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Clinical phenotypes of MAGEL2 mutations and deletions.
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 40, doi. 10.1186/1750-1172-9-40
By:
- Buiting, Karin;
- Di Donato, Nataliya;
- Beygo, Jasmin;
- Bens, Susanne;
- von der Hagen, Maja;
- Hackmann, Karl;
- Horsthemke, Bernhard
Publication type:
Article
Clinical phenotypes of MAGEL2 mutations and deletions.
Published in:
2014
By:
- Buiting, Karin;
- Di Donato, Nataliya;
- Beygo, Jasmin;
- Bens, Susanne;
- von der Hagen, Maja;
- Hackmann, Karl;
- Horsthemke, Bernhard
Publication type:
Case Study
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
Published in:
Brain: A Journal of Neurology, 2022, v. 145, n. 9, p. 3274, doi. 10.1093/brain/awac164
By:
- Donato, Nataliya Di;
- Guerrini, Renzo;
- Billington, Charles J;
- Barkovich, A James;
- Dinkel, Philine;
- Freri, Elena;
- Heide, Michael;
- Gershon, Elliot S;
- Gertler, Tracy S;
- Hopkin, Robert J;
- Jacob, Suma;
- Keedy, Sarah K;
- Kooshavar, Daniz;
- Lockhart, Paul J;
- Lohmann, Dietmar R;
- Mahmoud, Iman G;
- Parrini, Elena;
- Schrock, Evelin;
- Severi, Giulia;
- Timms, Andrew E
Publication type:
Article
Females with de novo aberrations in PHF6: Clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2014, v. 166C, n. 3, p. 290, doi. 10.1002/ajmg.c.31408
By:
- Zweier, Christiane;
- Rittinger, Olaf;
- Bader, Ingrid;
- Berland, Siren;
- Cole, Trevor;
- Degenhardt, Franziska;
- Di Donato, Nataliya;
- Graul‐Neumann, Luitgard;
- Hoyer, Juliane;
- Lynch, Sally Ann;
- Vlasak, Ingrid;
- Wieczorek, Dagmar
Publication type:
Article
Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2719, doi. 10.1002/ajmg.a.62362
By:
- Pirozzi, Filomena;
- Lee, Benson;
- Horsley, Nicole;
- Burkardt, Deepika D.;
- Dobyns, William B.;
- Graham, John M.;
- Dentici, Maria L.;
- Cesario, Claudia;
- Schallner, Jens;
- Porrmann, Joseph;
- Di Donato, Nataliya;
- Sanchez‐Lara, Pedro A.;
- Mirzaa, Ghayda M.
Publication type:
Article
Congenital hiatal hernia segregating with a duplication in 9q22.31q22.32 in two families.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3040, doi. 10.1002/ajmg.a.61898
By:
- Chang, Caitlin A.;
- Di Donato, Nataliya;
- Hackmann, Karl;
- Argiropoulos, Bob;
- Ferreira, Patrick;
- Innes, A. Micheil;
- Thomas, Mary Ann
Publication type:
Article
Novel VPS33B mutation in a patient with autosomal recessive keratoderma‐ichthyosis‐deafness syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2862, doi. 10.1002/ajmg.a.40634
By:
- Alter, Svenja;
- Hotz, Alrun;
- Jahn, Arne;
- Di Donato, Nataliya;
- Schröck, Evelin;
- Smitka, Martin;
- von der Hagen, Maja;
- Schallner, Jens;
- Menschikowski, Mario;
- Gillitzer, Claus;
- Laass, Martin W.;
- Fischer, Judith;
- Tzschach, Andreas
Publication type:
Article
Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2736, doi. 10.1002/ajmg.a.38359
By:
- Porrmann, Joseph;
- Betcheva‐Krajcir, Elitza;
- Di Donato, Nataliya;
- Kahlert, Anne‐Karin;
- Schallner, Jens;
- Rump, Andreas;
- Schröck, Evelin;
- Dobritzsch, Doreen;
- Roelofsen, Jeroen;
- van Kuilenburg, André B. P.;
- Tzschach, Andreas
Publication type:
Article
Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2545, doi. 10.1002/ajmg.a.38348
By:
- Gieldon, Laura;
- Mackenroth, Luisa;
- Betcheva‐Krajcir, Elitza;
- Rump, Andreas;
- Beck‐Wödl, Stefanie;
- Schallner, Jens;
- Di Donato, Nataliya;
- Schröck, Evelin;
- Tzschach, Andreas
Publication type:
Article
Lissencephaly: Expanded imaging and clinical classification.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1473, doi. 10.1002/ajmg.a.38245
By:
- Di Donato, Nataliya;
- Chiari, Sara;
- Mirzaa, Ghayda M.;
- Aldinger, Kimberly;
- Parrini, Elena;
- Olds, Carissa;
- Barkovich, A. James;
- Guerrini, Renzo;
- Dobyns, William B.
