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J. Hoefele · SciRah

Researcher profile · Semantic Scholar

J. Hoefele

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J. Hoefele — researcher profile on SciRah

h-index: 31
Works: 124
Citations: 4,696

Most-cited papers

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.
H. Gee, P. Saisawat, S. Ashraf, T. Hurd +26 more
2013Journal of Clinical Investigation231 citations Open access
Semantic Scholar
Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.
C. Bergmann, Jennifer von Bothmer, Nadina Ortiz Brüchle, A. Venghaus +16 more
2011Journal of the American Society of Nephrology227 citations Open access
Semantic Scholar
KANK deficiency leads to podocyte dysfunction and nephrotic syndrome.
H. Gee, Fujian Zhang, S. Ashraf, Stefan Kohl +19 more
2015Journal of Clinical Investigation186 citations Open access
Semantic Scholar
Genetics in Chronic Kidney Disease: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
A. Köttgen, E. Cornec-Le Gall, J. Halbritter, K. Kiryluk +58 more
2022Kidney International159 citations Open access
Semantic Scholar
Expert consensus guidelines for the genetic diagnosis of Alport syndrome
J. Savige, F. Ariani, F. Mari, M. Bruttini +14 more
2018Pediatric nephrology (Berlin, West)143 citations Open access
Semantic Scholar
Guidelines for Genetic Testing and Management of Alport Syndrome.
J. Savige, B. Lipska-Ziętkiewicz, E. Watson, J. Hertz +40 more
2021American Society of Nephrology. Clinical Journal140 citations Open access
Semantic Scholar
Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome.
A. Büscher, B. Beck, A. Melk, J. Hoefele +11 more
2016American Society of Nephrology. Clinical Journal127 citations Open access
Semantic Scholar
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies
M. Chaki, J. Hoefele, Susan J. Allen, G. Ramaswami +5 more
2011Kidney International126 citations Open access
Semantic Scholar
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
J. Savige, H. Storey, E. Watson, J. Hertz +39 more
2021European Journal of Human Genetics119 citations Open access
Semantic Scholar
De novo variants in neurodevelopmental disorders—experiences from a tertiary care center
T. Brunet, R. Jech, M. Brugger, R. Kovács +30 more
2021Clinical Genetics105 citations Open access
Semantic Scholar
Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency
S. Vavassori, J. Chou, Laura Faletti, V. Haunerdinger +56 more
2021Journal of Allergy and Clinical Immunology83 citations Open access
Semantic Scholar
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
L. Bryant, Dong Li, Samuel G. Cox, Dylan M. Marchione +128 more
2020Science Advances76 citations Open access
Semantic Scholar
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome
Joost Kummeling, Diante E. Stremmelaar, Nicholas Raun, M. Reijnders +39 more
2019bioRxiv72 citations Open access
Semantic Scholar
Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency.
S. Drovandi, B. Lipska-Ziętkiewicz, F. Ozaltin, F. Emma +42 more
2022Kidney International62 citations Open access
Semantic Scholar
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
A. Schmidt, M. Danyel, K. Grundmann, T. Brunet +168 more
2024Nature Genetics50 citations Open access
Semantic Scholar
Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies.
K. Riedhammer, M. Braunisch, R. Günthner, M. Wagner +16 more
2020American Journal of Kidney Diseases46 citations Open access
Semantic Scholar
Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy
S. Weber, K. Strasser, Sabine Rath, Achim Kittke +9 more
2016Pediatric nephrology (Berlin, West)46 citations
Semantic Scholar
Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy.
S. Drovandi, B. Lipska-Ziętkiewicz, F. Ozaltin, F. Emma +40 more
2022Kidney International43 citations Open access
Semantic Scholar
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.
Nazanin Mirza-Schreiber, M. Zech, R. Wilson, T. Brunet +24 more
2021Brain : a journal of neurology37 citations Open access
Semantic Scholar
Next generation sequencing as a useful tool in the diagnostics of mosaicism in Alport syndrome.
S. Beicht, G. Strobl‐Wildemann, Sabine Rath, O. Wachter +6 more
2013Gene35 citations
Semantic Scholar
The 2019 and 2021 International Workshops on Alport Syndrome
S. Daga, Jie Ding, C. Deltas, J. Savige +22 more
2022European Journal of Human Genetics32 citations Open access
Semantic Scholar
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
G. Dworschak, J. Punetha, Jeshurun C. Kalanithy, E. Mingardo +62 more
2021Genetics in Medicine31 citations Open access
Semantic Scholar
DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation.
Ronen Schneider, Konstantin Deutsch, Gregory J. Hoeprich, Jonathan Marquez +29 more
2020American Journal of Human Genetics30 citations Open access
Semantic Scholar
Expanding the mutation spectrum for Fraser syndrome: identification of a novel heterozygous deletion in FRAS1.
J. Hoefele, C. Wilhelm, M. Schiesser, R. Mack +6 more
2013Gene29 citations
Semantic Scholar
Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion
J. Hoefele, A. Nayır, M. Chaki, A. Imm +3 more
2011Pediatric nephrology (Berlin, West)29 citations Open access
Semantic Scholar
Lifelong Effect of Therapy in Young Patients with the COL4A5 Alport Missense Variant p.(Gly624Asp): a Prospective Cohort Study.
