المؤلفون: Levy, Brynn, Liu, Jie, Iqbal, M. Anwar, DuPont, Barbara, Sahajpal, Nikhil, Ho, Monique, Yu, Jingwei, Brody, Sam J., Ganapathi, Mythily, Rajkovic, Aleksandar, Smolarek, Teresa A., Boyar, Fatih, Bui, Peter, Dubuc, Adrian M., Kolhe, Ravindra, Stevenson, Roger E.

المصدر: The Journal of Molecular Diagnostics ; volume 26, issue 10, page 906-916 ; ISSN 1525-1578

الاتاحة: https://doi.org/10.1016/j.jmoldx.2024.06.006
https://api.elsevier.com/content/article/PII:S1525157824001570?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1525157824001570?httpAccept=text/plain

المؤلفون: Bina, Roya, Matalon, Dena, Fregeau, Brieana, Tarsitano, Jacqueline Joani, Aukrust, Ingvild, Houge, Gunnar, Bend, Renee, Warren, Hannah, Stevenson, Roger E, Stuurman, Kyra Eva, Barkovich, A James, Sherr, Elliott H

المصدر: Journal of Medical Genetics. 57(7)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Clinical Sciences, Human Genome, Brain Disorders, Neurosciences, Intellectual and Developmental Disabilities (IDD), Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Adolescent, Agenesis of Corpus Callosum, Brain, Cell Cycle Proteins, Child, Child, Preschool, Corpus Callosum, Exome, Female, Genetic Predisposition to Disease, Humans, Intellectual Disability, Male, Mutation, Missense, Neurodevelopmental Disorders, Seizures, Transcription Factors, Exome Sequencing, genetics, developmental, other neurology, Medical and Health Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/42t3t7jh

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: Dowsett, Leah, Porras, Antonio R, Kruszka, Paul, Davis, Brandon, Hu, Tommy, Honey, Engela, Badoe, Eben, Thong, Meow‐Keong, Leon, Eyby, Girisha, Katta M, Shukla, Anju, Nayak, Shalini S, Shotelersuk, Vorasuk, Megarbane, Andre, Phadke, Shubha, Sirisena, Nirmala D, Dissanayake, Vajira HW, Ferreira, Carlos R, Kisling, Monisha S, Tanpaiboon, Pranoot, Uwineza, Annette, Mutesa, Leon, Tekendo‐Ngongang, Cedrik, Wonkam, Ambroise, Fieggen, Karen, Batista, Leticia Cassimiro, Moretti‐Ferreira, Danilo, Stevenson, Roger E, Prijoles, Eloise J, Everman, David, Clarkson, Kate, Worthington, Jessica, Kimonis, Virginia, Hisama, Fuki, Crowe, Carol, Wong, Paul, Johnson, Kisha, Clark, Robin D, Bird, Lynne, Masser‐Frye, Diane, McDonald, Marie, Willems, Patrick, Roeder, Elizabeth, Saitta, Sulgana, Anyane‐Yeoba, Kwame, Demmer, Laurie, Hamajima, Naoki, Stark, Zornitza, Gillies, Greta, Hudgins, Louanne, Dave, Usha, Shalev, Stavit, Siu, Victoria, Gupta, Neerja, Kabra, Madhulika, Ades, Ann, Dubbs, Holly, Raible, Sarah, Kaur, Maninder, Salzano, Emanuela, Jackson, Laird, Deardorff, Matthew, Kline, Antonie, Summar, Marshall, Muenke, Maximilian, Linguraru, Marius George, Krantz, Ian D

المصدر: American Journal of Medical Genetics Part A. 179(2)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Brain Disorders, Rare Diseases, Clinical Research, Intellectual and Developmental Disabilities (IDD), Pediatric, Neurosciences, Congenital, Abnormalities, Multiple, Adolescent, Adult, Cell Cycle Proteins, Child, Child, Preschool, Chondroitin Sulfate Proteoglycans, Chromosomal Proteins, Non-Histone, De Lange Syndrome, Face, Female, Humans, Image Processing, Computer-Assisted, Infant, Infant, Newborn, Intellectual Disability, Male, Mutation, Phenotype, Racial Groups, Young Adult, CdLS, Cornelia de Lange syndrome, diverse populations, facial analysis technology, NIPBL, underrepresented minorities, Clinical Sciences, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6w35196f

