A family study implicates GBE1 in the etiology of autism spectrum disorder

Autor: Greta Gillies, Keri Finlay, Hayley S. Mountford, Peter Hickey, Ingrid E. Scheffer, Vesna Lukic, Bradley P. Coe, Kiymet Bozaoglu, Melanie Bahlo, Haloom Rafehi, Audrey Rattray, Paul J. Lockhart, Natasha J Brown, Dana Alhuzaimi, Tanya Vick, Miriam Fanjul-Fernández, Cherie C Green, Sarah J. Wilson, Martin B. Delatycki, Savannah Young, Evan E. Eichler, Peter Diakumis

Publikováno v: Hum Mutat

Autism spectrum disorders (ASD) are neurodevelopmental disorders with an estimated heritability of >60%. Family-based genetic studies of ASD have generally focused on multiple small kindreds, searching for de novo variants of major effect. We hypothe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1061e3918e4b875e007635c67e625a48
https://europepmc.org/articles/PMC8720068/

Clonal multi-omics reveals Bcor as a negative regulator of emergency dendritic cell development

Autor: Lev Kats, Peter Diakumis, Timothy Patton, Sara Tomei, Cindy Audiger, Meredith O'Keeffe, Toby Sargeant, Shalin H. Naik, Daniela Amann-Zalcenstein, Jessica Tran, Melanie Bahlo, Ee Shan Pang, Luyi Tian, Matthew E. Ritchie, Dawn S. Lin, Ashley P. Ng, Madison J. Kelly, Adrienne A. Hilton, Andrew Jarratt, Tracy A. Willson, Jaring Schreuder, Tom S. Weber, Quentin Gouil, Mathew Chu, Philip D. Hodgkin, Shian Su

Publikováno v: Immunity. 54:1338-1351.e9

Despite advances in single-cell multi-omics, a single stem or progenitor cell can only be tested once. We developed clonal multi-omics, in which daughters of a clone act as surrogates of the founder, thereby allowing multiple independent assays per c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af0c7e9bb4e4b72fe8b7e1116b15c705
https://doi.org/10.1016/j.immuni.2021.03.012

Genetic Analysis of Patients Who Experienced Awareness with Recall while under General Anesthesia

Autor: Jamie Sleigh, David J. Amor, Paul J. Lockhart, Kate Leslie, Peter Diakumis, Andrew Davidson, Melanie Bahlo, Vesna Lukic

Publikováno v: Anesthesiology. 131(5)

Editor’s Perspective What We Already Know about This Topic What This Article Tells Us That Is New Background Intraoperative awareness with recall while under apparently adequate general anesthesia is a rare, unexplained, and often very distressing

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e3071b55a4bb21861293d9dbb78c2a3
https://pubmed.ncbi.nlm.nih.gov/31335548

SIS-seq, a molecular ‘time machine’, connects single cell fate with gene programs

Autor: Jessica Tran, Matthew E. Ritchie, Daniela Amann-Zalcenstein, Peter Diakumis, Nikolce Kocovski, Tian Luyi, Melanie Bahlo, Toby Sargeant, Shalin H. Naik, Philip D. Hodgkin, Shian Su, Jaring Schreuder

Conventional single cell RNA-seq methods are destructive, such that a given cell cannot also then be tested for fate and function, without a time machine. Here, we develop a clonal method SIS-seq, whereby single cells are allowed to divide, and proge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a3416c5ccba1bd26f439eeb84caa557
https://doi.org/10.1101/403113

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Autor: María Concepción Gil-Rodríguez, Angela E. Scheuerle, Kathleen A. Leppig, Hane Lee, Miguel Del Campo, Peter Diakumis, Katsuhiko Shirahige, Encarna Guillén-Navarro, Juliane Eckhold, Sally Ann Lynch, Holly Dubbs, A. Micheil Innes, Joe Ann S. Moser, Sulagna C. Saitta, Naohito Nozaki, Fabiola Quintero-Rivera, Helger G. Yntema, Antonie D. Kline, Antonio Perez-Aytes, Dinah Clark, Patrick Willems, Lynette S. Penney, Bryan D. Hall, David A. Dyment, Samuel P. Strom, Matthew A. Deardorff, Maninder Kaur, Kathleen A. Williamson, Diana Braunholz, Ieva Micule, Jennifer M. Hunter, Jose Ferreira, Laird G. Jackson, Sarah Ernst, Paldeep S. Atwal, Raoul C.M. Hennekam, Shane McKee, Sarju G. Mehta, David R. FitzPatrick, Sarah E. Noon, David J. Amor, Yolanda Gyftodimou, David W. Christianson, Louanne Hudgins, Christopher T. Fincher, Melanie Hullings, Inga Vater, Victoria Mok Siu, Feliciano J. Ramos, Michael B. Petersen, Christophe Decroos, Antonio Musio, Morad Ansari, Elizabeth Roeder, Nicole Revencu, Heidi Thiese, Shehla Mohammed, Beatriz Puisac, Louise C. Wilson, John Pappas, Lauren J. Francey, Zita Krumina, Zornitza Stark, Karen L. Schindeler, Juan Pié, Ellen Moran, Jolanta Wierzba, Nataliya Di Donato, Hakon Hakonarson, Frank J. Kaiser, Gabriele Gillessen-Kaesbach, Geert Mortier, Han G. Brunner, Linda Mannini, Melanie Bahlo, Jonathan J. Wilde, Masashige Bando, Jacquelyn J. Bradley, Mark B. Mallozzi, Ulrike Gehlken, Christine M. Bowman, Luis Nunes, Ian D. Krantz

Publikováno v: Kaiser, F J, Ansari, M, Braunholz, D, Concepción Gil-Rodríguez, M, Decroos, C, Wilde, J J, Fincher, C T, Kaur, M, Bando, M, Amor, D J, Atwal, P S, Bahlo, M, Bowman, C M, Bradley, J J, Brunner, H G, Clark, D, Del Campo, M, Di Donato, N, Diakumis, P, Dubbs, H, Dyment, D A, Eckhold, J, Ernst, S, Ferreira, J C, Francey, L J, Gehlken, U, Guillén-Navarro, E, Gyftodimou, Y, Hall, B D, Hennekam, R, Hudgins, L, Hullings, M, Hunter, J M, Yntema, H, Innes, A M, Kline, A D, Krumina, Z, Lee, H, Leppig, K, Lynch, S A, Mallozzi, M B, Mannini, L, McKee, S, Mehta, S G, Micule, I, Mohammed, S, Moran, E, Mortier, G R, Moser, J-A S, Petersen, M B & Care4Rare Canada Consortium 2014, ' Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance ', Human Molecular Genetics, vol. 23, no. 11, pp. 2888-2900 . https://doi.org/10.1093/hmg/ddu002
Human molecular genetics, 23(11), 2888-2900. Oxford University Press
Human molecular genetics, vol 23, iss 11
Human Molecular Genetics, 23, 11, pp. 2888-900
Human Molecular Genetics, 23, 2888-900
HUMAN MOLECULAR GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
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Human Molecular Genetics, Vol. 23, no. 11, p. 2888-2900 (2014)
Human molecular genetics

Cornelia de Lange syndrome (CdLS) is amultisystemgenetic disorder with distinct facies, growth failure, intellectual disability, distal limb anomalies, gastrointestinal and neurological disease. Mutations in NIPBL, encoding a cohesin regulatory prote

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d5b1ff2bb16729d8da56fa773419cfe
https://doi.org/10.1093/hmg/ddu002