N
Nataliya Di Donato
Researcher at Dresden University of Technology
Publications - 80
Citations - 3713
Nataliya Di Donato is an academic researcher from Dresden University of Technology. The author has contributed to research in topics: Exome sequencing & Medicine. The author has an hindex of 21, co-authored 67 publications receiving 2985 citations. Previous affiliations of Nataliya Di Donato include Seattle Children's Research Institute & Boston Children's Hospital.
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Journal ArticleDOI
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Anita Rauch,Dagmar Wieczorek,Elisabeth Graf,Thomas Wieland,Sabine Endele,Thomas Schwarzmayr,Beate Albrecht,Deborah Bartholdi,Jasmin Beygo,Nataliya Di Donato,Andreas Dufke,Kirsten Cremer,Maja Hempel,Denise Horn,Juliane Hoyer,Pascal Joset,Albrecht Röpke,Ute Moog,Angelika Riess,Christian Thiel,Andreas Tzschach,Antje Wiesener,Eva Wohlleber,Christiane Zweier,Arif B. Ekici,Alexander M. Zink,Andreas Rump,Christa Meisinger,Harald Grallert,Heinrich Sticht,Annette Schenck,Hartmut Engels,Gudrun A. Rappold,Evelin Schröck,Peter Wieacker,Olaf Riess,Thomas Meitinger,André Reis,Tim M. Strom +38 more
TL;DR: The large number of de-novo variants in known intellectual disability genes is only partially attributable to known non-specific phenotypes, suggesting a strong bias in present clinical syndrome descriptions.
Journal ArticleDOI
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
Matthew A. Deardorff,Masashige Bando,Ryuichiro Nakato,Erwan Watrin,Takehiko Itoh,Masashi Minamino,Katsuya Saitoh,Makiko Komata,Yuki Katou,Dinah Clark,Kathryn E. Cole,Elfride De Baere,Christophe Decroos,Nataliya Di Donato,Sarah Ernst,Lauren J. Francey,Yolanda Gyftodimou,Kyotaro Hirashima,Melanie Hullings,Yuuichi Ishikawa,Christian Jaulin,Maninder Kaur,Tohru Kiyono,Patrick M. Lombardi,Laura Magnaghi-Jaulin,Geert Mortier,Naohito Nozaki,Michael B. Petersen,Hiroyuki Seimiya,Victoria Mok Siu,Yutaka Suzuki,Kentaro Takagaki,Jonathan J. Wilde,Patrick Willems,Claude Prigent,Gabriele Gillessen-Kaesbach,David W. Christianson,Frank J. Kaiser,Laird G. Jackson,Toru Hirota,Ian D. Krantz,Katsuhiko Shirahige +41 more
TL;DR: HDRAC8 is identified as the vertebrate SMC3 deacetylase, as well as loss-of-function HDAC8 mutations in six CdLS probands, which results in increased SMC 3 acetylation and inefficient dissolution of the ‘used’ cohesin complex released from chromatin in both prophase and anaphase.
Journal ArticleDOI
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development
Silvia Cappello,Mary J Gray,Caroline Badouel,Caroline Badouel,Simona Lange,Melanie Einsiedler,Myriam Srour,David Chitayat,Fadi F. Hamdan,Zandra A. Jenkins,Timothy R. Morgan,Nadia Preitner,Tami Uster,Jackie Thomas,Patrick Shannon,Victoria Morrison,Nataliya Di Donato,Lionel Van Maldergem,Teresa Neuhann,Ruth Newbury-Ecob,Marielle Swinkells,Paulien A Terhal,Louise C. Wilson,Petra J. G. Zwijnenburg,Andrew J. Sutherland-Smith,Michael A. Black,David Markie,Jacques L. Michaud,Michael A. Simpson,Sahar Mansour,Helen McNeill,Helen McNeill,Magdalena Götz,Stephen P. Robertson +33 more
TL;DR: It is shown that mutations in genes encoding the receptor-ligand cadherin pair DCHS1 and FAT4 lead to a recessive syndrome in humans that includes periventricular neuronal heterotopia, and these findings implicate Dchs1 and Fat4 upstream of Yap as key regulators of mammalian neurogenesis.
