Nataliya Di Donato

Nataliya Di Donato

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Nataliya Di Donato

Nataliya Di Donato

Publications by authors named "Nataliya Di Donato"

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51Publications

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

Am J Hum Genet 2019 Nov 3;105(5):987-995. Epub 2019 Oct 3.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Laboratory of Rare Disease Research, Institute for Quantitative Biosciences, The University of Tokyo, Tokyo 113-8657, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.09.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6848994PMC
November 2019

First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene.

J Transl Med 2019 Oct 26;17(1):351. Epub 2019 Oct 26.

Department of Genetics, World Hearing Center, Institute of Physiology and Pathology of Hearing, M. Mochnackiego 10, 02-042, Warsaw, Poland.

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http://dx.doi.org/10.1186/s12967-019-2099-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6815010PMC
October 2019

Parental mosaicism in epilepsies due to alleged de novo variants.

Epilepsia 2019 Jun 11;60(6):e63-e66. Epub 2019 May 11.

Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.

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http://dx.doi.org/10.1111/epi.15187DOI Listing
June 2019

Novel truncating PPM1D mutation in a patient with intellectual disability.

Eur J Med Genet 2019 Jan 11;62(1):70-72. Epub 2018 May 11.

Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstraße 74, 01307 Dresden, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.05.006DOI Listing
January 2019

Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1.

Eur J Hum Genet 2018 08 30;26(8):1132-1142. Epub 2018 Apr 30.

Neurogenetics Research Group, Reproduction Genetics and Regenerative Medicine Research Cluster, Vrije Universiteit Brussel, Brussels, Belgium.

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http://dx.doi.org/10.1038/s41431-018-0146-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057922PMC
August 2018

Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene.

Eur J Paediatr Neurol 2018 Jan 22;22(1):186-189. Epub 2017 Nov 22.

Abteilung Neuropädiatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstr. 74, 01307 Dresden, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2017.11.003DOI Listing
January 2018

Pierpont syndrome: report of a new patient.

Clin Dysmorphol 2017 Oct;26(4):205-208

aInstitute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden bDepartment of Congenital Heart Disease and Pediatric Cardiology, Universitätsklinikum Schleswig-Holstein Kiel, Kiel cMitteldeutscher Praxisverbund Humangenetik, Praxis Erfurt, Erfurt, Germany.

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http://dx.doi.org/10.1097/MCD.0000000000000184DOI Listing
October 2017

Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.

Am J Med Genet A 2017 Sep 4;173(9):2545-2550. Epub 2017 Aug 4.

Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

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http://dx.doi.org/10.1002/ajmg.a.38348DOI Listing
September 2017

encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

J Med Genet 2017 07 4;54(7):460-470. Epub 2017 Apr 4.

Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2016-104509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656050PMC
July 2017

Lissencephaly: Expanded imaging and clinical classification.

Am J Med Genet A 2017 Jun 25;173(6):1473-1488. Epub 2017 Apr 25.

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.38245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5526446PMC
June 2017

Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome.

Epilepsy Behav 2017 04 23;69:104-109. Epub 2017 Feb 23.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.

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http://dx.doi.org/10.1016/j.yebeh.2017.01.022DOI Listing
April 2017

Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations.

Mol Genet Genomic Med 2017 Jan 20;5(1):21-27. Epub 2016 Dec 20.

Department of Human Genetics University Medicine Greifswald and Interfaculty Institute of Genetics and Functional Genomics University of Greifswald Greifswald Germany.

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http://dx.doi.org/10.1002/mgg3.256DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5241208PMC
January 2017

Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.

Neuromuscul Disord 2016 11 19;26(11):744-748. Epub 2016 Sep 19.

Centre for Medical Research, The University of Western Australia and Harry Perkins Institute for Medical Research, Nedlands, Western Australia, Australia; Department of Diagnostic Genomics, Pathwest, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1016/j.nmd.2016.09.009DOI Listing
November 2016

Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH.

Breast Cancer Res Treat 2016 Oct 31;159(3):585-90. Epub 2016 Aug 31.

Institut fuer Klinische Genetik, Medizinische Fakultaet Carl Gustav Carus, Technische Universitaet Dresden, Fetscherstr. 74, 01307, Dresden, Germany.

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http://dx.doi.org/10.1007/s10549-016-3956-zDOI Listing
October 2016

Mammalian cadherins DCHS1-FAT4 affect functional cerebral architecture.

Brain Struct Funct 2016 06 1;221(5):2487-91. Epub 2015 May 1.

Faculty of Medicine, Institute for Clinical Genetics, TU Dresden, Dresden, Germany.

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http://dx.doi.org/10.1007/s00429-015-1051-6DOI Listing
June 2016

Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?

Am J Med Genet A 2016 Jan 11;170A(1):94-102. Epub 2015 Sep 11.

Institut fuer Klinische Genetik, Medizinische Fakultaet Carl Gustav Carus, Technische Universitaet Dresden, Dresden, Germany.

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http://dx.doi.org/10.1002/ajmg.a.37378DOI Listing
January 2016

6q22.33 microdeletion in a family with intellectual disability, variable major anomalies, and behavioral abnormalities.

Am J Med Genet A 2015 Nov 3;167A(11):2800-7. Epub 2015 Sep 3.

Institut f, ü, r Klinische Genetik, Medizinische Fakult, ä, t Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

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http://dx.doi.org/10.1002/ajmg.a.37266DOI Listing
November 2015

A child with Li-Fraumeni syndrome: Modes to inactivate the second allele of TP53 in three different malignancies.

Pediatr Blood Cancer 2015 Aug 18;62(8):1481-4. Epub 2015 Mar 18.

Department of Pediatric Hematology and Oncology, University Hospital Dresden, Germany.

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http://dx.doi.org/10.1002/pbc.25486DOI Listing
August 2015

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Am J Hum Genet 2015 Aug 30;97(2):343-52. Epub 2015 Jul 30.

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

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http://linkinghub.elsevier.com/retrieve/pii/S000292971500280
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http://dx.doi.org/10.1016/j.ajhg.2015.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573244PMC
August 2015

Microduplications of 3p26.3p26.2 containing CRBN gene in patients with intellectual disability and behavior abnormalities.

Eur J Med Genet 2015 May 6;58(5):319-23. Epub 2015 Apr 6.

Institut fuer Klinische Genetik, Medizinische Fakultaet Carl Gustav Carus, TU Dresden, Dresden, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2015.03.005DOI Listing
May 2015

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

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

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http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 2014

Clinical phenotypes of MAGEL2 mutations and deletions.

Orphanet J Rare Dis 2014 Mar 25;9:40. Epub 2014 Mar 25.

Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.

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http://dx.doi.org/10.1186/1750-1172-9-40DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3987887PMC
March 2014

Partial deletion of GLRB and GRIA2 in a patient with intellectual disability.

Eur J Hum Genet 2013 Jan 6;21(1):112-4. Epub 2012 Jun 6.

Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

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http://dx.doi.org/10.1038/ejhg.2012.97DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3522202PMC
January 2013