J
Jason Pinner
Researcher at Boston Children's Hospital
Publications - 32
Citations - 901
Jason Pinner is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Medicine & Exome sequencing. The author has an hindex of 11, co-authored 24 publications receiving 574 citations. Previous affiliations of Jason Pinner include Royal Prince Alfred Hospital & University of New South Wales.
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Journal ArticleDOI
Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the Australian public health care system
Sebastian Lunke,Stefanie Eggers,Meredith Wilson,Chirag Patel,Christopher P. Barnett,Jason Pinner,Sarah A. Sandaradura,Michael Buckley,Emma I. Krzesinski,Michelle G. de Silva,Gemma R Brett,Kirsten Boggs,David Mowat,Edwin P. Kirk,Edwin P. Kirk,Lesley C. Adès,Lauren S. Akesson,David J. Amor,David J. Amor,Samantha Ayres,Anne Baxendale,Sarah Borrie,Alessandra Bray,Natasha J Brown,Cheng Yee Chan,Cheng Yee Chan,Belinda Chong,Corrina Cliffe,Martin B. Delatycki,Matthew S. Edwards,George Elakis,Michael C Fahey,Andrew Fennell,Lindsay F. Fowles,Lyndon Gallacher,Megan Higgins,Megan Higgins,Katherine B. Howell,Katherine B. Howell,Lauren Hunt,Lauren Hunt,Matthew F. Hunter,Kristi J. Jones,Sarah R. B. King,Smitha Kumble,Sarah Lang,Maelle Le Moing,Alan Ma,Dean Phelan,Michael C.J. Quinn,Anna E. Richards,Christopher M. Richmond,Jessica R. Riseley,Jonathan Rodgers,Rani Sachdev,Simon Sadedin,Luregn J. Schlapbach,Janine Smith,Amanda Springer,Natalie B Tan,Tiong Yang Tan,Suzanna L. Temple,Christiane Theda,Christiane Theda,Anand Vasudevan,Susan M. White,Alison Yeung,Ying Zhu,Melissa Martyn,Stephanie Best,Tony Roscioli,Tony Roscioli,John Christodoulou,Zornitza Stark +73 more
TL;DR: This study suggests feasibility of ultra-rapid genomic testing in critically ill pediatric patients with suspected monogenic conditions in the Australian public health care system, however, further research is needed to understand the clinical value of such testing, and the generalizability of the findings to other health care settings.
Journal ArticleDOI
AP1S3 Mutations Cause Skin Autoinflammation by Disrupting Keratinocyte Autophagy and Up-Regulating IL-36 Production
Satveer K. Mahil,Sophie Twelves,Katalin Farkas,Niovi Setta-Kaffetzi,A. David Burden,Joanna E. Gach,Alan D. Irvine,László Képíró,Maja Mockenhaupt,Hazel H Oon,Jason Pinner,Annamari Ranki,Marieke M B Seyger,Pere Soler-Palacín,Eoin R. Storan,Eugene S. Tan,Laurence Valeyrie-Allanore,Helen S. Young,Richard C. Trembath,Siew Eng Choon,Márta Széll,Zsuzsanna Bata-Csorgo,Catherine H. Smith,Paola Di Meglio,Jonathan Barker,Francesca Capon +25 more
TL;DR: It is shown that keratinocytes play a key role in skin autoinflammation and autophagy modulation of IL-36 signaling as a therapeutic target, and the effects of gene silencing on this pathway are investigated.
Journal ArticleDOI
Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder
Przemyslaw Szafranski,Avinash V. Dharmadhikari,Erwin Brosens,Priyatansh Gurha,Priyatansh Gurha,Katarzyna E. Kolodziejska,Ou Zhishuo,Piotr Dittwald,Piotr Dittwald,Tadeusz Majewski,K. Naga Mohan,K. Naga Mohan,Bo Chen,Richard E. Person,Dick Tibboel,Annelies de Klein,Jason Pinner,Maya Chopra,Girvan Malcolm,Gregory Peters,Susan Arbuckle,Sixto F. Guiang,Virginia A. Hustead,Jose Jessurun,Russel Hirsch,David P. Witte,Isabelle Maystadt,Neil J. Sebire,Richard B. Fisher,Claire Langston,Partha Sen,Pawel Stankiewicz +31 more
TL;DR: It is suggested that lung-transcribed 16q24.1 lncRNAs may contribute to long-range regulation of FOXF1 by GLI2 and other transcription factors and perturbation of lncRNA-mediated chromatin interactions may be responsible for position effect phenomena and potentially cause many disorders of human development.
