Publications by authors named "Sarah Schuhmann"

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Heterozygous alterations of at the Williams-Beuren syndrome's locus cause a neurodevelopmental disorder.
Jeanne Jury, Thomas Besnard, Wallid Deb, Annick Toutain, Paul Gueguen, Sarah Schuhmann

J Med Genet· October 2025

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Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Caroline Nava, Benjamin Cogne, Amandine Santini, Elsa Leitão, François Lecoquierre, Sarah Schuhmann

Nat Genet· June 2025

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Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizures.
Michelle Hua, Mohamad-Reza Aghanoori, Melissa MacPherson, Yi Ren, Yifan Yang, Sarah Schuhmann

medRxiv· June 2025

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Further delineation of the SCAF4-associated neurodevelopmental disorder.
Cosima M Schmid, Anne Gregor, Anna Ruiz, Carmen Manso Bazús, Isabella Herman, Sarah Schuhmann

Eur J Hum Genet· May 2025

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The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants.
Francesca Furia, Amanda M Levy, Miel Theunis, Michael J Bamshad, Meghan N Bartos, Sarah Schuhmann

Clin Genet· November 2024

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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Maimuna S Paul, Sydney L Michener, Hongling Pan, Hiuling Chan, Jessica M Pfliger, Sarah Schuhmann

Am J Hum Genet· June 2024

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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Maimuna S Paul, Sydney L Michener, Hongling Pan, Hiuling Chan, Jessica M Pfliger, Sarah Schuhmann

Am J Hum Genet· April 2024

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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Maimuna S Paul, Sydney L Michener, Hongling Pan, Hiuling Chan, Jessica M Pfliger, Sarah Schuhmann

Am J Hum Genet· January 2024

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Rare variants in cause delayed development, intellectual disability, autism, and epilepsy.
Maimuna S Paul, Sydney L Michener, Hongling Pan, Jessica M Pfliger, Jill A Rosenfeld, Sarah Schuhmann

medRxiv· March 2023

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Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.
Silvestre Cuinat, Mathilde Nizon, Bertrand Isidor, Alexander Stegmann, Richard H van Jaarsveld, Sarah Schuhmann

Genet Med· August 2022

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De novo missense variants in FBXO11 alter its protein expression and subcellular localization.
Anne Gregor, Tanja Meerbrei, Thorsten Gerstner, Annick Toutain, Sally Ann Lynch, Sarah Schuhmann

Hum Mol Genet· February 2022

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Genetic Analysis of MPO Variants in Four Psoriasis Subtypes in Patients from Germany.
Stefan Haskamp, Joseph Simon Horowitz, Vinzenz Oji, Sandra Philipp, Michael Sticherling, Sarah Schuhmann

J Invest Dermatol· August 2021

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Clinical and molecular delineation of spondylocostal dysostosis type 3.
Sarah Schuhmann, Heiko Koller, Heinrich Sticht, Cornelia Kraus, Mandy Krumbiegel

Clin Genet· June 2021

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Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Madelyn A Gillentine, Tianyun Wang, Kendra Hoekzema, Jill Rosenfeld, Pengfei Liu, Sarah Schuhmann

Genome Med· April 2021

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EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.
Ulrike Hüffmeier, Cornelia Kraus, Miriam S Reuter, Steffen Uebe, Mary-Alice Abbott, Sarah Schuhmann

Orphanet J Rare Dis· March 2021

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Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.
Nadine N Hauer, Bernt Popp, Eva Schoeller, Sarah Schuhmann, Karen E Heath

Genet Med· June 2018

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