Authors: Zastrow, Diane B, Kohler, Jennefer N, Bonner, Devon, Reuter, Chloe M, Fernandez, Liliana, Grove, Megan E, Fisk, Dianna G, Network, Undiagnosed Diseases, Yang, Yaping, Eng, Christine M, Ward, Patricia A, Bick, David, Worthey, Elizabeth A, Fisher, Paul G, Ashley, Euan A, Bernstein, Jonathan A, Wheeler, Matthew T

Superior Title: Journal of Genetic Counseling, vol 28, iss 2

Subject Terms: Biomedical and Clinical Sciences, Clinical Sciences, Genetics, Human Genome, Clinical Research, Genetic Testing, Detection, screening and diagnosis, 4.1 Discovery and preclinical testing of markers and technologies, Exome, Female, Follow-Up Studies, Humans, Male, Phenotype, Rare Diseases, Sequence Analysis, DNA, Undiagnosed Diseases, Exome Sequencing, genome sequencing, sequencing reanalysis, Undiagnosed Diseases Network, Genetics & Heredity

Subject Geographic: 213 - 228

File Description: application/pdf

Relation: qt2t31c8gz; https://escholarship.org/uc/item/2t31c8gz

Availability: https://escholarship.org/uc/item/2t31c8gz

Authors: Jordan, Valerie K, Fregeau, Brieana, Ge, Xiaoyan, Giordano, Jessica, Wapner, Ronald J, Balci, Tugce B, Carter, Melissa T, Bernat, John A, Moccia, Amanda N, Srivastava, Anshika, Martin, Donna M, Bielas, Stephanie L, Pappas, John, Svoboda, Melissa D, Rio, Marlène, Boddaert, Nathalie, Cantagrel, Vincent, Lewis, Andrea M, Scaglia, Fernando, Network, Undiagnosed Diseases, Kohler, Jennefer N, Bernstein, Jonathan A, Dries, Annika M, Rosenfeld, Jill A, DeFilippo, Colette, Thorson, Willa, Yang, Yaping, Sherr, Elliott H, Bi, Weimin, Scott, Daryl A

Superior Title: Human Mutation, vol 39, iss 5

Subject Terms: Congenital Structural Anomalies, Genetics, Genetic Testing, Rare Diseases, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Carrier Proteins, Child, Preschool, Fatal Outcome, Female, Genetic Association Studies, Humans, Infant, Male, Mutation, Young Adult, 1p36 deletion syndrome, CHARGE syndrome, CHD7, genotype-phenotype correlations, NEDBEH, RERE, Undiagnosed Diseases Network, Clinical Sciences, Genetics & Heredity

Subject Geographic: 666 - 675

File Description: application/pdf

Relation: qt57z6f57h; https://escholarship.org/uc/item/57z6f57h

Availability: https://escholarship.org/uc/item/57z6f57h

Authors: Küry, Sébastien, van Woerden, Geeske M, Besnard, Thomas, Onori, Martina Proietti, Latypova, Xénia, Towne, Meghan C, Cho, Megan T, Prescott, Trine E, Ploeg, Melissa A, Sanders, Stephan, Stessman, Holly AF, Pujol, Aurora, Distel, Ben, Robak, Laurie A, Bernstein, Jonathan A, Denommé-Pichon, Anne-Sophie, Lesca, Gaëtan, Sellars, Elizabeth A, Berg, Jonathan, Carré, Wilfrid, Busk, Øyvind Løvold, van Bon, Bregje WM, Waugh, Jeff L, Deardorff, Matthew, Hoganson, George E, Bosanko, Katherine B, Johnson, Diana S, Dabir, Tabib, Holla, Øystein Lunde, Sarkar, Ajoy, Tveten, Kristian, de Bellescize, Julitta, Braathen, Geir J, Terhal, Paulien A, Grange, Dorothy K, van Haeringen, Arie, Lam, Christina, Mirzaa, Ghayda, Burton, Jennifer, Bhoj, Elizabeth J, Douglas, Jessica, Santani, Avni B, Nesbitt, Addie I, Helbig, Katherine L, Andrews, Marisa V, Begtrup, Amber, Tang, Sha, van Gassen, Koen LI, Juusola, Jane, Foss, Kimberly, Enns, Gregory M, Moog, Ute, Hinderhofer, Katrin, Paramasivam, Nagarajan, Lincoln, Sharyn, Kusako, Brandon H, Lindenbaum, Pierre, Charpentier, Eric, Nowak, Catherine B, Cherot, Elouan, Simonet, Thomas, Ruivenkamp, Claudia AL, Hahn, Sihoun, Brownstein, Catherine A, Xia, Fan, Schmitt, Sébastien, Deb, Wallid, Bonneau, Dominique, Nizon, Mathilde, Quinquis, Delphine, Chelly, Jamel, Rudolf, Gabrielle, Sanlaville, Damien, Parent, Philippe, Gilbert-Dussardier, Brigitte, Toutain, Annick, Sutton, Vernon R, Thies, Jenny, Peart-Vissers, Lisenka ELM, Boisseau, Pierre, Vincent, Marie, Grabrucker, Andreas M, Dubourg, Christèle, Network, Undiagnosed Diseases, Tan, Wen-Hann, Verbeek, Nienke E, Granzow, Martin, Santen, Gijs WE, Shendure, Jay, Isidor, Bertrand, Pasquier, Laurent, Redon, Richard, Yang, Yaping, State, Matthew W, Kleefstra, Tjitske, Cogné, Benjamin, HUGO, GEM, Study, Deciphering Developmental Disorders, Petrovski, Slavé, Retterer, Kyle

