Julia Hoefele

Klinikum rechts der Isar — Germany

Biochemistry, Genetics and Molecular Biology · Life Sciences

31h-index4.6kcitations134works4.02yr avg
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Research Topics

Renal and related cancers(48), Renal Diseases and Glomerulopathies(35), Genetic and Kidney Cyst Diseases(27), Genomics and Rare Diseases(21), Cell Adhesion Molecules Research(20)

Publications130 total

Präventive Magenchirurgie bei hereditärem Magenkarzinom und genetischer Prädisposition
Zentralblatt für Chirurgie - Zeitschrift für Allgemeine Viszeral- Thorax- und Gefäßchirurgie·2025· 1 cited
The genotypic and phenotypic landscape of <i>PDHA1</i> -related pyruvate dehydrogenase complex deficiency
Brain·2025Open Access
#713 Extrarenal manifestations-clinical marker for early onset of renal replacement therapy in COL4 nephropathy
Nephrology Dialysis Transplantation·2025
Genotype–phenotype correlations and clinical outcomes of genetic <i>TRPC6</i> podocytopathies
Nephrology Dialysis Transplantation·2025· 1 citedOpen Access
Estimating Lifetime Risk of Autosomal Recessive Kidney Diseases Using Population-Based Genotypic Data
Kidney International Reports·2025· 1 citedOpen Access
COL4A5-p.Gly624Asp is the Predominant Variant in Europe Associated With a Mild Alport Syndrome Phenotype
Kidney International Reports·2025· 2 citedOpen Access
Erweiterung des Neugeborenenscreenings durch kommerzielle Anbieter
Zeitschrift für Allgemeinmedizin·2025
Erweiterung des Neugeborenenscreenings durch kommerzielle Anbieter
Die Gynäkologie·2025
Further delineation of the SCAF4-associated neurodevelopmental disorder
European Journal of Human Genetics·2024· 4 citedOpen Access
Trio Exome Sequencing in VACTERL Association
Kidney International Reports·2024· 3 citedOpen Access
Diagnosis, management and treatment of the Alport syndrome – 2024 guideline on behalf of ERKNet, ERA and ESPN
Nephrology Dialysis Transplantation·2024· 26 citedOpen Access
Variants that get straight to your heart – Cardiogenetic secondary findings in exome sequencing
Gene·2024· 1 citedOpen Access
Erweiterung des Neugeborenenscreenings durch kommerzielle Anbieter
Monatsschrift Kinderheilkunde·2024Open Access
Extrarenal manifestations in inherited kidney diseases
Nephrology Dialysis Transplantation·2024· 1 citedOpen Access
Genome Sequencing for Cases Unsolved by Exome Sequencing: Identifying a Single-Exon Deletion in TBCK in a Case from 30 Years Ago
Neuropediatrics·2024· 1 cited
Is there a dominant‐negative effect in individuals with heterozygous disease‐causing variants in <i>COL4A3/COL4A4</i>?
Clinical Genetics·2024· 4 citedOpen Access
Table_Nephropathies_Lifetime risk_Raw data excluded variants.xlsx
Figshare·2024Open Access
Table_Nephropathies_Lifetime risk_Raw data included variants.xlsx
Figshare·2024Open Access
Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)
Kidney International·2023· 8 citedOpen Access
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses
Journal of Neurology·2023· 12 citedOpen Access
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Frequent Co-authors

Friedhelm Hildebrandt(13), Korbinian M. Riedhammer(13), Matias Wagner(13), Edgar A. Otto(12), Lutz T. Weber(8), Beata S. Lipska‐Ziętkiewicz(8), Corinne Antignac(6), Marcus R. Benz(6), Oliver Groß(6), Judy Savige(6), Hanns‐Georg Klein(6), Carsten Bergmann(5), Daniel P. Gale(5), Constantinos Deltas(5), Stefanie Weber(5), Thomas Meitinger(5), Velibor Tasić(5), Francesco Emma(5), Elisa Benetti(5), Matthias T. F. Wolf(4)