Dominant-negative variants in CBX1 cause a neurodevelopmental disorder

Authors: Kuroda, Yukiko, Iwata-Otsubo, Aiko, Dias, Kerith-Rae, Temple, Suzanna E.L., Nagao, Koji, De Hayr, Lachlan, Zhu, Ying, Isobe, Shin-Ya, Nishibuchi, Gohei, Fiordaliso, Sarah K., Fujita, Yuki, Rippert, Alyssa L., Baker, Samuel W., Leung, Marco L., Koboldt, Daniel C., Harman, Adele, Keena, Beth A., Kazama, Izumi, Subramanian, Gopinath Musuwadi, Manickam, Kandamurugu, Schmalz, Betsy, Latsko, Maeson, Zackai, Elaine H., Edwards, Matt, Evans, Carey-Anne, Dulik, Matthew C., Buckley, Michael F., Yamashita, Toshihide, O'Brien, W. Timothy, Harvey, Robert J., Obuse, Chikashi, Roscioli, Tony, Izumi, Kosuke

Source: In Genetics in Medicine July 2023 25(7)

16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome.

Authors: Iwata-Otsubo, Aiko, Rippert, Alyssa L., Balciuniene, Jorune, Fiordaliso, Sarah K., Chen, Robert, Markose, Preetha, Skraban, Cara M., Gray, Christopher, Zackai, Elaine H., Dubbs, Holly A, Deardorff, Matthew A., Conlin, Laura K., Izumi, Kosuke

Source: Genes; Feb2025, Vol. 16 Issue 2, p136, 9p

Subject Terms: DNA copy number variations, MESSENGER RNA, DEVELOPMENTAL delay, GENE expression, INTELLECTUAL disabilities

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment

Authors: Fiordaliso, Sarah K., Iwata-Otsubo, Aiko, Ritter, Alyssa L., Quesnel-Vallières, Mathieu, Fujiki, Katsunori, Nishi, Eriko, Hancarova, Miroslava, Miyake, Noriko, Morton, Jenny E.V., Lee, Sangmoon, Hackmann, Karl, Bando, Masashige, Masuda, Koji, Nakato, Ryuichiro, Arakawa, Michiko, Bhoj, Elizabeth, Li, Dong, Hakonarson, Hakon, Takeda, Ryojun, Harr, Margaret, Keena, Beth, Zackai, Elaine H., Okamoto, Nobuhiko, Mizuno, Seiji, Ko, Jung Min, Valachova, Alica, Prchalova, Darina, Vlckova, Marketa, Pippucci, Tommaso, Seiler, Christoph, Choi, Murim, Matsumoto, Naomichi, Di Donato, Nataliya, Barash, Yoseph, Sedlacek, Zdenek, Shirahige, Katsuhiko, Izumi, Kosuke

Source: American journal of human genetics. 105(5):987-995

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100092595605.0x000001&indx=1&recIds=ETOCvdc_100092595605.0x000001

Variable Clinical Manifestations of Xia‐Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital

Authors: Ritter, Alyssa L., McDougall, Carey, Skraban, Cara, Medne, Livija, Bedoukian, Emma C., Asher, Stephanie B., Balciuniene, Jorune, Campbell, Colleen D., Baker, Samuel W., Denenberg, Elizabeth H., Mazzola, Sarah, Fiordaliso, Sarah K., Krantz, Ian D., Kaplan, Paige, Ierardi‐Curto, Lynne, Santani, Avni B., Zackai, Elaine H., Izumi, Kosuke

Source: American journal of medical genetics.Part A. 176(9):1890-1896

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100083917811.0x000001&indx=1&recIds=ETOCvdc_100083917811.0x000001

Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.

Authors: Iwata-Otsubo, Aiko, Skraban, Cara M., Yoshimura, Atsunori, Sakata, Toyonori, Alves, Cesar Augusto P., Fiordaliso, Sarah K., Kuroda, Yukiko, Vengoechea, Jaime, Grochowsky, Angela, Ernste, Paige, Lulis, Lauren, Nesbitt, Addie, Tayoun, Ahmad Abou, Gray, Christopher, Towne, Meghan C., Radtke, Kelly, Normand, Elizabeth A., Rhodes, Lindsay, Seiler, Christoph, Shirahige, Katsuhiko

Source: Human Genetics; Mar2024, Vol. 143 Issue 3, p437-453, 17p

Subject Terms: RNA polymerases, TRANSFER RNA, LYMPHOBLASTOID cell lines, GROWTH disorders, TRANSCRIPTION factors, FACIAL abnormalities

Dominant-negative variants in CBX1cause a neurodevelopmental disorder

Authors: Kuroda, Yukiko, Iwata-Otsubo, Aiko, Dias, Kerith-Rae, Temple, Suzanna E.L., Nagao, Koji, De Hayr, Lachlan, Zhu, Ying, Isobe, Shin-Ya, Nishibuchi, Gohei, Fiordaliso, Sarah K., Fujita, Yuki, Rippert, Alyssa L., Baker, Samuel W., Leung, Marco L., Koboldt, Daniel C., Harman, Adele, Keena, Beth A., Kazama, Izumi, Subramanian, Gopinath Musuwadi, Manickam, Kandamurugu, Schmalz, Betsy, Latsko, Maeson, Zackai, Elaine H., Edwards, Matt, Evans, Carey-Anne, Dulik, Matthew C., Buckley, Michael F., Yamashita, Toshihide, O'Brien, W. Timothy, Harvey, Robert J., Obuse, Chikashi, Roscioli, Tony, Izumi, Kosuke

Source: Genetics in Medicine; July 2023, Vol. 25 Issue: 7