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: Genomics England Research Consortium, Rots, Dmitrijs, Jakub, Taryn E., Keung, Crystal, Jackson, Adam, Banka, Siddharth, Pfundt, Rolph, de Vries, Bert B.A., van Jaarsveld, Richard H., Hopman, Saskia M.J., van Binsbergen, Ellen, Valenzuela, Irene, Hempel, Maja, Bierhals, Tatjana, Kortüm, Fanny, Lecoquierre, Francois, Goldenberg, Alice, Hertz, Jens Michael, Andersen, Charlotte Brasch, Kibæk, Maria, Prijoles, Eloise J., Stevenson, Roger E., Everman, David B., Patterson, Wesley G., Meng, Linyan, Gijavanekar, Charul, De Dios, Karl, Lakhani, Shenela, Levy, Tess, Wagner, Matias, Wieczorek, Dagmar, Benke, Paul J., Lopez Garcia, María Soledad, Perrier, Renee, Sousa, Sergio B., Almeida, Pedro M., Simões, Maria José, Isidor, Bertrand, Deb, Wallid, Schmanski, Andrew A., Abdul-Rahman, Omar, Philippe, Christophe, Bruel, Ange Line, Faivre, Laurence, Vitobello, Antonio, Thauvin, Christel, Smits, Jeroen J., Garavelli, Livia, Caraffi, Stefano G., Peluso, Francesca, Puura, Kaija

المساهمون: Tampere University, Clinical Medicine, LAPS, Child psychiatry

مصطلحات موضوعية: 3124 Neurology and psychiatry, 3123 Gynaecology and paediatrics

وصف الملف: fulltext

Relation: 110; https://trepo.tuni.fi/handle/10024/153083

الاتاحة: https://trepo.tuni.fi/handle/10024/153083
https://doi.org/10.1016/j.ajhg.2023.04.008

المؤلفون: Genetica, Genetica Klinische Genetica, Circulatory Health, Kerkhof, Jennifer, Rastin, Cassandra, Levy, Michael A., Relator, Raissa, McConkey, Haley, Demain, Leigh, Dominguez-Garrido, Elena, Kaat, Laura Donker, Houge, Sofia Douzgou, DuPont, Barbara R., Fee, Timothy, Fletcher, Robin S., Gokhale, David, Haukanes, Bjørn Ivar, Henneman, Peter, Hilton, Sarah, Hilton, Benjamin A., Jenkinson, Sarah, Lee, Jennifer A., Louie, Raymond J., Motazacker, M. Mahdi, Rzasa, Jessica, Stevenson, Roger E., Plomp, Astrid, van der Laan, Liselot, van der Smagt, Jasper, Walden, Kellie K., Banka, Siddharth, Mannens, Marcel, Skinner, Steven A., Friez, Michael J., Campbell, Christopher, Tedder, Matthew L., Alders, Marielle, Sadikovic, Bekim

URL: https://doi.org/10.1016/j.gim.2024.101075
http://hdl.handle.net/1874/454571
https://dspace.library.uu.nl/handle/1874/454571
http://www.scopus.com/inward/record.url?scp=85185144065&partnerID=8YFLogxK
1098-3600
Genetics in Medicine
26
5
101075

المؤلفون: Dingemans, Alexander J.M., Truijen, Kim M.G., van de Ven, Sam, Bernier, Raphael, Bongers, Ernie M.H.F., Bouman, Arjan, de Graaff – Herder, Laura, Eichler, Evan E., Gerkes, Erica H., De Geus, Christa M., van Hagen, Johanna M., Jansen, Philip R., Kerkhof, Jennifer, Kievit, Anneke J.A., Kleefstra, Tjitske, Maas, Saskia M., de Man, Stella A., McConkey, Haley, Patterson, Wesley G., Dobson, Amy T., Prijoles, Eloise J., Sadikovic, Bekim, Relator, Raissa, Stevenson, Roger E., Stumpel, Connie T.R.M., Heijligers, Malou, Stuurman, Kyra E., Löhner, Katharina, Zeidler, Shimriet, Lee, Jennifer A., Lindy, Amanda, Zou, Fanggeng, Tedder, Matthew L., Vissers, Lisenka E.L.M., de Vries, Bert B.A.

المصدر: Dingemans , A J M , Truijen , K M G , van de Ven , S , Bernier , R , Bongers , E M H F , Bouman , A , de Graaff – Herder , L , Eichler , E E , Gerkes , E H , De Geus , C M , van Hagen , J M , Jansen , P R , Kerkhof , J , Kievit , A J A , Kleefstra , T , Maas , S M , de Man , S A , McConkey , H , Patterson , W ....

