Esther Milz

No association of the variant rs11887120 in DNMT3A with cognitive decline in individuals with mild cognitive impairment.

F. Jessen, W. Maier, E. Rüther, 2016, Epigenomics.

The BDNFVal66Met SNP modulates the association between beta-amyloid and hippocampal disconnection in Alzheimer’s disease

Nick C Fox, A. Fagan, J. Morris, 2019, Molecular Psychiatry.

Herpes simplex virus alters Alzheimer's disease biomarkers ‐ A hypothesis paper

J. Diehl-Schmid, A. Ramírez, V. Magdolen, 2022, Alzheimer's & dementia : the journal of the Alzheimer's Association.

The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation

G. Nürnberg, P. Nürnberg, Filippo Beleggia, 2013, Human Genetics.

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

K. Devriendt, J. Vermeesch, B. Gener, 2013, Human molecular genetics.

A large duplication involving the IHH locus mimics acrocallosal syndrome

K. Grzeschik, H. Kayserili, G. Nürnberg, 2012, European Journal of Human Genetics.

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.

T. Meitinger, T. Strom, A. F. Stewart, 2015, The Journal of clinical investigation.

Clinical findings in patients with RAP 1 A / RAP 1 B mutations Symptom Frequency in KSA RAP 1 A patient RAP 1

T. Meitinger, T. Strom, A. F. Stewart, 2015 .

A mutation screen in patients with Kabuki syndrome

D. Wieczorek, Yun Li, G. Yigit, 2011, Human Genetics.

Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer’s disease

P. Bosco, S. Kochen, F. Jessen, 2019, Translational Psychiatry.