Szynkiewicz Marcin - Manchester Acad Hlth Sci Ctr, Univ Manchester

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论文共 12 篇作者统计合作学者相似作者

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Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

Yanick J Crow,Diana S Chase,Johanna Lowenstein Schmidt,Marcin Szynkiewicz,Gabriella M A Forte,Hannah L Gornall,Anthony Oojageer,Beverley Anderson,Amy Pizzino,Guy Helman,Mohamed S Abdel-Hamid,Ghada M Abdel-Salam,Sam Ackroyd,Alec Aeby,Guillermo Agosta, Catherine Albin,Stavit Allon-Shalev, Montse Arellano,Giada Ariaudo,Vijay Aswani,Riyana Babul-Hirji,Eileen M Baildam,Nadia Bahi-Buisson,Kathryn M Bailey,Christine Barnerias,Magalie Barth,Roberta Battini,Michael W Beresford,Geneviève Bernard,Marika Bianchi,Thierry Billette de Villemeur,Edward M Blair,Miriam Bloom,Alberto B Burlina, Maria Luisa Carpanelli,Daniel R Carvalho,Manuel Castro-Gago,Anna Cavallini,Cristina Cereda,Kate E Chandler,David A Chitayat,Abigail E Collins, Concepcion Sierra Corcoles,Nuno J V Cordeiro,Giovanni Crichiutti,Lyvia Dabydeen,Russell C Dale,Stefano D'Arrigo,Christian G E L De Goede,Corinne De Laet,Liesbeth M H De Waele,Ines Denzler,Isabelle Desguerre,Koenraad Devriendt,Maja Di Rocco,Michael C Fahey,Elisa Fazzi,Colin D Ferrie, António Figueiredo,Blanca Gener,Cyril Goizet, Nirmala R Gowrinathan,Kalpana Gowrishankar,Donncha Hanrahan,Bertrand Isidor,Bülent Kara,Nasaim Khan,Mary D King,Edwin P Kirk,Ram Kumar, Lieven Lagae,Pierre Landrieu,Heinz Lauffer,Vincent Laugel,Roberta La Piana,Ming J Lim,Jean-Pierre S-M Lin,Tarja Linnankivi,Mark T Mackay,Daphna R Marom,Charles Marques Lourenço,Shane A McKee,Isabella Moroni,Jenny E V Morton,Marie-Laure Moutard,Kevin Murray,Rima Nabbout,Sheela Nampoothiri,Noemi Nunez-Enamorado,Patrick J Oades,Ivana Olivieri,John R Ostergaard,Belén Pérez-Dueñas,Julie S Prendiville,Venkateswaran Ramesh,Magnhild Rasmussen,Luc Régal,Federica Ricci,Marlène Rio,Diana Rodriguez,Agathe Roubertie,Elisabetta Salvatici, Karin A Segers, Gyanranjan P Sinha,Doriette Soler,Ronen Spiegel,Tommy I Stödberg,Rachel Straussberg,Kathryn J Swoboda,Mohnish Suri,Uta Tacke,Tiong Y Tan,Johann te Water Naude,Keng Wee Teik, Maya Mary Thomas,Marianne Till,Davide Tonduti,Enza Maria Valente, Rudy Noel Van Coster,Marjo S van der Knaap,Grace Vassallo,Raymon Vijzelaar,Julie Vogt,Geoffrey B Wallace,Evangeline Wassmer, Hannah J Webb,William P Whitehouse,Robyn N Whitney,Maha S Zaki,Sameer M Zuberi,John H Livingston,Flore Rozenberg,Pierre Lebon,Adeline Vanderver,Simona Orcesi,Gillian I Rice

American journal of medical genetics Part Ano. 2 (2015): 296-312

引用445浏览0WOS引用

445

A Type I Interferon Signature Identifies Bilateral Striatal Necrosis Due to Mutations in ADAR1

John H. Livingston,Jean-Pierre Lin,Russell C. Dale,Deepak Gill,Paul Brogan,Arnold Munnich,Manju A. Kurian,Victoria Gonzalez-Martinez,Christian G. E. L. De Goede,Alastair Falconer,Gabriella Forte,Emma M. Jenkinson,Paul R. Kasher,Marcin Szynkiewicz,Gillian I. Rice,Yanick J. Crow

Journal of medical genetics（2013）

引用116浏览0WOS引用

116

Assessment of Interferon-Related Biomarkers in Aicardi-Goutières Syndrome Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a Case-Control Study

