Christine Fauth

Christine Fauth

UNVERIFIED PROFILE

Are you Christine Fauth?   Register this Author

Register author
Christine Fauth

Christine Fauth

Publications by authors named "Christine Fauth"

Are you Christine Fauth?   Register this Author

49Publications

1215Reads

10Profile Views

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-019-0566-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6892739PMC
December 2019

A further case of familial ring chromosome 20 mosaicism - molecular characterization of the ring and review of the literature.

Eur J Med Genet 2019 Nov 29;62(11):103564. Epub 2018 Oct 29.

Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Peter-Mayr-Straße 1, A-6020 Innsbruck, Austria. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212183025
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2018.10.016DOI Listing
November 2019

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Authors:
Magdalena Koczkowska Tom Callens Yunjia Chen Alicia Gomes Alesha D Hicks Angela Sharp Eric Johns Kim Armfield Uhas Linlea Armstrong Katherine Armstrong Bosanko Dusica Babovic-Vuksanovic Laura Baker Donald G Basel Mario Bengala James T Bennett Chelsea Chambers Lola K Clarkson Maurizio Clementi Fanny M Cortés Mitch Cunningham M Daniela D'Agostino Martin B Delatycki Maria C Digilio Laura Dosa Silvia Esposito Stephanie Fox Mary-Louise Freckmann Christine Fauth Teresa Giugliano Sandra Giustini Allison Goetsch Yael Goldberg Robert S Greenwood Cristin Griffis Karen W Gripp Punita Gupta Eric Haan Rachel K Hachen Tamara L Haygarth Concepción Hernández-Chico Katelyn Hodge Robert J Hopkin Louanne Hudgins Sandra Janssens Kory Keller Geraldine Kelly-Mancuso Aaina Kochhar Bruce R Korf Andrea M Lewis Jan Liebelt Angie Lichty Robert H Listernick Michael J Lyons Isabelle Maystadt Mayra Martinez Ojeda Carey McDougall Lesley K McGregor Daniela Melis Nancy Mendelsohn Malgorzata J M Nowaczyk June Ortenberg Karin Panzer John G Pappas Mary Ella Pierpont Giulio Piluso Valentina Pinna Eniko K Pivnick Dinel A Pond Cynthia M Powell Caleb Rogers Noa Ruhrman Shahar S Lane Rutledge Veronica Saletti Sarah A Sandaradura Claudia Santoro Ulrich A Schatz Allison Schreiber Daryl A Scott Elizabeth A Sellars Ruth Sheffer Elizabeth Siqveland John M Slopis Rosemarie Smith Alberto Spalice David W Stockton Haley Streff Amy Theos Gail E Tomlinson Grace Tran Pamela L Trapane Eva Trevisson Nicole J Ullrich Jenneke Van den Ende Samantha A Schrier Vergano Stephanie E Wallace Michael F Wangler David D Weaver Kaleb H Yohay Elaine Zackai Jonathan Zonana Vickie Zurcher Kathleen B M Claes Marica Eoli Yolanda Martin Katharina Wimmer Alessandro De Luca Eric Legius Ludwine M Messiaen

Hum Mutat 2019 Oct 8. Epub 2019 Oct 8.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23929DOI Listing
October 2019

SYNE1-ataxia: Novel genotypic and phenotypic findings.

Parkinsonism Relat Disord 2019 05 11;62:210-214. Epub 2018 Dec 11.

Department of Neurology, Innsbruck Medical University, Anichstraße 35, AT6020, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.parkreldis.2018.12.007DOI Listing
May 2019

Mitochondrial DNA mutation "m.3243A>G"-Heterogeneous clinical picture for cardiologists ("m.3243A>G": A phenotypic chameleon).

Congenit Heart Dis 2018 Sep 21;13(5):671-677. Epub 2018 Aug 21.

Department of Child and Adolescent Health, Pediatrics I/III, Medical University of Innsbruck, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/chd.12634
Publisher Site
http://dx.doi.org/10.1111/chd.12634DOI Listing
September 2018

Diagnostic challenges in a child with early onset desmoplastic medulloblastoma and homozygous variants in MSH2 and MSH6.