Superior Title: American Journal of Human Genetics, vol 101, iss 5

Subject Terms: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Neurosciences, Brain Disorders, Genetics, Intellectual and Developmental Disabilities (IDD), Pediatric, Underpinning research, 1.1 Normal biological development and functioning, Aetiology, 2.1 Biological and endogenous factors, Neurological, Animals, Brain, Calcium-Calmodulin-Dependent Protein Kinase Type 2, Cell Line, Exome, Female, Glutamic Acid, HEK293 Cells, Humans, Intellectual Disability, Male, Mice, Inbred C57BL, Mutation, Neurons, Phosphorylation, Signal Transduction

Subject Geographic: 768 - 788

File Description: application/pdf

Relation: qt9gc6k2mk; https://escholarship.org/uc/item/9gc6k2mk

Availability: https://escholarship.org/uc/item/9gc6k2mk

Authors: Küry, Sébastien, Besnard, Thomas, Ebstein, Frédéric, Khan, Tahir N, Gambin, Tomasz, Douglas, Jessica, Bacino, Carlos A, Craigen, William J, Sanders, Stephan J, Lehmann, Andrea, Latypova, Xénia, Khan, Kamal, Pacault, Mathilde, Sacharow, Stephanie, Glaser, Kimberly, Bieth, Eric, Perrin-Sabourin, Laurence, Jacquemont, Marie-Line, Cho, Megan T, Roeder, Elizabeth, Denommé-Pichon, Anne-Sophie, Monaghan, Kristin G, Yuan, Bo, Xia, Fan, Simon, Sylvain, Bonneau, Dominique, Parent, Philippe, Gilbert-Dussardier, Brigitte, Odent, Sylvie, Toutain, Annick, Pasquier, Laurent, Barbouth, Deborah, Shaw, Chad A, Patel, Ankita, Smith, Janice L, Bi, Weimin, Schmitt, Sébastien, Deb, Wallid, Nizon, Mathilde, Mercier, Sandra, Vincent, Marie, Rooryck, Caroline, Malan, Valérie, Briceño, Ignacio, Gómez, Alberto, Nugent, Kimberly M, Gibson, James B, Cogné, Benjamin, Lupski, James R, Stessman, Holly AF, Eichler, Evan E, Retterer, Kyle, Yang, Yaping, Redon, Richard, Katsanis, Nicholas, Rosenfeld, Jill A, Kloetzel, Peter-Michael, Golzio, Christelle, Bézieau, Stéphane, Stankiewicz, Paweł, Isidor, Bertrand

Superior Title: American Journal of Human Genetics, vol 100, iss 2

Subject Terms: Biochemistry and Cell Biology, Bioinformatics and Computational Biology, Biological Sciences, Neurosciences, Congenital Structural Anomalies, Dental/Oral and Craniofacial Disease, Biotechnology, Genetics, Intellectual and Developmental Disabilities (IDD), Human Genome, Pediatric, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Adolescent, Animals, Child, Preschool, DNA Copy Number Variations, Disease Models, Animal, Down-Regulation, Female, Gene Deletion, Humans, Infant, Intellectual Disability, Male, Microcephaly, Neurodevelopmental Disorders

Subject Geographic: 352 - 363

File Description: application/pdf

Relation: qt4s2493nh; https://escholarship.org/uc/item/4s2493nh

Availability: https://escholarship.org/uc/item/4s2493nh

Authors: Schoch, Kelly, Meng, Linyan, Szelinger, Szabolcs, Bearden, David R, Stray-Pedersen, Asbjorg, Busk, Oyvind L, Stong, Nicholas, Liston, Eriskay, Cohn, Ronald D, Scaglia, Fernando, Rosenfeld, Jill A, Tarpinian, Jennifer, Skraban, Cara M, Deardorff, Matthew A, Friedman, Jeremy N, Akdemir, Zeynep Coban, Walley, Nicole, Mikati, Mohamad A, Kranz, Peter G, Jasien, Joan, McConkie-Rosell, Allyn, McDonald, Marie, Wechsler, Stephanie Burns, Freemark, Michael, Kansagra, Sujay, Freedman, Sharon, Bali, Deeksha, Millan, Francisca, Bale, Sherri, Nelson, Stanley F, Lee, Hane, Dorrani, Naghmeh, Goldstein, David B, Xiao, Rui, Yang, Yaping, Posey, Jennifer E, Martinez-Agosto, Julian A, Lupski, James R, Wangler, Michael F, Shashi, Vandana, Grody, Wayne W, Strom, Samuel P, Vilain, Eric, Deignan, Joshua, Quintero-Rivera, Fabiola, Kantarci, Sibel, Mullegama, Sureni, Kang, Sung-Hae, Alejandro, Mercedes E, Bacino, Carlos A, Balasubramanyam, Ashok, Burrage, Lindsay C, Clark, Gary D, Craigen, William J, Dhar, Shweta U, Emrick, Lisa T, Graham, Brett H, Hanchard, Neil A, Jain, Mahim, Lalani, Seema R, Lee, Brendan H, Lewis, Richard A, Mashid, Azamian S, Moretti, Paolo M, Nicholas, Sarah K, Orange, Jordan S, Potocki, Lorraine, Scott, Daryl A, Tran, Alyssa A, Bellen, Hugo J, Yamamoto, Shinya, Eng, Christine M, Muzny, Donna M, Ward, Patricia A, Gropman, Andrea L, Jiang, Yong-hui, Pena, Loren DM, Spillmann, Rebecca C, Sullivan, Jennifer A, Walley, Nicole M, Beggs, Alan H, Briere, Lauren C, Cooper, Cynthia M, Donnell-Fink, Laurel A, Krieg, Elizabeth L, Krier, Joel B, Lincoln, Sharyn A

