Publications by authors named "Susann Diegmann"

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Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.
Laura Planas-Serra, Mar Rodríguez-Ruiz, Eric Nathaniel Anderson, Agustí Rodríguez-Palmero, Valentina Vélez-Santamaria, Susann Diegmann

Am J Hum Genet· November 2025

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Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and Ichthyosis.
Keit Men Wong, Reza Maroofian, Kolja Meier, Susann Diegmann, Tinatin Tkemaladze

Mov Disord· September 2025

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Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests.
Elise A Ferreira, Annemarijne R J Veenvliet, Udo F H Engelke, Leo A J Kluijtmans, Marleen C D G Huigen, Susann Diegmann

Genet Med· January 2023

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TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.
Luciana Musante, Flavio Faletra, Kolja Meier, Hoda Tomoum, Paria Najarzadeh Torbati, Susann Diegmann

Am J Med Genet A· September 2022

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Mutations in TAF8 cause a neurodegenerative disorder.
Keit Men Wong, Wayne M Jepsen, Stephanie Efthymiou, Vincenzo Salpietro, Meredith Sanchez-Castillo, Susann Diegmann

Brain· September 2022

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A novel remitting leukodystrophy associated with a variant in .
Agnieszka Gizak, Susann Diegmann, Steffi Dreha-Kulaczewski, Janusz Wiśniewski, Przemysław Duda

Brain Commun· March 2021

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