Jan Boeckhaus, J. Hoefele, K. Riedhammer, M. Nagel +8 more
2022Nephrology, Dialysis and Transplantation27 citations Open access
Semantic Scholar
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1
Bart Appelhof, M. Wagner, J. Hoefele, Anja Heinze +13 more
2020European Journal of Human Genetics25 citations Open access
Semantic Scholar
Dealing with the incidental finding of secondary variants by the example of SRNS patients undergoing targeted next-generation sequencing
S. Weber, A. Büscher, H. Hagmann, M. Liebau +10 more
2015Pediatric nephrology (Berlin, West)24 citations
Semantic Scholar
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
Patricia L. Weng, A. Majmundar, Kamal Khan, Tze Y. Lim +63 more
2021American Journal of Human Genetics23 citations Open access
Semantic Scholar
A case report and review of the literature indicate that HMGA2 should be added as a disease gene for Silver-Russell syndrome.
G. Leszinski, K. Warncke, J. Hoefele, M. Wagner
2018Gene21 citations
Semantic Scholar
Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS
M. Braunisch, K. Riedhammer, Pierre-Maurice Herr, Sarah Draut +11 more
2020European Journal of Human Genetics19 citations Open access
Semantic Scholar
Heterozygous COL4A3 Variants in Histologically Diagnosed Focal Segmental Glomerulosclerosis
M. Braunisch, M. Büttner-Herold, R. Günthner, R. Satanovskij +9 more
2018Frontiers in Pediatrics19 citations Open access
Semantic Scholar
Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience
K. Riedhammer, Jasmina Ćomić, V. Tasic, J. Putnik +8 more
2023European Journal of Human Genetics18 citations Open access
Semantic Scholar
Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis
J. König, Rebeka Karsay, Joachim Gerss, Karl P. Schlingmann +27 more
2022Kidney International Reports18 citations Open access
Semantic Scholar
Precise variant interpretation, phenotype ascertainment, and genotype–phenotype correlation of children in the EARLY PRO‐TECT Alport trial
Jan Boeckhaus, J. Hoefele, K. Riedhammer, B. Tönshoff +18 more
2020Clinical Genetics17 citations Open access
Semantic Scholar
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
K. Riedhammer, C. Siegel, B. Alhaddad, C. Montoya +4 more
2017Frontiers in Pediatrics17 citations Open access
Semantic Scholar
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans
Zeineb Bakey, Oscar A. Cabrera, J. Hoefele, Dinu Antony +22 more
2023PLoS Genetics16 citations Open access
Semantic Scholar
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling
A. Holtz, Rachel Vancoil, Elizabeth A VanSickle, D. A. Carere +44 more
2022Genetics in Medicine16 citations Open access
Semantic Scholar
The Hypomorphic Variant p.(Gly624Asp) in COL4A5 as a Possible Cause for an Unexpected Severe Phenotype in a Family With X-Linked Alport Syndrome
Eva Pauline Macheroux, M. Braunisch, Stephanie Pucci Pegler, R. Satanovskij +6 more
2019Frontiers in Pediatrics16 citations Open access
Semantic Scholar
Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice
C. Deltas, Gregory Papagregoriou, Stavroula F. Louka, Apostolos Malatras +10 more
2023Genes14 citations Open access
Semantic Scholar
Re‐sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER/VACTERL, VACTER/VACTERL‐like association, and isolated anorectal malformation
Corina E. Thiem, Jil D. Stegmann, A. Hilger, Lea Waffenschmidt +15 more
2022Birth Defects Research14 citations Open access
Semantic Scholar
MAP2 – A Candidate Gene for Epilepsy, Developmental Delay and Behavioral Abnormalities in a Patient With Microdeletion 2q34
D. Westphal, Stephanie Andres, C. Makowski, T. Meitinger +1 more
2018Frontiers in Genetics14 citations Open access
Semantic Scholar
A De Novo Missense Variant in POU3F2 Identified in a Child with Global Developmental Delay
D. Westphal, K. Riedhammer, R. Kovács-Nagy, T. Meitinger +2 more
2018Neuropediatrics14 citations
Semantic Scholar
Truncating Wilms Tumor Suppressor Gene 1 Mutation in an XX Female with Adult-Onset Focal Segmental Glomerulosclerosis and Streak Ovaries: A Case Report
J. Hoefele, M. Kemper, U. Schoenermarck, Susanna Mueller +2 more
2016Nephron12 citations
Semantic Scholar
A novel interstitial deletion of 10q24.2q24.32 in a patient with renal coloboma syndrome.
J. Hoefele, M. Gabert, U. Heinrich, K. Benz +4 more
2012European Journal of Medical Genetics12 citations
Semantic Scholar
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses
M. Krenn, Matias Wagner, G. Zulehner, Rosa Weng +19 more
2023Journal of Neurology11 citations Open access
Semantic Scholar
High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases
M. Najafi, K. Riedhammer, Aboulfazl Rad, P. N. Torbati +15 more
2022Frontiers in Pediatrics11 citations Open access
Semantic Scholar
Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes
K. Breuer, K. Riedhammer, N. Müller, B. Schaidinger +12 more
2022European Journal of Human Genetics11 citations Open access
Semantic Scholar
Congenital lymphedema as a rare and first symptom of tuberous sclerosis complex.
Jürgen Klinner, Marcus Krüger, T. Brunet, C. Makowski +4 more
2020Gene10 citations
Semantic Scholar
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.
Ria Schönauer, Wen-Jun Jin, Christin Findeisen, I. Valenzuela +36 more
2023American Journal of Human Genetics9 citations Open access
Semantic Scholar

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