Publications by authors named "Christine Fauth"

50Publications

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 2020 01 26;41(1):299-315. Epub 2019 Oct 26.

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

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http://dx.doi.org/10.1002/humu.23929DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6973139PMC
January 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

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.

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

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

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http://doi.wiley.com/10.1111/chd.12634
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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.

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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.

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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.

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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.

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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:

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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.

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

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.

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

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.

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

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

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

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

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

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

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.

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

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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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http://link.springer.com/10.1007/s00439-005-0103-z
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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.

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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.

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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.

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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.

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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.

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February 2002