Stephanie Spranger

Bremen, HB, Germany

Last Updated: 09/26/2026

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Found 26 publications

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Journal: American journal of human genetics

Published: October 19, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: Nature genetics

Published: September 02, 2025

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

Journal: Nature communications

Published: March 31, 2025

Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.

Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.

Journal: American journal of human genetics

Published: June 18, 2024

EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.

EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.

Journal: American journal of human genetics

Published: June 07, 2024

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).

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).

Journal: American journal of medical genetics. Part A

Published: June 02, 2024

Further delineation of the SCAF4-associated neurodevelopmental disorder.

Further delineation of the SCAF4-associated neurodevelopmental disorder.

Journal: European journal of human genetics : EJHG

Published: April 23, 2024

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.

Journal: Brain : a journal of neurology

Published: April 26, 2023

Novel Variants of SOX4 in Patients with Intellectual Disability.

Novel Variants of SOX4 in Patients with Intellectual Disability.

Journal: International journal of molecular sciences

Published: January 17, 2023

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Journal: American journal of human genetics

Published: November 23, 2022

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.

Journal: Genome medicine

Published: November 23, 2021

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 18, 2021

Showing 1-12 of 26

Last Updated: 09/26/2026