Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Autor: Zou Pan, Marielle E. van Gijn, Marjolein H. Willemsen, Mariet W. Elting, Susanne Koning, Daniel C. Koboldt, Rebecca Baud, Renzo Guerrini, Ghayda M. Mirzaa, Laurence E. Walsh, Kim L. McBride, Jenny Thies, Andrew E. Timms, Shaoping Huang, Gretchen E. Rosso, Joshua Scheck, Haley McConkey, Matthew A. Deardorff, Peter D. Turnpenny, Suzanne M. Leal, Sanjay M. Sisodiya, Lin Yang, Melissa Lees, Cacha M.P.C.D. Peeters-Scholte, Henry Houlden, Marielle Alders, J. Austin Hamm, Karla A. Peña-Guerra, Richard E. Person, Leena Lauronen, Hannah K. Robinson, Theresa Mihalic Mosher, Alexandra Garza-Flores, Victoria Harrison, Tuomo Määttä, Daniela Q.C.M. Barge-Schaapveld, James R. Lupski, Houda Zghal Elloumi, Francisco J. Guzmán-Vega, Tamison Jewett, Siddharth Banka, Barbara W. van Paassen, J. Lawrence Merritt, Angela Sun, Yana Lara-Taranchenko, Irma Järvelä, Ivan K. Chinn, Claudia A. L. Ruivenkamp, Nicholas M. Allen, Xiaodong Wang, Amy Crunk, Selina H. Banu, Maura R.Z. Ruzhnikov, Jeffery McGlothlin, Mashaya Zaman, Adam Jackson, Stefan T. Arold, Bert B.A. de Vries, Jing Peng, Lauren Schenck, Isabelle Schrauwen, Marjon van Slegtenhorst, Luis Alberto Pedroza, Bekim Sadikovic, Annalisa Vetro, Reshmi Ramakrishnan, Kristin G. Monaghan, Kelly J. Cardona-Londoño, Catherine Quindipan, Kristina Lanko, Rolph Pfundt, Caroline M. Kehoe, Martino Montomoli, Christian Gilissen, Hamid Galehdari, Yolande van Bever, Jennifer Keller-Ramey, Sadegheh Haghshenas, Neda Mazaheri, Stephanie Efthymiou, Reza Maroofian, Lewis Pang, Fleur Vansenne, Abeltje M. Polstra, Kara C. Klemp, Marjolein J.A. Weerts, Xi Lin, Julia Baptista, Tahsin Stefan Barakat, Anneke Kievit, Adi Reich, Stephen R. Braddock, Shehla Mohammed, Abbey M. Putnam, Jennifer Kerkhof, Matthew Pastore, Sally Ann Lynch

Publikováno v: Genetics in Medicine
Genetics in medicine, 23(11), 2122-2137. Lippincott Williams and Wilkins
Genetics in Medicine, 23(11), 2122-2137. SPRINGERNATURE
Genetics in Medicine, 23(11), 2122-2137. Nature Publishing Group
Genomics England Research Consortium 2021, ' Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome ', Genetics in Medicine, vol. 23, no. 11, pp. 2122-2137 . https://doi.org/10.1038/s41436-021-01246-2
Genetics in Medicine, 23(11), 2122-2137. Lippincott Williams and Wilkins
Genetics in Medicine, 23(11), 2122-2137. Lippincott Williams & Wilkins
Genetics in Medicine, 23, 2122-2137
Genetics in Medicine, 23, 11, pp. 2122-2137
Genomics England Research Consortium 2021, ' Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-021-01246-2

Contains fulltext : 243955.pdf (Publisher’s version ) (Open Access) PURPOSE: Pathogenic variants in SETD1B have been associated with a syndromic neurodevelopmental disorder including intellectual disability, language delay, and seizures. To date, c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23e4f87d1b2de6f4ec6880e740ae29d4
https://doi.org/10.1038/s41436-021-01246-2

Psychiatric disorders in Post-acute COVID-syndrome (PDPACS): Recommendations for health care professionals

Autor: Andrea Falconi Paez, Bryan Nicolalde, Camila Esquetini-Vernon, Yana Lara-Taranchenko, Kevin Zambrano, Jaime Ocampo, Simone Fusaro, Gabriel Capa, Andrés Caicedo

Publikováno v: European Neuropsychopharmacology, 58, 100-102. Elsevier

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66de369628ca3efd62177a201be48dad
https://cris.maastrichtuniversity.nl/en/publications/fab5b08a-75f7-4953-81b2-073911c3b612

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Autor: Reshmi Ramakrishnan, Catherine Quindipan, Claudia A. L. Ruivenkamp, Nicholas M. Allen, Mashaya Zaman, Daniela Q.C.M. Barge-Schaapveld, Annalisa Vetro, Stephanie Efthymiou, James R. Lupski, Kara C. Klemp, Zou Pan, Adam Jackson, Marielle E. van Gijn, Joshua Scheck, Marielle Alders, Mariet W. Elting, Karla A. Peña-Guerra, Stephen R. Braddock, Rolph Pfundt, Ivan K. Chinn, Lin Yang, Lauren Schenck, Xiaodong Wang, Melissa Lees, Houda Zghal Elloumi, Shehla Mohammed, Sally Ann Lynch, Henry Houlden, Jennifer Keller-Ramey, Stefan T. Arold, Anneke Kievit, Jefferey McGlothlin, Marjon van Slegtenhorst, Marjolein H. Willemsen, Hannah K. Robinson, Bert B.A. de Vries, Irma Järvelä, Kelly J. Cardona-Londoño, Yolande van Bever, Abeltje M. Polstra, Neda Mazaheri, Barbara W. van Paassen, Maura R.Z. Ruzhnikov, Lewis Pang, Theresa Mihalic Mosher, J. Lawrence Merritt, Jing Peng, Sadegheh Haghshenas, Amy Crunk, Christian Gilissen, Fleur Vansenne, Cacha M.P.C.D. Peeters-Scholte, Richard E. Person, Hamid Galehdari, Leena Lauronen, Abbey M. Putnam, Jennifer Kerkhof, Matthew Pastore, Angela Sun, Caroline M. Kehoe, Alexandra Garza-Flores, Julia Baptista, Martino Montomoli, Selina H. Banu, Tahsin Stefan Barakat, Adi Reich, Luis Alberto Pedroza, Laurence E. Walsh, Renzo Guerrini, Ghayda M. Mirzaa, Peter D. Turnpenny, J. Austin Hamm, Xi Lin, Kristina Lanko, Reza Maroofian, Tuomo Määttä, Yana Lara-Taranchenko, Kim L. McBride, Jenny Thies, Andrew E. Timms, Shaoping Huang, Suzanne M. Leal, Daniel C. Koboldt, Rebecca Baud, Gretchen E. Rosso, Haley McConkey, Matthew A. Deardorff, Marjolein J.A. Weerts, Francisco J. Guzmán-Vega, Tamison Jewett, Siddharth Banka, Kristin G. Monaghan, Isabelle Schrauwen, Bekim Sadikovic, Sanjay M. Sisodiya, Victoria Harrison, Susanne Koning

Pathogenic variants in SETD1B have been associated with a syndromic neurodevelopmental disorder including intellectual disability, language delay and seizures. To date, clinical features have been described for eleven patients with (likely) pathogeni

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::16c8e215afe52e022ad5ae98a3578594
https://doi.org/10.1101/2021.02.11.430742