Publications by authors named "Sigrid Fuchs"

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Corrigendum to "Generation of a biallelic NRAP-knockout mutant from a human iPSC line". [Stem. Cell Res. 88 (2025) 103829].
Janice Raabe, Vanessa Lewandowski, Sigrid Fuchs, Alexandra Hammerschmidt, Angelika Piasecki

Stem Cell Res· December 2025

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Generation of a NRAP-overexpressing mutant from a human iPSC line.
Janice Raabe, Sigrid Fuchs, Christa Augustin, Alexandra Hammerschmidt, Elisabeth Krämer

Stem Cell Res· December 2025

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Generation of a biallelic NRAP-knockout mutant from a human iPSC line.
Janice Raabe, Vanessa Lewandowski, Sigrid Fuchs, Alexandra Hammerschmidt, Angelika Piasecki

Stem Cell Res· October 2025

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Unanswered questions when human karyotyping shows a supernumerary chromosome.
Thomas Liehr, Sigrid Fuchs

Heredity (Edinb)· September 2025

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Physioxia rewires mitochondrial complex composition to protect stem cell viability.
Janice Raabe, Ilka Wittig, Patrick Laurette, Konstantina Stathopoulou, Theresa Brand, Sigrid Fuchs

Redox Biol· November 2024

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A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements.
Jakob Schuy, Kristine Bilgrav Sæther, Jasmin Lisfeld, Marlene Ek, Christopher M Grochowski, Sigrid Fuchs

Genet Med Open· June 2024

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The acrocentric part of der(Y)t(Y;acro)(q12;p1?2) contains D15Z1 sequences in the majority of cases.
Sigrid Fuchs, Jasmin Lisfeld, Stefanie Kankel, Luisa Person, Thomas Liehr

Hum Genome Var· July 2021

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Cell Banking of hiPSCs: A Practical Guide to Cryopreservation and Quality Control in Basic Research.
Aya Shibamiya, Elisabeth Schulze, Dana Krauß, Christa Augustin, Marina Reinsch, Sigrid Fuchs

Curr Protoc Stem Cell Biol· December 2020

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Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2.
Pauline E Schneeberger, Shalini S Nayak, Sigrid Fuchs, Kerstin Kutsche, Katta M Girisha

Am J Med Genet A· November 2020

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Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with fertility problems in the Southeast European population.
Carolina Sismani, Stamatia-Maria Rapti, Pavlina Iliopoulou, Anastasia Spring, Rozalia Neroutsou, Sigrid Fuchs

J Hum Genet· September 2020

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Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth.
Frederike L Harms, Padmini Parthasarathy, Dennis Zorndt, Malik Alawi, Sigrid Fuchs

Hum Mutat· September 2020

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The H-Y Antigen in Embryonic Stem Cells Causes Rejection in Syngeneic Female Recipients.
Xiaomeng Hu, Simon T Kueppers, Nigel G Kooreman, Alessia Gravina, Dong Wang, Sigrid Fuchs

Stem Cells Dev· September 2020

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Microphthalmia with linear skin defects syndrome associated with hypopigmented mosaic lesions and ptosis: two siblings from Africa.
Antoinette Chateau, Kerstin Kutsche, Sigrid Fuchs, Frederike Harms, Carl-Heinz Kruse

Int J Dermatol· July 2020

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Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies.
Ivana Lessel, Mei-Jan Chen, Sabine Lüttgen, Florian Arndt, Sigrid Fuchs

Hum Genet· April 2020

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Author Correction: Differentiation of cardiomyocytes and generation of human engineered heart tissue.
Kaja Breckwoldt, David Brenière-Letuffe, Ingra Mannhardt, Thomas Schulze, Bärbel Ulmer, Sigrid Fuchs

Nat Protoc· September 2019

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Immortalization of common marmoset monkey fibroblasts by piggyBac transposition of hTERT.
Stoyan Petkov, Tobias Kahland, Orr Shomroni, Thomas Lingner, Gabriela Salinas, Sigrid Fuchs

PLoS One· March 2019

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Differentiation of cardiomyocytes and generation of human engineered heart tissue.
Kaja Breckwoldt, David Letuffe-Brenière, Ingra Mannhardt, Thomas Schulze, Bärbel Ulmer, Sigrid Fuchs

Nat Protoc· June 2017

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Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern.
Anna Podolska, Albrecht Kobelt, Sigrid Fuchs, Karl Hackmann, Andreas Rump

Am J Med Genet A· May 2017

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The transcriptomes of novel marmoset monkey embryonic stem cell lines reflect distinct genomic features.
Katharina Debowski, Charis Drummer, Jana Lentes, Maren Cors, Ralf Dressel, Sigrid Fuchs

Sci Rep· July 2016

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De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.
Maja Hempel, Kirsten Cremer, Charlotte W Ockeloen, Klaske D Lichtenbelt, Johanna C Herkert, Sigrid Fuchs

Am J Hum Genet· September 2015

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Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome.
Vanessa A van Rahden, Isabella Rau, Sigrid Fuchs, Friederike K Kosyna, Hiram Larangeira de Almeida

Orphanet J Rare Dis· April 2014

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Microduplication of 3p26.3 in nonsyndromic intellectual disability indicates an important role of CHL1 for normal cognitive function.
Moneef Shoukier, Sigrid Fuchs, Eva Schwaibold, Michael Lingen, Jutta Gärtner

Neuropediatrics· October 2013

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Parthenogenetic stem cells for tissue-engineered heart repair.
Michael Didié, Peter Christalla, Michael Rubart, Vijayakumar Muppala, Stephan Döker, Sigrid Fuchs

J Clin Invest· March 2013

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Replication study of multiple sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patients.
Mascha C Schmied, Sonja Zehetmayer, Markus Reindl, Rainer Ehling, Barbara Bajer-Kornek, Sigrid Fuchs

Neurogenetics· May 2012

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Absence of oncogenic transformation despite acquisition of cytogenetic aberrations in long-term cultured telomerase-immortalized human fetal hepatocytes.
Björn Haker, Sigrid Fuchs, Judith Dierlamm, Tim H Brümmendorf, Henning Wege

Cancer Lett· October 2007

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