Publications by authors named "Christian T Thiel"

52Publications

A novel splice variant expands the LAMC3-associated cortical phenotype to frontal only polymicrogyria and adult-onset epilepsy.

Am J Med Genet A 2020 Sep 9. Epub 2020 Sep 9.

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

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http://dx.doi.org/10.1002/ajmg.a.61846DOI Listing
September 2020

A case of severe autosomal recessive spinocerebellar ataxia type 18 with a novel nonsense variant in GRID2.

Eur J Med Genet 2020 Sep 2;63(9):103998. Epub 2020 Jul 2.

Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg FAU, Erlangen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.103998DOI Listing
September 2020

Camptocormia as the presenting symptom in sporadic late onset nemaline myopathy: a case report.

BMC Musculoskelet Disord 2019 Nov 20;20(1):553. Epub 2019 Nov 20.

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

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http://dx.doi.org/10.1186/s12891-019-2942-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6868766PMC
November 2019

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

Genet Med 2020 03 14;22(3):538-546. 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7060121PMC
March 2020

PEDIA: prioritization of exome data by image analysis.

Genet Med 2019 12 5;21(12):2807-2814. 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6892739PMC
December 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

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

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

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