Journal ArticleDOI
Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on wnt signaling
Lot Snijders Blok,Erik C. Madsen,Jane Juusola,Christian Gilissen,Diana Baralle,Margot R.F. Reijnders,Hanka Venselaar,Céline Helsmoortel,Megan T. Cho,Alexander Hoischen,Lisenka E.L.M. Vissers,Tom S. Koemans,Willemijn M. Wissink-Lindhout,Evan E. Eichler,Evan E. Eichler,Corrado Romano,Hilde Van Esch,Connie T.R.M. Stumpel,Maaike Vreeburg,E. Smeets,Karin Oberndorff,Bregje W.M. van Bon,Bregje W.M. van Bon,Marie Shaw,Jozef Gecz,Eric Haan,M Bienek,C Jensen,Bart Loeys,Anke Van Dijck,A. Micheil Innes,Hilary Racher,Sascha Vermeer,Nataliya Di Donato,Andreas Rump,Katrina Tatton-Brown,Michael Parker,Alex Henderson,Sally Ann Lynch,Alan Fryer,Alison Ross,Pradeep Vasudevan,Usha Kini,Ruth Newbury-Ecob,Kate Chandler,Alison Male,Sybe Dijkstra,Jolanda H. Schieving,Jacques C. Giltay,Koen L.I. van Gassen,Janneke H M Schuurs-Hoeijmakers,Perciliz L. Tan,Igor Pediaditakis,Stefan A. Haas,Kyle Retterer,Patrick Reed,Kristin G. Monaghan,Eden Haverfield,Marvin R. Natowicz,Angela Myers,Michael C. Kruer,Quinn Stein,Kevin A. Strauss,Karlla W. Brigatti,Katherine G. Keating,Barbara K. Burton,Katherine H. Kim,Joel Charrow,Jennifer Norman,Audrey Foster-Barber,Antonie D. Kline,Amy S. Kimball,Elaine H. Zackai,Margaret H. Harr,Joyce Fox,Julie McLaughlin,Kristin Lindstrom,Katrina Haude,Kees E. P. van Roozendaal,Han G. Brunner,Wendy K. Chung,R. Frank Kooy,Rolph Pfundt,Vera M. Kalscheuer,Sarju G. Mehta,Nicholas Katsanis,Tjitske Kleefstra +86 more
TL;DR: A consistent loss-of-function effect of all tested de novo mutations on the Wnt pathway is demonstrated, and a differential effect by gender is shown, possibly reflects a dose-dependent effect of DDX3X expression in the context of functional mosaic females versus one-copy males, which reflects the complex biological nature of DDx3X mutations.
Journal ArticleDOI
GRIN2B encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects
Konrad Platzer,Hongjie Yuan,Hannah Schütz,Alexander Winschel,Wenjuan Chen,Chun Hu,Hirofumi Kusumoto,Henrike O. Heyne,Katherine L. Helbig,Sha Tang,Marcia C. Willing,Brad T. Tinkle,Darius J Adams,Christel Depienne,Christel Depienne,Christel Depienne,Boris Keren,Boris Keren,Cyril Mignot,Eirik Frengen,Petter Strømme,Saskia Biskup,Dennis Döcker,Tim M. Strom,Heather C Mefford,Candace T. Myers,Alison M. Muir,Amy Lacroix,Lynette G. Sadleir,Ingrid E. Scheffer,Eva H. Brilstra,Mieke M. van Haelst,Jasper J. van der Smagt,Levinus A. Bok,Rikke S. Møller,Rikke S. Møller,Uffe Birk Jensen,John Millichap,Anne T. Berg,Ethan M. Goldberg,Isabelle De Bie,Stephanie Fox,Philippe Major,Julie R. Jones,Elaine H. Zackai,Rami Abou Jamra,Arndt Rolfs,Richard J. Leventer,Richard J. Leventer,John A. Lawson,Tony Roscioli,Floor E. Jansen,Emmanuelle Ranza,Christian Korff,Anna-Elina Lehesjoki,Carolina Courage,Tarja Linnankivi,Douglas R. Smith,Christine M. Stanley,Mark Mintz,Dianalee McKnight,Amy Decker,Wen-Hann Tan,Mark A. Tarnopolsky,Lauren Brady,Markus Wolff,Lutz Dondit,Helio Pedro,Sarah E Parisotto,Kelly L. Jones,Anup D. Patel,Anup D. Patel,David Neal Franz,Rena Vanzo,Elysa J. Marco,Judith D. Ranells,Nataliya Di Donato,William B. Dobyns,William B. Dobyns,Bodo Laube,Stephen F. Traynelis,Johannes R. Lemke +81 more
TL;DR: Evidence is found that GRIN2B encephalopathy is also frequently associated with movement disorder, cortical visual impairment and MCD revealing novel phenotypic consequences of channelopathies, and an objectifiable beneficial treatment response in the respective patients still remains to be demonstrated.