المؤلفون: Chettle, James, Louie, Raymond, Larner, Olivia, Best, Robert, Chen, Kevin, Morris, Josephine, Dedeic, Zinaida, Childers, Anna, Rogers, R, DuPont, Barbara, Skinner, Cindy, Küry, Sébastien, Uguen, Kevin, Planes, Marc, Monteil, Danielle, Li, Megan, Eliyahu, Aviva, Greenbaum, Lior, Mor, Nofar, Besnard, Thomas, Isidor, Bertrand, Cogné, Benjamin, Blesson, Alyssa, Comi, Anne, Wentzensen, Ingrid, Vuocolo, Blake, Lalani, Seema, Sierra, Roberta, Berry, Lori, Carter, Kent, Sanders, Stephan, Blagden, Sarah

المصدر: HGG Advances. 5(4)

مصطلحات موضوعية: ASD, LARP1, NDD, RBP, RNA binding protein, autism, metabolism, neurodevelopmental, plasticity, proband, Adolescent, Adult, Child, Child, Preschool, Female, Humans, Male, Autism Spectrum Disorder, Haploinsufficiency, Neurodevelopmental Disorders, Ribonucleoproteins, RNA Recognition Motif Proteins

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4nc359j3
https://escholarship.org/content/qt4nc359j3/qt4nc359j3.pdf

المؤلفون: Roychaudhury, Arkaprava, Lee, Yu‐Ri, Choi, Tae‐Ik, Thomas, Mervyn G., Khan, Tahir N., Yousaf, Hammad, Skinner, Cindy, Maconachie, Gail, Crosier, Moira, Horak, Holli, Constantinescu, Cris S., Kim, Tae‐Yoon, Lee, Kang‐Han, Kyung, Jae‐Jun, Wang, Tao, Ku, Bonsu, Chodirker, Bernard N., Hammer, Michael F., Gottlob, Irene, Norton, William H. J., Gerlai, Robert, Kim, Hyung‐Goo, Graziano, Claudio, Pippucci, Tommaso, Iovino, Emanuela, Montanari, Francesca, Severi, Giulia, Toro, Camilo, Boerkoel, Cornelius F., Cha, Hyo Sun, Choi, Cheol Yong, Kim, Sungjin, Yoon, Je‐Hyun, Gilmore, Kelly, Vora, Neeta L., Davis, Erica E., Chudley, Albert E., Schwartz, Charles E., Kim, Cheol‐Hee

المساهمون: Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institute of Mental Health, National Institute of Neurological Disorders and Stroke, Natural Sciences and Engineering Research Council of Canada, Ministry of Oceans and Fisheries, National Institute for Health and Care Research, National Research Foundation of Korea

المصدر: Annals of Neurology ; volume 96, issue 5, page 914-931 ; ISSN 0364-5134 1531-8249

الاتاحة: http://dx.doi.org/10.1002/ana.27037
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.27037

المؤلفون: Sarli, Camilla, van der Laan, Liselot, Reilly, Jack, Trajkova, Slavica, Carli, Diana, Brusco, Alfredo, Levy, Michael A., Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Tedder, Matthew L., Skinner, Cindy, Alders, Mariëlle, Henneman, Peter, Hennekam, Raoul C. M., Ciaccio, Claudia, D'Arrigo, Stefano, Vitobello, Antonio, Faivre, Laurence, Weber, Sacha, Vincent‐Devulder, Aline, Perrin, Laurence, Bourgois, Alexia, Yamamoto, Toshiyuki, Metcalfe, Kay, Zollino, Marcella, Kini, Usha, Oliveira, Daniela, Sousa, Sergio B., Williams, Denise, Cappuccio, Gerarda, Sadikovic, Bekim, Brunetti‐Pierri, Nicola

المساهمون: Fondazione Telethon

المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics ; volume 196, issue 4 ; ISSN 1552-4868 1552-4876

الاتاحة: https://doi.org/10.1002/ajmg.c.32089
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.32089

المؤلفون: Montanaro, Federica Alice Maria, Mandarino, Alessandra, Alesi, Viola, Schwartz, Charles, Sepulveda, Daniela Judith Claps, Skinner, Cindy, Friez, Michael, Piccolo, Gabriele, Novelli, Antonio, Zanni, Ginevra, Dentici, Maria Lisa, Vicari, Stefano, Alfieri, Paolo