الاتاحة: https://research.vu.nl/en/publications/94642a93-a0ec-4860-bb87-63ae494b1ac7
https://doi.org/10.1038/s41398-022-02189-1
https://hdl.handle.net/1871.1/94642a93-a0ec-4860-bb87-63ae494b1ac7
http://www.scopus.com/inward/record.url?scp=85139089412&partnerID=8YFLogxK
http://www.scopus.com/inward/citedby.url?scp=85139089412&partnerID=8YFLogxK

المؤلفون: Küry, Sébastien, Zhang, Jinwei, Besnard, Thomas, Caro-Llopis, Alfonso, Zeng, Xue, Robert, Stephanie M, Josiah, Sunday S, Kiziltug, Emre, Denommé-Pichon, Anne-Sophie, Cogné, Benjamin, Kundishora, Adam J, Hao, Le T, Li, Hong, Stevenson, Roger E, Louie, Raymond J, Deb, Wallid, Torti, Erin, Vignard, Virginie, McWalter, Kirsty, Raymond, F Lucy, Rajabi, Farrah, Ranza, Emmanuelle, Grozeva, Detelina, Coury, Stephanie A, Blanc, Xavier, Brischoux-Boucher, Elise, Keren, Boris, Õunap, Katrin, Reinson, Karit, Ilves, Pilvi, Wentzensen, Ingrid M, Barr, Eileen E, Guihard, Solveig Heide, Charles, Perrine, Seaby, Eleanor G, Monaghan, Kristin G, Rio, Marlène, van Bever, Yolande, van Slegtenhorst, Marjon, Chung, Wendy K, Wilson, Ashley, Quinquis, Delphine, Bréhéret, Flora, Retterer, Kyle, Lindenbaum, Pierre, Scalais, Emmanuel, Rhodes, Lindsay, Stouffs, Katrien, Pereira, Elaine M, Berger, Sara M, Milla, Sarah S, Jaykumar, Ankita B, Cobb, Melanie H, Panchagnula, Shreyas, Duy, Phan Q, Vincent, Marie, Mercier, Sandra, Gilbert-Dussardier, Brigitte, Le Guillou, Xavier, Audebert-Bellanger, Séverine, Odent, Sylvie, Schmitt, Sébastien, Boisseau, Pierre, Bonneau, Dominique, Toutain, Annick, Colin, Estelle, Pasquier, Laurent, Redon, Richard, Bouman, Arjan, Rosenfeld, Jill A, Friez, Michael J, Pérez-Peña, Helena, Akhtar Rizvi, Syed Raza, Haider, Shozeb, Antonarakis, Stylianos E, Schwartz, Charles E, Martínez, Francisco, Bézieau, Stéphane, Kahle, Kristopher T, Isidor, Bertrand