Eur J Hum Genet 2018 03 4;26(3):440-444. Epub 2018 Jan 4.

Department of Paediatric Oncology, Haematology and Clinical Immunology, University Children´s Hospital, Medical Faculty, Heinrich Heine University, Duesseldorf, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-017-0071-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839041PMC
March 2018

Comment on "Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome".

Prenat Diagn 2017 10;37(10):1055-1056

Department of Genetics, Tours University Hospital, Tours, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.5137DOI Listing
October 2017

A Novel Variant in the HINT1 Gene in a Girl with Autosomal Recessive Axonal Neuropathy with Neuromyotonia: Thorough Neurological Examination Gives the Clue.

Neuropediatrics 2016 Apr 13;47(2):119-22. Epub 2016 Jan 13.

Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University of Innsbruck, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0035-1570493DOI Listing
April 2016

ALG8-CDG: novel patients and review of the literature.

Orphanet J Rare Dis 2015 Jun 12;10:73. Epub 2015 Jun 12.

Medical University of Innsbruck, Clinic for Pediatrics I, Inherited Metabolic Disorders, Anichstrasse 35, 6020, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-015-0289-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4504351PMC
June 2015

Genotype-based databases for variants causing rare diseases.

Gene 2014 Oct 8;550(1):136-40. Epub 2014 Aug 8.

Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2014.08.016DOI Listing
October 2014

FKBP14-related Ehlers-Danlos syndrome: expansion of the phenotype to include vascular complications.

Am J Med Genet A 2014 Jul 26;164A(7):1750-5. Epub 2014 Mar 26.

Department of Pathology, University of Washington, Seattle, Washington; Department of Medicine (Medical Genetics), University of Washington, Seattle, Washington.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36492DOI Listing
July 2014

Severe intellectual disability, West syndrome, Dandy-Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3.

Am J Med Genet A 2013 Dec 16;161A(12):3144-9. Epub 2013 Aug 16.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36155DOI Listing
December 2013

Severe growth retardation, delayed bone age, and facial dysmorphism in two patients with microduplications in 2p16 → p22.

Am J Med Genet A 2013 Dec 24;161A(12):3176-81. Epub 2013 Sep 24.

Department of Pediatrics, Landeskrankenhaus Feldkirch, Academic Teaching Hospital, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36176DOI Listing
December 2013

Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.

Eur J Hum Genet 2013 Oct 20;21(10):1177-80. Epub 2013 Feb 20.

Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/ejhg201318
Publisher Site
http://dx.doi.org/10.1038/ejhg.2013.18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3778356PMC
October 2013

Single-nucleotide polymorphism array-based characterization of ring chromosome 18.

J Pediatr 2013 Oct 19;163(4):1174-8.e3. Epub 2013 Jul 19.

Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2013.06.005DOI Listing
October 2013

Single nucleotide polymorphism array analysis in men with idiopathic azoospermia or oligoasthenozoospermia syndrome.

Fertil Steril 2013 Jul 8;100(1):81-7. Epub 2013 Apr 8.

Department of Medical Genetics, Molecular and Clinical Pharmacology, Division of Human Genetics, Innsbruck Medical University, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://ac.els-cdn.com/S0015028213004172/1-s2.0-S001502821300
Web Search
http://linkinghub.elsevier.com/retrieve/pii/S001502821300417
Publisher Site
http://dx.doi.org/10.1016/j.fertnstert.2013.03.016DOI Listing
July 2013

Combined Dup(7)(q22.1q32.2), Inv(7)(q31.31q31.33), and Ins(7;19)(q22.1;p13.2p13.2) in a 12-year-old boy with developmental delay and various dysmorphism.

Eur J Med Genet 2013 Jul 19;56(7):383-8. Epub 2013 Apr 19.

Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Schoepfstr. 41, A-6020 Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2013.04.003DOI Listing
July 2013

Inherited ichthyoses/generalized Mendelian disorders of cornification.

Eur J Hum Genet 2013 Feb 27;21(2):123-33. Epub 2012 Jun 27.

