Christian T Thiel

Christian T Thiel

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Christian T Thiel

Christian T Thiel

Publications by authors named "Christian T Thiel"

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De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Genet Med 2019 Nov 14. Epub 2019 Nov 14.

Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.

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http://dx.doi.org/10.1038/s41436-019-0693-9DOI Listing
November 2019

PEDIA: prioritization of exome data by image analysis.

Genet Med 2019 Jun 5. Epub 2019 Jun 5.

Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1038/s41436-019-0566-2DOI Listing
June 2019

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.

Orphanet J Rare Dis 2019 02 11;14(1):38. Epub 2019 Feb 11.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany.

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http://dx.doi.org/10.1186/s13023-019-1020-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6371496PMC
February 2019

A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings.

Am J Med Genet A 2019 01 11;179(1):50-56. Epub 2018 Dec 11.

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

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.60679
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http://dx.doi.org/10.1002/ajmg.a.60679DOI Listing
January 2019

Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu.

Am J Med Genet A 2018 12 18;176(12):2872-2876. Epub 2018 Nov 18.

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

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http://doi.wiley.com/10.1002/ajmg.a.40640
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http://dx.doi.org/10.1002/ajmg.a.40640DOI Listing
December 2018

Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome.

Eur J Med Genet 2018 Jul 31;61(7):363-368. Epub 2018 Jan 31.

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

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http://dx.doi.org/10.1016/j.ejmg.2018.01.016DOI Listing
July 2018

Exome Pool-Seq in neurodevelopmental disorders.

Eur J Hum Genet 2017 12 20;25(12):1364-1376. Epub 2017 Nov 20.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054, Erlangen, Germany.

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http://dx.doi.org/10.1038/s41431-017-0022-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5865117PMC
December 2017

Genetic analysis of VCP and WASH complex genes in a German cohort of sporadic ALS-FTD patients.

Neurobiol Aging 2017 08 3;56:213.e1-213.e5. Epub 2017 May 3.

Center for Biochemistry, Institute of Biochemistry I, Medical Faculty, University of Cologne, Cologne, Germany; Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, Bochum, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2017.04.023DOI Listing
August 2017

Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1.

Eur J Med Genet 2016 Oct 7;59(10):549-53. Epub 2016 Sep 7.

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

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http://dx.doi.org/10.1016/j.ejmg.2016.09.002DOI Listing
October 2016

Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy.

Acta Neuropathol Commun 2016 04 27;4(1):44. Epub 2016 Apr 27.

Institute of Neuropathology, Friedrich-Alexander University Erlangen-Nürnberg (FAU), Schwabachanlage 6, 91054, Erlangen, Germany.

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http://dx.doi.org/10.1186/s40478-016-0314-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4847350PMC
April 2016

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

Nat Cell Biol 2015 Aug 13;17(8):1074-1087. Epub 2015 Jul 13.

Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.

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http://www.nature.com/articles/ncb3201
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http://dx.doi.org/10.1038/ncb3201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4536769PMC
August 2015

Comprehensive screening for mutations associated with colorectal cancer in unselected cases reveals penetrant and nonpenetrant mutations.

Int J Cancer 2015 Mar 30;136(6):E559-68. Epub 2014 Aug 30.

Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.

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http://dx.doi.org/10.1002/ijc.29149DOI Listing
March 2015

Biallelic SEMA3A defects cause a novel type of syndromic short stature.

Am J Med Genet A 2013 Nov 3;161A(11):2880-9. Epub 2013 Oct 3.

Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.36250DOI Listing
November 2013

A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterization.

Am J Med Genet A 2013 Oct 16;161A(10):2645-51. Epub 2013 Aug 16.

Service de Génétique Médicale, CHU de Nantes, Nantes, France; INSERM, UMR-S 957, Nantes, France.

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http://dx.doi.org/10.1002/ajmg.a.36132DOI Listing
October 2013

Rare copy number variants are a common cause of short stature.

PLoS Genet 2013 14;9(3):e1003365. Epub 2013 Mar 14.

Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany.

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http://dx.doi.org/10.1371/journal.pgen.1003365DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3597495PMC
June 2013

Acanthosis nigricans, Abnormal Facial Appearance and Dentition in an Insulin Resistance Syndrome.

Iran J Pediatr 2013 Jun;23(3):363-5

Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3684487PMC
June 2013

Familial short stature due to a 5q22.1-q23.2 duplication refines the 5q duplication spectrum.

Eur J Med Genet 2011 Sep-Oct;54(5):e521-4. Epub 2011 Jul 12.

Institute of Human Genetics, University Erlangen-Nuremberg, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2011.06.007DOI Listing
December 2011

The smallest teeth in the world are caused by mutations in the PCNT gene.

Am J Med Genet A 2011 Jun 12;155A(6):1398-403. Epub 2011 May 12.

Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Craniofacial Genetics Laboratory, Faculty of Dentistry, Chiang Mai University, Thailand.

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http://dx.doi.org/10.1002/ajmg.a.33984DOI Listing
June 2011

The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum.

Best Pract Res Clin Endocrinol Metab 2011 Feb;25(1):131-42

Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Schwabachanlage 10, Erlangen, Germany.

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http://dx.doi.org/10.1016/j.beem.2010.08.004DOI Listing
February 2011

Disruption of ST5 is associated with mental retardation and multiple congenital anomalies.

J Med Genet 2010 Feb 19;47(2):91-8. Epub 2009 Oct 19.

Institute of Medical Genetics, University of Zurich, Schorenstrasse 16, CH-8603 Schwerzenbach-Zurich, Switzerland.

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http://dx.doi.org/10.1136/jmg.2009.069799DOI Listing
February 2010

Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome.

Am J Med Genet A 2009 Oct;149A(10):2122-8

Medical Genetics Institute, Cedars-Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.

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http://dx.doi.org/10.1002/ajmg.a.32992DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2768228PMC
October 2009

A de novo 7.6Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay.

Eur J Med Genet 2008 Jul-Aug;51(4):362-7. Epub 2008 Mar 20.

Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Schwabachanlage 10, Erlangen 91054, Germany.

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http://linkinghub.elsevier.com/retrieve/pii/S176972120800046
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http://dx.doi.org/10.1016/j.ejmg.2008.03.001DOI Listing
October 2008

Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndrome.

Mol Genet Metab 2008 Jul 14;94(3):356-62. Epub 2008 Apr 14.

Institute of Human Genetics, Friedrich-Alexander University of Erlangen-Nuremberg, Schwabachanlage 10, D-91054 Erlangen, Germany.

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http://dx.doi.org/10.1016/j.ymgme.2008.02.013DOI Listing
July 2008

Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum.

Am J Hum Genet 2007 Sep 6;81(3):519-29. Epub 2007 Aug 6.

Institute of Human Genetics, University Hospital Erlangen, University of Erlangen-Nuremberg, Erlangen, Germany.

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http://dx.doi.org/10.1086/521034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1950841PMC
September 2007

Exclusion of TCOF1 mutations in a case of bilateral Goldenhar syndrome and one familial case of microtia with meatal atresia.

Clin Dysmorphol 2005 Apr;14(2):67-71

Institute of Human Genetics, Friedrich-Alexander University of Erlangen-Nuremberg, Germany.

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http://dx.doi.org/10.1097/00019605-200504000-00003DOI Listing
April 2005

A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP.

Eur J Hum Genet 2003 Feb;11(2):170-8

Institute of Human Genetics, University of Erlangen-Nuremberg, Schwabachanlage 10, 91054 Erlangen, Germany.

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http://dx.doi.org/10.1038/sj.ejhg.5200920DOI Listing
February 2003