المؤلفون: Fountain, Michael D, Oleson, David S, Rech, Megan E, Segebrecht, Lara, Hunter, Jill V, McCarthy, John M, Lupo, Philip J, Holtgrewe, Manuel, Moran, Rocio, Rosenfeld, Jill A, Isidor, Bertrand, Le Caignec, Cédric, Saenz, Margarita S, Pedersen, Robert C, Morgan, Thomas M, Pfotenhauer, Jean P, Xia, Fan, Bi, Weimin, Kang, Sung-Hae L, Patel, Ankita, Krantz, Ian D, Raible, Sarah E, Smith, Wendy, Cristian, Ingrid, Torti, Erin, Juusola, Jane, Millan, Francisca, Wentzensen, Ingrid M, Person, Richard E, Küry, Sébastien, Bézieau, Stéphane, Uguen, Kévin, Férec, Claude, Munnich, Arnold, van Haelst, Mieke, Lichtenbelt, Klaske D, van Gassen, Koen, Hagelstrom, Tanner, Chawla, Aditi, Perry, Denise L, Taft, Ryan J, Jones, Marilyn, Masser-Frye, Diane, Dyment, David, Venkateswaran, Sunita, Li, Chumei, Escobar, Luis F, Horn, Denise, Spillmann, Rebecca C, Peña, Loren, Wierzba, Jolanta, Strom, Tim M, Parenti, Ilaria, Kaiser, Frank J, Ehmke, Nadja, Schaaf, Christian P

المصدر: Genetics in Medicine. 21(8)

مصطلحات موضوعية: Biological Sciences, Genetics, Brain Disorders, Neurosciences, Behavioral and Social Science, Clinical Research, Pediatric, Congenital Structural Anomalies, Intellectual and Developmental Disabilities (IDD), Mental Health, Autism, Aetiology, 2.1 Biological and endogenous factors, Mental health, Adolescent, Autism Spectrum Disorder, Child, Child, Preschool, Chromosome Deletion, DNA-Binding Proteins, Genome, Human, Haploinsufficiency, Humans, Infant, Infant, Newborn, Intellectual Disability, Language Development Disorders, Neurodevelopmental Disorders, Nuclear Proteins, Phenotype, Problem Behavior, Proteins, Exome Sequencing, USP7, neurodevelopment, speech delay, white matter paucity, corpus callosum thinning, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0h47s4s0

المؤلفون: Patterson, Victoria, Ullah, Farid, Bryant, Laura, Griffin, John N, Sidhu, Alpa, Saliganan, Sheila, Blaile, Mackenzie, Saenz, Margarita S, Smith, Rosemarie, Ellingwood, Sara, Grange, Dorothy K, Hu, Xuyun, Mireguli, Maimaiti, Luo, Yanfei, Shen, Yiping, Mulhern, Maureen, Zackai, Elaine, Ritter, Alyssa, Izumi, Kosaki, Hoefele, Julia, Wagner, Matias, Riedhammer, Korbinian M, Seitz, Barbara, Robin, Nathaniel H, Goodloe, Dana, Mignot, Cyril, Keren, Boris, Cox, Helen, Jarvis, Joanna, Hempel, Maja, Gibson, Cynthia Forster, Tran Mau-Them, Frederic, Vitobello, Antonio, Bruel, Ange-Line, Sorlin, Arthur, Mehta, Sarju, Raymond, F Lucy, Gilmore, Kelly, Powell, Bradford C, Weck, Karen, Li, Chumei, Vulto-van Silfhout, Anneke T, Giacomini, Thea, Mancardi, Maria Margherita, Accogli, Andrea, Salpietro, Vincenzo, Zara, Federico, Vora, Neeta L, Davis, Erica E, Burdine, Rebecca, Bhoj, Elizabeth

المصدر: nlmid: 101653440 ; essn: 2375-2548

مصطلحات موضوعية: Animals, Humans, Zebrafish, Signal Transduction, Protein Serine-Threonine Kinases, Intracellular Signaling Peptides and Proteins

وصف الملف: application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/349629