Publication type:
Article
Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1334, doi. 10.1002/ajmg.a.38183
By:
- Podolska, Anna;
- Kobelt, Albrecht;
- Fuchs, Sigrid;
- Hackmann, Karl;
- Rump, Andreas;
- Schröck, Evelin;
- Kutsche, Kerstin;
- Di Donato, Nataliya
Publication type:
Article
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2644, doi. 10.1002/ajmg.a.37771
By:
- Di Donato, Nataliya;
- Kuechler, Alma;
- Vergano, Samantha;
- Heinritz, Wolfram;
- Bodurtha, Joann;
- Merchant, Sabiha R.;
- Breningstall, Galen;
- Ladda, Roger;
- Sell, Susan;
- Altmüller, Janine;
- Bögershausen, Nina;
- Timms, Andrew E.;
- Hackmann, Karl;
- Schrock, Evelin;
- Collins, Sarah;
- Olds, Carissa;
- Rump, Andreas;
- Dobyns, William B.
Publication type:
Article
Tentative Clinical Diagnosis of Lujan-Fryns Syndrome--A Conglomeration of Different Genetic Entities?
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 94, doi. 10.1002/ajmg.a.37378
By:
- Hackmann, Karl;
- Rump, Andreas;
- Haas, Stefan A.;
- Lemke, Johannes R.;
- Fryns, Jean‐Pierre;
- Tzschach, Andreas;
- Wieczorek, Dagmar;
- Albrecht, Beate;
- Kuechler, Alma;
- Ripperger, Tim;
- Kobelt, Albrecht;
- Oexle, Konrad;
- Tinschert, Sigrid;
- Schrock, Evelin;
- Kalscheuer, Vera M.;
- Di Donato, Nataliya
Publication type:
Article
6q22.33 microdeletion in a family with intellectual disability, variable major anomalies, and behavioral abnormalities.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2800, doi. 10.1002/ajmg.a.37266
By:
- Mackenroth, Luisa;
- Hackmann, Karl;
- Beyer, Anke;
- Schallner, Jens;
- Novotna, Barbara;
- Klink, Barbara;
- Schröck, Evelin;
- Di Donato, Nataliya
Publication type:
Article
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development.
