About

Eamonn Maher, MD, is an Assistant Professor in the Department of Dermatology at the University of Minnesota. He is a dermatologist with a special interest in complex medical dermatology, particularly in the areas of cutaneous lymphomas and connective tissue diseases such as Lupus, Dermatomyositis, and Systemic Sclerosis. Dr. Maher completed a fellowship at NYU in advanced medical dermatology with an emphasis on these areas. He enjoys collaborating with other physicians to provide high-quality, patient-centered, multi-disciplinary care for individuals with these types of rare and complicated diseases. His research interests include advanced medical dermatology, cutaneous B and T cell lymphoma, and connective tissue disease. His clinical practice focuses on B and T cell lymphoma, Lupus, Dermatomyositis, Systemic Sclerosis, severe cutaneous adverse drug reactions, and hospital dermatology.

Research topics

• Medicine
• Internal medicine
• Biology
• Genetics
• Computational biology
• Surgery

Selected publications

• Expanding the clinical tumor phenotype of the <i>EPAS1</i> -asssociated tumor syndrome

  The Journal of Clinical Endocrinology & Metabolism · 2026-01-09 · 1 citations

  articleOpen access

  CONTEXT: Since the original discovery of the Pacak-Zhuang syndrome (PZS) in 2012, defined by the clinical triad of pheochromocytoma/paraganglioma (PPGL) and/or duodenal ampullar somatostatinoma with erythrocytosis, multiple multisystemic phenotypes have been identified in patients with somatic mosaic pathogenic variants in EPAS1/HIF2A. Deep phenotyping of patients along with evaluation of a transgenic murine model has led to the understanding of the role of HIF-2α in developmental processes, including tumor development. Interestingly, pancreatic neuroendocrine tumors (NETs) occur in von Hippel-Lindau disease and the VHL gene product regulates HIF-2α expression. OBJECTIVE: Characterize pancreatic NETs in PZS. METHODS: We have reviewed the clinical records in the index patient at Addenbrooke's Hospital (UK) and a cohort of patients with PZS from the NIH were assessed for pancreatic NETs. RESULTS: Herein, we describe a novel series from two institutions of patients with EPAS1-associated pancreatic neuroendocrine tumors including a case of a nonfunctioning pancreatic NET in association with an EPAS1 somatic mosaic variant. CONCLUSION: This case study extends our current understanding of the phenotypic spectrum in PZS and links pancreatic NETs to an additional hypoxia-associated gene, namely EPAS1.

  PublisherDOI

• Genotype-specific neoplastic risk profiles in patients with VHL disease

  Endocrine Related Cancer · 2025-04-09 · 1 citations

  articleOpen access

  Hereditary tumor predisposition syndromes pose a challenge for early detection and timely treatment of tumors. In von Hippel-Lindau disease, desirable personalized surveillance programs are lacking due to insufficient data on genotype-specific risk profiles of individual mutations. To describe neoplastic risk profiles for carriers of pathogenic and likely pathogenic VHL germline mutations, our observational study recruited 1,350 participants from 40 centers worldwide. 432 different VHL germline mutations were observed, with p.Asn78Ser, p.Arg161Ter, p.Arg161Gln, p.Arg167Gln, p.Arg167Trp and p.Tyr98His being the six most frequent, occurring in a total of 493 carriers (36.5%) and in ≥30 patients each. Age-related penetrance risks for retinal hemangioblastoma, central nervous system hemangioblastoma, renal cell carcinoma, pancreatic neuroendocrine tumors and pheochromocytoma/paraganglioma in carriers of the most frequent VHL mutations were assessed. In addition, the number of organs affected, the frequency of surgery and the outcome are reported. Pairwise comparisons of the age-dependent tumor penetrance of these six mutations showed that 47 out of 90 pairs were significantly different. The most significant associations were found in p.Tyr98His (n = 19), followed by p.Arg161Ter (n = 10). All pairwise comparisons of mutations affecting different codons showed at least one significant (P < 0.05) difference, except for p.Asn78Ser vs p.Arg161Ter. Thus, tumor risk varied by VHL mutation type and location, but did not differ between the truncating mutation p.Arg161Ter and the missense mutation p.Asn78Ser. Our study demonstrates the importance of mutation-specific phenotype prediction. With appropriate validation, the data have important implications for risk assessment and decision making in tumor prevention for carriers of the respective VHL mutations.

