Felix Boschann

16PUBLICATIONS
78CO-AUTHORS
NeurogeneticsImmunogenetics (incl. genetic immunology)Developmental genetics (incl. sex determination)Epigenetics (incl. genome methylation and epigenomics)Litigation, adjudication and dispute resolution
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (16)

|Jun 26, 2026
Identification of biallelic loss-of-function PREP variants in three individuals with syndromic intellectual disability.

|Jun 23, 2026
Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder.

|May 11, 2026
Delayed diagnosis of mucopolysaccharidosis type I in a patient with spinopelvic instability, short stature, and skeletal dysplasia.

|Mar 22, 2024
RNA analysis and computer-aided facial phenotyping help to classify a novel TRIO splice site variant.

Sarina Schwartzmann, Max Zhao, Henrike Lisa Sczakiel

|Mar 06, 2024
Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome.

Asuman Koparir, Caroline Lekszas, Kemal Keseroglu

|May 15, 2023
Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals.

Henrike L Sczakiel, Max Zhao, Brigitte Wollert-Wulf

Pageof 3

Frequent Collaborators

4 joint publications

Björn Fischer-Zirnsak

3 joint publications

Nadja Ehmke

3 joint publications

Denise Horn

3 joint publications

Dominik Seelow