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Eamonn R. Maher

university of cambridge

134H-index
850Paper Count
6.8WCitation Count
Published Papers 326
Publication Date
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Familial pneumothorax in twins with Tatton-Brown-Rahman DNMT3A overgrowth syndrome
err2026-02-25
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errSarju G. Mehta; Simon Holden; Judith Babar; Sumit Karia; Maria T. A. Wetscherek; Allanah P. Barker; Jessica White; Sunwoo Liv Lee; Alison Foster; Eamonn R. Maher; Stefan J. Marciniak
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Expanding the clinical tumor phenotype of the EPAS1-asssociated tumor syndrome
err2026-01-01
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PREAI
errCole, Yasemin; Howarth, Sophie; Javaid, Asna; Tarpey, Patrick; Scoffings, Daniel; Maher, Eamonn R.; Godfrey, Anna L.; Pacak, Karel; Zhuang, Zhengping; Alkaissi, Hussam; Casey, Ruth T.
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In vivo gastrin releasing peptide receptor expression in SDH deficient wild-type gastrointestinal stromal tumours (GIST): potential for theranostic applications
err2025-10-21
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errDavid G. E. Hulse; Ines Harper; Fung Tan; Daniel Gillett; Victoria Warnes; Mary McLean; Pascal Wodtke; Ferdia Gallagher; Eamonn R Maher; Olivier Giger; Ramesh Bulusu; Luigi Aloj; Ruth T. Casey
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Familial NSD1 Exon 3 Deletion Associated with Phenotypic and Epigenetic Variability
err2025-10-13
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errSunwoo Liv Lee; Alison Foster; Dalit May; Ciara Batterton; Eguzkine Ochoa; Bryndis Yngvadottir; Ruth Armstrong; Meena Balasubramanian; Mary O’Driscoll; Marc Tischkowitz; France Docquier; Fay Rodger; Ezequiel Martin; Ana Toribio; Eamonn R. Maher
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Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC (Hereditary Leiomyomatosis and Renal Cell Cancer) and renal cancer
err2025-09-04
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errSophie Allen; Charlie F. Rowlands; Samantha Butler; Miranda Durkie; Carrie Horton; Tina Pesaran; Marcy Richardson; Rachel Robinson; Alice Garrett; George J. Burghel; Alison Callaway; Joanne Field; Bethan Frugtniet; Sheila Palmer-Smith; Jonathan Grant; Judith Pagan; Trudi McDevitt; Katie Snape; Avgi Andreou; Eamonn R. Maher; Helen Hanson; Terri McVeigh; Clare Turnbull
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Clinical and genetic features of multiple primary tumours cohorts with a renal cell carcinoma: Implications for molecular genetic investigations
err2025-08-22
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errHuairen Zhang; Bryndis Yngvadottir; Avgi Andreou; Yasemin Cole; Emma R. Woodward; James Whitworth; Eamonn R. Maher
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Author Correction: International consensus statement on the diagnosis and management of phaeochromocytoma and paraganglioma in children and adolescents
err2025-08-13
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PREAI
errRuth T. Casey; Emile Hendriks; Cheri Deal; Steven G. Waguespack; Verena Wiegering; Antje Redlich; Scott Akker; Rathi Prasad; Martin Fassnacht; Roderick Clifton-Bligh; Laurence Amar; Stefan Bornstein; Letizia Canu; Evangelia Charmandari; Alexandra Chrisoulidou; Maria Currás Freixes; Ronald de Krijger; Luisa de Sanctis; Antonio Fojo; Amol J. Ghia; Angela Huebner; Vasilis Kosmoliaptsis; Michaela Kuhlen; Marco Raffaelli; Charlotte Lussey-Lepoutre; Stephen D. Marks; Naris Nilubol; Mirko Parasiliti-Caprino; Henri H.J.L.M. Timmers; Anna Lena Zietlow; Mercedes Robledo; Anne-Paule Gimenez-Roqueplo; Ashley B. Grossman; David Taïeb; Eamonn R. Maher; Jacques W. M. Lenders; Graeme Eisenhofer; Camilo Jimenez; Karel Pacak; Christina Pamporaki
