Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis

Autor: Sri V V Deevi, Henric Olsson, Carolina Haefliger, Maria Karlsson, Richard J. Allen, Susan J. Monkley, Louise V. Wain, Toby M. Maher, Daniel Muthas, A. Mackay, Philip L. Molyneaux, Adam Platt, Abhishek Nag, Glenda Lassi, Quanli Wang, Maria G. Belvisi, Dimitrios Vitsios, Lynne Murray, Gisli Jenkins, Sebastian Wasilewski, Kristina Ibáñez, Slavé Petrovski, Johan Mattsson, Simon Young, Ryan S. Dhindsa, Eleanor M. Wigmore

Publikováno v: Communications Biology, Vol 4, Iss 1, Pp 1-8 (2021)
Communications Biology

Idiopathic pulmonary fibrosis (IPF) is a fatal disorder characterised by progressive, destructive lung scarring. Despite substantial progress, the genetic determinants of this disease remain incompletely defined. Using whole genome and whole exome se

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::400e1ca896fef45197cb0cae551425f5
http://hdl.handle.net/10044/1/88314

Spontaneous Coronary Artery Dissection: Insights on Rare Genetic Variation From Genome Sequencing

Autor: Sally L. Dunwoodie, Lucy McGrath-Cadell, Abtehale Al-Hussaini, Slavé Petrovski, Eleni Giannoulatou, Sri V V Deevi, Nabila Bouatia-Naji, Keren J Carss, David Adlam, Tom R. Webb, Ingrid S. Tarr, Diluka Premawardhana, Nilesh J. Samani, Stephen E. Hamby, Alice Wood, Carolina Haefliger, David W.M. Muller, Robert M. Graham, Javier Armisen, Samuel H. Lewis, Deevia Kotecha, Quanli Wang, Anna A Baranowska, Dimitrios Vitsios, Diane Fatkin, S. Hesselson, Siiri E. Iismaa

Publikováno v: Circulation. Genomic and Precision Medicine

Supplemental Digital Content is available in the text.
Background: Spontaneous coronary artery dissection (SCAD) occurs when an epicardial coronary artery is narrowed or occluded by an intramural hematoma. SCAD mainly affects women and is associ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::422aaaa568d38087c43f9aa5c9c57532
https://pubmed.ncbi.nlm.nih.gov/33125268

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome

Autor: Suthesh Sivapalaratnam, Erica De Candia, Janine Collins, Anthony D. Whetton, Nihr BioResource, Rachel Reed, Wadie F. Bahou, Denis Seyres, Daniel Greene, Hanna Shalev, Anne M. Kelly, Sandra Le Quellec, Paolo Gresele, Thierry M Leblanc, Elizabeth Chalmers, Tadbir K. Bariana, Rémi Favier, John Pasi, Albert Sickmann, Kathleen Freson, Sri V V Deevi, Daniel P. Hart, Dave Lee, Ernest Turro, Rutendo Mapeta, Luigi Grassi, John K. Wu, Matthew C Sims, Sara Morais, Mattia Frontini, Barbara Zieger, Diane J. Nugent, Mallika Sekhar, Louisa Mayer, Loredana Bury, Man-Chiu Poon, Soo J. Park, William J. Astle, Frances Burden, Paquita Nurden, Jonathan Stephens, Cécile Lavenu-Bombled, Andreas Greinacher, Rachael Da Silva, Marie-Françoise Hurtaud, Jose A. Guerrero, Robert Campbell Tait, Sofia Papadia, Eva Leinoe, Antonio Rodriguez-Romera, Karyn Megy, Wendy N. Erber, Gian Marco Podda, Ron Kerr, Willem H. Ouwehand, Laxmikanth Kollipara, Marie-Christine Alessi, Keith Gomez, Harriet McKinney, Taco W. Kuijpers, Alan D. Michelson, Kate Downes, Samantha Farrow, Orna Steinberg-Shemer

Gray platelet syndrome (GPS) is a rare recessive disorder caused by variants in NBEAL2 and characterized by bleeding symptoms, the absence of platelet ɑ-granules, splenomegaly and bone marrow (BM) fibrosis. Due to its rarity, it has been difficult t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a3fdca8a8631fc6967e91555bbfde14
https://doi.org/10.1101/2020.03.23.20041467

Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants

Autor: Daniel Duarte, Mariana Bonduel, Sri V V Deevi, Kathleen Stirrups, Paolo Gresele, David Allsup, Rutendo Mapeta, Jonathan Stephens, Tadbir K. Bariana, Kathleen Freson, Nihr BioResource, Ernest Turro, Kim Elliott, Nicola Curry, David Keeling, D. J. Perry, Kate Downes, Carolyn M. Millar, Luigi Grassi, Keith Gomez, Nora Butta, Ilenia Simeoni, Emanuela Falcinelli, Peter William Collins, Michele P. Lambert, Christopher J. Penkett, Loredana Bury, John K. Wu, Nick Gleadall, Karina Althaus, Daniel Greene, Bruce Furie, Willem H. Ouwehand, Rachel Linger, Sarah K Westbury, Karyn Megy, Sarah Mangles