Superior Title: American Journal of Human Genetics, vol 100, iss 2

Subject Terms: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Neurosciences, Pediatric, Brain Disorders, Neurodegenerative, Epilepsy, Intellectual and Developmental Disabilities (IDD), Human Genome, 2.1 Biological and endogenous factors, Aetiology, Neurological, Alleles, Amino Acid Sequence, Brain, Cataract, Child, Preschool, Female, Genetic Variation, Genome-Wide Association Study, Humans, Infant, Intellectual Disability, Magnetic Resonance Imaging, Male, Microcephaly, Mutation, Missense

Subject Geographic: 343 - 351

File Description: application/pdf

Relation: qt7290n3b3; https://escholarship.org/uc/item/7290n3b3

Availability: https://escholarship.org/uc/item/7290n3b3

Authors: Stray-Pedersen, Asbjørg, Sorte, Hanne Sørmo, Samarakoon, Pubudu, Gambin, Tomasz, Chinn, Ivan K, Akdemir, Zeynep H Coban, Erichsen, Hans Christian, Forbes, Lisa R, Gu, Shen, Yuan, Bo, Jhangiani, Shalini N, Muzny, Donna M, Rødningen, Olaug Kristin, Sheng, Ying, Nicholas, Sarah K, Noroski, Lenora M, Seeborg, Filiz O, Davis, Carla M, Canter, Debra L, Mace, Emily M, Vece, Timothy J, Allen, Carl E, Abhyankar, Harshal A, Boone, Philip M, Beck, Christine R, Wiszniewski, Wojciech, Fevang, Børre, Aukrust, Pål, Tjønnfjord, Geir E, Gedde-Dahl, Tobias, Hjorth-Hansen, Henrik, Dybedal, Ingunn, Nordøy, Ingvild, Jørgensen, Silje F, Abrahamsen, Tore G, Øverland, Torstein, Bechensteen, Anne Grete, Skogen, Vegard, Osnes, Liv TN, Kulseth, Mari Ann, Prescott, Trine E, Rustad, Cecilie F, Heimdal, Ketil R, Belmont, John W, Rider, Nicholas L, Chinen, Javier, Cao, Tram N, Smith, Eric A, Caldirola, Maria Soledad, Bezrodnik, Liliana, Reyes, Saul Oswaldo Lugo, Rosales, Francisco J Espinosa, Guerrero-Cursaru, Nina Denisse, Pedroza, Luis Alberto, Poli, Cecilia M, Franco, Jose L, Vargas, Claudia M Trujillo, Becerra, Juan Carlos Aldave, Wright, Nicola, Issekutz, Thomas B, Issekutz, Andrew C, Abbott, Jordan, Caldwell, Jason W, Bayer, Diana K, Chan, Alice Y, Aiuti, Alessandro, Cancrini, Caterina, Holmberg, Eva, West, Christina, Burstedt, Magnus, Karaca, Ender, Yesil, Gözde, Artac, Hasibe, Bayram, Yavuz, Atik, Mehmed Musa, Eldomery, Mohammad K, Ehlayel, Mohammad S, Jolles, Stephen, Flatø, Berit, Bertuch, Alison A, Hanson, I Celine, Zhang, Victor W, Wong, Lee-Jun, Hu, Jianhong, Walkiewicz, Magdalena, Yang, Yaping, Eng, Christine M, Boerwinkle, Eric, Gibbs, Richard A, Shearer, William T, Lyle, Robert, Orange, Jordan S, Lupski, James R

Superior Title: Journal of Allergy and Clinical Immunology, vol 139, iss 1

Subject Terms: Biomedical and Clinical Sciences, Immunology, Human Genome, Prevention, Clinical Research, Genetic Testing, Genetics, Rare Diseases, 2.1 Biological and endogenous factors, Detection, screening and diagnosis, 4.1 Discovery and preclinical testing of markers and technologies, Aetiology, Good Health and Well Being, Adolescent, Adult, Aged, Child, Preschool, DNA Copy Number Variations, Female, Genomics, High-Throughput Nucleotide Sequencing, Humans, Immunologic Deficiency Syndromes, Infant, Male, Middle Aged, Young Adult, Primary immunodeficiency disease