وصف الملف: text; spreadsheet; image

Relation: https://eprints.soton.ac.uk/469160/1/K_ry_GIM_WNK3_Main_text_Clean_07_05_2022.pdf; https://eprints.soton.ac.uk/469160/2/Final_version_May_2022_K_ry_GIM_Table_S1_23_03_2022.xlsx; https://eprints.soton.ac.uk/469160/3/Final_version_May_2022_K_ry_GIM_Table_S2_10_12_2021.xlsx; https://eprints.soton.ac.uk/469160/4/Final_version_May_2022_K_ry_GIM_WNK3_Supplementary_Figures_03_03_2022_1_.pdf; https://eprints.soton.ac.uk/469160/5/Final_version_May_2022_K_ry_GIM_WNK3_Figure_1_22_11_2021.tif; https://eprints.soton.ac.uk/469160/6/Final_version_May_2022_K_ry_GIM_WNK3_Figure_2_08_11_2021.pdf; Küry, Sébastien, Zhang, Jinwei, Besnard, Thomas, Caro-Llopis, Alfonso, Zeng, Xue, Robert, Stephanie M, Josiah, Sunday S, Kiziltug, Emre, Denommé-Pichon, Anne-Sophie, Cogné, Benjamin, Kundishora, Adam J, Hao, Le T, Li, Hong, Stevenson, Roger E, Louie, Raymond J, Deb, Wallid, Torti, Erin, Vignard, Virginie, McWalter, Kirsty, Raymond, F Lucy, Rajabi, Farrah, Ranza, Emmanuelle, Grozeva, Detelina, Coury, Stephanie A, Blanc, Xavier, Brischoux-Boucher, Elise, Keren, Boris, Õunap, Katrin, Reinson, Karit, Ilves, Pilvi, Wentzensen, Ingrid M, Barr, Eileen E, Guihard, Solveig Heide, Charles, Perrine, Seaby, Eleanor G, Monaghan, Kristin G, Rio, Marlène, van Bever, Yolande, van Slegtenhorst, Marjon, Chung, Wendy K, Wilson, Ashley, Quinquis, Delphine, Bréhéret, Flora, Retterer, Kyle, Lindenbaum, Pierre, Scalais, Emmanuel, Rhodes, Lindsay, Stouffs, Katrien, Pereira, Elaine M, Berger, Sara M, Milla, Sarah S, Jaykumar, Ankita B, Cobb, Melanie H, Panchagnula, Shreyas, Duy, Phan Q, Vincent, Marie, Mercier, Sandra, Gilbert-Dussardier, Brigitte, Le Guillou, Xavier, Audebert-Bellanger, Séverine, Odent, Sylvie, Schmitt, Sébastien, Boisseau, Pierre, Bonneau, Dominique, Toutain, Annick, Colin, Estelle, Pasquier, Laurent, Redon, Richard, Bouman, Arjan, Rosenfeld, Jill A, Friez, Michael J, Pérez-Peña, Helena, Akhtar Rizvi, Syed Raza, Haider, Shozeb, Antonarakis, Stylianos E, Schwartz, Charles E, Martínez, Francisco, Bézieau, Stéphane, Kahle, Kristopher T and Isidor, Bertrand (2022) Rare pathogenic variants in WNK3 cause X-linked intellectual disability. Genetics in Medicine, 24 (9), 1941-1951. (doi:10.1016/j.gim.2022.05.009 ).

الاتاحة: https://eprints.soton.ac.uk/469160/
https://eprints.soton.ac.uk/469160/1/K_ry_GIM_WNK3_Main_text_Clean_07_05_2022.pdf
https://eprints.soton.ac.uk/469160/2/Final_version_May_2022_K_ry_GIM_Table_S1_23_03_2022.xlsx
https://eprints.soton.ac.uk/469160/3/Final_version_May_2022_K_ry_GIM_Table_S2_10_12_2021.xlsx
https://eprints.soton.ac.uk/469160/4/Final_version_May_2022_K_ry_GIM_WNK3_Supplementary_Figures_03_03_2022_1_.pdf
https://eprints.soton.ac.uk/469160/5/Final_version_May_2022_K_ry_GIM_WNK3_Figure_1_22_11_2021.tif
https://eprints.soton.ac.uk/469160/6/Final_version_May_2022_K_ry_GIM_WNK3_Figure_2_08_11_2021.pdf

المؤلفون: Levy, Michael A, McConkey, Haley, Kerkhof, Jennifer, Barat-Houari, Mouna, Bargiacchi, Sara, Biamino, Elisa, Bralo, María Palomares, Cappuccio, Gerarda, Ciolfi, Andrea, Clarke, Angus, DuPont, Barbara R, Elting, Mariet W, Faivre, Laurence, Fee, Timothy, Fletcher, Robin S, Cherik, Florian, Foroutan, Aidin, Friez, Michael J, Gervasini, Cristina, Haghshenas, Sadegheh, Hilton, Benjamin A, Jenkins, Zandra, Kaur, Simranpreet, Lewis, Suzanne, Louie, Raymond J, Maitz, Silvia, Milani, Donatella, Morgan, Angela T, Oegema, Renske, Østergaard, Elsebet, Pallares, Nathalie Ruiz, Piccione, Maria, Pizzi, Simone, Plomp, Astrid S, Poulton, Cathryn, Reilly, Jack, Relator, Raissa, Rius, Rocio, Robertson, Stephen, Rooney, Kathleen, Rousseau, Justine, Santen, Gijs W E, Santos-Simarro, Fernando, Schijns, Josephine, Squeo, Gabriella Maria, St John, Miya, Thauvin-Robinet, Christel, Traficante, Giovanna, van der Sluijs, Pleuntje J, Vergano, Samantha A, Vos, Niels, Walden, Kellie K, Azmanov, Dimitar, Balci, Tugce, Banka, Siddharth, Gecz, Jozef, Henneman, Peter, Lee, Jennifer A, Mannens, Marcel M A M, Roscioli, Tony, Siu, Victoria, Amor, David J, Baynam, Gareth, Bend, Eric G, Boycott, Kym, Brunetti-Pierri, Nicola, Campeau, Philippe M, Christodoulou, John, Dyment, David, Esber, Natacha, Fahrner, Jill A, Fleming, Mark D, Genevieve, David, Kerrnohan, Kristin D, McNeill, Alisdair, Menke, Leonie A, Merla, Giuseppe, Prontera, Paolo, Rockman-Greenberg, Cheryl, Schwartz, Charles, Skinner, Steven A, Stevenson, Roger E, Vitobello, Antonio, Tartaglia, Marco, Alders, Marielle, Tedder, Matthew L, Sadikovic, Bekim

