Daniela T Pilz

Daniela T Pilz

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Daniela T Pilz

Daniela T Pilz

Publications by authors named "Daniela T Pilz"

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49Publications

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De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.

Am J Hum Genet 2019 Feb 17;104(2):246-259. Epub 2019 Jan 17.

Department of Surgery/Division of Orthopaedic Surgery, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.12.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369454PMC
February 2019

Tubulin genes and malformations of cortical development.

Eur J Med Genet 2018 Dec 17;61(12):744-754. Epub 2018 Jul 17.

Department of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.07.012DOI Listing
December 2018

Chromosome 17q12 duplications: Further delineation of the range of psychiatric and clinical phenotypes.

Am J Med Genet B Neuropsychiatr Genet 2018 07;177(5):520-528

Institute of Medical Genetics, All Wales Medical Genetics Service, University Hospital of Wales, Cardiff, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.b.32643DOI Listing
July 2018

A rare example of germ-line chromothripsis resulting in large genomic imbalance.

Clin Dysmorphol 2016 Apr;25(2):58-62

Laboratory Genetics, Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.

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http://dx.doi.org/10.1097/MCD.0000000000000113DOI Listing
April 2016

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

J Med Genet 2014 Oct 14;51(10):659-68. Epub 2014 Aug 14.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.

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http://dx.doi.org/10.1136/jmedgenet-2014-102573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173748PMC
October 2014

The genetics of lissencephaly.

Am J Med Genet C Semin Med Genet 2014 Jun 23;166C(2):198-210. Epub 2014 May 23.

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http://dx.doi.org/10.1002/ajmg.c.31402DOI Listing
June 2014

De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy.

Am J Hum Genet 2014 Apr;94(4):634-41

Center for Integrative Brain Research, Seattle Children's Hospital, Seattle, WA 98101, USA; Departments of Pediatrics and Neurology, University of Washington, Seattle, WA 98195, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.03.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3980418PMC
April 2014

Neuropsychiatric disease in patients with periventricular heterotopia.

J Neuropsychiatry Clin Neurosci 2013 ;25(1):26-31

Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.

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http://dx.doi.org/10.1176/appi.neuropsych.11110336DOI Listing
September 2013

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

Brain 2013 Feb 29;136(Pt 2):536-48. Epub 2013 Jan 29.

Institute of Life Science, College of Medicine, Swansea University, Swansea SA2 8PP, UK.

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http://dx.doi.org/10.1093/brain/aws338DOI Listing
February 2013

Ramos-Arroyo syndrome: confirmation of an entity.

Am J Med Genet A 2011 Oct 9;155A(10):2556-9. Epub 2011 Sep 9.

Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff, UK.

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http://dx.doi.org/10.1002/ajmg.a.34209DOI Listing
October 2011

Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia.

Am J Hum Genet 2009 Nov 5;85(5):737-44. Epub 2009 Nov 5.

Section of Genetics (Leeds Institute of Molecular Medicine [LIMM]), Wellcome Trust Brenner Building, St James's University Hospital, Leeds, LS9 7TF, UK.

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http://dx.doi.org/10.1016/j.ajhg.2009.10.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2775839PMC
November 2009

Connective tissue involvement in two patients with features of cranioectodermal dysplasia.

Am J Med Genet A 2009 Oct;149A(10):2212-5

Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.

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http://dx.doi.org/10.1002/ajmg.a.33027DOI Listing
October 2009

Familial unilateral Brown syndrome.

Indian J Ophthalmol 2008 Sep-Oct;56(5):430-4

St Paul's Eye Unit, Royal Liverpool University Hospital, Liverpool, L7 8XP, United Kingdom.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2636128PMC
http://dx.doi.org/10.4103/0301-4738.42427DOI Listing
September 2008

Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis.

Hum Mol Genet 2006 Apr 15;15(8):1319-28. Epub 2006 Mar 15.

Department of Biochemistry and Molecular Biology, Norris Cancer Hospital, University of Southern Califoirnia Keck School of Medicine, 1441 Eastlake Avenue, Los Angeles, CA 90089-0176, USA.

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http://dx.doi.org/10.1093/hmg/ddl052DOI Listing
April 2006