Research ExplorerResearch UnitsInstitute of Human Genetics

Institute of Human Genetics

Publications

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

PSA-density, DRE, and PI-RADS 5: potential surrogates for omitting biopsy?

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Multimodal characterization of dilated cardiomyopathy: Geno- And Phenotyping of PrImary Cardiomyopathy (GrAPHIC)

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

The Shank/ProSAP N-Terminal (SPN) Domain of Shank3 Regulates Targeting to Postsynaptic Sites and Postsynaptic Signaling

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Size of lymph-node metastases in prostate cancer patients undergoing radical prostatectomy: implication for imaging and oncologic follow-up of 2705 lymph-node positive patients

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Fatty acid synthesis suppresses dietary polyunsaturated fatty acid use

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Case Report of a DDX41 Germline Mutation in a Family with Multiple Relatives Suffering from Leukemia

Research output: SCORING: Contribution to journal › Case report › Research › peer-review

Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Further Association of Germline CHEK2 Loss-of-Function Variants with Testicular Germ Cell Tumors

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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projects

KR 1321/11-1" Die DNA-Helicase DHX30: Ph

Project: Research

SCHL 2276/2-1 " Pathomechanismen und The

Project: Research

SCHO 1921/2-1 Gehirnareal -, zelltyp- un

Project: Research

KU 1240/13-1 " Genom- und RNA-Sequenzier

Project: Research

GZ: LE 4223/1-1 AOBJ: 650723

Project: Research

Improving the clinical care of children and young adults with Marfan syndrome and related disorders by molecular genetic testing through next-generation sequencing

Project: Research

Genetic and functional studies of the microphthalmia with linear skin defects (MLS) syndrome

Project: Research

KO 4576/1-2 AOBJ: 629697

Project: Research

DFG - GZ: KI 488/7-1 AOBJ: 629331 Functional analysis of kinesin-associated RNA transport granules in neurons

Project: Research

Analysis of the pathophysiologic link between constitutional RAS pathway activation and epidermal findings in Costello syndrome

Project: Research

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