Subject Geographic: 232 - 245

File Description: application/pdf

Relation: qt8188960d; https://escholarship.org/uc/item/8188960d

Availability: https://escholarship.org/uc/item/8188960d

Authors: Abrams, Alexander J, Hufnagel, Robert B, Rebelo, Adriana, Zanna, Claudia, Patel, Neville, Gonzalez, Michael A, Campeanu, Ion J, Griffin, Laurie B, Groenewald, Saskia, Strickland, Alleene V, Tao, Feifei, Speziani, Fiorella, Abreu, Lisa, Schüle, Rebecca, Caporali, Leonardo, La Morgia, Chiara, Maresca, Alessandra, Liguori, Rocco, Lodi, Raffaele, Ahmed, Zubair M, Sund, Kristen L, Wang, Xinjian, Krueger, Laura A, Peng, Yanyan, Prada, Carlos E, Prows, Cynthia A, Schorry, Elizabeth K, Antonellis, Anthony, Zimmerman, Holly H, Abdul-Rahman, Omar A, Yang, Yaping, Downes, Susan M, Prince, Jeffery, Fontanesi, Flavia, Barrientos, Antonio, Németh, Andrea H, Carelli, Valerio, Huang, Taosheng, Zuchner, Stephan, Dallman, Julia E

Superior Title: Nature genetics, vol 47, iss 8

Subject Terms: COS Cells, Embryo, Nonmammalian, Animals, Genetically Modified, Zebrafish, Humans, Optic Atrophy, Autosomal Dominant, Charcot-Marie-Tooth Disease, Genetic Predisposition to Disease, Phosphate Transport Proteins, Muscle Proteins, Saccharomyces cerevisiae Proteins, Membrane Proteins, Mitochondrial Proteins, Microscopy, Confocal, Electron, Transmission, Pedigree, Sequence Analysis, DNA, RNA Interference, Protein Binding, Mutation, Female, Male, Mitochondrial Membranes, HEK293 Cells

Subject Geographic: 926 - 932

File Description: application/pdf

Relation: qt2ft7n3zk; https://escholarship.org/uc/item/2ft7n3zk

Availability: https://escholarship.org/uc/item/2ft7n3zk

Authors: Landstrom, Andrew P, Fernandez, Ernesto, Rosenfeld, Jill A, Yang, Yaping, Dailey-Schwartz, Andrew L, Miyake, Christina Y, Allen, Hugh D, Penny, Daniel J, Kim, Jeffrey J

Subject Terms: Humans, Long QT Syndrome, Genetic Predisposition to Disease, Amino Acids, DNA, DNA Mutational Analysis, Phenotype, Mutation, Adolescent, Child, Female, Male, Genetic Variation, Genetic Testing, Exome, Whole Exome Sequencing

File Description: application/pdf

Relation: Heart rhythm; S1547-5271(18)30142-5; https://hdl.handle.net/10161/20298

Availability: https://hdl.handle.net/10161/20298

Authors: Sen, Partha, Yang, Yaping, Navarro, Colby, Silva, Iris, Szafranski, Przemyslaw, Kolodziejska, Katarzyna E, Dharmadhikari, Avinash V, Mostafa, Hasnaa, Kozakewich, Harry, Kearney, Debra, Cahill, John B, Whitt, Merrissa, Bilic, Masha, Margraf, Linda, Charles, Adrian, Goldblatt, Jack, Gibson, Kathleen, Lantz, Patrick E, Garvin, A Julian, Petty, John, Kiblawi, Zeina, Zuppan, Craig, McConkie-Rosell, Allyn, McDonald, Marie T, Peterson-Carmichael, Stacey L, Gaede, Jane T, Shivanna, Binoy, Schady, Deborah, Friedlich, Philippe S, Hays, Stephen R, Palafoll, Irene Valenzuela, Siebers-Renelt, Ulrike, Bohring, Axel, Finn, Laura S, Siebert, Joseph R, Galambos, Csaba, Nguyen, Lananh, Riley, Melissa, Chassaing, Nicolas, Vigouroux, Adeline, Rocha, Gustavo, Fernandes, Susana, Brumbaugh, Jane, Roberts, Kari, Ho-Ming, Luk, Lo, Ivan F M, Lam, Stephen, Gerychova, Romana, Jezova, Marta, Valaskova, Iveta, Fellmann, Florence, Afshar, Katayoun, Giannoni, Eric, Muhlethaler, Vincent, Liang, Jinlong, Beckmann, Jacques S, Lioy, Janet, Deshmukh, Hitesh, Srinivasan, Lakshmi, Swarr, Daniel T, Sloman, Melissa, Shaw-Smith, Charles, van Loon, Rosa Laura, Hagman, Cecilia, Sznajer, Yves, Barréa, Catherine, Galant, Christine, Detaille, Thierry, Wambach, Jennifer A, Cole, F Sessions, Hamvas, Aaron, Prince, Lawrence S, Diderich, Karin E M, Brooks, Alice S, Verdijk, Robert M, Ravindranathan, Hari, Sugo, Ella, Mowat, David, Baker, Michael L, Langston, Claire, Welty, Stephen, Stankiewicz, Pawel

