Felix Boschann
Berlin, BE, Germany
Last Updated: 09/26/2026
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Found 46 publications
Identification of biallelic loss-of-function PREP variants in three individuals with syndromic intellectual disability.
Journal: Journal of medical genetics
Published: January 14, 2026
Delayed diagnosis of mucopolysaccharidosis type I in a patient with spinopelvic instability, short stature, and skeletal dysplasia.
Journal: JBMR plus
Published: December 15, 2025
Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder.
Journal: European journal of human genetics : EJHG
Published: August 04, 2025
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Journal: Nature genetics
Published: June 24, 2025
Novel Biallelic SQSTM1 Mutation Causing a Subacute-Onset Complex Movement Disorder with Oculomotor Abnormalities.
Journal: Movement disorders clinical practice
Published: May 03, 2025
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.
Journal: Nature communications
Published: March 31, 2025
A clinical and genotype-phenotype analysis of MACF1 variants.
Journal: American journal of human genetics
Published: January 10, 2025
Cyclical Vomiting Syndrome in Individuals With BPTF Haploinsufficiency.
Journal: Pediatric neurology
Published: December 08, 2024
Medulloblastoma in children with Fanconi anemia: Association with FA-D1/FA-N, SHH type and poor survival independent of treatment strategies.
Journal: Neuro-oncology
Published: June 26, 2024
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.
Journal: Nature genetics
Published: June 16, 2024
Last Updated: 09/26/2026