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/349629

المؤلفون: Tessadori, Federico, Duran, Karen, Knapp, Karen, Fellner, Matthias, Smithson, Sarah, Beleza‐Meireles, Ana, Elting, Mariet W, Waisfisz, Quinten, O'Donnell-Luria, Anne, Nowak, Catherine, Douglas, Jessica, Ronan, Anne, Brunet, Theresa, Kotzaeridou, Urania, Svihovec, Shayna, Saenz, Margarita S, Thiffault, Isabelle, Del Viso, Florencia, Devine, Patrick, Rego, Shannon, Tenney, Jessica, Ruivenkamp, Claudia AL, Koene, Saskia, Robertson, Stephen P., Deshpande, Charulata, Pfundt, Rolph, Verbeek, Nienke, van de Kamp, Jiddeke M., Weiss, Janneke M M, Ruiz, Anna, Gabau, Elisabeth, Banne, Ehud, Pepler, Alexander, Bottani, Armand, Laurant, Sacha, Guipponi, Michel, Bijlsma, Emilia, Bruel, Ange-Line, Sorlin, Arthur, Willis, Mary, Powis, Zoe, Smol, Thomas, Vincent-Delorme, Catherine, Baralle, Diana, Colin, Estelle, Revencu, Nicole, Calpena, Eduardo, Wilkie, Andrew O.M., Chopra, Maya, Cormier-Daire, Valérie, Keren, Boris, Afenjar, Alexandra, Niceta, Marcello, Terracciano, A., Specchio, Nicola, Tartaglia, M., Rio, Marlene, Barcia, Giulia, Rondeau, sophie, Colson, Cindy, Bakkers, Jeroen, Mace, Peter D, Bicknell, Louise S., van Haaften, Gijs

وصف الملف: text; spreadsheet

Relation: https://eprints.soton.ac.uk/454960/1/AJHG_D_21_00815_R2_accepted.pdf; https://eprints.soton.ac.uk/454960/2/Table_S1.xlsx; https://eprints.soton.ac.uk/454960/3/1_s2.0_S0002929722000544_main.pdf; Tessadori, Federico, Duran, Karen, Knapp, Karen, Fellner, Matthias, Smithson, Sarah, Beleza‐Meireles, Ana, Elting, Mariet W, Waisfisz, Quinten, O'Donnell-Luria, Anne, Nowak, Catherine, Douglas, Jessica, Ronan, Anne, Brunet, Theresa, Kotzaeridou, Urania, Svihovec, Shayna, Saenz, Margarita S, Thiffault, Isabelle, Del Viso, Florencia, Devine, Patrick, Rego, Shannon, Tenney, Jessica, Ruivenkamp, Claudia AL, Koene, Saskia, Robertson, Stephen P., Deshpande, Charulata, Pfundt, Rolph, Verbeek, Nienke, van de Kamp, Jiddeke M., Weiss, Janneke M M, Ruiz, Anna, Gabau, Elisabeth, Banne, Ehud, Pepler, Alexander, Bottani, Armand, Laurant, Sacha, Guipponi, Michel, Bijlsma, Emilia, Bruel, Ange-Line, Sorlin, Arthur, Willis, Mary, Powis, Zoe, Smol, Thomas, Vincent-Delorme, Catherine, Baralle, Diana, Colin, Estelle, Revencu, Nicole, Calpena, Eduardo, Wilkie, Andrew O.M., Chopra, Maya, Cormier-Daire, Valérie, Keren, Boris, Afenjar, Alexandra, Niceta, Marcello, Terracciano, A., Specchio, Nicola, Tartaglia, M., Rio, Marlene, Barcia, Giulia, Rondeau, sophie, Colson, Cindy, Bakkers, Jeroen, Mace, Peter D, Bicknell, Louise S. and van Haaften, Gijs (2022) Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome. The American Journal of Human Genetics, 109 (4), 750-758. (doi:10.1016/j.ajhg.2022.02.003 ).

الاتاحة: https://eprints.soton.ac.uk/454960/
https://eprints.soton.ac.uk/454960/1/AJHG_D_21_00815_R2_accepted.pdf
https://eprints.soton.ac.uk/454960/2/Table_S1.xlsx
https://eprints.soton.ac.uk/454960/3/1_s2.0_S0002929722000544_main.pdf