المساهمون: M.A. Levy, H. Mcconkey, J. Kerkhof, M. Barat-Houari, S. Bargiacchi, E. Biamino, M.P. Bralo, G. Cappuccio, A. Ciolfi, A. Clarke, B.R. Dupont, M.W. Elting, L. Faivre, T. Fee, R.S. Fletcher, F. Cherik, A. Foroutan, M.J. Friez, C. Gervasini, S. Haghshena, B.A. Hilton, Z. Jenkin, S. Kaur, S. Lewi, R.J. Louie, S. Maitz, D. Milani, A.T. Morgan, R. Oegema, E. Østergaard, N.R. Pallare, M. Piccione, S. Pizzi, A.S. Plomp, C. Poulton, J. Reilly, R. Relator, R. Riu, S. Robertson, K. Rooney, J. Rousseau, G.W.E. Santen, F. Santos-Simarro, J. Schijn, G.M. Squeo, M. St John, C. Thauvin-Robinet, G. Traficante, P.J. van der Sluij, S.A. Vergano, N. Vo, K.K. Walden, D. Azmanov, T. Balci, S. Banka, J. Gecz, P. Henneman, J.A. Lee, M.M.A.M. Mannen, T. Roscioli, V. Siu, D.J. Amor, G. Baynam, E.G. Bend, K. Boycott, N. Brunetti-Pierri, P.M. Campeau, J. Christodoulou, D. Dyment, N. Esber, J.A. Fahrner, M.D. Fleming, D. Genevieve, K.D. Kerrnohan, A. Mcneill, L.A. Menke, G. Merla, P. Prontera, C. Rockman-Greenberg, C. Schwartz, S.A. Skinner, R.E. Stevenson, A. Vitobello, M. Tartaglia, M. Alder, M.L. Tedder, B. Sadikovic

مصطلحات موضوعية: Clinical diagnostic, DNA methylation, Epigenetic, Episignature, Neurodevelopmental disorder, Settore MED/03 - Genetica Medica

Relation: info:eu-repo/semantics/altIdentifier/pmid/35047860; info:eu-repo/semantics/altIdentifier/wos/WOS:000787652900021; volume:3; issue:1; firstpage:1; lastpage:18; numberofpages:18; journal:HGG ADVANCES; http://hdl.handle.net/2434/912301; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85128406827

الاتاحة: http://hdl.handle.net/2434/912301
https://doi.org/10.1016/j.xhgg.2021.100075

المؤلفون: Levy, Michael A., Relator, Raissa, McConkey, Haley, Pranckeviciene, Erinija, Kerkhof, Jennifer, Barat-Houari, Mouna, Bargiacchi, Sara, Biamino, Elisa, Palomares Bralo, María, Cappuccio, Gerarda, Ciolfi, Andrea, Clarke, Angus, DuPont, Barbara R., Elting, Mariet W., Faivre, Laurence, Fee, Timothy, Ferilli, Marco, Fletcher, Robin S., Cherick, Florian, Foroutan, Aidin, Friez, Michael J., Gervasini, Cristina, Haghshenas, Sadegheh, Hilton, Benjamin A., Jenkins, Zandra, Kaur, Simranpreet, Lewis, Suzanne, Louie, Raymond J., Maitz, Silvia, Milani, Donatella, Morgan, Angela T., Oegema, Renske, Østergaard, Elsebet, Pallares, Nathalie R., Piccione, Maria, Plomp, Astrid S., Poulton, Cathryn, Reilly, Jack, Rius, Rocio, Robertson, Stephen, Rooney, Kathleen, Rousseau, Justine, Santen, Gijs W.E., Santos-Simarro, Fernando, Schijns, Josephine, Squeo, Gabriella M., John, Miya St, Thauvin-Robinet, Christel, Traficante, Giovanna, van der Sluijs, Pleuntje J., Vergano, Samantha A., Vos, Niels, Walden, Kellie K., Azmanov, Dimitar, Balci, Tugce B., Banka, Siddharth, Gecz, Jozef, Henneman, Peter, Lee, Jennifer A., Mannens, Marcel M.A.M., Roscioli, Tony, Siu, Victoria, Amor, David J., Baynam, Gareth, Bend, Eric G., Boycott, Kym, Brunetti-Pierri, Nicola, Campeau, Philippe M., Campion, Dominique, Christodoulou, John, Dyment, David, Esber, Natacha, Fahrner, Jill A., Fleming, Mark D., Genevieve, David, Heron, Delphine, Husson, Thomas, Kernohan, Kristin D., McNeill, Alisdair, Menke, Leonie A., Merla, Giuseppe, Prontera, Paolo, Rockman-Greenberg, Cheryl, Schwartz, Charles, Skinner, Steven A., Stevenson, Roger E., Vincent, Marie, Vitobello, Antonio, Tartaglia, Marco, Alders, Marielle, Tedder, Matthew L., Sadikovic, Bekim