المصدر: Frontiers in Psychiatry ; volume 15 ; ISSN 1664-0640

الاتاحة: http://dx.doi.org/10.3389/fpsyt.2024.1375954
https://www.frontiersin.org/articles/10.3389/fpsyt.2024.1375954/full

المؤلفون: Montanaro, Federica Alice Maria, Mandarino, Alessandra, Alesi, Viola, Schwartz, Charles, Sepulveda, Daniela Judith Claps, Skinner, Cindy, Friez, Michael, Piccolo, Gabriele, Novelli, Antonio, Zanni, Ginevra, Dentici, Maria Lisa, Vicari, Stefano, Alfieri, Paolo

المصدر: Frontiers in Psychiatry ; volume 14 ; ISSN 1664-0640

الاتاحة: http://dx.doi.org/10.3389/fpsyt.2023.1327802
https://www.frontiersin.org/articles/10.3389/fpsyt.2023.1327802/full

المؤلفون: Broeckel, Ulrich, Iqbal, M. Anwar, Levy, Brynn, Sahajpal, Nikhil, Nagy, Peter L., Scharer, Gunter, Rodriguez, Vanessa, Bossler, Aaron, Stence, Aaron, Skinner, Cindy, Skinner, Steven A., Kolhe, Ravindra, Stevenson, Roger

المصدر: The Journal of Molecular Diagnostics ; volume 26, issue 3, page 213-226 ; ISSN 1525-1578

الاتاحة: http://dx.doi.org/10.1016/j.jmoldx.2023.12.003
https://api.elsevier.com/content/article/PII:S1525157824000047?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1525157824000047?httpAccept=text/plain

المؤلفون: Skinner, Cindy, Pauly, Rini, Skinner, Steven A., Schroer, Richard J., Simensen, Richard J., Taylor, Harold A., Friez, Michael J., DuPont, Barbara R., Stevenson, Roger E. (ORCID 0000-0002-1806-6345)

المصدر: Journal of Autism and Developmental Disorders. Feb 2021 51(2):677-684.

Peer Reviewed: Y

Page Count: 8

Descriptors: Autism, Pervasive Developmental Disorders, Longitudinal Studies, Etiology, Genetics, Environmental Influences, Intellectual Disability, Comorbidity, Independent Living, Group Homes, Educational Attainment

المؤلفون: Bosch, Elisabeth, Popp, Bernt, Güse, Esther, Skinner, Cindy, van der Sluijs, Pleuntje J., Maystadt, Isabelle, Pinto, Anna Maria, Renieri, Alessandra, Bruno, Lucia Pia, Granata, Stefania, Marcelis, Carlo, Baysal, Özlem, Hartwich, Dewi, Holthöfer, Laura, Isidor, Bertrand, Cogne, Benjamin, Wieczorek, Dagmar, Capra, Valeria, Scala, Marcello, de Marco, Patrizia, Ognibene, Marzia, Jamra, Rami Abou, Platzer, Konrad, Carter, Lauren B., Kuismin, Outi, van Haeringen, Arie, Maroofian, Reza, Valenzuela, Irene, Cuscó, Ivon, Martinez-Agosto, Julian A., Rabani, Ahna M., Mefford, Heather C., Pereira, Elaine M., Close, Charlotte, Anyane-Yeboa, Kwame, Wagner, Mallory, Hannibal, Mark C., Zacher, Pia, Thiffault, Isabelle, Beunders, Gea, Umair, Muhammad, Bhola, Priya T., McGinnis, Erin, Millichap, John, van de Kamp, Jiddeke M., Prijoles, Eloise J., Dobson, Amy, Shillington, Amelle, Graham, Brett H., Garcia, Evan-Jacob, Galindo, Maureen Kelly, Ropers, Fabienne G., Nibbeling, Esther A. R., Hubbard, Gail, Karimov, Catherine, Goj, Guido, Bend, Renee, Rath, Julie, Morrow, Michelle M., Millan, Francisca, Salpietro, Vincenzo, Torella, Annalaura, Nigro, Vincenzo, Kurki, Mitja, Stevenson, Roger E., Santen, Gijs W. E., Zweier, Markus, Campeau, Philippe M., Severino, Mariasavina, Reis, André, Accogli, Andrea, Vasileiou, Georgia

