Publications by authors named "Stephanie Demuth"

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A nonsense variant in KRT31 is associated with autosomal dominant monilethrix.
Xing Xiong, Nicole Cesarato, Yasmina Gossmann, Maria Wehner, Sheetal Kumar, Stephanie Demuth

Br J Dermatol· November 2024

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C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation.
Eva Lausberg, Sebastian Gießelmann, Joseph P Dewulf, Elsa Wiame, Anja Holz, Stephanie Demuth

J Clin Invest· June 2021

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One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome.
Robert Meyer, Matthias Begemann, Christian Thomas Hübner, Daniela Dey, Alma Kuechler, Stephanie Demuth

Orphanet J Rare Dis· January 2021

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Inherited cases of CNOT3-associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies.
Robert Meyer, Matthias Begemann, Stephanie Demuth, Florian Kraft, Daniela Dey

Clin Genet· October 2020

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Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
Andreas Traschütz, Tommaso Schirinzi, Lucia Laugwitz, Nathan H Murray, Craig A Bingman, Stephanie Demuth

Ann Neurol· August 2020

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Novel Mutation c.1162_1172del; p.Pro388* in Two Patients with Symptoms of Atypical Rett Syndrome.
Ulrike Bernstein, Stephanie Demuth, Oliver Puk, Birgit Eichhorn, Solveig Schulz

Mol Syndromol· July 2019

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Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.
Simone Martinelli, Oliver H F Krumbach, Francesca Pantaleoni, Simona Coppola, Ehsan Amin, Stephanie Demuth

Am J Hum Genet· February 2018

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Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.
Denise Horn, Dagmar Wieczorek, Kay Metcalfe, Ivo Barić, Lidija Paležac, Stephanie Demuth

Eur J Hum Genet· June 2014

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Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease.
Alessia Indrieri, Vanessa Alexandra van Rahden, Valeria Tiranti, Manuela Morleo, Daniela Iaconis, Stephanie Demuth

Am J Hum Genet· November 2012

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Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.
Rita Horvath, Birgit Czermin, Sweena Gulati, Stephanie Demuth, Gunnar Houge

J Neurol Neurosurg Psychiatry· February 2012

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A mutation screen in patients with Kabuki syndrome.
Yun Li, Nina Bögershausen, Yasemin Alanay, Pelin Ozlem Simsek Kiper, Nadine Plume, Stephanie Demuth

Hum Genet· December 2011

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Maternal isodisomy for chromosome 9 causing homozygosity for a novel FOXE1 mutation in syndromic congenital hypothyroidism.
Mireille Castanet, Uma Mallya, Maura Agostini, Erik Schoenmakers, Catherine Mitchell, Stephanie Demuth

J Clin Endocrinol Metab· August 2010

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Blepharophimosis-ptosis-epicanthus inversus syndrome in a girl with chromosome translocation t(2;3)(q33;q23).
Andreas Tzschach, Christina Kelbova, Sabine Weidensee, Hartmut Peters, Hans-Hilger Ropers, Stephanie Demuth

Ophthalmic Genet· March 2008

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Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis.
Peter N Robinson, Luitgard M Neumann, Stephanie Demuth, Herbert Enders, Ursula Jung

Am J Med Genet A· June 2005

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