Published in:
Nature Genetics, 2013, v. 45, n. 11, p. 1300, doi. 10.1038/ng.2765
By:
- Cappello, Silvia;
- Gray, Mary J;
- Badouel, Caroline;
- Lange, Simona;
- Einsiedler, Melanie;
- Srour, Myriam;
- Chitayat, David;
- Hamdan, Fadi F;
- Jenkins, Zandra A;
- Morgan, Tim;
- Preitner, Nadia;
- Uster, Tami;
- Thomas, Jackie;
- Shannon, Patrick;
- Morrison, Victoria;
- Di Donato, Nataliya;
- Van Maldergem, Lionel;
- Neuhann, Teresa;
- Newbury-Ecob, Ruth;
- Swinkells, Marielle
Publication type:
Article
Next-generation sequencing in X-linked intellectual disability.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1513, doi. 10.1038/ejhg.2015.5
By:
- Tzschach, Andreas;
- Grasshoff, Ute;
- Beck-Woedl, Stefanie;
- Dufke, Claudia;
- Bauer, Claudia;
- Kehrer, Martin;
- Evers, Christina;
- Moog, Ute;
- Oehl-Jaschkowitz, Barbara;
- Di Donato, Nataliya;
- Maiwald, Robert;
- Jung, Christine;
- Kuechler, Alma;
- Schulz, Solveig;
- Meinecke, Peter;
- Spranger, Stephanie;
- Kohlhase, Jürgen;
- Seidel, Jörg;
- Reif, Silke;
- Rieger, Manuela
Publication type:
Article
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 3, p. 292, doi. 10.1038/ejhg.2014.95
By:
- Verloes, Alain;
- Di Donato, Nataliya;
- Masliah-Planchon, Julien;
- Jongmans, Marjolijn;
- Abdul-Raman, Omar A;
- Albrecht, Beate;
- Allanson, Judith;
- Brunner, Han;
- Bertola, Debora;
- Chassaing, Nicolas;
- David, Albert;
- Devriendt, Koen;
- Eftekhari, Pirayeh;
- Drouin-Garraud, Valérie;
- Faravelli, Francesca;
- Faivre, Laurence;
- Giuliano, Fabienne;
- Guion Almeida, Leina;
- Juncos, Jorge;
- Kempers, Marlies
Publication type:
Article
Partial deletion of GLRB and GRIA2 in a patient with intellectual disability.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 1, p. 112, doi. 10.1038/ejhg.2012.97
By:
- Hackmann, Karl;
- Matko, Sarah;
- Gerlach, Eva-Maria;
- von der Hagen, Maja;
- Klink, Barbara;
- Schrock, Evelin;
- Rump, Andreas;
- Di Donato, Nataliya
Publication type:
Article
The non-muscle actinopathy-associated mutation E334Q in cytoskeletal γ-actin perturbs interaction of actin filaments with myosin and ADF/cofilin family proteins.
Published in:
eLife, 2024, p. 1, doi. 10.7554/eLife.93013
By:
- Greve, Johannes N.;
- Marquardt, Anja;
- Heiringhoff, Robin;
- Reindl, Theresia;
- Thiel, Claudia;
- Di Donato, Nataliya;
- Taft, Manuel H.;
- Manstein, Dietmar J.
Publication type:
Article
Correction: Diagnostic value of partial exome sequencing in developmental disorders.
Published in:
2020
By:
- Gieldon, Laura;
- Mackenroth, Luisa;
- Kahlert, Anne-Karin;
- Lemke, Johannes R.;
- Porrmann, Joseph;
- Schallner, Jens;
- von der Hagen, Maja;
- Markus, Susanne;
- Weidensee, Sabine;
- Novotna, Barbara;
- Soerensen, Charlotte;
- Klink, Barbara;
- Wagner, Johannes;
- Tzschach, Andreas;
- Jahn, Arne;
- Kuhlee, Franziska;
- Hackmann, Karl;
- Schrock, Evelin;
- Di Donato, Nataliya;
- Rump, Andreas
Publication type:
Correction Notice
Parental mosaicism in epilepsies due to alleged de novo variants.
Published in:
Epilepsia (Series 4), 2019, v. 60, n. 6, p. e63, doi. 10.1111/epi.15187
By:
- Møller, Rikke S.;
- Zacher, Pia;
- Syrbe, Steffen;
- Liebmann, Nora;
- Stiller, Mathias;
- Hentschel, Julia;
- Lemke, Johannes R.;
- Larsen, Line H. G.;
- Kako, Nahrain;
- Dahl, Hans A.;
- Abdin, Dalia;
- Di Donato, Nataliya;
- Pal, Deb K.