المصدر: Bosch , E , Popp , B , Güse , E , Skinner , C , van der Sluijs , P J , Maystadt , I , Pinto , A M , Renieri , A , Bruno , L P , Granata , S , Marcelis , C , Baysal , Ö , Hartwich , D , Holthöfer , L , Isidor , B , Cogne , B , Wieczorek , D , Capra , V , Scala , M , de Marco , P , Ognibene , M , Jamra , R A , Platzer , K , ....

الاتاحة: https://research.vumc.nl/en/publications/47b00604-c0fa-431e-b4dc-67690fdf85b9
https://doi.org/10.1016/j.gim.2023.100950
http://www.scopus.com/inward/record.url?scp=85173555062&partnerID=8YFLogxK

المؤلفون: Wang, Jiyong, Foroutan, Aidin, Richardson, Ellen, Skinner, Steven A., Reilly, Jack, Kerkhof, Jennifer, Curry, Cynthia J., Tarpey, Patrick S., Robertson, Stephen P., Maystadt, Isabelle, Keren, Boris, Dixon, Joanne W., Skinner, Cindy, Stapleton, Rachel, Ruaud, Lyse, Gumus, Evren, Lakeman, Phillis, Alders, Mariëlle, Tedder, Matthew L., Schwartz, Charles E., Friez, Michael J., Sadikovic, Bekim, Stevenson, Roger E.

المصدر: Wang , J , Foroutan , A , Richardson , E , Skinner , S A , Reilly , J , Kerkhof , J , Curry , C J , Tarpey , P S , Robertson , S P , Maystadt , I , Keren , B , Dixon , J W , Skinner , C , Stapleton , R , Ruaud , L , Gumus , E , Lakeman , P , Alders , M , Tedder , M L , Schwartz , C E , Friez , M J , Sadikovic , B & Stevenson , R ....

الاتاحة: https://research.vumc.nl/en/publications/997b99b3-f07d-4718-b2bd-8befa9f38299
https://doi.org/10.1038/s41431-023-01499-2
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85178482395&origin=inward
https://www.ncbi.nlm.nih.gov/pubmed/38040915

المؤلفون: Moffitt, Bridgette A., Oberman, Lindsay M., Beamer, Laura, Srikanth, Sujata, Jain, Lavanya, Cascio, Lauren, Jones, Kelly, Pauly, Rini, May, Melanie, Skinner, Cindy, Buchanan, Caroline, DuPont, Barbara R., Kaufmann, Walter E., Valentine, Kathleen, Ward, Linda D., Ivankovic, Diana, Rogers, R. Curtis, Phelan, Katy, Sarasua, Sara M., Boccuto, Luigi

المساهمون: Greenwood Genetic Center Foundation

المصدر: Clinical Genetics ; volume 104, issue 2, page 198-209 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.14361
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14361

المؤلفون: Iqbal, M. Anwar, Broeckel, Ulrich, Levy, Brynn, Skinner, Steven, Sahajpal, Nikhil S., Rodriguez, Vanessa, Stence, Aaron, Awayda, Kamel, Scharer, Gunter, Skinner, Cindy, Stevenson, Roger, Bossler, Aaron, Nagy, Peter L., Kolhe, Ravindra

المصدر: The Journal of Molecular Diagnostics ; volume 25, issue 3, page 175-188 ; ISSN 1525-1578

الاتاحة: http://dx.doi.org/10.1016/j.jmoldx.2022.12.005
https://api.elsevier.com/content/article/PII:S1525157823000028?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1525157823000028?httpAccept=text/plain

المؤلفون: Rudy, Natasha, Aoki, Kazuhiro, Ananth, Amitha, Holloway, Lynda, Skinner, Cindy, Hurst, Anna, Tiemeyer, Michael, Steet, Richard

