Publications by authors named "Susan Marschall"

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A quality framework for cryopreserved rodent disease models: INFRAFRONTIER quality principles in EMMA archiving and distribution.
Hilke Ehlich, Andrew Blease, Reva Biju, Montse Gustems, Fei Song, Susan Marschall

Mamm Genome· December 2025

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New treatment for pyridoxine-dependent epilepsy due to ALDH7A1 deficiency: first proof-of-principle of upstream enzyme inhibition in the mouse.
Clara D M van Karnebeek, Valérie Gailus-Durner, Udo F Engelke, Claudia Seisenberger, Susan Marschall

Brain Commun· November 2025

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Loss of histone macroH2A1.1 causes kidney abnormalities secondary to a change in nutrient metabolization.
René Winkler, Gemma Comas-Armangué, David Corujo, Adrián Sanz-Moreno, Julia Calzada-Wack, Susan Marschall

Sci Adv· October 2025

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Towards a kingdom of reproductive life - the core sperm proteome.
Taylor Pini, Brett Nixon, Timothy L Karr, Raffaele Teperino, Adrián Sanz-Moreno, Susan Marschall

Reproduction· June 2025

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Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita.
Adrián Sanz-Moreno, Lore Becker, Kan Xie, Patricia da Silva-Buttkus, Nathalia R V Dragano, Susan Marschall

Sci Adv· April 2025

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Examining the liver-pancreas crosstalk reveals a role for the molybdenum cofactor in β-cell regeneration.
Christos Karampelias, Bianca Băloiu, Birgit Rathkolb, Patricia da Silva-Buttkus, Etty Bachar-Wikström, Susan Marschall

Life Sci Alliance· November 2024

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Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
Korbinian M Riedhammer, Thanh-Minh T Nguyen, Can Koşukcu, Julia Calzada-Wack, Yong Li, Susan Marschall

Kidney Int· April 2024

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AOX delays the onset of the lethal phenotype in a mouse model of Uqcrh (complex III) disease.
Howard T Jacobs, Marten Szibor, Birgit Rathkolb, Patricia da Silva-Buttkus, Juan Antonio Aguilar-Pimentel, Susan Marschall

Biochim Biophys Acta Mol Basis Dis· October 2023

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Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Daniel G Calame, Tianyu Guo, Chen Wang, Lillian Garrett, Angad Jolly, Susan Marschall

Am J Hum Genet· August 2023

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Deletion of SERF2 in mice delays embryonic development and alters amyloid deposit structure in the brain.
Esther Stroo, Leen Janssen, Olga Sin, Wytse Hogewerf, Mirjam Koster, Susan Marschall

Life Sci Alliance· July 2023

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Knockout mouse models as a resource for the study of rare diseases.
Patricia da Silva-Buttkus, Nadine Spielmann, Tanja Klein-Rodewald, Christine Schütt, Antonio Aguilar-Pimentel, Susan Marschall

Mamm Genome· June 2023

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Comprehensive ECG reference intervals in C57BL/6N substrains provide a generalizable guide for cardiac electrophysiology studies in mice.
Manuela A Oestereicher, Janine M Wotton, Shinya Ayabe, Ghina Bou About, Tsz Kwan Cheng, Susan Marschall

Mamm Genome· June 2023

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A review of standardized high-throughput cardiovascular phenotyping with a link to metabolism in mice.
Jiri Lindovsky, Zuzana Nichtova, Nathalia R V Dragano, David Pajuelo Reguera, Jan Prochazka, Susan Marschall

Mamm Genome· June 2023

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Implication of dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
Korbinian M Riedhammer, Thanh-Minh T Nguyen, Can Koşukcu, Julia Calzada-Wack, Yong Li, Susan Marschall

medRxiv· March 2023

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Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome.
Rachel Youjin Oh, Ashish R Deshwar, Ashish Marwaha, Nesrin Sabha, Michael Tropak, Susan Marschall

Genet Med· November 2022

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Publisher Correction: Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy.
Nadine Spielmann, Gregor Miller, Tudor I Oprea, Chih-Wei Hsu, Gisela Fobo, Susan Marschall

Nat Cardiovasc Res· May 2022

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Post-synaptic scaffold protein TANC2 in psychiatric and somatic disease risk.
Lillian Garrett, Patricia Da Silva-Buttkus, Birgit Rathkolb, Raffaele Gerlini, Lore Becker, Susan Marschall

Dis Model Mech· March 2022

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Susceptibility to diet-induced obesity at thermoneutral conditions is independent of UCP1.
Sebastian Dieckmann, Akim Strohmeyer, Monja Willershäuser, Stefanie F Maurer, Wolfgang Wurst, Susan Marschall

Am J Physiol Endocrinol Metab· February 2022

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Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy.
Nadine Spielmann, Gregor Miller, Tudor I Oprea, Chih-Wei Hsu, Gisela Fobo, Susan Marschall

Nat Cardiovasc Res· February 2022

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Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes.
Silvia Vidali, Raffaele Gerlini, Kyle Thompson, Jill E Urquhart, Jana Meisterknecht, Susan Marschall

EMBO Mol Med· December 2021

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Disruption of paternal circadian rhythm affects metabolic health in male offspring via nongerm cell factors.
Maximilian Lassi, Archana Tomar, Gemma Comas-Armangué, Rebekka Vogtmann, Dorieke J Dijkstra, Susan Marschall

Sci Adv· May 2021

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METTL6 is a tRNA mC methyltransferase that regulates pluripotency and tumor cell growth.
Valentina V Ignatova, Steffen Kaiser, Jessica Sook Yuin Ho, Xinyang Bing, Paul Stolz, Susan Marschall

Sci Adv· August 2020

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The rRNA mA methyltransferase METTL5 is involved in pluripotency and developmental programs.
Valentina V Ignatova, Paul Stolz, Steffen Kaiser, Tobias H Gustafsson, Palma Rico Lastres, Susan Marschall

Genes Dev· May 2020

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Roquin Suppresses the PI3K-mTOR Signaling Pathway to Inhibit T Helper Cell Differentiation and Conversion of Treg to Tfr Cells.
Katharina Essig, Desheng Hu, Joao C Guimaraes, Dominik Alterauge, Stephanie Edelmann, Susan Marschall

Immunity· December 2017

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Corrigendum: High-throughput discovery of novel developmental phenotypes.
Mary E Dickinson, Ann M Flenniken, Xiao Ji, Lydia Teboul, Michael D Wong, Susan Marschall

Nature· November 2017

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