Publication type:
Article
Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 9, p. 1457, doi. 10.1093/hmg/ddac296
By:
- Coleman, Jessica A Cooley;
- Gass, Jennifer M;
- Srikanth, Sujata;
- Pauly, Rini;
- Ziats, Catherine A;
- Everman, David B;
- Skinner, Steven A;
- Bell, Shannon;
- Louie, Raymond J;
- Cascio, Lauren;
- Patterson, Wesley G;
- Jones, Julie R;
- Donato, Nataliya Di;
- Stevenson, Roger E;
- Boccuto, Luigi
Publication type:
Article
The constitutional gain‐of‐function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome.
Published in:
Clinical Genetics, 2023, v. 103, n. 2, p. 226, doi. 10.1111/cge.14241
By:
- Popp, Bernt;
- Brugger, Melanie;
- Poschmann, Sibylle;
- Bartolomaeus, Tobias;
- Radtke, Maximilian;
- Hentschel, Julia;
- Di Donato, Nataliya;
- Rump, Andreas;
- Gburek‐Augustat, Janina;
- Graf, Elisabeth;
- Wagner, Matias;
- Sorge, Ina;
- Lemke, Johannes R;
- Meitinger, Thomas;
- Abou Jamra, Rami;
- Strehlow, Vincent;
- Brunet, Theresa
Publication type:
Article
Current genetic diagnostics in inborn errors of immunity.
Published in:
Frontiers in Pediatrics, 2024, p. 1, doi. 10.3389/fped.2024.1279112
By:
- von Hardenberg, Sandra;
- Klefenz, Isabel;
- Steinemann, Doris;
- Di Donato, Nataliya;
- Baumann, Ulrich;
- Auber, Bernd;
- Klemann, Christian
Publication type:
Article
Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations.
Published in:
Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 1, p. 21, doi. 10.1002/mgg3.256
By:
- Rath, Matthias;
- Spiegler, Stefanie;
- Nath, Neetika;
- Schwefel, Konrad;
- Di Donato, Nataliya;
- Gerber, Johannes;
- Korenke, G. Christoph;
- Hellenbroich, Yorck;
- Hehr, Ute;
- Gross, Stephanie;
- Sure, Ulrich;
- Zoll, Barbara;
- Gilberg, Eberhard;
- Kaderali, Lars;
- Felbor, Ute
Publication type:
Article
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 11, p. 2888
By:
- Kaiser, Frank J.;
- Ansari, Morad;
- Braunholz, Diana;
- Concepción Gil-Rodríguez, María;
- Decroos, Christophe;
- Wilde, Jonathan J.;
- Fincher, Christopher T.;
- Kaur, Maninder;
- Bando, Masashige;
- Amor, David J.;
- Atwal, Paldeep S.;
- Bahlo, Melanie;
- Bowman, Christine M.;
- Bradley, Jacquelyn J.;
- Brunner, Han G.;
- Clark, Dinah;
- Del Campo, Miguel;
- Di Donato, Nataliya;
- Diakumis, Peter;
- Dubbs, Holly
Publication type:
Article
A child with Li-Fraumeni syndrome: Modes to inactivate the second allele of TP53 in three different malignancies.
Published in:
Pediatric Blood & Cancer, 2015, v. 62, n. 8, p. 1481, doi. 10.1002/pbc.25486
By:
- Schlegelberger, Brigitte;
- Kreipe, Hans;
- Lehmann, Ulrich;
- Steinemann, Doris;
- Ripperger, Tim;
- Göhring, Gudrun;
- Thomay, Kathrin;
- Rump, Andreas;
- Di Donato, Nataliya;
- Suttorp, Meinolf
Publication type:
Article
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.