المصدر: Levy , M A , Relator , R , McConkey , H , Pranckeviciene , E , Kerkhof , J , Barat-Houari , M , Bargiacchi , S , Biamino , E , Palomares Bralo , M , Cappuccio , G , Ciolfi , A , Clarke , A , DuPont , B R , Elting , M W , Faivre , L , Fee , T , Ferilli , M , Fletcher , R S , Cherick , F , Foroutan , A , Friez , M J , Gervasini , C , Haghshenas , S , Hilton ....

مصطلحات موضوعية: clinical diagnostics, DNA methylation, episignatures, neurodevelopmental syndromes

وصف الملف: application/pdf

الاتاحة: https://researchprofiles.ku.dk/da/publications/functional-correlation-of-genomewide-dna-methylation-profiles-in-genetic-neurodevelopmental-disorders(4095f726-4649-4ec8-9b22-32e80c2d51ff).html
https://doi.org/10.1002/humu.24446
https://curis.ku.dk/ws/files/379174784/533427563_2_29.pdf

المؤلفون: Kerkhof, Jennifer, Rastin, Cassandra, Levy, Michael A., Relator, Raissa, McConkey, Haley, Demain, Leigh, Dominguez-Garrido, Elena, Kaat, Laura Donker, Houge, Sofia Douzgou, DuPont, Barbara R., Fee, Timothy, Fletcher, Robin S., Gokhale, David, Haukanes, Bjørn Ivar, Henneman, Peter, Hilton, Sarah, Hilton, Benjamin A., Jenkinson, Sarah, Lee, Jennifer A., Louie, Raymond J., Motazacker, M. Mahdi, Rzasa, Jessica, Stevenson, Roger E., Plomp, Astrid, van der Laan, Liselot, van der Smagt, Jasper, Walden, Kellie K., Banka, Siddharth, Mannens, Marcel, Skinner, Steven A., Friez, Michael J., Campbell, Christopher, Tedder, Matthew L., Alders, Marielle, Sadikovic, Bekim

المصدر: Kerkhof , J , Rastin , C , Levy , M A , Relator , R , McConkey , H , Demain , L , Dominguez-Garrido , E , Kaat , L D , Houge , S D , DuPont , B R , Fee , T , Fletcher , R S , Gokhale , D , Haukanes , B I , Henneman , P , Hilton , S , Hilton , B A , Jenkinson , S , Lee , J A , Louie , R J , Motazacker , M M , Rzasa , J , Stevenson ....

الاتاحة: https://pure.eur.nl/en/publications/72c08e18-348a-45b9-b49a-0cd53e2aac7f
https://doi.org/10.1016/j.gim.2024.101075
http://www.scopus.com/inward/record.url?scp=85185144065&partnerID=8YFLogxK

المؤلفون: Schwartz, Charles E., Aylsworth, Arthur S., Allanson, Judith, Battaglia, Agatino, Carey, John C., Curry, Cynthia J., Davies, Kay E., Eichler, Evan E., Graham Jr, John M., Hall, Bryan, Hall, Judith G., Holmes, Lewis B., Hoyme, H. Eugene, Hunter, Alasdair, Innis, Jeffrey, Johnson, John, Keppler-Noreuil, Kim M., Leroy, Jules G., Moore, Cynthia, Nelson, David L., Neri, Giovanni, Opitz, John M., Picketts, David, Raymond, F. Lucy, Shalev, Stavit Allon, Stevenson, Roger E., Stumpel, Connie T. R. M., Sutherland, Grant, Viskochil, David H., Weaver, David D., Zackai, Elaine H.

