H. L. Sczakiel

Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome)

S. Mundlos, M. Holtgrewe, Björn Fischer-Zirnsak, 2022, Journal of Human Genetics.

The AP-1-BATF and -BATF3 module is essential for growth, survival and TH17/ILC3 skewing of anaplastic large cell lymphoma

G. Lenz, B. Dörken, P. Griffin, 2018, Leukemia.

GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C‐terminal third

D. Horn, S. Mundlos, M. Spielmann, 2021, Clinical Genetics.

Histone methylation-modifiers, such as EZH2 and KMT2D, are recurrently altered in B-cell lymphomas. To comprehensively describe the landscape of alterations affecting genes encoding histone methylation-modifiers in lymphomagenesis

S. Bens, W. Klapper, A. Mottok, 2023 .

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases

A. Hoischen, Martin Kircher, D. Horn, 2023, Nature.

Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals

J. Lupski, D. Seelow, D. Horn, 2023, European Journal of Human Genetics.

A Novel Autosomal Dominant Childhood-Onset Disorder Associated with Pathogenic Variants in VCP

V. Narayanan, A. Afenjar, S. Skinner, 2023, medRxiv.

Biallelic known and novel DCDC2 variants in cholestatic liver disease: Phenotype–genotype observations in four children

C. Mache, P. Bufler, Magdalena Danyel, 2023, Liver international : official journal of the International Association for the Study of the Liver.

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.

V. Narayanan, A. Afenjar, T. Chou, 2023, American journal of human genetics.

Whole genome sequencing in families with oligodontia.

T. Bartzela, H. L. Sczakiel, Stefan Mundlos, 2023, Oral diseases.