Contributors: UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - SSS/IREC/MORF - Pôle de Morphologie, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service d'anatomie pathologique, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Service de cardiologie pédiatrique, UCL - (SLuc) Service de soins intensifs

Superior Title: Human Mutation, Vol. 34, no. 6, p. 801-811 (2013)

Subject Terms: Amino Acid Sequence, Infant, Newborn, Male, Molecular Sequence Data, Mutation, Open Reading Frames, Persistent Fetal Circulation Syndrome, Protein Interaction Domains and Motifs, Sequence Alignment, Chromosome Mapping, Databases, Genetic, Female, Forkhead Transcription Factors, Gene Dosage, Gene Order, Humans

Relation: boreal:151866; http://hdl.handle.net/2078.1/151866; info:pmid/23505205; urn:ISSN:1059-7794; urn:EISSN:1098-1004

Availability: https://doi.org/10.1002/humu.22313
http://hdl.handle.net/2078.1/151866

Authors: Sen, Partha, Yang, Yaping, Navarro, Colby, Silva, Iris, Szafranski, Przemyslaw, Kolodziejska, Katarzyna E, Dharmadhikari, Avinash V, Mostafa, Hasnaa, Kozakewich, Harry, Kearney, Debra, Cahill, John B, Whitt, Merrissa, Bilic, Masha, Margraf, Linda, Charles, Adrian, Goldblatt, Jack, Gibson, Kathleen, Lantz, Patrick E, Garvin, A Julian, Petty, John, Kiblawi, Zeina, Zuppan, Craig, McConkie-Rosell, Allyn, McDonald, Marie T, Peterson-Carmichael, Stacey L, Gaede, Jane T, Shivanna, Binoy, Schady, Deborah, Friedlich, Philippe S, Hays, Stephen R, Palafoll, Irene Valenzuela, Siebers-Renelt, Ulrike, Bohring, Axel, Finn, Laura S, Siebert, Joseph R, Galambos, Csaba, Nguyen, Lananh, Riley, Melissa, Chassaing, Nicolas, Vigouroux, Adeline, Rocha, Gustavo, Fernandes, Susana, Brumbaugh, Jane, Roberts, Kari, Ho-Ming, Luk, Lo, Ivan F M, Lam, Stephen, Gerychova, Romana, Jezova, Marta, Valaskova, Iveta, Fellmann, Florence, Afshar, Katayoun, Giannoni, Eric, Muhlethaler, Vincent, Liang, Jinlong, Beckmann, Jacques S, Lioy, Janet, Deshmukh, Hitesh, Srinivasan, Lakshmi, Swarr, Daniel T, Sloman, Melissa, Shaw-Smith, Charles, van Loon, Rosa Laura, Hagman, Cecilia, Sznajer, Yves, Barréa, Catherine, Galant, Christine, Detaille, Thierry, Wambach, Jennifer A, Cole, F Sessions, Hamvas, Aaron, Prince, Lawrence S, Diderich, Karin E M, Brooks, Alice S, Verdijk, Robert M, Ravindranathan, Hari, Sugo, Ella, Mowat, David, Baker, Michael L, Langston, Claire, Welty, Stephen, Stankiewicz, Pawel

Contributors: UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - SSS/IREC/MORF - Pôle de Morphologie, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service d'anatomie pathologique, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Service de cardiologie pédiatrique, UCL - (SLuc) Service de soins intensifs

Superior Title: Human Mutation, Vol. 34, no. 6, p. 801-811 (2013)

Subject Terms: Amino Acid Sequence, Infant, Newborn, Male, Molecular Sequence Data, Mutation, Open Reading Frames, Persistent Fetal Circulation Syndrome, Protein Interaction Domains and Motifs, Sequence Alignment, Chromosome Mapping, Databases, Genetic, Female, Forkhead Transcription Factors, Gene Dosage, Gene Order, Humans

Relation: boreal:151866; http://hdl.handle.net/2078.1/151866; info:pmid/23505205; urn:ISSN:1059-7794; urn:EISSN:1098-1004

Availability: https://doi.org/10.1002/humu.22313
http://hdl.handle.net/2078.1/151866