  PublisherDOI

• Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity

  medRxiv · 2025-06-06 · 3 citations

  preprintOpen access

  Abstract Genes and Health (G&amp;H) is a biomedical study of adult British-Pakistani and -Bangladeshi research volunteers enriched for autozygosity. We performed whole exome sequencing in 44,028 G&amp;H participants, establishing the largest publicly available South Asian exome resource linked to longitudinal electronic health records. We performed association analyses for 646 traits under additive and recessive models, and meta-analysis of 33 cardiometabolic traits with UK Biobank, finding more than 100 novel gene-phenotype associations such as ADAM15 with pulmonary oedema and ADCY6 with intracerebral haemorrhage. We identified 2,991 genes with rare biallelic predicted loss-of-function (“knockout”) genotypes, 546 of which had not been previously reported. We show that the presence of knockouts in adults is associated with 2.2-times higher likelihood of drugs progressing beyond Phase 1 clinical trial. We further illustrate how their phenotypic profile can enhance efficacy and safety assessment of drug targets and aid in the interpretation of variants with ambiguous clinical significance in autosomal recessive disease genes.

  PublisherOA PDFDOI

• Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancer

  Genetics in Medicine · 2025-09-05

  articleOpen access

  PURPOSE: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare cancer susceptibility syndrome exclusively attributable to pathogenic variants in FH (HGNC:3700). This article quantitatively weights the phenotypic context (PP4/PS4) of such very rare variants in FH. METHODS: likelihood ratios (LLRs) as applicable within the updated American College of Medical Genetics and Genomics/Association for Molecular Pathology variant classification framework. RESULTS: For HLRCC, the PG-VRV-LR was estimated to be 2669.4 (95% CI 1843.4-3881.2, LLR 10.77) for truncating variants and 214.7 (95% CI 185.0-246.9, LLR 7.33) for missense variants. For renal cancer, the PG-VRV-LR was 95.5 (95% CI 48.9-183.0, LLR 6.23) for truncating variants and 5.8 (95% CI 3.5-9.3, LLR 2.39) for missense variants. Clustering analysis in HLRCC cases revealed 3 "hotspot" regions wherein the DS-VRMV-LR increased to 1226.9. CONCLUSION: These data provide quantitative measures for very rare missense and truncating variants in FH, which reflect the differing phenotypic specificity of HLRCC and renal cancer and may be applicable in clinical variant classification.

  PublisherDOI

• The impact of the new WHO classification of renal cell carcinoma on the diagnosis of hereditary leiomyomatosis and renal cell carcinoma

  Nephrology Dialysis Transplantation · 2025-02-20 · 7 citations

  reviewOpen access

  Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome is caused by heterozygous germline variants in the fumarate hydratase (FH) gene. Inheritance follows an autosomal dominant pattern. Loss of FH confers a predisposition for various benign and malignant neoplasms, including cutaneous leiomyomas, uterine fibroids and FH-deficient renal cell carcinoma. While benign, cutaneous and uterine manifestations have a relevant impact on quality of life and risk for complications, the vast majority of FH-deficient RCCs exhibit an aggressive behaviour with invasive growth and the potential for early metastatic spread. Additionally, pathogenic germline FH variants have been associated with other neoplasms, such as adrenal gland and Leydig cell tumours. The aggressive behaviour of FH-deficient RCC challenges nephron-sparing resection strategies, as a wide margin is recommended. Even after early nephrectomy for surgical removal of FH-deficient renal cell carcinomas, there is a relevant risk for distant metastasis as well as the remaining predisposition for de novo primary renal tumours in the other kidney. Active screening is central to HLRCC care since no preventative HLRCC-specific treatment exists. Vascular endothelial growth factor/epidermal growth factor receptor-directed treatment regimes, such as erlotinib/bevacizumab, demonstrate efficacy against HLRCC-associated RCC. This emphasizes the importance of establishing the correct diagnosis in HLRCC early on to guide therapeutic decisions. Morphologic criteria as well as specific immunohistochemical staining and molecular genetics allow the identification of FH-deficient RCC. Changes made in the recent 2022 World Health Organization classification impact the diagnosis of HLRCC in multiple ways. This commentary aims to discuss this impact and raise awareness among pathologists as well as clinicians involved in the care of patients with HLRCC.