Publikováno v: Human Mutation
Bury, L, Megy, K, Stephens, J C, Grassi, L, Greene, D, Gleadall, N, Althaus, K, Allsup, D, Bariana, T, Bonduel, M, Butta, N, Collins, P, Curry, N, Deevi, S V V, Downes, K, Duarte, D, Elliott, K, Falcinelli, E, Furie, B, Keeling, D, Lambert, M P, Linger, R, Mangles, S, Mapeta, R, Millar, C M, Penkett, C J, Perry, D J, Stirrups, K, Turro, E, Westbury, S K, Wu, J, Gomez, K, Freson, K, Ouwehand, W H & Gresele, P & Simeoni, I 2019, ' Next-generation sequencing for the diagnosis of MYH9-RD : predicting pathogenic variants ', Human Mutation . https://doi.org/10.1002/humu.23927
Bury, L, Megy, K, Stephens, J C, Grassi, L, Greene, D, Gleadall, N, Althaus, K, Allsup, D, Bariana, T K, Bonduel, M, Butta, N V, Collins, P, Curry, N, Deevi, S V V, Downes, K, Duarte, D, Elliott, K, Falcinelli, E, Furie, B, Keeling, D, Lambert, M P, Linger, R, Mangles, S, Mapeta, R, Millar, C M, Penkett, C, Perry, D J, Stirrups, K E, Turro, E, Westbury, S K, Wu, J, Bioresource, N, Gomez, K, Freson, K, Ouwehand, W H, Gresele, P, Simeoni, I, Williamson, C & Dixon, P 2020, ' Next-generation sequencing for the diagnosis of MYH9 -RD: Predicting pathogenic variants ', Human Mutation, vol. 41, no. 1, pp. 277-290 . https://doi.org/10.1002/humu.23927

The heterogeneous manifestations of MYH9‐related disorder (MYH9‐RD), characterized by macrothrombocytopenia, Döhle‐like inclusion bodies in leukocytes, bleeding of variable severity with, in some cases, ear, eye, kidney, and liver involvement,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b150ff99d83e6e6627c2e3b46c3ed5c
https://lirias.kuleuven.be/handle/123456789/641720

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders

Autor: Minka J A Vries, Alexander Tolios, Johanna Gebhart, Ilenia Simeoni, Will Thomas, Stefanie Hofer, Matthias Haimel, Sofia Papadia, Keith Gomez, Daniel Greene, Rutendo Mapeta, Christopher J. Penkett, Willem H. Ouwehand, Michael Laffan, Kate Downes, Ernest Turro, Suthesh Sivapalaratnam, Louise C. Daugherty, Yvonne M. C. Henskens, Karyn Megy, Nick Gleadall, Howard Martin, Ingrid Pabinger, Martin Besser, Stephen Abbs, Andrew D Mumford, Daniel Duarte, Jonathan Stephens, Shoshana Revel-Vilk, Namir Al Hasso, Salih Tuna, Olga Shamardina, Sri V V Deevi, Chantal Thys, Emily Symington, Kathleen Freson, Nichola Cooper

Publikováno v: Blood, 134(23), 2082-2091. The American Society of Hematology
Downes, K, Megy, K, Duarte, D, Vries, M, Gebhart, J, Hofer, S, Shamardina, O, Deevi, S V V, Stephens, J, Mapeta, R, Tuna, S, Hasso, N A, Besser, M W, Cooper, N, Daugherty, L, Gleadall, N, Greene, D, Haimel, M, Martin, H, Papadia, S, Revel-Vilk, S, Sivapalaratnam, S, Symington, E, Thomas, W, Thys, C, Tolios, A, Penkett, C J, BioResource, N, Ouwehand, W H, Abbs, S, Laffan, M A, Turro, E, Simeoni, I, Mumford, A D, Henskens, Y M C, Pabinger, I, Gomez, K & Freson, K 2019, ' Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders ', Blood, vol. 134, no. 23, pp. 2082-2091 . https://doi.org/10.1182/blood.2018891192

A targeted high-throughput sequencing (HTS) panel test for clinical diagnostics requires careful consideration of the inclusion of appropriate diagnostic-grade genes, the ability to detect multiple types of genomic variation with high levels of analy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a58aaf785cc81caa7d85709245b0cae
https://lirias.kuleuven.be/handle/123456789/637391