Authors: Kury, Sébastien, van Woerden, Geeske, Besnard, Thomas, Onori, Martina, Latypova, Xenia, Towne, Meghan, Cho, Megan, Prescott, Trine, Ploeg, Melissa, Sanders, Stephan, Stessman, Holly, Pujol, Aurora, Distel, Ben, Robak, Laurie, Bernstein, Jonathan, Denommé-Pichon, Anne-Sophie, Lesca, Gaetan, Sellars, Elizabeth, Berg, Jonathan, Carré, Wilfrid, Busk, Øyvind, van Bon, Bregje, Waugh, Jeff, Deardorff, Matthew, Hoganson, George, Bosanko, Katherine, Johnson, Diana, Dabir, Tabib, Holla, Øystein, Sarkar, Ajoy, Tveten, Kristian, de Bellescize, Julitta, Braathen, Geir, Terhal, Paulien, Grange, Dorothy, van Haeringen, Arie, Lam, Christina, Mirzaa, Ghayda, Burton, Jennifer, Bhoj, Elizabeth, Douglas, Jessica, Santani, Avni, Nesbitt, Addie, Helbig, Katherine, Andrews, Marisa, Begtrup, Amber, Tang, Sha, van Gassen, Koen, Juusola, Jane, Foss, Kimberly, Enns, Gregory, Moog, Ute, Hinderhofer, Katrin, Paramasivam, Nagarajan, Lincoln, Sharyn, Kusako, Brandon, Lindenbaum, Pierre, Charpentier, Eric, Nowak, Catherine, Chérot, Elouan, Simonet, Thomas, Ruivenkamp, Claudia, Hahn, Sihoun, Brownstein, Catherine, Xia, Fan, Schmitt, Sébastien, Deb, Wallid, Bonneau, Dominique, Nizon, Mathilde, Quinquis, Delphine, Chelly, Jamel, Rudolf, Gabrielle, Sanlaville, Damien, Parent, Philippe, Gilbert-Dussardier, Brigitte, Toutain, Annick, Sutton, Vernon, Thies, Jenny, Peart-Vissers, Lisenka, Boisseau, Pierre, Vincent, Marie, Grabrucker, Andreas, Dubourg, Christèle, Network, Undiagnosed, Tan, Wen-Hann, Verbeek, Nienke, Granzow, Martin, Santen, Gijs, Shendure, Jay, Isidor, Bertrand, Pasquier, Laurent, Redon, Richard, Yang, Yaping, State, Matthew, Kleefstra, Tjitske, Cogné, Benjamin, Hugo, Gem, Study, Deciphering, Petrovski, Slavé, Retterer, Kyle, Eichler, Evan, Rosenfeld, Jill, Agrawal, Pankaj, Bezieau, Stéphane, Odent, Sylvie, Elgersma, Ype, Mercier, Sandra

Contributors: MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

Superior Title: ISSN: 0002-9297.

Subject Terms: Animals, Brain, Calcium-Calmodulin-Dependent Protein Kinase Type 2, Cell Line, Exome, Female, Glutamic Acid, HEK293 Cells, Humans, Intellectual Disability, Male, Mice, Inbred C57BL, Mutation, Neurons, Phosphorylation, Signal Transduction, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

Relation: hal-02103973; https://hal.science/hal-02103973; OKINA: ua19496

Availability: https://hal.science/hal-02103973

Authors: Zhang, Jing, Gambin, Tomasz, Yuan, Bo, Szafranski, Przemyslaw, Rosenfeld, Jill, Al Balwi, Mohammed, Alswaid, Abdulrahman, Al-Gazali, Lihadh, Al Shamsi, Aisha M, Komara, Makanko, Ali, Bassam, Roeder, Elizabeth, Mcauley, Laura, Roy, Daniel, Manchester, David, Magoulas, Pilar, King, Lauren, Hannig, Vickie, Bonneau, Dominique, Denommé-Pichon, Anne-Sophie, Charif, Majida, Besnard, Thomas, Bezieau, Stéphane, Cogné, Benjamin, Andrieux, Joris, Zhu, Wenmiao, He, Weimin, Vetrini, Francesco, Ward, Patricia, Wai Cheung, Sau, Bi, Weimin, Eng, Christine, Lupski, James, Yang, Yaping, Patel, Ankita, Lalani, Seema, Xia, Fan, Stankiewicz, Paweł

Contributors: MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

Superior Title: ISSN: 1432-1203 ; Hum Genet ; https://hal.science/hal-02104155 ; Hum Genet, 2017, 136, pp.377-386. ⟨10.1007/s00439-017-1763-1⟩ ; https://link.springer.com/article/10.1007/s00439-017-1763-1.

Subject Terms: Adolescent, Autism Spectrum Disorder, Carrier Proteins, Child, Preschool, Cohort Studies, DNA Copy Number Variations, Facies, Female, Haploinsufficiency, Humans, Infant, Intellectual Disability, Language Development Disorders, Male, Ubiquitin-Protein Ligases, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

Relation: hal-02104155; https://hal.science/hal-02104155; OKINA: ua19498; PUBMEDCENTRAL: PMC5543723

Availability: https://doi.org/10.1007/s00439-017-1763-1
https://hal.science/hal-02104155

Authors: Wang, Xia, Charng, Wu-Lin, Chen, Chun-An, Rosenfeld, Jill A, Al Shamsi, Aisha, Al-Gazali, Lihadh, McGuire, Marianne, Mew, Nicholas Ah, Arnold, Georgianne L, Qu, Chunjing, Ding, Yan, Muzny, Donna M, Gibbs, Richard A, Eng, Christine M, Walkiewicz, Magdalena, Xia, Fan, Plon, Sharon E, Lupski, James R, Schaaf, Christian P, Yang, Yaping

Superior Title: Pediatrics Faculty Publications

Subject Terms: Abnormalities, Multiple, Animals, Bone Diseases, Developmental, Cell Line, Chromosome Disorders, Craniofacial Abnormalities, Feeding and Eating Disorders, Female, Fusion Proteins, bcr-abl, Germ-Line Mutation, HEK293 Cells, Heart Defects, Congenital, Humans, Leukemia, Myelogenous, Chronic, BCR-ABL Positive, Limb Deformities, Male, Mice, Knockout, Philadelphia Chromosome, Phosphorylation, Signal Transduction, Pediatrics

