Publications by authors named "Stephanie Spranger"

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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Stephanie Spranger

Am J Hum Genet· November 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, Stephanie Spranger

Eur J Hum Genet· May 2025

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Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).
Mohammad-Reza Ghasemi, Sahand Tehrani Fateh, Afif Ben-Mahmoud, Vijay Gupta, Lara G Stühn, Stephanie Spranger

Am J Med Genet A· May 2025

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Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.
Rebecca Buchert, Martin D Burkhalter, Chrisovalantou Huridou, Linda Sofan, Timo Roser, Stephanie Spranger

Am J Hum Genet· February 2025

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EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.
Lucia Laugwitz, Rebecca Buchert, Patricio Olguín, Mehrdad A Estiar, Mihaela Atanasova, Stephanie Spranger

Am J Hum Genet· January 2025

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Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Annette Lischka, Katja Eggermann, Christopher J Record, Maike F Dohrn, Petra Laššuthová, Stephanie Spranger

Brain· December 2023

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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Stephanie Spranger

Am J Hum Genet· June 2023

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Novel Variants of in Patients with Intellectual Disability.
Martin Grosse, Alma Kuechler, Tabib Dabir, Stephanie Spranger, Stefanie Beck-Wödl

Int J Mol Sci· February 2023

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Bi-allelic loss-of-function variants in cause severe fetal akinesia with arthrogryposis multiplex.
Ruth J Falb, Amelie J Müller, Wolfram Klein, Mona Grimmel, Ute Grasshoff, Stephanie Spranger

J Med Genet· January 2023

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Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.
Marieke M van der Knoop, Reza Maroofian, Yuko Fukata, Yvette van Ierland, Ehsan G Karimiani, Stephanie Spranger

Brain· July 2022

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Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
Jet van der Spek, Joery den Hoed, Lot Snijders Blok, Alexander J M Dingemans, Dick Schijven, Stephanie Spranger

Genet Med· June 2022

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Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
Margot A Cousin, Emma L Veale, Nikita R Dsouza, Swarnendu Tripathi, Robyn G Holden, Stephanie Spranger

Genome Med· June 2022

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DLG4-related synaptopathy: a new rare brain disorder.
Agustí Rodríguez-Palmero, Melissa Maria Boerrigter, David Gómez-Andrés, Kimberly A Aldinger, Íñigo Marcos-Alcalde, Stephanie Spranger

Genet Med· May 2021

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The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification.
Lena-Luise Becker, Hormos Salimi Dafsari, Jens Schallner, Dalia Abdin, Michael Seifert, Stephanie Spranger

J Hum Genet· November 2020

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Genotype and phenotype spectrum of NRAS germline variants.
Franziska Altmüller, Christina Lissewski, Debora Bertola, Elisabetta Flex, Zornitza Stark, Stephanie Spranger

Eur J Hum Genet· June 2017

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Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype.
Fanny Kortüm, Iris Marquardt, Malik Alawi, Georg Christoph Korenke, Stephanie Spranger

Pediatrics· January 2017

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Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.
Karim Kouz, Christina Lissewski, Stephanie Spranger, Diana Mitter, Angelika Riess

Genet Med· December 2016

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Next-generation sequencing in X-linked intellectual disability.
Andreas Tzschach, Ute Grasshoff, Stefanie Beck-Woedl, Claudia Dufke, Claudia Bauer, Stephanie Spranger

Eur J Hum Genet· November 2015

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47 patients with FLNA associated periventricular nodular heterotopia.
Max Lange, Burkhard Kasper, Axel Bohring, Frank Rutsch, Gerhard Kluger, Stephanie Spranger

Orphanet J Rare Dis· October 2015

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Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.
Uwe Ahting, Johannes A Mayr, Arnaud V Vanlander, Steven A Hardy, Saikat Santra, Stephanie Spranger

Front Genet· April 2015

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Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype.
Melanie Grosch, Barbara Grüner, Stephanie Spranger, Adrian M Stütz, Tobias Rausch

Matrix Biol· July 2014

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A boy with mild mental retardation, mild sensorineural hearing loss and mild facial dysmorphism caused by a 19p13.2 deletion: a case report and review of the literature.
Cornelia Schwemmle, Imma Rost, Stephanie Spranger, Michael Jungheim, Martin Ptok

Int J Pediatr Otorhinolaryngol· July 2014

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Mutations in the human UBR1 gene and the associated phenotypic spectrum.
Maja Sukalo, Ariane Fiedler, Celina Guzmán, Stephanie Spranger, Marie-Claude Addor

Hum Mutat· May 2014

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RAD21 mutations cause a human cohesinopathy.
Matthew A Deardorff, Jonathan J Wilde, Melanie Albrecht, Emma Dickinson, Stephanie Tennstedt, Stephanie Spranger

Am J Hum Genet· June 2012

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Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits.
Denise Horn, Johannes Kapeller, Núria Rivera-Brugués, Ute Moog, Bettina Lorenz-Depiereux, Stephanie Spranger

Hum Mutat· November 2010

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