Journal ArticleDOI
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Emily C. Oates,Emily C. Oates,Emily C. Oates,Kristi J. Jones,Sandra Donkervoort,Amanda Charlton,Susan Brammah,John E. Smith,James S. Ware,Kyle S. Yau,Lindsay C. Swanson,Nicola Whiffin,Anthony Peduto,Anthony Peduto,Adam Bournazos,Leigh B. Waddell,Michelle A. Farrar,Michelle A. Farrar,Hugo Sampaio,Hugo Sampaio,Hooi Ling Teoh,Hooi Ling Teoh,Phillipa J. Lamont,David Mowat,David Mowat,Robin B. Fitzsimons,Alastair Corbett,Monique M. Ryan,Monique M. Ryan,Gina L. O'Grady,Sarah A. Sandaradura,Roula Ghaoui,Himanshu Joshi,Jamie L. Marshall,Jamie L. Marshall,Melinda A. Nolan,Simranpreet Kaur,Jaya Punetha,Jaya Punetha,Ana Töpf,E. Harris,Madhura Bakshi,Casie A. Genetti,M. Marttila,Ulla Werlauff,Nathalie Streichenberger,Alan Pestronk,Ingrid Mazanti,Jason Pinner,Carole Vuillerot,Carla Grosmann,Ana Camacho,Payam Mohassel,M. Leach,A. Reghan Foley,Diana Bharucha-Goebel,Diana Bharucha-Goebel,James J. Collins,Anne M. Connolly,Heather R. Gilbreath,Susan T. Iannaccone,Diana Castro,Beryl B. Cummings,Beryl B. Cummings,Richard Webster,L. Lazaro,John Vissing,Sandra Coppens,Nicolas Deconinck,Ho Ming Luk,Neil H. Thomas,Nicola C. Foulds,Marjorie A. Illingworth,Sian Ellard,Catriona McLean,Rahul Phadke,Gianina Ravenscroft,Nanna Witting,Peter Hackman,Isabelle Richard,Sandra T. Cooper,Erik-Jan Kamsteeg,Eric P. Hoffman,Eric P. Hoffman,Kate Bushby,Volker Straub,Bjarne Udd,Ana Ferreiro,Kathryn N. North,Kathryn N. North,Nigel F. Clarke,Monkol Lek,Monkol Lek,Alan H. Beggs,Carsten G. Bönnemann,Daniel G. MacArthur,Daniel G. MacArthur,Henk Granzier,Mark R. Davis,Nigel G. Laing +99 more
TL;DR: Comprehensive clinical characterization of congenital titinopathy is presented to facilitate diagnosis and management of this important emerging disorder.
Journal ArticleDOI
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins
Przemyslaw Szafranski,Tomasz Gambin,Avinash V. Dharmadhikari,Kadir C. Akdemir,Shalini N. Jhangiani,Jennifer Schuette,Nihal Godiwala,Svetlana A. Yatsenko,Jessica Sebastian,Suneeta Madan-Khetarpal,Urvashi Surti,Rosanna G. Abellar,David A. Bateman,Ashley Wilson,Melinda H. Markham,Jill Slamon,Fernando Santos-Simarro,María Palomares,Julián Nevado,Pablo Lapunzina,Brian H.Y. Chung,Wai Lap Wong,Yoyo W. Y. Chu,Gary Tsz Kin Mok,Eitan Kerem,Joel Reiter,Namasivayam Ambalavanan,Scott A. Anderson,David R. Kelly,Joseph T. Shieh,Taryn C. Rosenthal,Kristin Scheible,Laurie A. Steiner,M. Anwar Iqbal,Margaret L. McKinnon,Sara Jane Hamilton,Kamilla Schlade-Bartusiak,Dawn English,Glenda Hendson,Elizabeth Roeder,Thomas S. DeNapoli,Rebecca O. Littlejohn,Daynna J. Wolff,Carol L. Wagner,Alison Yeung,David Francis,Elizabeth K. Fiorino,Morris Edelman,Joyce E. Fox,Denise A. Hayes,Sandra Janssens,Elfride De Baere,Björn Menten,Anne Loccufier,Lieve Vanwalleghem,Philippe Moerman,Yves Sznajer,Amy S. Lay,Jennifer Kussmann,Jasneek Chawla,Jasneek Chawla,Diane J. Payton,Gael E. Phillips,Erwin Brosens,Dick Tibboel,Annelies de Klein,Isabelle Maystadt,Richard Fisher,Neil J. Sebire,Alison Male,Maya Chopra,Jason Pinner,Girvan Malcolm,Gregory Peters,Susan Arbuckle,Melissa Lees,Zoe Mead,Oliver Quarrell,Richard Sayers,Martina Owens,Charles Shaw-Smith,Janet Lioy,Eileen McKay,Nicole de Leeuw,Ilse Feenstra,Liesbeth Spruijt,Frances Elmslie,Timothy Thiruchelvam,Carlos A. Bacino,Claire Langston,James R. Lupski,Partha Sen,Edwina J. Popek,Pawel Stankiewicz +93 more
TL;DR: It is demonstrated that genomic imprinting at 16q24.1 plays an important role in variable ACDMPV manifestation likely through long-range regulation of FOXF1 expression, and may be also responsible for key phenotypic features of maternal uniparental disomy 16.