Gillian I Rice,Gabriella M A Forte,Marcin Szynkiewicz,Diana S Chase,Alec Aeby,Mohamed S Abdel-Hamid,Sam Ackroyd,Rebecca Allcock,Kathryn M Bailey,Umberto Balottin,Christine Barnerias,Genevieve Bernard,Christine Bodemer,Maria P Botella,Cristina Cereda,Kate E Chandler,Lyvia Dabydeen,Russell C Dale,Corinne De Laet,Christian G E L De Goede,Mireia Del Toro,Laila Effat, Noemi Nunez Enamorado,Elisa Fazzi,Blanca Gener,Madli Haldre,Jean-Pierre S-M Lin,John H Livingston,Charles Marques Lourenco,Wilson Marques,Patrick Oades,Pärt Peterson,Magnhild Rasmussen,Agathe Roubertie,Johanna Loewenstein Schmidt,Stavit A Shalev, Rogelio Simon,Ronen Spiegel,Kathryn J Swoboda,Samia A Temtamy,Grace Vassallo,Catheline N Vilain,Julie Vogt,Vanessa Wermenbol,William P Whitehouse,Doriette Soler,Ivana Olivieri,Simona Orcesi,Mona S Aglan,Maha S Zaki,Ghada M H Abdel-Salam,Adeline Vanderver,Kai Kisand,Flore Rozenberg,Pierre Lebon,Yanick J Crow

The Lancet Neurologyno. 12 (2013): 1159-69

引用339浏览0WOS引用

339

Mutations in CTC1 , encoding conserved telomere maintenance component 1, cause Coats plus

Beverley H Anderson,Paul R Kasher,Josephine Mayer,Marcin Szynkiewicz,Emma M Jenkinson,Sanjeev S Bhaskar,Jill E Urquhart,Sarah B Daly,Jonathan E Dickerson,James O'Sullivan,Elisabeth Oppliger Leibundgut,Joanne Muter,Ghada M H Abdel-Salem,Riyana Babul-Hirji,Peter Baxter,Andrea Berger,Luisa Bonafé, Janice E Brunstom-Hernandez,Johannes A Buckard,David Chitayat,Wui K Chong,Duccio M Cordelli,Patrick Ferreira,Joel Fluss,Ewan H Forrest,Emilio Franzoni,Caterina Garone,Simon R Hammans,Gunnar Houge,Imelda Hughes,Sebastien Jacquemont,Pierre-Yves Jeannet,Rosalind J Jefferson,Ram Kumar,Georg Kutschke,Staffan Lundberg,Charles M Lourenço, Ramesh Mehta,Sakkubai Naidu,Ken K Nischal,Luís Nunes,Katrin Õunap,Michel Philippart,Prab Prabhakar, Sarah R Risen,Raphael Schiffmann,Calvin Soh,John B P Stephenson,Helen Stewart,Jon Stone,John L Tolmie,Marjo S van der Knaap,Jose P Vieira,Catheline N Vilain,Emma L Wakeling,Vanessa Wermenbol,Andrea Whitney,Simon C Lovell,Stefan Meyer,John H Livingston,Gabriela M Baerlocher,Graeme C M Black,Gillian I Rice,Yanick J Crow

NATURE GENETICS（2012）

引用234浏览0WOSNATURE引用

234

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

Gillian I Rice,Paul R Kasher,Gabriella M A Forte,Niamh M Mannion, Sam M Greenwood,Marcin Szynkiewicz,Jonathan E Dickerson,Sanjeev S Bhaskar, Massimiliano Zampini,Tracy A Briggs,Emma M Jenkinson,Carlos A Bacino,Roberta Battini,Enrico Bertini,Paul A Brogan,Louise A Brueton,Marialuisa Carpanelli,Corinne De Laet,Pascale de Lonlay,Mireia del Toro,Isabelle Desguerre,Elisa Fazzi, Àngels Garcia-Cazorla,Arvid Heiberg,Masakazu Kawaguchi,Ram Kumar,Jean-Pierre S-M Lin,Charles M Lourenco,Alison M Male,Wilson Marques Jr,Cyril Mignot,Ivana Olivieri,Simona Orcesi,Prab Prabhakar,Magnhild Rasmussen,Robert A Robinson,Flore Rozenberg,Johanna L Schmidt,Katharina Steindl,Tiong Y Tan, William G van der Merwe,Adeline Vanderver,Grace Vassallo,Emma L Wakeling,Evangeline Wassmer,Elizabeth Whittaker,John H Livingston,Pierre Lebon,Tamio Suzuki,Paul J McLaughlin,Liam P Keegan,Mary A O'Connell,Simon C Lovell,Yanick J Crow

NATURE GENETICS（2012）

引用670浏览0WOSNATURE引用

670

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

NATURE GENETICS（2011）

引用222浏览0WOSNATURE引用

222

Autosomal Dominant Inheritance of a Heterozygous Mutation in SAMHD1 Causing Familial Chilblain Lupus

Jane C. Ravenscroft,Mohnish Suri,Gillian I. Rice,Marcin Szynkiewicz,Yanick J. Crow

AMERICAN JOURNAL OF MEDICAL GENETICS PART A（2011）

引用105浏览0引用

105

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