المساهمون: Greenwood Genetic Center Foundation

المصدر: JIMD Reports ; volume 64, issue 2, page 138-145 ; ISSN 2192-8312 2192-8312

الاتاحة: http://dx.doi.org/10.1002/jmd2.12353
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12353
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/jmd2.12353

المؤلفون: Caylor, Raymond, Fee, Timothy, Lay, Andrew, Skinner, Cindy, Everman, David, Blue, Elizabeth, Bamshad, Michael, Schwartz, Charles, Friez, Michael, Stevenson, Roger

المصدر: Genetics in Medicine ; volume 24, issue 3, page S204 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2022.01.361
https://api.elsevier.com/content/article/PII:S1098360022003781?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360022003781?httpAccept=text/plain

المؤلفون: Godler, David E., Ling, Ling, Gamage, Dinusha, Baker, Emma K., Bui, Minh, Field, Michael J., Rogers, Carolyn, Butler, Merlin G., Murgia, Alessandra, Leonardi, Emanuela, Polli, Roberta, Schwartz, Charles E., Skinner, Cindy D., Alliende, Angelica M., Santa Maria, Lorena, Pitt, James, Greaves, Ronda, Francis, David, Oertel, Ralph, Wang, Min, Simons, Cas, Amor, David J.

المصدر: JAMA Network Open ; volume 5, issue 1, page e2141911 ; ISSN 2574-3805

الاتاحة: http://dx.doi.org/10.1001/jamanetworkopen.2021.41911
https://jamanetwork.com/journals/jamanetworkopen/articlepdf/2787581/godler_2022_oi_211166_1643823318.97756.pdf

المؤلفون: Godler, David E, Inaba, Yoshimi, Schwartz, Charles E, Bui, Quang M, Shi, Elva Z, Li, Xin, Herlihy, Amy S, Skinner, Cindy, Hagerman, Randi J, Francis, David, Amor, David J, Metcalfe, Sylvia A, Hopper, John L, Slater, Howard R

مصطلحات موضوعية: Chromosomes, Human, X, Saliva, Humans, Fragile X Syndrome, Aneuploidy, DNA, DNA Methylation, Gene Expression, CpG Islands, Nucleic Acid Denaturation, Introns, Exons, Adolescent, Adult, Aged, Aged, 80 and over, Middle Aged, Child, Child, Preschool, Infant, Infant, Newborn, Female, Male, X Chromosome Inactivation, Fragile X Mental Retardation Protein, and over, Preschool, Chromosomes, Human, X, Newborn, Biochemistry and Cell Biology, Immunology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7qt2f52m

المؤلفون: Haghshenas, Sadegheh, Karimi, Karim, Stevenson, Roger E., Levy, Michael A., Relator, Raissa, Kerkhof, Jennifer, Rzasa, Jessica, McConkey, Haley, Lauzon-Young, Carolyn, Balci, Tugce B., White-Brown, Alexandre M., Carter, Melissa T., Richer, Julie, Armour, Christine M., Sawyer, Sarah L., Bhola, Priya T., Tedder, Matthew L., Skinner, Cindy D., van Rooij, Iris A.L.M., van de Putte, Romy, de Blaauw, Ivo, Koeck, Rebekka M., Hoischen, Alexander, Brunner, Han, Esteki, Masoud Zamani, Pelet, Anna, Lyonnet, Stanislas, Amiel, Jeanne, Boycott, Kym M., Sadikovic, Bekim

المصدر: Haghshenas , S , Karimi , K , Stevenson , R E , Levy , M A , Relator , R , Kerkhof , J , Rzasa , J , McConkey , H , Lauzon-Young , C , Balci , T B , White-Brown , A M , Carter , M T , Richer , J , Armour , C M , Sawyer , S L , Bhola , P T , Tedder , M L , Skinner , C D , van Rooij , I A L M , van de Putte , R , de Blaauw , ....