المصدر: Schwartz , C E , Aylsworth , A S , Allanson , J , Battaglia , A , Carey , J C , Curry , C J , Davies , K E , Eichler , E E , Graham Jr , J M , Hall , B , Hall , J G , Holmes , L B , Hoyme , H E , Hunter , A , Innis , J , Johnson , J , Keppler-Noreuil , K M , Leroy , J G , Moore , C , Nelson , D L , Neri , G , Opitz ....

مصطلحات موضوعية: dysmorphology, genetics, medical genetics, memoir

Relation: https://cris.maastrichtuniversity.nl/en/publications/4bb5737f-b4ab-4bd5-ab93-f825e0fd5dfd

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/4bb5737f-b4ab-4bd5-ab93-f825e0fd5dfd
https://doi.org/10.1002/ajmg.a.63514

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: Vong, Keng Ioi, Lee, Sangmoon, Au, Kit Sing, Crowley, T. Blaine, Capra, Valeria, Martino, Jeremiah, Haller, Meade, Araújo, Camila, Machado, Hélio R., George, Renee, Gerding, Bryn, James, Kiely N., Stanley, Valentina, Jiang, Nan, Alu, Kameron, Meave, Naomi, Nidhiry, Anna S., Jiwani, Fiza, Tang, Isaac, Nisal, Ashna, Jhamb, Ishani, Patel, Arzoo, Patel, Aakash, McEvoy-Venneri, Jennifer, Barrows, Chelsea, Shen, Celina, Ha, Yoo-Jin, Howarth, Robyn, Strain, Madison, Ashley-Koch, Allison Elizabeth, Azam, Matloob, Mumtaz, Sara, Bot, Gyang Markus, Finnell, Richard H., Kibar, Zoha, Marwan, Ahmed I., Melikishvili, Gia, Meltzer, Hal S., Mutchinick, Osvaldo M., Stevenson, David A., Mroczkowski, Henry J., Ostrander, Betsy, Schindewolf, Erica, Moldenhauer, Julie, Zackai, Elaine H., Emanuel, Beverly S., Garcia-Minaur, Sixto, Nowakowska, Beata A., Stevenson, Roger E., Zaki, Maha S.

المصدر: Science ; volume 384, issue 6695, page 584-590 ; ISSN 0036-8075 1095-9203

الاتاحة: http://dx.doi.org/10.1126/science.adl1624
https://www.science.org/doi/pdf/10.1126/science.adl1624

المؤلفون: Levy, Michael A., Beck, David B., Metcalfe, Kay, Douzgou, Sofia, Sithambaram, Sivagamy, Cottrell, Trudie, Ansar, Muhammad, Kerkhof, Jennifer, Mignot, Cyril, Nougues, Marie-Christine, Keren, Boris, Moore, Hannah W., Oegema, Renske, Giltay, Jacques C., Simon, Marleen, van Jaarsveld, Richard H., Bos, Jessica, van Haelst, Mieke, Motazacker, M. Mahdi, Boon, Elles M. J., Santen, Gijs W. E., Ruivenkamp, Claudia A. L., Alders, Marielle, Luperchio, Teresa Romeo, Boukas, Leandros, Ramsey, Keri, Narayanan, Vinodh, Schaefer, G. Bradley, Bonasio, Roberto, Doheny, Kimberly F., Stevenson, Roger E., Banka, Siddharth, Sadikovic, Bekim, Fahrner, Jill A.

المصدر: Levy , M A , Beck , D B , Metcalfe , K , Douzgou , S , Sithambaram , S , Cottrell , T , Ansar , M , Kerkhof , J , Mignot , C , Nougues , M-C , Keren , B , Moore , H W , Oegema , R , Giltay , J C , Simon , M , van Jaarsveld , R H , Bos , J , van Haelst , M , Motazacker , M M , Boon , E M J , Santen , G W E , Ruivenkamp , C ....