المؤلفون: Kojic, Marija, Gawda, Tomasz, Gaik, Monika, Begg, Alexander, Salerno-Kochan, Anna, Kurniawan, Nyoman D., Jones, Alun, Drożdżyk, Katarzyna, Kościelniak, Anna, Chramiec-Głąbik, Andrzej, Hediyeh-Zadeh, Soroor, Kasherman, Maria, Shim, Woo Jun, Sinniah, Enakshi, Genovesi, Laura A., Abrahamsen, Rannvá K., Fenger, Christina D., Madsen, Camilla G., Cohen, Julie S., Fatemi, Ali, Stark, Zornitza, Lunke, Sebastian, Lee, Joy, Hansen, Jonas K., Boxill, Martin F., Keren, Boris, Marey, Isabelle, Saenz, Margarita S., Brown, Kathleen, Alexander, Suzanne A., Mureev, Sergey, Batzilla, Alina, Davis, Melissa J., Piper, Michael, Bodén, Mikael, Burne, Thomas H.J., Palpant, Nathan J., Møller, Rikke S., Glatt, Sebastian, Wainwright, Brandon J.

المصدر: Nature Communications

وصف الملف: application/pdf

Relation: https://eprints.qut.edu.au/229872/1/108406423.pdf; Kojic, Marija, Gawda, Tomasz, Gaik, Monika, Begg, Alexander, Salerno-Kochan, Anna, Kurniawan, Nyoman D., Jones, Alun, Drożdżyk, Katarzyna, Kościelniak, Anna, Chramiec-Głąbik, Andrzej, Hediyeh-Zadeh, Soroor, Kasherman, Maria, Shim, Woo Jun, Sinniah, Enakshi, Genovesi, Laura A., Abrahamsen, Rannvá K., Fenger, Christina D., Madsen, Camilla G., Cohen, Julie S., Fatemi, Ali, Stark, Zornitza, Lunke, Sebastian, Lee, Joy, Hansen, Jonas K., Boxill, Martin F., Keren, Boris, Marey, Isabelle, Saenz, Margarita S., Brown, Kathleen, Alexander, Suzanne A., Mureev, Sergey, Batzilla, Alina, Davis, Melissa J., Piper, Michael, Bodén, Mikael, Burne, Thomas H.J., Palpant, Nathan J., Møller, Rikke S., Glatt, Sebastian, & Wainwright, Brandon J. (2021) Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype. Nature Communications, 12, Article number: 2678.; http://purl.org/au-research/grants/nhmrc/1113531; https://eprints.qut.edu.au/229872/; Faculty of Science; School of Biology & Environmental Science

الاتاحة: https://eprints.qut.edu.au/229872/

المؤلفون: Fountain, Michael D., Oleson, David S., Rech, Megan E., Segebrecht, Lara, Hunter, Jill V., McCarthy, John M., Lupo, Philip J., Holtgrewe, Manuel, Moran, Rocio, Rosenfeld, Jill A., Isidor, Bertrand, le Caignec, C. dric, Saenz, Margarita S., Pedersen, Robert C., Morgan, Thomas M., Pfotenhauer, Jean P., Xia, Fan, Bi, Weimin, Kang, Sung-Hae L., Patel, Ankita, Krantz, Ian D., Raible, Sarah E., Smith, Wendy, Cristian, Ingrid, Torti, Erin, Juusola, Jane, Millan, Francisca, Wentzensen, Ingrid M., Person, Richard E., Küry, S. bastien, Bézieau, Stéphane, Uguen, K. vin, Férec, Claude, Munnich, Arnold, van Haelst, Mieke, Lichtenbelt, Klaske D., van Gassen, Koen, Hagelstrom, Tanner, Chawla, Aditi, Perry, Denise L., Taft, Ryan J., Jones, Marilyn, Masser-Frye, Diane, Dyment, David, Venkateswaran, Sunita, Li, Chumei, Escobar, Luis F., Horn, Denise, Spillmann, Rebecca C., Peña, Loren, Wierzba, Jolanta, Strom, Tim M., Parenti, Ilaria, Kaiser, Frank J., Ehmke, Nadja, Schaaf, Christian P.

المصدر: Fountain , M D , Oleson , D S , Rech , M E , Segebrecht , L , Hunter , J V , McCarthy , J M , Lupo , P J , Holtgrewe , M , Moran , R , Rosenfeld , J A , Isidor , B , le Caignec , C D , Saenz , M S , Pedersen , R C , Morgan , T M , Pfotenhauer , J P , Xia , F , Bi , W , Kang , S-H L , Patel , A , Krantz , I D , ....

