Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

Autor: Susan M. Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, E. Christopher Partridge, Fatima E. Abidi, Ashlyn Anderson, Muhammad Ansar, Stylianos E. Antonarakis, Azadeh Azadi, Ruxandra Bachmann-Gagescu, Andrea Bartuli, Caroline Benech, Jennifer L. Berkowitz, Michael J. Betti, Alfredo Brusco, Ashley Cannon, Giulia Caron, Yanmin Chen, Meagan E. Cochran, Tanner F. Coleman, Molly M. Crenshaw, Laurence Cuisset, Cynthia J. Curry, Hossein Darvish, Serwet Demirdas, Maria Descartes, Jessica Douglas, David A. Dyment, Houda Zghal Elloumi, Giuseppe Ermondi, Marie Faoucher, Emily G. Farrow, Stephanie A. Felker, Heather Fisher, Anna C.E. Hurst, Pascal Joset, Melissa A. Kelly, Stanislav Kmoch, Benjamin R. Leadem, Michael J. Lyons, Marina Macchiaiolo, Martin Magner, Giorgia Mandrile, Francesca Mattioli, Megan McEown, Sarah K. Meadows, Livija Medne, Naomi J.L. Meeks, Sarah Montgomery, Melanie P. Napier, Marvin Natowicz, Kimberly M. Newberry, Marcello Niceta, Lenka Noskova, Catherine B. Nowak, Amanda G. Noyes, Matthew Osmond, Eloise J. Prijoles, Jada Pugh, Verdiana Pullano, Chloé Quélin, Simin Rahimi-Aliabadi, Anita Rauch, Sylvia Redon, Alexandre Reymond, Caitlin R. Schwager, Elizabeth A. Sellars, Angela E. Scheuerle, Elena Shukarova-Angelovska, Cara Skraban, Elliot Stolerman, Bonnie R. Sullivan, Marco Tartaglia, Isabelle Thiffault, Kevin Uguen, Luis A. Umaña, Yolande van Bever, Saskia N. van der Crabben, Marjon A. van Slegtenhorst, Quinten Waisfisz, Camerun Washington, Lance H. Rodan, Richard M. Myers, Gregory M. Cooper

Publikováno v: American journal of human genetics, 110(2), 215-227. Cell Press
Hiatt, S M, Trajkova, S, Sebastiano, M R, Partridge, E C, Abidi, F E, Anderson, A, Ansar, M, Antonarakis, S E, Azadi, A, Bachmann-Gagescu, R, Bartuli, A, Benech, C, Berkowitz, J L, Betti, M J, Brusco, A, Cannon, A, Caron, G, Chen, Y, Cochran, M E, Coleman, T F, Crenshaw, M M, Cuisset, L, Curry, C J, Darvish, H, Demirdas, S, Descartes, M, Douglas, J, Dyment, D A, Elloumi, H Z, Ermondi, G, Faoucher, M, Farrow, E G, Felker, S A, Fisher, H, Hurst, A C E, Joset, P, Kelly, M A, Kmoch, S, Leadem, B R, Lyons, M J, Macchiaiolo, M, Magner, M, Mandrile, G, Mattioli, F, McEown, M, Meadows, S K, Medne, L, Meeks, N J L, Montgomery, S, Napier, M P, Natowicz, M, Newberry, K M, Niceta, M, Noskova, L, Nowak, C B, Noyes, A G, Osmond, M, Prijoles, E J, Pugh, J, Pullano, V, Quélin, C, Rahimi-Aliabadi, S, Rauch, A, Redon, S, Reymond, A, Schwager, C R, Sellars, E A, Scheuerle, A E, Shukarova-Angelovska, E, Skraban, C, Stolerman, E, Sullivan, B R, Tartaglia, M, Thiffault, I, Uguen, K, Umaña, L A, van Bever, Y, van der Crabben, S N, van Slegtenhorst, M A, Waisfisz, Q, Washington, C, Rodan, L H, Myers, R M & Cooper, G M 2023, ' Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype ', American journal of human genetics, vol. 110, no. 2, pp. 215-227 . https://doi.org/10.1016/j.ajhg.2022.12.007
American Journal of Human Genetics
American Journal of Human Genetics, 2023, 110 (2), pp.215-227. ⟨10.1016/j.ajhg.2022.12.007⟩
American Journal of Human Genetics, 110(2), 215-227. Cell Press

Neurodevelopmental disorders (NDDs) result from highly penetrant variation in hundreds of different genes, some of which have not yet been identified. Using the MatchMaker Exchange, we assembled a cohort of 27 individuals with rare, protein-altering

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9940ea52913c5bbdc54a98d0f9168154
https://pure.amc.nl/en/publications/deleterious-proteinaltering-variants-in-the-transcriptional-coregulator-zmym3-in-27-individuals-with-a-neurodevelopmental-delay-phenotype(b3792507-cf7f-4240-a6b2-5cc40fd0a55c).html

