Christian Schaaf
Ruprecht-Karls-Universität Heidelberg
H-index: 49
Europe-Germany
Top articles of Christian Schaaf
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Unravelling the conundrum of nucleolar NR2F1 localization: A comparative analysis of NR2F1 antibody-based approaches in vitro and in vivo. | bioRxiv | Michele Bertacchi Susanne Theiß Ayat Ahmed Michael Eibl Agnès Loubat | 2024 |
Inhibition of phosphodiesterase 10A by MP-10 rescues behavioral deficits and normalizes microglial morphology and synaptic pruning in a mouse model of FOXP1 syndrome | Henning Froehlich Jing Wang Ferdinand Althammer Tim Schubert Nina Kluck | 2024/3/5 | |
DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7 | Genetics in Medicine | Liselot van der Laan Karim Karimi Kathleen Rooney Peter Lauffer Haley McConkey | 2024/3/1 |
Hao‐Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrum | Clinical Genetics | Moritz Claudius Wimmer Heiko Brennenstuhl Steffen Hirsch Laura Dötsch Samy Unser | 2024/1/14 |
GestaltMatcher Database-A global reference for the facial phenotypic variability of rare human diseases. | Medrxiv: the Preprint Server for Health Sciences | H Lesmann A Hustinx S Moosa E Marchi P Caro | 2024/3/8 |
Magel2 truncation alters select behavioral and physiological outcomes in a rat model of Schaaf-Yang syndrome | Disease Models & Mechanisms | Derek L Reznik Mingxiao V Yang Pedro Albelda de la Haza Antrix Jain Melanie Spanjaard | 2023/2/1 |
GestaltMatcher Database-a FAIR database for medical imaging data of rare disorders | medRxiv | Hellen Lesmann Gholson J Lyon Pilar Caro Ibrahim M Abdelrazek Shahida Moosa | 2023/6/10 |
Position paper on the return of additional genetic findings in minors | Forum Marsilius-Kolleg | Martin Jungkunz Kai Cornelius Christoph Schickhardt Nicola Dikow Eva Winkler | 2023/10/30 |
European Autism GEnomics Registry (EAGER): Protocol for a multicentre cohort study and registry | medRxiv | Madeleine Bloomfield Alexandra Lautarescu Siofra Heraty Sarah Douglas Pierre Violland | 2023 |
Common Neuroimaging Findings in Bosch-Boonstra-Schaaf Optic Atrophy Syndrome | American Journal of Neuroradiology | NK Desai SF Kralik JC Edmond V Shah TAGM Huisman | 2023/2/1 |
Response to Beretich and Beretich | Genetics in Medicine | Jerry Vockley Nicola Brunetti-Pierri Wendy K Chung Angus J Clarke Nina Gold | 2023/10/1 |
The evolving role of medical geneticists in the era of gene therapy: An urgency to prepare | Genetics in Medicine | Jerry Vockley Nicola Brunetti-Pierri Wendy K Chung Angus J Clarke Nina Gold | 2023/4/1 |
Morbidity and mortality in Schaaf-Yang syndrome | Annals of Translational Medicine | Johann Georg Maaß Heiko Brennenstuhl Christian Patrick Schaaf | 2023/12/12 |
The German Network for Personalized Medicine to enhance patient care and translational research | Nature Medicine | Anna L Illert Albrecht Stenzinger Michael Bitzer Peter Horak Verena Ingeborg Gaidzik | 2023/6 |
Accurate tumor purity determination is critical for the analysis of homologous recombination deficiency (HRD) | Translational Oncology | Michael Menzel Volker Endris Constantin Schwab Klaus Kluck Olaf Neumann | 2023/9/1 |
NCT/DKFZ MASTER handbook of interpreting whole-genome, transcriptome, and methylome data for precision oncology | NPJ Precision Oncology | Andreas Mock Maria-Veronica Teleanu Simon Kreutzfeldt Christoph E Heilig Jennifer Hüllein | 2023/10/26 |
Caregiver‐based perception of disease burden in Schaaf‐Yang syndrome | Molecular Genetics & Genomic Medicine | Laura Dötsch Lisa Matesevac Theresa V Strong Christian P Schaaf | 2023/12 |
aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment | Computational and Structural Biotechnology Journal | Julian Schröter Tal Dattner Jennifer Hüllein Alejandra Jayme Vincent Heuveline | 2023/1/1 |
PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals | Frontiers in cell and developmental biology | Antje Kampmeier Elsa Leitão Ilaria Parenti Jasmin Beygo Christel Depienne | 2023/1/16 |
BRCA1/2 potential founder variants in the Jordanian population: an opportunity for a customized screening panel | Olfat Ahmad Christian Sutter Steffen Hirsch Stefan M Pfister Christian P Schaaf | 2023/7/3 |
