Dennis Witt

发表

A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability

K. Stingl, T. Haack, N. Weisschuh, 2022, International journal of molecular sciences.

Genome sequencing identifies complex structural MLH1 variant in unsolved Lynch syndrome

C. Schroeder, M. Sturm, S. Ossowski, 2023, Molecular genetics & genomic medicine.

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases

K. Stingl, M. Sturm, S. Ossowski, 2023, Journal of Medical Genetics.