Department of Dermatology and Venereology, Innsbruck Medical University, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/ejhg2012121
Publisher Site
http://dx.doi.org/10.1038/ejhg.2012.121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548255PMC
February 2013

Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype.

Am J Med Genet A 2012 Sep 20;158A(9):2239-44. Epub 2012 Jul 20.

Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35450DOI Listing
September 2012

Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy.

Ann Hum Genet 2012 Jul 21;76(4):326-31. Epub 2012 May 21.

Department of Medical Genetics, Molecular and Clinical Pharmacology, Division of Human Genetics, Medical University Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1469-1809.2012.00710.xDOI Listing
July 2012

Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibs.

Am J Med Genet A 2011 Oct 9;155A(10):2465-8. Epub 2011 Sep 9.

Amrita Institute of Medical Sciences & Research Center, Department of Pediatric Genetics, AIMS Ponekkara, Cochin, Kerala, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.34205DOI Listing
October 2011

Phenotypic variability of a deletion and duplication 6q16.1 → q21 due to a paternal balanced ins(7;6)(p15;q16.1q21).

Am J Med Genet A 2010 Nov;152A(11):2762-7

Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33699DOI Listing
November 2010

The changing phenotype in diploid/triploid mosaicism may mimic genetic syndromes with aberrant genomic imprinting: follow up in a 14-year-old girl.

Eur J Med Genet 2008 Nov-Dec;51(6):573-9. Epub 2008 Jul 26.

Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2008.07.004DOI Listing
March 2009

Unravelling the parental origin and mechanism of formation of the 47,XY,i(X)(q10) Klinefelter karyotype variant.

Fertil Steril 2008 Nov 6;90(5):2009.e13-7. Epub 2008 Aug 6.

Department of Medical Genetics, Division of Clinical Genetics, Molecular and Clinical Pharmacology, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.fertnstert.2008.05.054DOI Listing
November 2008

Molecular characterization of a de novo ring chromosome 6 in a growth retarded but otherwise healthy woman.

Am J Med Genet A 2008 Apr;146A(7):925-9

Division of Clinical Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University of Innsbruck, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32251DOI Listing
April 2008

Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris.

Eur J Hum Genet 2007 Feb 13;15(2):179-84. Epub 2006 Dec 13.

Department of Dermatology, Innsbruck Medical University, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/sj.ejhg.5201742DOI Listing
February 2007

Pre- and postnatal findings in trisomy 17 mosaicism.

Am J Med Genet A 2006 Aug;140(15):1628-36

Division of Clinical Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31319DOI Listing
August 2006

Micro-array analyses decipher exceptional complex familial chromosomal rearrangement.

Hum Genet 2006 Mar 3;119(1-2):145-53. Epub 2006 Jan 3.

Institut für Humangenetik, Technische Universität München, Trogerstr. 32, 81675 München, Germany.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00439-005-0103-z
Publisher Site
http://dx.doi.org/10.1007/s00439-005-0103-zDOI Listing
March 2006

Del(18)(q12.2q21.1) caused by a paternal sister chromatid rearrangement in a developmentally delayed girl.

Am J Med Genet A 2005 Jun;135(3):304-7

Institute of Medical Biology and Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.30727DOI Listing
June 2005

Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) gene.

Eur J Hum Genet 2005 Mar;13(3):309-13

Institute of Human Genetics, University of Technology, Aachen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/sj.ejhg.5201268DOI Listing
March 2005

Order of genetic events is critical determinant of aberrations in chromosome count and structure.

Genes Chromosomes Cancer 2004 Aug;40(4):298-306

Institute of Human Genetics, Technical University, Munich, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/gcc.20051DOI Listing
August 2004

Multicolor FISH in two and three dimensions for clastogenic analyses.

Mutagenesis 2002 Nov;17(6):523-7

Institut für Humangenetik, Technische Universität München, Trogerstrasse 32, D-81675 München, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/mutage/17.6.523DOI Listing
November 2002

Targeted inactivation of p53 in human cells does not result in aneuploidy.

Cancer Res 2002 Feb;62(4):1129-33

The Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Johns Hopkins University, Baltimore, Maryland 21231, USA.

View Article

Download full-text PDF

Source
February 2002