Published in:
Nature, 2012, v. 489, n. 7415, p. 313, doi. 10.1038/nature11316
By:
- Deardorff, Matthew A.;
- Bando, Masashige;
- Nakato, Ryuichiro;
- Watrin, Erwan;
- Itoh, Takehiko;
- Minamino, Masashi;
- Saitoh, Katsuya;
- Komata, Makiko;
- Katou, Yuki;
- Clark, Dinah;
- Cole, Kathryn E.;
- De Baere, Elfride;
- Decroos, Christophe;
- Di Donato, Nataliya;
- Ernst, Sarah;
- Francey, Lauren J.;
- Gyftodimou, Yolanda;
- Hirashima, Kyotaro;
- Hullings, Melanie;
- Ishikawa, Yuuichi
Publication type:
Article
Further delineation of Malan syndrome.
Published in:
Human Mutation, 2018, v. 39, n. 9, p. 1226, doi. 10.1002/humu.23563
By:
- Priolo, Manuela;
- Schanze, Denny;
- Tatton‐Brown, Katrin;
- Mulder, Paul A.;
- Tenorio, Jair;
- Kooblall, Kreepa;
- Acero, Inés Hernández;
- Alkuraya, Fowzan S.;
- Arias, Pedro;
- Bernardini, Laura;
- Bijlsma, Emilia K.;
- Cole, Trevor;
- Coubes, Christine;
- Dapia, Irene;
- Davies, Sally;
- Di Donato, Nataliya;
- Elcioglu, Nursel H.;
- Fahrner, Jill A.;
- Foster, Alison;
- González, Noelia García
Publication type:
Article
Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of ' PIK3CA-Related Overgrowth Spectrum'.
Published in:
Human Mutation, 2016, v. 37, n. 3, p. 242, doi. 10.1002/humu.22933
By:
- Di Donato, Nataliya;
- Rump, Andreas;
- Mirzaa, Ghayda M.;
- Alcantara, Diana;
- Oliver, Antony;
- Schrock, Evelin;
- Dobyns, William B.;
- O'Driscoll, Mark
Publication type:
Article
Targeted and Genomewide NGS Data Disqualify Mutations in MYO1 A, the ' DFNA48 Gene', as a Cause of Deafness.
Published in:
Human Mutation, 2014, v. 35, n. 5, p. 565, doi. 10.1002/humu.22532
By:
- Eisenberger, Tobias;
- Di Donato, Nataliya;
- Baig, Shahid M.;
- Neuhaus, Christine;
- Beyer, Anke;
- Decker, Eva;
- Mürbe, Dirk;
- Decker, Christian;
- Bergmann, Carsten;
- Bolz, Hanno J.
Publication type:
Article
Diagnostic value of partial exome sequencing in developmental disorders.
Published in:
PLoS ONE, 2018, v. 13, n. 8, p. 1, doi. 10.1371/journal.pone.0201041
By:
- Gieldon, Laura;
- Mackenroth, Luisa;
- Kahlert, Anne-Karin;
- Lemke, Johannes R.;
- Porrmann, Joseph;
- Schallner, Jens;
- von der Hagen, Maja;
- Markus, Susanne;
- Weidensee, Sabine;
- Novotna, Barbara;
- Soerensen, Charlotte;
- Klink, Barbara;
- Wagner, Johannes;
- Tzschach, Andreas;
- Jahn, Arne;
- Kuhlee, Franziska;
- Hackmann, Karl;
- Schrock, Evelin;
- Di Donato, Nataliya;
- Rump, Andreas
Publication type:
Article
First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene.
Published in:
2019
By:
- Oziębło, Dominika;
- Sarosiak, Anna;
- Leja, Marcin L.;
- Budde, Birgit S.;
- Tacikowska, Grażyna;
- Di Donato, Nataliya;
- Bolz, Hanno J.;
- Nürnberg, Peter;
- Skarżyński, Henryk;
- Ołdak, Monika
Publication type:
journal article

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