الاتاحة: https://research.vumc.nl/en/publications/c4760739-e720-4b20-8dd1-80b90cf6cf68
https://doi.org/10.1038/s41436-019-0433-1
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85060682012&origin=inward
https://www.ncbi.nlm.nih.gov/pubmed/30679821

المؤلفون: Shelkowitz, Emily, Stence, Nicholas V., Neuberger, Ilana, Park, Kristen L., Saenz, Margarita S., Pao, Emily, Oyama, Nora, Friedman, Seth D., Shaw, Dennis W.W., Mirzaa, Ghayda M.

المصدر: Pediatric Neurology ; volume 147, page 154-162 ; ISSN 0887-8994

الاتاحة: http://dx.doi.org/10.1016/j.pediatrneurol.2023.06.015
https://api.elsevier.com/content/article/PII:S088789942300187X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S088789942300187X?httpAccept=text/plain

المؤلفون: UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Centre de malformations vasculaires congénitales, Tessadori, Federico, Duran, Karen, Knapp, Karen, Fellner, Matthias, Deciphering Developmental Disorders Study, Smithson, Sarah, Beleza Meireles, Ana, Elting, Mariet W, Waisfisz, Quinten, O'Donnell-Luria, Anne, Nowak, Catherine, Douglas, Jessica, Ronan, Anne, Brunet, Theresa, Kotzaeridou, Urania, Svihovec, Shayna, Saenz, Margarita S, Thiffault, Isabelle, Del Viso, Florencia, Devine, Patrick, Rego, Shannon, Tenney, Jessica, van Haeringen, Arie, Ruivenkamp, Claudia A L, Koene, Saskia, Robertson, Stephen P, Deshpande, Charulata, Pfundt, Rolph, Verbeek, Nienke, van de Kamp, Jiddeke M, Weiss, Janneke M M, Ruiz, Anna, Gabau, Elisabeth, Banne, Ehud, Pepler, Alexander, Bottani, Armand, Laurent, Sacha, Guipponi, Michel, Bijlsma, Emilia, Bruel, Ange-Line, Sorlin, Arthur, Willis, Mary, Powis, Zoe, Smol, Thomas, Vincent-Delorme, Catherine, Baralle, Diana, Colin, Estelle, Revencu, Nicole, Calpena, Eduardo, Wilkie, Andrew O M, Chopra, Maya, Cormier-Daire, Valerie, Keren, Boris, Afenjar, Alexandra, Niceta, Marcello, Terracciano, Alessandra, Specchio, Nicola, Tartaglia, Marco, Rio, Marlene, Barcia, Giulia, Rondeau, Sophie, Colson, Cindy, Bakkers, Jeroen, Mace, Peter D, Bicknell, Louise S, van Haaften, Gijs

المصدر: American journal of human genetics, Vol. 109, no.4, p. 750-758 (2022)

مصطلحات الفهرس: Animals, Chromatin, DNA, Histones, Humans, Syndrome, Zebrafish, histone H4, intellectual disability, microcephaly, neurodevelopmental disorder, nucleosome, zebrafish, info:eu-repo/semantics/article

URL: http://hdl.handle.net/2078.1/263802

المؤلفون: Hao, Yi-Heng, Fountain, Michael D., Fon Tacer, Klementina, Xia, Fan, Bi, Weimin, Kang, Sung-Hae L., Patel, Ankita, Rosenfeld, Jill A., Le Caignec, Cédric, Isidor, Bertrand, Krantz, Ian D., Noon, Sarah E., Pfotenhauer, Jean P., Morgan, Thomas M., Moran, Rocio, Pedersen, Robert C., Saenz, Margarita S., Schaaf, Christian P., Potts, Patrick Ryan

المصدر: Molecular Cell ; volume 59, issue 6, page 956-969 ; ISSN 1097-2765

الاتاحة: http://dx.doi.org/10.1016/j.molcel.2015.07.033
https://api.elsevier.com/content/article/PII:S1097276515006176?httpAccept=text/plain
https://api.elsevier.com/content/article/PII:S1097276515006176?httpAccept=text/xml

المؤلفون: Van Hove, Johan L K, Saenz, Margarita S, Thomas, Janet A, Gallagher, Renata C, Lovell, Mark A, Fenton, Laura Z, Shanske, Sarah, Myers, Sommer M, Wanders, Ronald J A, Ruiter, Jos, Turkenburg, Marjolein, Waterham, Hans R

المصدر: Pediatric Research ; volume 68, issue 2, page 159-164 ; ISSN 0031-3998 1530-0447