الاتاحة: https://research.vumc.nl/en/publications/4a50861a-3771-41f2-a0eb-e69bc63756c7
https://doi.org/10.1038/s41525-021-00269-7
http://www.scopus.com/inward/record.url?scp=85119883139&partnerID=8YFLogxK

المؤلفون: Sadikovic, Bekim, Levi, Michael A., Kerkhof, Jennifer, Aref-Eshghi, Erfan, Schenkel, Laila, Stuart, Alan, McConkey, Haley, Henneman, Peter, Venema, Andrea, Schwartz, Charles E., Stevenson, Roger E., Skinner, Steven A., DuPont, Barbara R., Fletcher, Robin S., Balci, Tugce B., Siu, Victoria Mok, Granadillo, Jorge L., Masters, Jennefer, Kadour, Mike, Friez, Michael J., van Haelst, Mieke M., Mannens, Marcel M.A.M., Louie, Raymond J., Lee, Jennifer A., Tedder, Matthew L., Alders, Marielle

المصدر: Sadikovic , B , Levi , M A , Kerkhof , J , Aref-Eshghi , E , Schenkel , L , Stuart , A , McConkey , H , Henneman , P , Venema , A , Schwartz , C E , Stevenson , R E , Skinner , S A , DuPont , B R , Fletcher , R S , Balci , T B , Siu , V M , Granadillo , J L , Masters , J , Kadour , M , Friez , M J , van Haelst , M M , Mannens , M ....

الاتاحة: https://research.vumc.nl/en/publications/86dcec88-29b4-4d1c-af83-f94133deb8ea
https://doi.org/10.1038/s41436-020-01096-4
http://www.scopus.com/inward/record.url?scp=85100548502&partnerID=8YFLogxK

المؤلفون: Levy, Michael A., Beck, David B., Metcalfe, Kay, Douzgou, Sofia, Sithambaram, Sivagamy, Cottrell, Trudie, Ansar, Muhammad, Kerkhof, Jennifer, Mignot, Cyril, Nougues, Marie-Christine, Keren, Boris, Moore, Hannah W., Oegema, Renske, Giltay, Jacques C., Simon, Marleen, van Jaarsveld, Richard H., Bos, Jessica, van Haelst, Mieke, Motazacker, M. Mahdi, Boon, Elles M. J., Santen, Gijs W. E., Ruivenkamp, Claudia A. L., Alders, Marielle, Luperchio, Teresa Romeo, Boukas, Leandros, Ramsey, Keri, Narayanan, Vinodh, Schaefer, G. Bradley, Bonasio, Roberto, Doheny, Kimberly F., Stevenson, Roger E., Banka, Sidharth, Sadikovic, Bekim, Fahrner, Jill A.

المصدر: Levy , M A , Beck , D B , Metcalfe , K , Douzgou , S , Sithambaram , S , Cottrell , T , Ansar , M , Kerkhof , J , Mignot , C , Nougues , M-C , Keren , B , Moore , H W , Oegema , R , Giltay , J C , Simon , M , van Jaarsveld , R H , Bos , J , van Haelst , M , Motazacker , M M , Boon , E M J , Santen , G W E , Ruivenkamp , C ....

الاتاحة: https://research.vumc.nl/en/publications/53bb636a-2355-45ca-8f3a-8b9edabab3b8
https://doi.org/10.1038/s41525-021-00256-y
http://www.scopus.com/inward/record.url?scp=85118605518&partnerID=8YFLogxK

المؤلفون: Sadikovic, Bekim, Levy, Michael A., Kerkhof, Jennifer, Aref-Eshghi, Erfan, Schenkel, Laila, Stuart, Alan, McConkey, Haley, Henneman, Peter, Venema, Andrea, Schwartz, Charles E., Stevenson, Roger E., Skinner, Steven A., DuPont, Barbara R., Fletcher, Robin S., Balci, Tugce B., Siu, Victoria Mok, Granadillo, Jorge L., Masters, Jennefer, Kadour, Mike, Friez, Michael J., van Haelst, Mieke M., Mannens, Marcel M.A.M., Louie, Raymond J., Lee, Jennifer A., Tedder, Matthew L., Alders, Marielle

المصدر: Sadikovic , B , Levy , M A , Kerkhof , J , Aref-Eshghi , E , Schenkel , L , Stuart , A , McConkey , H , Henneman , P , Venema , A , Schwartz , C E , Stevenson , R E , Skinner , S A , DuPont , B R , Fletcher , R S , Balci , T B , Siu , V M , Granadillo , J L , Masters , J , Kadour , M , Friez , M J , van Haelst , M M , Mannens , M ....

Relation: https://research.vumc.nl/en/publications/8e6b35ca-68cc-48af-b3bc-c76a81c621e5

الاتاحة: https://research.vumc.nl/en/publications/8e6b35ca-68cc-48af-b3bc-c76a81c621e5
https://doi.org/10.1038/s41436-021-01130-z
http://www.scopus.com/inward/record.url?scp=85101735206&partnerID=8YFLogxK