Mutations in the BAF-complex subunit DPF2 associated with Coffin-Siris syndrome

Autor: Andrew O.M. Wilkie, Georgia Vasileiou, Bernt Popp, Yun Li, Maren Wenzel, Marion Gérard, Susan Tomkins, Jenny Morton, Megan T. Cho, André Reis, Astrid Weber, George E. Hoganson, Beate Albrecht, Felix B. Engel, Arif B. Ekici, Maria-Renée Plona, Janine Altmüller, Christian Thiel, Christian Büttner, Jill Clayton-Smith, Karen Low, Dagmar Wieczorek, Deciphering Developmental Disorders Study, Bernd Wollnik, Eduardo Calpena, Nuria C. Bramswig, Sabine Endele, Hermann-Josef Lüdecke, Silvia Vergarajauregui, Tim M. Strom

Publikováno v: The American Journal of Human Genetics
The American Journal of Human Genetics, 2018, 102 (3), pp.468-479. ⟨10.1016/j.ajhg.2018.01.014⟩
Am. J. Hum. Genet. 102, 468-479 (2018)
Publons
Web of Science
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102 (3), pp.468-479. ⟨10.1016/j.ajhg.2018.01.014⟩
Vasileiou, G, Vergarajauregui, S, Endele, S, Popp, B, Büttner, C, Ekici, A B, Gerard, M, Bramswig, N C, Albrecht, B, Clayton-Smith, J, Morton, J, Tomkins, S, Low, K, Weber, A, Wenzel, M, Altmüller, J, Li, Y, Wollnik, B, Hoganson, G, Plona, M R, Cho, M T, Thiel, C T, Lüdecke, H J, Strom, T M, Calpena, E, Wilkie, A O M, Wieczorek, D, Engel, F B, Reis, A & Deciphering Developmental Disorders Study 2018, ' Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome ', American Journal of Human Genetics, vol. 102, no. 3, pp. 468-479 . https://doi.org/10.1016/j.ajhg.2018.01.014

International audience; Variants affecting the function of different subunits of the BAF chromatin-remodelling complex lead to various neurodevelopmental syndromes, including Coffin-Siris syndrome. Furthermore, variants in proteins containing PHD fin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e2b52f3c0b72ea589cba64c0fc2dd4a
https://ora.ox.ac.uk/objects/uuid:fa6f808e-e7d1-48e4-a62a-f6c7526d4553

Assessment of the accuracy of three-dimensional manual craniofacial reconstruction: a series of 25 controlled cases

Autor: Pascal Staccini, Thierry Balaguer, Véronique Alunni-Perret, Gérald Quatrehomme

Publikováno v: Deutsche Zeitschrift für die Gesamte Gerichtliche Medizin
Deutsche Zeitschrift für die Gesamte Gerichtliche Medizin, 2007, 121 (6), pp.469-75. ⟨10.1007/s00414-007-0197-z⟩

International audience; The aim of this work was to estimate the accuracy of craniofacial reconstruction (CFR), from a series of 25 controlled cases. Three protocols of blind CFRs (exhibiting an increasing complexity from A to C) were assessed in thi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc21fda86df8df8d60e681d8fcce0420
https://doi.org/10.1007/s00414-007-0197-z

Foot, Hand, Face and Eye Representation in the Human Striatum

Autor: Jean-François Mangin, Stéphane Lehéricy, Jean-Baptiste Pochon, Yves Agid, Fabrice Poupon, Sophie Tezenas du Montcel, Denis Le Bihan, Emmanuel Gerardin, Claude Marsault

Publikováno v: Cerebral Cortex
Cerebral Cortex, 2003, 13 (2), pp.162-9. ⟨10.1093/cercor/13.2.162⟩
Cerebral Cortex, Oxford University Press (OUP), 2003, 13 (2), pp.162-9. ⟨10.1093/cercor/13.2.162⟩

International audience; The present study aimed at determining the three-dimensional organization of striatal activation during foot, hand, face and eye movements. Seven right-handed, healthy volunteers were studied at 1.5 T using blood oxygen level

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6726cf106ec4179669e369f5ded27ceb
https://doi.org/10.1093/cercor/13.2.162

Risk factors in facial hyperpigmentation in Maghrebian population - a case-control study

Autor: H. Benchikhi, H. Lakhdar, N. Atide, I. Jroundi, P. Humbert

Publikováno v: International Journal of Cosmetic Science
International Journal of Cosmetic Science, Wiley, 2012, 34 (5), pp.477-80. ⟨10.1111/j.1468-2494.2012.00739.x⟩

International audience; Triggering factors seem to be multiple in the pathogenesis of facial hyperpigmentation (FH), as dark skin types, pregnancy, sun exposure... The aim of this study was to investigate the risk factors for FH in Maghrebian populat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b379ad4648ee10edf2bb356fa41ad77
https://www.hal.inserm.fr/inserm-00821050