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Pulmonary cysts as a diagnostic indicator of Birt-Hogg-Dubé syndrome in patients with renal neoplasm
err2025-08-06
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errAmreen Shakur; Grant D. Stewart; Timothy J. Sadler; Judith L. Babar; Anne Y. Warren; Stephen Scullion; Abhishekh H. Ashok; Sumit Karia; Igor Chipurovski; James Whitworth; Stefan J. Marciniak; Eamonn R. Maher; Maria TA Wetscherek
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Whole Genome Sequencing to Identify Novel Germline Fumarate Hydratase Mutation in Child With Bilateral Renal Cell Carcinoma
err2025-02-04
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PREAI
errKershaw, Christopher; Demain, Leigh; Baker, Eleanor; Burghel, George; Durkie, Miranda; Forde, Claire; Makin, Guy; Cheesman, Edmund; Warren, Anne; Gokhale, David; Schlecht, Helene; Maher, Eamonn; Oliveira, Pedro; Woodward, Emma
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obituary Charis Eng: an appreciation
err2024-12-31
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PREAI
errFoulkes, William D.; Hodgson, Shirley, V; Maher, Eamonn R.; Ngeow, Joanne; Reardon, Willie; Trembath, Richard
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International consensus statement on the diagnosis and management of phaeochromocytoma and paraganglioma in children and adolescents (Aug, 10.1038/s41574-024-01024-5, 2024)
err2024-08-27
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errCasey, Ruth T.; Hendriks, Emile; Deal, Cheri; Waguespack, Steven G.; Wiegering, Verena; Redlich, Antje; Akker, Scott; Prasad, Rathi; Fassnacht, Martin; Clifton-Bligh, Roderick; Amar, Laurence; Bornstein, Stefan; Canu, Letizia; Charmandari, Evangelia; Chrisoulidou, Alexandra; Freixes, Maria Curras; de Krijger, Ronald; de Sanctis, Luisa; Fojo, Antonio; Ghia, Amol J.; Huebner, Angela; Kosmoliaptsis, Vasilis; Kuhlen, Michaela; Raffaelli, Marco; Lussey-Lepoutre, Charlotte; Marks, Stephen D.; Nilubol, Naris; Parasiliti-Caprino, Mirko; Timmers, Henri H. J. L. M.; Zietlow, Anna Lena; Robledo, Mercedes; Gimenez-Roqueplo, Anne-Paule; Grossman, Ashley B.; Taieb, David; Maher, Eamonn R.; Lenders, Jacques W. M.; Eisenhofer, Graeme; Jimenez, Camilo; Pacak, Karel; Pamporaki, Christina
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An Unusual Cause of Chronic and Recalcitrant Generalized Pruritus in an Immunosuppressed Patient
err2024-08-26
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PREAI
errShah, Aarohi; Kullberg, Sara A.; Maher, Eamonn; Giubellino, Alessio; Schultz, Brittney
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International consensus statement on the diagnosis and management of phaeochromocytoma and paraganglioma in children and adolescents
err2024-08-15
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errCasey, Ruth T.; Hendriks, Emile; Deal, Cheri; Waguespack, Steven G.; Wiegering, Verena; Redlich, Antje; Akker, Scott; Prasad, Rathi; Fassnacht, Martin; Clifton-Bligh, Roderick; Amar, Laurence; Bornstein, Stefan; Canu, Letizia; Charmandari, Evangelia; Chrisoulidou, Alexandra; Freixes, Maria Curras; de Krijger, Ronald; de Sanctis, Luisa; Fojo, Antonio; Ghia, Amol J.; Huebner, Angela; Kosmoliaptsis, Vasilis; Kuehlen, Michaela; Raffaelli, Marco; Lussey-Lepoutre, Charlotte; Marks, Stephen D.; Nilubol, Naris; Parasiliti-Caprino, Mirko; Timmers, Henri H. J. L. M.; Zietlow, Anna Lena; Robledo, Mercedes; Gimenez-Roqueplo, Anne-Paule; Grossman, Ashley B.; Taieb, David; Maher, Eamonn R.; Lenders, Jacques W. M.; Eisenhofer, Graeme; Jimenez, Camilo; Pacak, Karel; Pamporaki, Christina
