Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila

Autor: Straub, Jonas, Konrad, Enrico D.H., Grüner, Johanna, Toutain, Annick, Bok, Levinus A., Cho, Megan T., Crawford, Heather P., Dubbs, Holly, Douglas, Ganka, Jobling, Rebekah, Johnson, Diana, Krock, Bryan, Mikati, Mohamad A., Nesbitt, Addie, Nicolai, Joost, Phillips, Meredith, Poduri, Annapurna, Ortiz-Gonzalez, Xilma R., Powis, Zöe, Santani, Avni, Smith, Lacey, Stegmann, Alexander P.A., Stumpel, Constance, Vreeburg, Maaike, Fliedner, Anna, Gregor, Anne, Sticht, Heinrich, Zweier, Christiane

Publikováno v: In The American Journal of Human Genetics 4 January 2018 102(1):44-57

Loss of PHF6 leads to aberrant development of human neuron-like cells

Autor: Fliedner, Anna, Gregor, Anne, Ferrazzi, Fulvia, Ekici, Arif B., Sticht, Heinrich, Zweier, Christiane

Publikováno v: Scientific Reports, Vol 10, Iss 1, Pp 1-15 (2020)
Fliedner, Anna; Gregor, Anne; Ferrazzi, Fulvia; Ekici, Arif B.; Sticht, Heinrich; Zweier, Christiane (2020). Loss of PHF6 leads to aberrant development of human neuron-like cells. Scientific reports, 10(1), p. 19030. Springer Nature 10.1038/s41598-020-75999-2
Scientific Reports

Pathogenic variants in PHD finger protein 6 (PHF6) cause Borjeson–Forssman–Lehmann syndrome (BFLS), a rare X-linked neurodevelopmental disorder, which manifests variably in both males and females. To investigate the mechanisms behind overlapping

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de26b795e0e4743686a2a2cf6ace142c
http://link.springer.com/article/10.1038/s41598-020-75999-2

X-chromosomale Entwicklungsstörungen im weiblichen Geschlecht.

Autor: Fliedner, Anna¹, Zweier, Christiane¹ christiane.zweier@uk-erlangen.de

Publikováno v: Medizinische Genetik. Nov2018, Vol. 30 Issue 3, p334-341. 8p.

Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing

Autor: Nelson, Stanley F., Grody, Wayne W., Lee, Hane, Deignan, Joshua L., Kang, Sung-Hae, Arboleda, Valerie A., Senaratne, T. Niroshi, Dorrani, Naghmeh, Dutra-Clarke, Marina S., Kianmahd, Jessica, Hinkamp, Franceska L., Neustadt, Ahna M., Martinez-Agosto, Julian A., Fogel, Brent L., Quintero-Rivera, Fabiola, Fliedner, Anna, Kirchner, Philipp, Wiesener, Antje, van de Beek, Irma, Waisfisz, Quinten, van Haelst, Mieke, Scott, Daryl A., Lalani, Seema R., Rosenfeld, Jill A., Azamian, Mahshid S., Xia, Fan, Dutra-Clarke, Marina, Noh, Grace J., Lippa, Natalie, Alkelai, Anna, Aggarwal, Vimla, Agre, Katherine E., Gavrilova, Ralitza, Mirzaa, Ghayda M., Straussberg, Rachel, Cohen, Rony, Horist, Brooke, Krishnamurthy, Vidya, McWalter, Kirsty, Juusola, Jane, Davis-Keppen, Laura, Ohden, Lisa, van Slegtenhorst, Marjon, de Man, Stella A., Ekici, Arif B., Gregor, Anne, van de Laar, Ingrid, Zweier, Christiane

Publikováno v: In The American Journal of Human Genetics 3 September 2020 107(3):544-554

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