  PublisherDOI

• In vivo gastrin releasing peptide receptor expression in SDH deficient wild-type gastrointestinal stromal tumours (GIST): potential for theranostic applications

  EJNMMI Research · 2025-10-21 · 3 citations

  articleOpen access

  Abstract Background Succinate dehydrogenase (SDH) deficient wild-type Gastrointestinal Stromal Tumours (wtGIST) are a rare GIST subtype with limited treatment options. Gallium-68 labelled Gastrin Releasing Peptide Receptor (GRPR) antagonist NeoB has shown promise in PET imaging for multiple primary malignancies. This investigation sought to assess the biodistribution of [ 68 Ga]NeoB via PET/CT imaging in metastatic wtGIST patients and aimed to evaluate GRPR expression in lesions to determine the ligand’s potential for patient selection in future therapeutic trials. Results Twelve patients with histologically confirmed metastatic wtGIST were enrolled. [ 68 Ga]NeoB PET/CT imaging was conducted for lesion segmentation and analysis of uptake characteristics. 8 of 12 (66.7%) patients exhibited intense but heterogeneous [ 68 Ga]NeoB uptake in lesions, with variable tracer uptake both within and between lesions. Physiological uptake was highest in the pancreas, liver, and spleen. Four patients (33.3%) displayed minimal or no uptake in tumour lesions. Conclusions The majority of wtGIST patients in this small cohort show lesions with intense [ 68 Ga]NeoB uptake. Heterogeneity of uptake indicates GRPR has highly variable inter- and intralesional expression. NeoB has potential for theranostic application in wtGIST, with limited effective standard of care treatments available. Ongoing trials are investigating the therapeutic use of [ 177 Lu]NeoB in this setting. Clinical trial number Not applicable.

  PublisherOA PDFDOI

• Multi-Platform Curation in the Development of ACMG/AMP Specifications for Von Hippel Lindau (VHL) Disease

  Genetics in Medicine · 2025-08-27

  preprintOpen access
  PublisherOA PDFDOI

• Yeast MoClo Secretion and Surface Display Toolkit 2.0: Improvements and Applications for Analysis of protein–protein Interactions and Whole-Cell Biocatalysis

  ACS Synthetic Biology · 2025-08-19

  articleOpen access

  that facilitates rapid optimization of signal peptides and anchor proteins for efficient secretion and/or surface display of heterologous proteins of interest. Here we describe further improvements and applications of this MoClo yeast secretion and display (MoClo YSD) toolkit. New parts encoding anchor proteins based on N-terminal fusion to a truncated Aga1 and C-terminal fusion to Aga2, each with three possible epitope tag options, are described. We also added parts that facilitate high throughput detection of secreted proteins of interest through GFP fluorescence complementation and parts encoding "secretion boosting" yeast proteins, whose overexpression has previously been reported to enhance secretion of heterologous proteins. In addition, two surface display applications of the toolkit are showcased. We demonstrate that yeast surface display of an anti-GFP nanobody allows cost-effective evaluation of the interactions of GFP-tagged proteins of interest, either by flow cytometry or yeast-based coimmunoprecipitation. In addition, using yeast cells as whole-cell catalysts, we show that codisplay of the poly(ethylene terephthalate) (PET) degrading enzyme leaf-branch compost cutinase with hydrophobin1 enhances the breakdown of PET plastic, while triple codisplay of these proteins with MHETase causes complete conversion of the intermediary monohydroxy-ethyl-terephthalate (MHET) to terephthalic acid. The diverse applications described herein demonstrate the broad applications of the updated MoClo YSD toolkit 2.0 in both synthetic biology and other research fields.