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Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis
err2024-08-01
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errMackay, Deborah J. G.; Gazdagh, Gabriella; Monk, David; Brioude, Frederic; Giabicani, Eloise; Krzyzewska, Izabela M.; Kalish, Jennifer M.; Maas, Saskia M.; Kagami, Masayo; Beygo, Jasmin; Kahre, Tiina; Tenorio-Castano, Jair; Ambrozaityte, Laima; Burnyte, Birute; Cerrato, Flavia; Davies, Justin H.; Ferrero, Giovanni Battista; Fjodorova, Olga; Manero-Azua, Africa; Pereda, Arrate; Russo, Silvia; Tannorella, Pierpaola; Temple, Karen I.; Ounap, Katrin; Riccio, Andrea; de Nanclares, Guiomar Perez; Maher, Eamonn R.; Lapunzina, Pablo; Netchine, Irene; Eggermann, Thomas; Bliek, Jet; Tumer, Zeynep
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ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome
err2024-07-31
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errGeilswijk, Marianne; Genuardi, Maurizio; Woodward, Emma R.; Nightingale, Katie; Huber, Jazzmin; Madsen, Mia Gebauer; van der Heij, Dieke; Lisseman, Ian; Marle-Ballange, Jenny; Mccarthy, Cormac; Menko, Fred H.; Moorselaar, R. Jeroen A. van; Radzikowska, Elzbieta; Richard, Stephane; Rajan, Neil; Sommerlund, Mette; Wetscherek, Maria T. A.; Di Donato, Nataliya; Maher, Eamonn R.; Brunet, Joan
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Description and Cross-Sectional Analyses of 25,880 Adults and Children in the UK National Registry of Rare Kidney Diseases Cohort
err2024-07-01
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errWong, Katie; Pitcher, David; Braddon, Fiona; Downward, Lewis; Steenkamp, Retha; Masoud, Sherry; Annear, Nicholas; Barratt, Jonathan; Bingham, Coralie; Coward, Richard J.; Chrysochou, Tina; Game, David; Griffin, Sian; Hall, Matt; Johnson, Sally; Kanigicherla, Durga; Frankl, Fiona Karet; Kavanagh, David; Kerecuk, Larissa; Maher, Eamonn R.; Moochhala, Shabbir; Pinney, Jenny; Sayer, John A.; Simms, Roslyn; Sinha, Smeeta; Srivastava, Shalabh; Tam, Frederick W. K.; Thomas, Kay; Turner, A. Neil; Walsh, Stephen B.; Waters, Aoife; Wilson, Patricia; Wong, Edwin; Sy, Karla Therese L.; Huang, Kui; Ye, Jamie; Nitsch, Dorothea; Saleem, Moin; Bockenhauer, Detlef; Bramham, Kate; Gale, Daniel P.
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Characteristics, aetiology and implications for management of multiple primary renal tumours: a systematic review
err2024-05-27
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errZhang, Huairen; Andreou, Avgi; Bhatt, Rupesh; Whitworth, James; Yngvadottir, Bryndis; Maher, Eamonn R.
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Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort
errLANCET
IF88.5
err2024-03-01
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errWong, Katie; Pitcher, David; Braddon, Fiona; Downward, Lewis; Steenkamp, Retha; Annear, Nicholas; Barratt, Jonathan; Bingham, Coralie; Chrysochou, Constantina; Coward, Richard J.; Game, David; Griffin, Sian; Hall, Matt; Johnson, Sally; Kanigicherla, Durga; Frankl, Fiona Karet; Kavanagh, David; Kerecuk, Larissa; Maher, Eamonn R.; Moochhala, Shabbir; Pinney, Jenny; Sayer, John A.; Simms, Roslyn; Sinha, Smeeta; Srivastava, Shalabh; Tam, Frederick W. K.; Turner, Andrew Neil; Walsh, Stephen B.; Waters, Aoife; Wilson, Patricia; Wong, Edwin; Taylor, Christopher Mark; Nitsch, Dorothea; Saleem, Moin; Bockenhauer, Detlef; Bramham, Kate; Gale, Daniel P.
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