الاتاحة: http://dx.doi.org/10.1203/pdr.0b013e3181e5c3a4

المؤلفون: Cyrus, Sharri S., Cohen, Ana S. A., Agbahovbe, Ruky, Avela, Kristiina, Yeung, Kit S., Chung, Brian H. Y., Luk, Ho‐Ming, Tkachenko, Nataliya, Choufani, Sanaa, Weksberg, Rosanna, Lopez‐Rangel, Elena, Brown, Kathleen, Saenz, Margarita S., Svihovec, Shayna, McCandless, Shawn E., Bird, Lynne M., Garcia, Aixa Gonzalez, Gambello, Michael J., McWalter, Kirsty, Schnur, Rhonda E., An, Jianghong, Jones, Steven J. M., Bhalla, Sanjiv K., Pinz, Hailey, Braddock, Stephen R., Gibson, William T.

المساهمون: Canadian Institutes of Health Research

المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics ; volume 181, issue 4, page 532-547 ; ISSN 1552-4868 1552-4876

الاتاحة: http://dx.doi.org/10.1002/ajmg.c.31748
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.c.31748
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.31748
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.c.31748

المؤلفون: Genetica, UMC Utrecht, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Fountain, Michael D., Oleson, David S., Rech, Megan E., Segebrecht, Lara, Hunter, Jill V., McCarthy, John M., Lupo, Philip J., Holtgrewe, Manuel, Moran, Rocio, Rosenfeld, Jill A., Isidor, Bertrand, Le Caignec, Cédric, Saenz, Margarita S., Pedersen, Robert C., Morgan, Thomas M., Pfotenhauer, Jean P., Xia, Fan, Bi, Weimin, Kang, Sung Hae L., Patel, Ankita, Krantz, Ian D., Raible, Sarah E., Smith, Wendy, Cristian, Ingrid, Torti, Erin, Juusola, Jane, Millan, Francisca, Wentzensen, Ingrid M., Person, Richard E., Küry, Sébastien, Bézieau, Stéphane, Uguen, Kévin, Férec, Claude, Munnich, Arnold, van Haelst, Mieke, Lichtenbelt, Klaske D., van Gassen, Koen, Hagelstrom, Tanner, Chawla, Aditi, Perry, Denise L., Taft, Ryan J., Jones, Marilyn, Masser-Frye, Diane, Dyment, David, Venkateswaran, Sunita, Li, Chumei, Escobar, Luis F., Horn, Denise, Spillmann, Rebecca C., Peña, Loren, Wierzba, Jolanta, Strom, Tim M., Parenti, Ilaria, Kaiser, Frank J., Ehmke, Nadja, Schaaf, Christian P.

URL: https://doi.org/10.1038/s41436-019-0433-1
http://hdl.handle.net/1874/391977
https://dspace.library.uu.nl/handle/1874/391977
http://www.scopus.com/inward/record.url?scp=85060682012&partnerID=8YFLogxK
1098-3600
Genetics in Medicine
21
8
1797
1807

المؤلفون: Cyrus, Sharri S., Cohen, Ana S. A., Agbahovbe, Ruky, Avela, Kristiina, Yeung, Kit S., Chung, Brian H. Y., Luk, Ho‐Ming, Tkachenko, Nataliya, Choufani, Sanaa, Weksberg, Rosanna, Lopez‐Rangel, Elena, Brown, Kathleen, Saenz, Margarita S., Svihovec, Shayna, McCandless, Shawn E., Bird, Lynne M., Garcia, Aixa Gonzalez, Gambello, Michael J., McWalter, Kirsty, Schnur, Rhonda E., An, Jianghong, Jones, Steven J. M., Bhalla, Sanjiv K., Pinz, Hailey, Braddock, Stephen R., Gibson, William T.

المصدر: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics; December 2019, Vol. 181 Issue: 4 p532-547, 16p

المؤلفون: VAN HOVE, JOHAN L. K., SAENZ, MARGARITA S., THOMAS, JANET A., GALLAGHER, RENATA C., LOVELL, MARK A., FENTON, LAURA Z., SHANSKE, SARAH, MYERS, SOMMER M., WANDERS, RONALD J. A., RUITER, JOS, TURKENBURG, MARJOLEIN, WATERHAM, HANS R.

المصدر: Pediatric Research (Ovid); August 2010, Vol. 68 Issue: 2 p159-164, 6p