Lilian T. Kaufmann
Heidelberg, BW, Germany
Last Updated: 09/26/2026
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Found 19 publications
Clustered monoallelic mosaicism in twins suggests previously unrecognized path of mutagenesis.
Journal: HGG advances
Published: June 03, 2026
Interdisciplinary vascular genetics evaluations in routine clinical care: insights from a five-year single-center experience.
Journal: Langenbeck's archives of surgery
Published: April 21, 2026
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Journal: Nature genetics
Published: June 24, 2025
Phenotypical and Genotypical Expansion of Autosomal-Dominant KDM1A -Related Neurodevelopmental Disorder Spectrum: A Case Report.
Journal: American journal of medical genetics. Part A
Published: March 27, 2025
Rising challenges in dermatosurgery: Cutler-Beard flap for total upper eyelid defect after squamous cell carcinoma.
Journal: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
Published: October 14, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Journal: Nature genetics
Published: July 19, 2023
Germ cell mosaicism for AUTS2 exon 6 deletion.
Journal: American journal of medical genetics. Part A
Published: September 28, 2020
BMPR2 Promoter Variants Effect Gene Expression in Pulmonary Arterial Hypertension Patients.
Journal: Genes
Published: September 04, 2020
The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1.
Journal: Frontiers in physiology
Published: September 14, 2018
Wnt/PCP controls spreading of Wnt/β-catenin signals by cytonemes in vertebrates.
Journal: eLife
Published: March 24, 2018
Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.
Journal: Molecular genetics and metabolism
Published: April 04, 2017
Nemo-like kinase 1 (Nlk1) and paraxial protocadherin (PAPC) cooperatively control Xenopus gastrulation through regulation of Wnt/planar cell polarity (PCP) signaling.
Journal: Differentiation; research in biological diversity
Published: July 13, 2016
Last Updated: 09/26/2026