Aquila, Saveria and Aquilano, Katia and Araki, Koichi and Arama, Eli and Aranda, Agustin and Araya, Jun and Arcaro, Alexandre and Arias, Esperanza and Arimoto, Hirokazu and Ariosa, Aileen R and Armstrong, Jane L and Arnould, Thierry and Arsov, Ivica and Asanuma, Katsuhiko and Askanas, Valerie and Asselin, Eric and Atarashi, Ryuichiro and Atherton, Sally S and Atkin, Julie D and Attardi, Laura D and Auberger, Patrick and Auburger, Georg and Aurelian, Laure and Autelli, Riccardo and Avagliano, Laura and Avantaggiati, Maria Laura and Avrahami, Limor and Awale, Suresh and Azad, Neelam and Bachetti, Tiziana and Backer, Jonathan M and Bae, Dong-Hun and Bae, Jae-sung and Bae, Ok-Nam and Bae, Soo Han and Baehrecke, Eric H and Baek, Seung-Hoon and Baghdiguian, Stephen and Bagniewska-Zadworna, Agnieszka and ... and Medicinska fakulteten and Region Östergötland and Linköpings universitet and Institutionen för klinisk och experimentell medicin and Diagnostikcentrum and Klinisk patologi och klinisk genetik and Institutionen för medicin och hälsa and Avdelningen för läkemedelsforskning and Avdelningen för cellbiologi
Autophagy, ISSN 1554-8627, 01/2016, Volume 12, Issue 1, pp. 1 - 222
Journal Article