Relation: https://hsrc.himmelfarb.gwu.edu/smhs_peds_facpubs/2104; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5373987/

Availability: https://hsrc.himmelfarb.gwu.edu/smhs_peds_facpubs/2104
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5373987/

Authors: Kury, Sébastien, van Woerden, Geeske, Besnard, Thomas, Onori, Martina, Latypova, Xenia, Towne, Meghan, Cho, Megan, Prescott, Trine, Ploeg, Melissa, Sanders, Stephan, Stessman, Holly, Pujol, Aurora, Distel, Ben, Robak, Laurie, Bernstein, Jonathan, Denommé-Pichon, Anne-Sophie, Lesca, Gaetan, Sellars, Elizabeth, Berg, Jonathan, Carré, Wilfrid, Busk, Øyvind, van Bon, Bregje, Waugh, Jeff, Deardorff, Matthew, Hoganson, George, Bosanko, Katherine, Johnson, Diana, Dabir, Tabib, Holla, Øystein, Sarkar, Ajoy, Tveten, Kristian, De Bellescize, Julitta, Braathen, Geir, Terhal, Paulien, Grange, Dorothy, Van Haeringen, Arie, Lam, Christina, Mirzaa, Ghayda, Burton, Jennifer, Bhoj, Elizabeth, Douglas, Jessica, Santani, Avni, Nesbitt, Addie, Helbig, Katherine, Andrews, Marisa, Begtrup, Amber, Tang, Sha, van Gassen, Koen, Juusola, Jane, Foss, Kimberly, Enns, Gregory, Moog, Ute, Hinderhofer, Katrin, Paramasivam, Nagarajan, Lincoln, Sharyn, Kusako, Brandon, Lindenbaum, Pierre, Charpentier, Eric, Nowak, Catherine, Chérot, Elouan, Simonet, Thomas, Ruivenkamp, Claudia, Hahn, Sihoun, Brownstein, Catherine, Xia, Fan, Schmitt, Sébastien, Deb, Wallid, Bonneau, Dominique, Nizon, Mathilde, Quinquis, Delphine, Chelly, Jamel, Rudolf, Gabrielle, Sanlaville, Damien, Parent, Philippe, Gilbert-Dussardier, Brigitte, Toutain, Annick, Sutton, Vernon, Thies, Jenny, Peart-Vissers, Lisenka, Boisseau, Pierre, Vincent, Marie, Grabrucker, Andreas, Dubourg, Christèle, Network, Undiagnosed, Tan, Wen-Hann, Verbeek, Nienke, Granzow, Martin, Santen, Gijs, Shendure, Jay, Isidor, Bertrand, Pasquier, Laurent, Redon, Richard, Yang, Yaping, State, Matthew, Kleefstra, Tjitske, Cogné, Benjamin, HUGO, GEM, study, Deciphering, Petrovski, Slavé, Retterer, Kyle, Eichler, Evan, Rosenfeld, Jill, Agrawal, Pankaj, Bezieau, Stéphane, Odent, Sylvie, Elgersma, Ype, Mercier, Sandra

Contributors: Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

Superior Title: ISSN: 0002-9297.

Subject Terms: Animals, Brain, Calcium-Calmodulin-Dependent Protein Kinase Type 2, Cell Line, Exome, Female, Glutamic Acid, HEK293 Cells, Humans, Intellectual Disability, Male, Mice, Inbred C57BL, Mutation, Neurons, Phosphorylation, Signal Transduction, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

Relation: hal-02103973; https://hal.archives-ouvertes.fr/hal-02103973; OKINA: ua19496

Availability: https://hal.archives-ouvertes.fr/hal-02103973

Authors: Zhang, Jing, Gambin, Tomasz, Yuan, Bo, Szafranski, Przemyslaw, Rosenfeld, Jill, Al Balwi, Mohammed, Alswaid, Abdulrahman, Al-Gazali, Lihadh, Al Shamsi, Aisha M, Komara, Makanko, Ali, Bassam, Roeder, Elizabeth, McAuley, Laura, Roy, Daniel, Manchester, David, Magoulas, Pilar, King, Lauren, Hannig, Vickie, Bonneau, Dominique, Denommé-Pichon, Anne-Sophie, Charif, Majida, Besnard, Thomas, Bezieau, Stéphane, Cogné, Benjamin, Andrieux, Joris, Zhu, Wenmiao, He, Weimin, Vetrini, Francesco, Ward, Patricia, Wai Cheung, Sau, Bi, Weimin, Eng, Christine, Lupski, James, Yang, Yaping, Patel, Ankita, Lalani, Seema, Xia, Fan, Stankiewicz, Paweł

Contributors: Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

Superior Title: ISSN: 1432-1203 ; Hum Genet ; https://hal.archives-ouvertes.fr/hal-02104155 ; Hum Genet, 2017, 136, pp.377-386. ⟨10.1007/s00439-017-1763-1⟩ ; https://link.springer.com/article/10.1007/s00439-017-1763-1.