مصطلحات موضوعية: DNA methylation, epigenetics, episignature, OAV, recurrent constellations of embryonic malformations, VACTERL

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/66fbeaea-bf4d-4a05-a093-159514e4c1ca
https://doi.org/10.1016/j.ajhg.2024.07.005

المؤلفون: Godler, David E., Ling, Ling, Gamage, Dinusha, Baker, Emma K., Bui, Minh, Field, Michael J., Rogers, Carolyn, Butler, Merlin G., Murgia, Alessandra, Leonardi, Emanuela, Polli, Roberta, Schwartz, Charles E., Skinner, Cindy D., Alliende Rodríguez, Maria Angelica, Santa María Vásquez, Lorena Ivette, Pitt, James, Greaves, Ronda, Francis, David, Oertel, Ralph, Wang, Min, Simons, Cas, Amor, David J.

المصدر: Red Jama Abierta

مصطلحات موضوعية: Síndrome de prader - willi, Síndrome de angelman, Diagnóstico

وصف الملف: application/pdf

Relation: Red Jama Abierta (2021) 5:1 Artículo e2141911; 0.1001/jamanetworkopen.2021.41911; https://repositorio.uchile.cl/handle/2250/184966

الاتاحة: https://repositorio.uchile.cl/handle/2250/184966

المؤلفون: Aprigliano, Rossana, Aksu, Merdane Ezgi, Bradamante, Stefano, Mihaljevic, Boris, Wang, Wei, Rian, Kristin, Montaldo, Nicola Pietro, Grooms, Kayla, Martin, Sarah, Bordin, Diana Lilian, Bosshard, Matthias, Peng, Yunhui, Alexov, Emil, Skinner, Cindy, Liabakk, Nina-Beate, Sullivan, Gareth, Bjørås, Magnar, Schwartz, Charles, van Loon, Barbara

المصدر: 2666-3791.

Relation: http://urn.nb.no/URN:NBN:no-92255; Aprigliano, Rossana Aksu, Merdane Ezgi Bradamante, Stefano Mihaljevic, Boris Wang, Wei Rian, Kristin Montaldo, Nicola Pietro Grooms, Kayla Martin, Sarah Bordin, Diana Lilian Bosshard, Matthias Peng, Yunhui Alexov, Emil Skinner, Cindy Liabakk, Nina-Beate Sullivan, Gareth Bjørås, Magnar Schwartz, Charles van Loon, Barbara . Increased p53 signaling impairs neural differentiation in HUWE1-promoted intellectual disabilities. Cell Reports Medicine. 2021, 2(4); http://hdl.handle.net/10852/89641; 1908765; info:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Cell Reports Medicine&rft.volume=2&rft.spage=&rft.date=2021; Cell Reports Medicine; 27; https://doi.org/10.1016/j.xcrm.2021.100240; URN:NBN:no-92255; Fulltext https://www.duo.uio.no/bitstream/handle/10852/89641/2/mmc2.pdf

الاتاحة: http://hdl.handle.net/10852/89641
http://urn.nb.no/URN:NBN:no-92255
https://doi.org/10.1016/j.xcrm.2021.100240

المؤلفون: Srikanth, Sujata, Cascio, Lauren, Pauly, Rini, Jones, Kelly, Sorrow, Skylar, Cubillan, Rossana, Chen, Chin-Fu, Skinner, Cindy D., Champaigne, Kevin, Stevenson, Roger E., Schwartz, Charles E., Boccuto, Luigi

المصدر: Data in Brief ; volume 39, page 107598 ; ISSN 2352-3409

الاتاحة: http://dx.doi.org/10.1016/j.dib.2021.107598
https://api.elsevier.com/content/article/PII:S2352340921008738?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2352340921008738?httpAccept=text/plain

المؤلفون: Yu, Seok-Ho, Wang, Tong, Wiggins, Kali, Louie, Raymond J., Merino, Emilio F., Skinner, Cindy, Cassera, Maria B., Meagher, Kirsten, Goldberg, Paul, Rismanchi, Neggy, Chen, Dillon, Lyons, Michael J., Flanagan-Steet, Heather, Steet, Richard

المساهمون: National Institute of General Medical Sciences

المصدر: Genetics in Medicine ; volume 23, issue 7, page 1305-1314 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-021-01137-6
http://www.nature.com/articles/s41436-021-01137-6.pdf
http://www.nature.com/articles/s41436-021-01137-6
https://api.elsevier.com/content/article/PII:S1098360021050413?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021050413?httpAccept=text/plain