  PublisherDOI

• Germline variants in <i>UHRF1</i> are associated with multilocus imprinting disturbance in humans and mice

  Proceedings of the National Academy of Sciences · 2025-08-18 · 3 citations

  articleOpen accessSenior authorCorresponding

  The investigation of congenital imprinting disorders (CIDs) provides opportunities to elucidate the molecular mechanisms and role of genomic imprinting in development and human disease. Beckwith–Wiedemann spectrum (BWSp) is a prototypic CID resulting from genetic and epigenetic alterations of imprinted genes at chromosome 11p15.5. In up to a quarter of individuals with BWSp, the epigenetic alterations are not confined to 11p15.5 imprinting control regions but also involve other imprinted gene clusters (multilocus imprinting disturbance; MLID). In a consanguineous family with two children diagnosed with BWSp and MLID, the affected individuals were homozygous for a missense variant in UHRF1 , a gene previously implicated in the maintenance of DNA methylation. To investigate whether the UHRF1 c. 2001G&gt;C, p.(Lys667Asn) missense substitution predisposes to abnormal establishment/maintenance of genomic imprinting patterns, a genetically engineered mouse model with a Uhrf1 p.(Lys661Asn) variant was developed. Mice homozygous for the variant born to heterozygous mothers did not display an abnormal phenotype, but homozygotes born to healthy homozygous mothers displayed a range of phenotypes including prenatal lethality. Also, MLID was observed in affected mouse embryos. These findings are consistent with biallelic UHRF1 variants in affected individuals resulting in an autosomal recessively inherited cause of MLID in humans and expand the range of epigenetic disorders associated with UHRF1.

  PublisherOA PDFDOI

• Multiple [18-F]-Fluorodeoxyglucose-Avid Dermatofibromas Mimicking Cutaneous Metastasis: A Case Report Highlighting a Diagnostic Pitfall in Dermatology

  Case Reports in Dermatology · 2025-11-10

  articleOpen accessSenior author

  Introduction: Dermatofibromas are benign skin tumors that are typically diagnosed clinically without the need for biopsy. While they are not commonly associated with PET imaging findings, they have been occasionally reported to exhibit FDG uptake in radiology literature. However, this remains significantly underrecognized by many dermatologists. Case Presentation: We describe a 42-year-old woman with a history of HER2-positive breast cancer who underwent PET-CT for surveillance. Multifocal FDG-avid nodules were noted and initially interpreted as possible cutaneous metastases. Dermatologic evaluation revealed longstanding, stable papules consistent with dermatofibromas. Biopsy was deferred due to classic features and diagnostic certainty. Conclusion: Dermatofibromas can appear hypermetabolic on PET imaging due to histiocytic and inflammatory cell activity. Awareness of this pitfall is important for dermatologists involved in the care of oncology patients, as recognition may prevent unnecessary biopsies, oncologic escalation, and patient anxiety.

  PublisherOA PDFDOI

Frequent coauthors

• Christopher J. Gordon

  Woolcock Institute of Medical Research

  1100 shared

• K. Robinson

  University of Nottingham

  996 shared

• Helen M. Dewey

  University of Melbourne

  796 shared

• Julie Bernhardt

  University of Melbourne

  792 shared

• L. D. Smith

  UCL Biomedical Research Centre

  784 shared

• Nick Wilson

  Edinburgh Royal Infirmary

  776 shared

• Mary Matthews

  Philadelphia VA Medical Center

  776 shared

• David James

  University of Nottingham

  776 shared