Subject Terms: Ubiquitin-Protein Ligases, Male, Infant, Intellectual Disability, Language Development Disorders, Humans, Adolescent, Autism Spectrum Disorder, Carrier Proteins, Child, Preschool, Cohort Studies, DNA Copy Number Variations, Facies, Female, Haploinsufficiency, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

Relation: hal-02104155; https://hal.archives-ouvertes.fr/hal-02104155; OKINA: ua19498

Availability: https://doi.org/10.1007/s00439-017-1763-1
https://hal.archives-ouvertes.fr/hal-02104155

Authors: Abrams, Alexander J, Hufnagel, Robert B, Tao, Feifei, Speziani, Fiorella, Abreu, Lisa, Schüle, Rebecca, Caporali, Leonardo, La Morgia, Chiara, Maresca, Alessandra, Liguori, Rocco, Lodi, Raffaele, Ahmed, Zubair M, Rebelo, Adriana, Sund, Kristen L, Wang, Xinjian, Krueger, Laura A, Peng, Yanyan, Prada, Carlos E, Prows, Cynthia A, Schorry, Elizabeth K, Antonellis, Anthony, Zimmerman, Holly H, Abdul-Rahman, Omar A, Zanna, Claudia, Yang, Yaping, Downes, Susan M, Prince, Jeffery, Fontanesi, Flavia, Barrientos, Antonio, Németh, Andrea H, Carelli, Valerio, Huang, Taosheng, Zuchner, Stephan, Dallman, Julia E, Patel, Neville, Gonzalez, Michael A, Campeanu, Ion J, Griffin, Laurie B, Groenewald, Saskia, Strickland, Alleene V

Superior Title: Nature genetics 47(8), 926-932 (2015). doi:10.1038/ng.3354

Subject Terms: info:eu-repo/classification/ddc/570, Animals, Genetically Modified, COS Cells, Charcot-Marie-Tooth Disease: genetics, Charcot-Marie-Tooth Disease: metabolism, Chlorocebus aethiops, Embryo, Nonmammalian: embryology, Nonmammalian: metabolism, Nonmammalian: ultrastructure, Exome: genetics, Female, Genetic Predisposition to Disease: genetics, HEK293 Cells, Humans, Male, Membrane Proteins: genetics, Membrane Proteins: metabolism, Microscopy, Confocal, Electron, Transmission, Mitochondrial Membranes: metabolism, Mitochondrial Proteins: genetics, Mitochondrial Proteins: metabolism, Muscle Proteins: genetics, Muscle Proteins: metabolism, Mutation, Optic Atrophy

Subject Geographic: DE

Relation: info:eu-repo/semantics/altIdentifier/pmid/pmid:26168012; info:eu-repo/semantics/altIdentifier/issn/1546-1718; info:eu-repo/semantics/altIdentifier/issn/1061-4036; https://pub.dzne.de/record/138041; https://pub.dzne.de/search?p=id:%22DZNE-2020-04363%22

Availability: https://doi.org/10.1038/ng.3354
https://pub.dzne.de/record/138041
https://pub.dzne.de/search?p=id:%22DZNE-2020-04363%22

Authors: Berryer, Martin H, Hamdan, Fadi F, Klitten, Laura L, Møller, Rikke Steensbjerre, Carmant, Lionel, Schwartzentruber, Jeremy, Patry, Lysanne, Dobrzeniecka, Sylvia, Rochefort, Daniel, Neugnot-Cerioli, Mathilde, Lacaille, Jean-Claude, Niu, Zhiyv, Eng, Christine M, Yang, Yaping, Palardy, Sylvain, Belhumeur, Céline, Rouleau, Guy A, Tommerup, Niels, Immken, Ladonna, Beauchamp, Miriam H, Patel, Gayle Simpson, Majewski, Jacek, Tarnopolsky, Mark A, Scheffzek, Klaus, Hjalgrim, Helle, Michaud, Jacques L, Di Cristo, Graziella

Superior Title: Berryer , M H , Hamdan , F F , Klitten , L L , Møller , R S , Carmant , L , Schwartzentruber , J , Patry , L , Dobrzeniecka , S , Rochefort , D , Neugnot-Cerioli , M , Lacaille , J-C , Niu , Z , Eng , C M , Yang , Y , Palardy , S , Belhumeur , C , Rouleau , G A , Tommerup , N , Immken , L , Beauchamp , M H , Patel , G S , Majewski , J , Tarnopolsky , M ....

Subject Terms: Adolescent, Amino Acid Sequence, Autistic Disorder, Blotting, Western, Child, Preschool, Cloning, Molecular, Epilepsy, Exome, Extracellular Signal-Regulated MAP Kinases, Female, HEK293 Cells, Haploinsufficiency, Humans, Intellectual Disability, Male, Molecular Sequence Data, Mutation, Missense, Phenotype, Phosphorylation, Protein Conformation, Sequence Analysis, DNA, Transfection, ras GTPase-Activating Proteins, SYNGAP1, Autism

Relation: https://portal.findresearcher.sdu.dk/da/publications/8334075e-634f-47ad-8b17-00ec987ec757

Availability: https://doi.org/10.1002/humu.22248
https://portal.findresearcher.sdu.dk/da/publications/8334075e-634f-47ad-8b17-00ec987ec757