Florian Buerger

发表

Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT.

S. Mane, S. Bauer, V. Tasic, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.

Kristen M. Laricchia, Thomas M. Kitzler, D. MacArthur, 2020, American journal of human genetics.

DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation.

Thomas M. Kitzler, S. Mane, R. Lifton, 2020, American journal of human genetics.

A Case Report: First Long-Term Treatment With Burosumab in a Patient With Cutaneous-Skeletal Hypophosphatemia Syndrome

M. Zenker, K. Dittrich, I. Wieland, 2022, Frontiers in Endocrinology.

Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches

Thomas M. Kitzler, S. Mane, H. Rehm, 2020, Kidney international reports.

Limbal BCAM expression identifies a proliferative progenitor population capable of holoclone formation and corneal differentiation

C. Lian, F. Hildebrandt, B. Ksander, 2022, Cell reports.

ADCK4 deficiency destabilizes the coenzyme Q complex, which is rescued by 2,4-dihydroxybenzoic acid treatment

Min Goo Lee, F. Hildebrandt, J. Ryu, 2019, bioRxiv.

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.

Thomas M. Kitzler, V. Jobanputra, D. Goldstein, 2021, American journal of human genetics.

Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome

Thomas M. Kitzler, S. Mane, R. Lifton, 2020, Kidney international reports.

Depletion of Jmjd1c impairs adipogenesis in murine 3T3-L1 cells.

P. Kovacs, J. Thiery, R. Burkhardt, 2017, Biochimica et biophysica acta. Molecular basis of disease.

Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis.

S. Mane, P. Kane, R. Lifton, 2019, Kidney international.

Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice

S. Mane, S. Howden, R. Lifton, 2021, Science Advances.

Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome.

M. Skalej, S. Mane, R. Lifton, 2021, Journal of the American Society of Nephrology : JASN.

Lipid metabolism: from genetic loci to functional understanding.

R. Burkhardt, Florian Buerger, 2017, Current opinion in lipidology.

Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs

Shrikant Mane, R. Lifton, M. Zegers, 2022, Journal of the American Society of Nephrology : JASN.

ADCK4 Deficiency Destabilizes the Coenzyme Q Complex, Which Is Rescued by 2,4-Dihydroxybenzoic Acid Treatment.

Min Goo Lee, F. Hildebrandt, J. Ryu, 2020, Journal of the American Society of Nephrology : JASN.

Genetic stratification reveals COL4A variants and spontaneous remission in Egyptian children with proteinuria in the first 2 years of life

F. Hildebrandt, Florian Buerger, H. Fathy, 2023, Acta paediatrica.

Normothermic Ex Situ Machine Perfusion of Vascularized Composite Allografts with Oxygen Microcarriers for 12 Hours Using Real-Time Mitochondrial Redox Quantification

B. Polizzotti, V. Haug, Florian Buerger, 2023, Journal of clinical medicine.

Prioritization of Monogenic Congenital Anomalies of the Kidney and Urinary Tract Candidate Genes with Existing Single-Cell Transcriptomics Data of the Human Fetal Kidney

F. Hildebrandt, Steve Seltzsam, Chunyan Wang, 2023, Nephron.