Julia Hoefele

4.6k citations

65 papers · 1.5k indexed · h-index 18

Impact in

Nephrology top 2%
- Renal Diseases and Glomerulopathies
Genetics top 2%
- Genetic and Kidney Cyst Diseases
- Genetic Syndromes and Imprinting

Papers in

Nephrology 20
- Renal Diseases and Glomerulopathies 20
Immunology and Allergy 12
- Cell Adhesion Molecules Research 12

Co-authors: Edgar A. Otto Friedhelm Hildebrandt Matthias T. F. Wolf Ralf Sudbrak Corinne Antignac Lutz T. Weber Hanns‐Georg Klein Carsten Bergmann
Journals: Pediatric Nephrology (9 papers)Gene (7 papers)Nephrology Dialysis Transplantation (6 papers)European Journal of Human Genetics (4 papers)Frontiers in Pediatrics (4 papers)
Partner nations: Germany United States France

In The Last Decade

Julia Hoefele

58 papers receiving 1.5k citations

Peers

Countries citing papers authored by Julia Hoefele

Since Specialization

Citations

This map shows the geographic impact of Julia Hoefele's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Julia Hoefele with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Julia Hoefele more than expected).

Fields of papers citing papers by Julia Hoefele

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Julia Hoefele. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Julia Hoefele. The network helps show where Julia Hoefele may publish in the future.

Co-authorship network

The 25 scholars most cited alongside Julia Hoefele, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Julia Hoefele Line = papers co-authored together Julia Hoefele links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Estimating Lifetime Risk of Autosomal Recessive Kidney Diseases Using Population-Based Genotypic Data Kidney International Reports ·Matthias C. Braunisch, Sae-In Samantha Kay, М.А. Пирадов, John Buchan Brodie, Riccardo Berutti, Kento Adachi, Roman Günthner, Lutz Renders, Christoph Schmaderer, Uwe Heemann, Korbinian M. Riedhammer, Matias Wagner, Julia Hoefele	2025	0
2	Präventive Magenchirurgie bei hereditärem Magenkarzinom und genetischer Prädisposition Zentralblatt für Chirurgie - Zeitschrift für Allgemeine Viszeral- Thorax- und Gefäßchirurgie ·Hyuk‐Joon Lee, H. J. Stein, Владислав Вадимович Паляниця, 望月知史, Julia Hoefele, Mirosław Bik-Multanowski, Jens Werner, 周婷玉	2025	0
3	Extrarenal manifestations in inherited kidney diseases Nephrology Dialysis Transplantation ·Julia Hoefele, 栄治高岡, Tobias Hermle, Matthias Wuttke, Ulla T. Schultheiß	2024	1
4	Genome Sequencing for Cases Unsolved by Exome Sequencing: Identifying a Single-Exon Deletion in TBCK in a Case from 30 Years Ago Neuropediatrics ·Yuho Shimizu, Melanie Brügger, 幸治竹田, Matias Wagner, Elisabeth Graf, Riccardo Berutti, Erik Tilch, Nina Hällgren, Felipe Blanco Grégio, Julia Hoefele, Thomas Meitinger, Juliane Winkelmann, Theresa Brunet	2024	1
5	Is there a dominant‐negative effect in individuals with heterozygous disease‐causing variants in COL4A3/COL4A4? Clinical Genetics ·Korbinian M. Riedhammer, Ларионов Владимир Анатольевич, Velibor Tasić, Yadira Milagritos Tello Luquillas, J. K. COOKE, Nataša Stajić, Riccardo Berutti, Marc Weidenbusch, Ludwig Patzer, Adrian Lungu, Gordana Miloševski‐Lomić, Roman Günthner, Matthias C. Braunisch, Kento Adachi, Julia Hoefele	2024	3
6	Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice Genes ·Constantinos Deltas, Gregory Papagregoriou, Stavroula F. Louka, Apostolos Malatras, Frances Flinter, Daniel P. Gale, Susie Gear, Oliver Groß, Julia Hoefele, Rachel Lennon, Jeffrey H. Miner, Alessandra Renieri, Judy Savige, Neil Turner	2023	8
7	Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience European Journal of Human Genetics ·Korbinian M. Riedhammer, Kento Adachi, Velibor Tasić, Yadira Milagritos Tello Luquillas, J. K. COOKE, Aleksandra Paripović, Nataša Stajić, Thomas Meitinger, Daniel Martínez Chaves, Riccardo Berutti, Matthias C. Braunisch, Julia Hoefele	2023	9
8	Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders Human Molecular Genetics ·Theresa Brunet, Riccardo Berutti, Veronika Dill, Judith S. Hecker, Daniela Choukair, 幸治竹田, Marcus Deschauer, Janine Diehl‐Schmid, Martin Krenn, Gertrud Eckstein, Elisabeth Graf, Thomas Gasser, Tim M. Strom, Julia Hoefele, Katharina S. Götze, Thomas Meitinger, Matias Wagner	2022	4
9	High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases Frontiers in Pediatrics ·Maryam Najafi, Korbinian M. Riedhammer, Abolfazl Rad, Yun Li, Riccardo Berutti, A. Stephens Dyer, Akeem J. Wells, Thomas Meitinger, Kento Adachi, Simin Sadeghi‐Bojd, Jürgen Wasem, Anita Asamoah, Ariya Maulana Nasution, 多門佐伯, Anna Köttgen, Rolf Backofen, Ehsan Ghayoor Karimiani, Julia Hoefele, Miriam Schmidts	2022	8
10	Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1 European Journal of Human Genetics ·K. K. Athow, Matias Wagner, Julia Hoefele, Anja Heinze, Timo Roser, Margarete Koch‐Hogrebe, Stefan D. Roosendaal, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, Erin Torti, Henry Houlden, Reza Maroofian, Timm Bostelmann, Heinrich Sticht, Frank Baas, Dagmar Wieczorek, Rami Abou Jamra	2020	17
11	Heterozygous COL4A3 Variants in Histologically Diagnosed Focal Segmental Glomerulosclerosis Frontiers in Pediatrics ·Matthias C. Braunisch, Maike Büttner‐Herold, Roman Günthner, Robin Satanovskij, Korbinian M. Riedhammer, van Proosdij C, Hanns‐Georg Klein, Dagmar Wahl, Claudius Küchle, Lutz Renders, Uwe Heemann, Christoph Schmaderer, Julia Hoefele	2018	13
12	Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic Clavicles Frontiers in Pediatrics ·Korbinian M. Riedhammer, Corinna Siegel, Bader Alhaddad, Carmen Montoya, Réka Kovács-Nagy, Matias Wagner, Thomas Meitinger, Julia Hoefele	2017	15
13	Rare co-occurrence of osteogenesis imperfecta type I and autosomal dominant polycystic kidney disease World Journal of Pediatrics ·Julia Hoefele, Karin Mayer, R. Meza-Romero, Martin Alberer, Hanns‐Georg Klein, Martin Kirschstein	2016	2
14	Truncating <b><i>Wilms Tumor Suppressor Gene 1</i></b> Mutation in an XX Female with Adult-Onset Focal Segmental Glomerulosclerosis and Streak Ovaries: A Case Report The Nephron journals/Nephron journals ·Julia Hoefele, Markus J. Kemper, C K Im, Susanna Mueller, Hanns‐Georg Klein, S. Abdel Moneim	2016	11
15	Next generation sequencing as a useful tool in the diagnostics of mosaicism in Alport syndrome Gene ·Т.Т. Абдукадырова, Gertrud Strobl‐Wildemann, Ali Berkol, Rhee Eun-Mee, Martin Alberer, Julio Valle-Castillo, Lutz T. Weber, Tanja Hinrichsen, Hanns‐Georg Klein, Julia Hoefele	2013	27
16	A novel interstitial deletion of 10q24.2q24.32 in a patient with renal coloboma syndrome European Journal of Medical Genetics ·Julia Hoefele, Seyyed Abass Tabatabaie, Uwe Heinrich, Kerstin Benz, Oliver Rompel, Imma Rost, Hanns‐Georg Klein, Erdmute Kunstmann	2012	6
17	Genotype–phenotype correlation in 440 patients with NPHP-related ciliopathies Kidney International ·Moumita Chaki, Julia Hoefele, Susan J. Allen, Gokul Ramaswami, Sabine Janssen, Carsten Bergmann, John R. Heckenlively, Edgar A. Otto, Friedhelm Hildebrandt	2011	83
18	Disorders of sex development and Diamond-Blackfan anemia: is there an association? Pediatric Nephrology ·(unknown), Julia Hoefele, Anne‐Marie Bertrand, Maximilian Stehr, Thierry Leblanc, Gil Tchernia, Maud Simansour, Brigitte Mignot, Martin Alberer, Hans‐Peter Schwarz, Lydie Da Costa	2010	5
19	Mutational analysis of theNPHP4 gene in 250 patients with nephronophthisis Human Mutation ·Julia Hoefele, Ralf Sudbrak, Richard Reinhardt, S. L. Larson, Steffen Hennig, Anita Imm, Leila Keshavarzi, Boris Utsch, Massimo Attanasio, John F. O’Toole, Edgar A. Otto, Friedhelm Hildebrandt	2005	46
20	Mapping of Gene Loci for Nephronophthisis Type 4 and Senior-Løken Syndrome, to Chromosome 1p36 The American Journal of Human Genetics ·G. Valeur, Edgar A. Otto, Nurhayani Hepi Marice Sianipar, Kathrin Saar, Franz Rüschendorf, B.C.P. Polak, Sirpa Ala‐Mello, Julia Hoefele, V. Cimatti, Maria Haller, Heymut Omran, Peter Nürnberg, Friedhelm Hildebrandt	2002	39

