B. Löscher

发表

Adult sucrase-isomaltase deficiency masquerading as IBS

A. Franke, M. D’Amato, H. Naim, 2021, Gut.

SETDB1 is required for intestinal epithelial differentiation and the prevention of intestinal inflammation

J. Hampe, P. Rosenstiel, G. Schotta, 2020, Gut.

Exome Sequencing of 5 Families with Severe Early-Onset Periodontitis

M. Holtgrewe, H. Dommisch, A. Schaefer, 2021, Journal of dental research.

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases

Francisco M. De La Vega, Kiely N. James, S. Kingsmore, 2021, Genome Medicine.

Current Developments of Clinical Sequencing and the Clinical Utility of Polygenic Risk Scores in Inflammatory Diseases

I. König, J. Erdmann, A. Franke, 2021, Frontiers in Immunology.

Sucrase-isomaltase genotype and response to a starch-reduced and sucrose-reduced diet in IBS-D patients

G. Mayr, H. Naim, K. Garcia-Etxebarria, 2023, Gut.

A heterozygous germline CD100 mutation in a family with primary sclerosing cholangitis

Jeff E. Mold, T. Karlsen, A. Bergquist, 2021, Science Translational Medicine.

Leptin induces TNFα-dependent inflammation in acquired generalized lipodystrophy and combined Crohn’s disease

M. Stumvoll, P. Asbach, A. Franke, 2019, Nature Communications.

Genetic Variation in ABCC4 and CFTR and Acute Pancreatitis during Treatment of Pediatric Acute Lymphoblastic Leukemia

R. Houlston, A. Franke, M. Schrappe, 2021, Journal of clinical medicine.

Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage

W. Lieb, A. Franke, M. Westphal, 2020, Journal of Neurology.

CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

Silvio C. E. Tosatto, Julius O. B. Jacobsen, Nicholas A. Sinnott-Armstrong, 2024, Genome biology.

CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

Nicholas A. Sinnott-Armstrong, Jonathan M. Mudge, Hui Ting Grace Yeo, 2022, Genome biology.

Stratified analyses refine association between TLR7 rare variants and severe COVID-19

K. Rawlik, N. Sacchi, N. Love, 2024, HGG advances.

Genome interpretation in a federated learning context allows the multi-center exome-based risk prediction of Crohn’s disease patients

D. Raimondi, Haleh Chizari, B. Löscher, 2023, Scientific reports.