Publications by authors named "Christine Fauth"

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Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.
Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, Jose A Rodriguez, Annarita Scardamaglia, Christine Fauth

medRxiv· July 2025

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Two novel cases with PIGQ-CDG: expansion of the genotype-phenotype spectrum and evaluation of GestaltMatcher as a diagnostic tool.
Katarína Kušíková, Tzung-Chien Hsieh, Mateja Pfeifer, Christine Fauth, Yoshiko Murakami

Front Genet· July 2025

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Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.
Charlotte Guillouet, Valeria Agostini, Geneviève Baujat, Dario Cocciadiferro, Tommaso Pippucci, Christine Fauth

Am J Hum Genet· April 2025

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Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.
Maria Lisa Dentici, Marcello Niceta, Francesca Romana Lepri, Cecilia Mancini, Manuela Priolo, Christine Fauth

Eur J Hum Genet· August 2024

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Gonadal and gonadosomatic mosaicism in NF1: report of two families.
Magdalena Seidl-Philipp, Nathalie Veyt, Simon Schnaiter, Anne Krogsdam, Simon Schwendinger, Christine Fauth

J Dtsch Dermatol Ges· March 2024

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Treatment of psychiatric comorbidities and interaction patterns in Coffin-Siris syndrome: A case report of a 4-year-old girl.
Ann-Christin Jahnke-Majorkovits, Christine Fauth, Manuela Gander, Kathrin Sevecke

Clin Case Rep· February 2024

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Generation of the human induced pluripotent stem cell line (IBKMOLi002-A) from PBMCs of a patient carrying the heterozygous L271H mutation of the voltage-gated calcium channel subunit Ca1.3-encoding CACNA1D gene.
Marcel Tisch, María Carmen De Mingo Alemany, Marta Suarez-Cubero, Christine Fauth, Michaela Defrancesco

Stem Cell Res· May 2022

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The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered.
Julia Brinkmann, Christina Lissewski, Valentina Pinna, Yoann Vial, Francesca Pantaleoni, Christine Fauth

Eur J Hum Genet· March 2021

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Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Magdalena Koczkowska, Tom Callens, Yunjia Chen, Alicia Gomes, Alesha D Hicks, Christine Fauth

Hum Mutat· January 2020

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PEDIA: prioritization of exome data by image analysis.
Tzung-Chien Hsieh, Martin A Mensah, Jean T Pantel, Dione Aguilar, Omri Bar, Christine Fauth

Genet Med· December 2019

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A further case of familial ring chromosome 20 mosaicism - molecular characterization of the ring and review of the literature.
Iris Unterberger, Judith Dobesberger, Harald Schober, Birgit Krabichler, Claudia Lamina, Christine Fauth

Eur J Med Genet· November 2019

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SYNE1-ataxia: Novel genotypic and phenotypic findings.
Elisabetta Indelicato, Wolfgang Nachbauer, Christine Fauth, Birgit Krabichler, Anna Schossig

Parkinsonism Relat Disord· May 2019

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MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy.
Matthias Baumann, Herbert Schreiber, Beate Schlotter-Weigel, Wolfgang N Löscher, Rolf Stucka, Christine Fauth

Clin Genet· January 2019

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Bi-allelic mutations in result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts.
Miroslav P Milev, Claudio Graziano, Daniela Karall, Willemijn F E Kuper, Noraldin Al-Deri, Christine Fauth

J Med Genet· November 2018

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Mitochondrial DNA mutation "m.3243A>G"-Heterogeneous clinical picture for cardiologists ("m.3243A>G": A phenotypic chameleon).
Katharina Niedermayr, Gerhard Pölzl, Sabine Scholl-Bürgi, Christine Fauth, Ulrich Schweigmann

Congenit Heart Dis· September 2018

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The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with constitutive variants.
Katrina Tatton-Brown, Anna Zachariou, Chey Loveday, Anthony Renwick, Shazia Mahamdallie, Christine Fauth

Wellcome Open Res· April 2018

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Diagnostic challenges in a child with early onset desmoplastic medulloblastoma and homozygous variants in MSH2 and MSH6.
Julia Taeubner, Katharina Wimmer, Martine Muleris, Olivier Lascols, Chrystelle Colas, Christine Fauth

Eur J Hum Genet· March 2018

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A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.
Cecilia Giunta, Matthias Baumann, Christine Fauth, Uschi Lindert, Ebtesam M Abdalla

Genet Med· January 2018

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

Prenat Diagn· October 2017

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A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency.
Katharina Wimmer, Andreas Beilken, Rainer Nustede, Tim Ripperger, Britta Lamottke, Christine Fauth

Fam Cancer· January 2017

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A Novel Variant in the HINT1 Gene in a Girl with Autosomal Recessive Axonal Neuropathy with Neuromyotonia: Thorough Neurological Examination Gives the Clue.
Markus Rauchenzauner, Martin Frühwirth, Martin Hecht, Markus Kofler, Martina Witsch-Baumgartner, Christine Fauth

Neuropediatrics· April 2016

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High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testing.
Laura Pölsler, Heidi Fiegl, Katharina Wimmer, Willi Oberaigner, Albert Amberger, Christine Fauth

Eur J Hum Genet· February 2016

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A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.
Christine Fauth, Katharina Steindl, Annick Toutain, Sandra Farrell, Martina Witsch-Baumgartner

Am J Med Genet A· February 2016

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ALG8-CDG: novel patients and review of the literature.
Michaela Höck, Karina Wegleiter, Elisabeth Ralser, Ursula Kiechl-Kohlendorfer, Sabine Scholl-Bürgi, Christine Fauth

Orphanet J Rare Dis· June 2015

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