About Julia Hoefele

Julia Hoefele is a scholar working on Nephrology, Immunology and Allergy, Genetics, Urology and Molecular Biology, having authored 65 papers that have together received 1.5k indexed citations. Recurring topics across this work include Renal and related cancers (30 papers), Renal Diseases and Glomerulopathies (20 papers), Genetic and Kidney Cyst Diseases (17 papers), Cell Adhesion Molecules Research (12 papers), Genomics and Rare Diseases (8 papers), Pediatric Urology and Nephrology Studies (7 papers), Coagulation, Bradykinin, Polyphosphates, and Angioedema (6 papers) and Genetic Syndromes and Imprinting (5 papers). The work is most often cited by research in Nephrology (347 citations), Genetics (975 citations), Immunology and Allergy (153 citations), Molecular Biology (1.1k citations) and Pediatrics, Perinatology and Child Health (290 citations). Julia Hoefele has collaborated with scholars based in Germany, United States and France. Frequent co-authors include Edgar A. Otto, Friedhelm Hildebrandt, Matthias T. F. Wolf, Ralf Sudbrak, Corinne Antignac, Lutz T. Weber, Hanns‐Georg Klein, Carsten Bergmann, Richard Reinhardt and Heymut Omran. Their work appears in journals such as Pediatric Nephrology, Gene, Nephrology Dialysis Transplantation, European Journal of Human Genetics and Frontiers in Pediatrics.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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