Analysis of germline variants in CDH1, IGFBP3, MMP1, MMP3, STK15 and VEGF in familial and sporadic renal cell carcinoma. by Christopher Ricketts, Maurice P Zeegers, Jan Lubinski, Eamonn R Maher

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Hereditary Renal Cell Carcinoma Syndromes by Jodie K. Maranchie, Brian M. Schuch, Gennady Bratslavsky, Eamonn R. Maher

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OTULIN deficiency in ORAS causes cell type‐specific LUBAC degradation, dysregulated TNF signalling and cell death by Rune Busk Damgaard, Paul R Elliott, Kirby N Swatek, Eamonn R Maher, Polina Stepensky, Orly Elpeleg, David Komander, Yackov Berkun

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Pantothenate kinase-associated neurodegeneration (PKAN): molecular confirmation of a Turkish patient with a rare frameshift mutation in the coding region of the PANK2 gene by Hakan Cangül, Ozlem Ozdemir, Tahsin Yakut, Mehmet Okan, Neil V Morgan, Birol Baytan, Manju A Kurian, Ronald Spiegel, Eamonn R Maher

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A legacy of tinnitus: multiple head and neck paragangliomas by Jeremy J. Turner, Niamh M. Martin, Karim Meeran, Eamonn R. Maher, Rajesh V. Thakker, Emma C.I. Hatfield, Tricia M.M. Tan

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Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome). by Esther Meyer, Derek Lim, Shanaz Pasha, Louise J Tee, Fatimah Rahman, John R W Yates, C Geoffrey Woods, Wolf Reik, Eamonn R Maher

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Ensuring that COVID-19 research is inclusive: guidance from the NIHR INCLUDE project by Miles D Witham, Alistair S Hall, Camille B Carroll, Eamonn R Maher, Rebecca H Maier, Eleanor Anderson, Paul M Dark, Kim Down, Joanna Knee, Gail A Mountain, Gary Nestor

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Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach by Larissa Bilo, Eguzkine Ochoa, Sunwoo Lee, Daniela Dey, Ingo Kurth, Florian Kraft, Fay Rodger, France Docquier, Ana Toribio, Leonardo Bottolo, Gerhard Binder, György Fekete, Miriam Elbracht, Eamonn R. Maher, Matthias Begemann, Thomas Eggermann

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Profiling of Somatic Mutations in Phaeochromocytoma and Paraganglioma by Targeted Next Generation Sequencing Analysis by Andrea Luchetti, Diana Walsh, Fay Rodger, Graeme Clark, Tom Martin, Richard Irving, Mario Sanna, Masahiro Yao, Mercedes Robledo, Hartmut P. H. Neumann, Emma R. Woodward, Farida Latif, Stephen Abbs, Howard Martin, Eamonn R. Maher

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Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes by Vagheesh M. Narasimhan, Raheleh Rahbari, Aylwyn Scally, Arthur Wuster, Dan Mason, Yali Xue, John Wright, Richard C. Trembath, Eamonn R. Maher, David A. van Heel, Adam Auton, Matthew E. Hurles, Chris Tyler-Smith, Richard Durbin

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The role of [68 Ga]Ga-DOTATATE PET/CT in wild-type KIT/PDGFRA gastrointestinal stromal tumours (GIST) by Luigi Aloj, Olivier Giger, Iosif A. Mendichovszky, Ben G. Challis, Meytar Ronel, Ines Harper, Heok Cheow, Rogier ten Hoopen, Deborah Pitfield, Ferdia A. Gallagher, Bala Attili, Mary McLean, Robin L. Jones, Palma Dileo, Venkata Ramesh Bulusu, Eamonn R. Maher, Ruth T. Casey

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SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice by Ruth T. Casey, Rogier ten Hoopen, Eguzkine Ochoa, Benjamin G. Challis, James Whitworth, Philip S. Smith, Jose Ezequiel Martin, Graeme R. Clark, Fay Rodger, Mel Maranian, Kieren Allinson, Basetti Madhu, Thomas Roberts, Luis Campos, Joanne Anstee, Soo-Mi Park, Alison Marker, Colin Watts, Venkata R. Bulusu, Olivier T. Giger, Eamonn R. Maher

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Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease. by Neil V Morgan, Mark R Morris, Hakan Cangul, Diane Gleeson, Anna Straatman-Iwanowska, Nicholas Davies, Stephen Keenan, Shanaz Pasha, Fatimah Rahman, Dean Gentle, Maaike P G Vreeswijk, Peter Devilee, Margaret A Knowles, Serdar Ceylaner, Richard C Trembath, Carlos Dalence, Erol Kismet, Vedat Köseoğlu, Hans-Christoph Rossbach, Paul Gissen, David Tannahill, Eamonn R Maher

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Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression by Nuno Rocha, David A Bulger, Andrea Frontini, Hannah Titheradge, Sigrid Bjerge Gribsholt, Rachel Knox, Matthew Page, Julie Harris, Felicity Payne, Claire Adams, Alison Sleigh, John Crawford, Anette Prior Gjesing, Jette Bork-Jensen, Oluf Pedersen, Inês Barroso, Torben Hansen, Helen Cox, Mary Reilly, Alex Rossor, Rebecca J Brown, Simeon I Taylor, Duncan McHale, Martin Armstrong, Elif A Oral, Vladimir Saudek, Stephen O’Rahilly, Eamonn R Maher, Bjørn Richelsen, David B Savage, Robert K Semple

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Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis by Deborah J. G. Mackay, Gabriella Gazdagh, David Monk, Frederic Brioude, Eloise Giabicani, Izabela M. Krzyzewska, Jennifer M. Kalish, Saskia M. Maas, Masayo Kagami, Jasmin Beygo, Tiina Kahre, Jair Tenorio-Castano, Laima Ambrozaitytė, Birutė Burnytė, Flavia Cerrato, Justin H. Davies, Giovanni Battista Ferrero, Olga Fjodorova, Africa Manero-Azua, Arrate Pereda, Silvia Russo, Pierpaola Tannorella, Karen I. Temple, Katrin Õunap, Andrea Riccio, Guiomar Perez de Nanclares, Eamonn R. Maher, Pablo Lapunzina, Irène Netchine, Thomas Eggermann, Jet Bliek, Zeynep Tümer

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ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1Research in context by Charlotte Carton, D. Gareth Evans, Ignacio Blanco, Reinhard E. Friedrich, Rosalie E. Ferner, Said Farschtschi, Hector Salvador, Amedeo A. Azizi, Victor Mautner, Claas Röhl, Sirkku Peltonen, Stavros Stivaros, Eric Legius, Rianne Oostenbrink, Joan Brunet, Frank Van Calenbergh, Catherine Cassiman, Thomas Czech, María José Gavarrete de León, Henk Giele, Susie Henley, Conxi Lazaro, Vera Lipkovskaya, Eamonn R. Maher, Vanessa Martin, Irene Mathijssen, Enrico Opocher, Ana Elisabete Pires, Thomas Pletschko, Eirene Poupaki, Vita Ridola, Andre Rietman, Thorsten Rosenbaum, Alastair Santhouse, Astrid Sehested, Ian Simmons, Walter Taal, Anja Wagner

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Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia by Karin Tuschl, Esther Meyer, Leonardo E. Valdivia, Ningning Zhao, Chris Dadswell, Alaa Abdul-Sada, Christina Y. Hung, Michael A. Simpson, W. K. Chong, Thomas S. Jacques, Randy L. Woltjer, Simon Eaton, Allison Gregory, Lynn Sanford, Eleanna Kara, Henry Houlden, Stephan M. Cuno, Holger Prokisch, Lorella Valletta, Valeria Tiranti, Rasha Younis, Eamonn R. Maher, John Spencer, Ania Straatman-Iwanowska, Paul Gissen, Laila A. M. Selim, Guillem Pintos-Morell, Wifredo Coroleu-Lletget, Shekeeb S. Mohammad, Sangeetha Yoganathan, Russell C. Dale, Maya Thomas, Jason Rihel, Olaf A. Bodamer, Caroline A. Enns, Susan J. Hayflick, Peter T. Clayton, Philippa B. Mills, Manju A. Kurian, Stephen W. Wilson

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