Zobrazeno 1 - 10
of 46
pro vyhledávání: '"Matthias Haimel"'
Autor:
Leo Kager, Raúl Jimenez‐Heredia, Petra Zeitlhofer, Wolfgang Novak, Sebastian K. Eder, Anna Segarra‐Roca, Alexandra Frohne, Karin Nebral, Matthias Haimel, René Geyeregger, Katharina Roetzer‐Londgin, Oskar A. Haas, Kaan Boztug
Publikováno v:
HemaSphere, Vol 8, Iss 1, Pp n/a-n/a (2024)
Externí odkaz:
https://doaj.org/article/1389b30af5c249f6b082f2f8426229cf
Autor:
Willem Maassen, Geertje Legger, Ovgu Kul Cinar, Paul van Daele, Marco Gattorno, Brigitte Bader-Meunier, Carine Wouters, Tracy Briggs, Lennart Johansson, Joeri van der Velde, Morris Swertz, Ebun Omoyinmi, Esther Hoppenreijs, Alexandre Belot, Despina Eleftheriou, Roberta Caorsi, Florence Aeschlimann, Guilaine Boursier, Paul Brogan, Matthias Haimel, Marielle van Gijn
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
IntroductionAccurate and standardized phenotypic descriptions are essential in diagnosing rare diseases and discovering new diseases, and the Human Phenotype Ontology (HPO) system was developed to provide a rich collection of hierarchical phenotypic
Externí odkaz:
https://doaj.org/article/76942faa247e4c1ba731534148725544
Autor:
Daniel Danis, Julius O. B. Jacobsen, Parithi Balachandran, Qihui Zhu, Feyza Yilmaz, Justin Reese, Matthias Haimel, Gholson J. Lyon, Ingo Helbig, Christopher J. Mungall, Christine R. Beck, Charles Lee, Damian Smedley, Peter N. Robinson
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-13 (2022)
Abstract Structural variants (SVs) are implicated in the etiology of Mendelian diseases but have been systematically underascertained owing to sequencing technology limitations. Long-read sequencing enables comprehensive detection of SVs, but approac
Externí odkaz:
https://doaj.org/article/fe605196548d4f368b64f3d69399235e
Autor:
Stefan Gräf, Matthias Haimel, Marta Bleda, Charaka Hadinnapola, Laura Southgate, Wei Li, Joshua Hodgson, Bin Liu, Richard M. Salmon, Mark Southwood, Rajiv D. Machado, Jennifer M. Martin, Carmen M. Treacy, Katherine Yates, Louise C. Daugherty, Olga Shamardina, Deborah Whitehorn, Simon Holden, Micheala Aldred, Harm J. Bogaard, Colin Church, Gerry Coghlan, Robin Condliffe, Paul A. Corris, Cesare Danesino, Mélanie Eyries, Henning Gall, Stefano Ghio, Hossein-Ardeschir Ghofrani, J. Simon R. Gibbs, Barbara Girerd, Arjan C. Houweling, Luke Howard, Marc Humbert, David G. Kiely, Gabor Kovacs, Robert V. MacKenzie Ross, Shahin Moledina, David Montani, Michael Newnham, Andrea Olschewski, Horst Olschewski, Andrew J. Peacock, Joanna Pepke-Zaba, Inga Prokopenko, Christopher J. Rhodes, Laura Scelsi, Werner Seeger, Florent Soubrier, Dan F. Stein, Jay Suntharalingam, Emilia M. Swietlik, Mark R. Toshner, David A. van Heel, Anton Vonk Noordegraaf, Quinten Waisfisz, John Wharton, Stephen J. Wort, Willem H. Ouwehand, Nicole Soranzo, Allan Lawrie, Paul D. Upton, Martin R. Wilkins, Richard C. Trembath, Nicholas W. Morrell
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-16 (2018)
Pulmonary arterial hypertension (PAH) is a rare lung disorder characterised by narrowing and obliteration of small pulmonary arteries ultimately leading to right heart failure. Here, the authors sequence whole genomes of over 1000 PAH patients and id
Externí odkaz:
https://doaj.org/article/cb3171b4e79940aa9ab812b5a9ce621a
Autor:
Romina Petersen, John J. Lambourne, Biola M. Javierre, Luigi Grassi, Roman Kreuzhuber, Dace Ruklisa, Isabel M. Rosa, Ana R. Tomé, Heather Elding, Johanna P. van Geffen, Tao Jiang, Samantha Farrow, Jonathan Cairns, Abeer M. Al-Subaie, Sofie Ashford, Antony Attwood, Joana Batista, Heleen Bouman, Frances Burden, Fizzah A. Choudry, Laura Clarke, Paul Flicek, Stephen F. Garner, Matthias Haimel, Carly Kempster, Vasileios Ladopoulos, An-Sofie Lenaerts, Paulina M. Materek, Harriet McKinney, Stuart Meacham, Daniel Mead, Magdolna Nagy, Christopher J. Penkett, Augusto Rendon, Denis Seyres, Benjamin Sun, Salih Tuna, Marie-Elise van der Weide, Steven W. Wingett, Joost H. Martens, Oliver Stegle, Sylvia Richardson, Ludovic Vallier, David J. Roberts, Kathleen Freson, Lorenz Wernisch, Hendrik G. Stunnenberg, John Danesh, Peter Fraser, Nicole Soranzo, Adam S. Butterworth, Johan W. Heemskerk, Ernest Turro, Mikhail Spivakov, Willem H. Ouwehand, William J. Astle, Kate Downes, Myrto Kostadima, Mattia Frontini
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-12 (2017)
Numerous genetic variants, including those located in the non-coding regions of the genome, are known to be associated with blood cells traits. Here, Frontini and colleagues investigate their potential regulatory functions using epigenomic data and p
Externí odkaz:
https://doaj.org/article/2c4a1a97d70840748bc7d87203e84d18
Autor:
Lawrence M. Nogee, Emily Griffin, Samo Vesel, William Christopher Golden, Laura Southgate, Yoel Hirsch, Wendy K. Chung, John D. Coulson, Matthias Haimel, Michael A Harris, Josef Ekstein, Rajiv D. Machado, Julie Hoover-Fong, Elizabeth Colglazier, Stefan Gräf, Lewis H. Romer, Carrie L. Welch, Nicholas W. Morrell, Jeffrey R. Fineman, Charaka Hadinnapola, Maruša Debeljak, Marta Bleda
Publikováno v:
Journal of Medical Genetics. 59:906-911
BackgroundThe molecular genetic basis of pulmonary arterial hypertension (PAH) is heterogeneous, with at least 26 genes displaying putative evidence for disease causality. Heterozygous variants in the ATP13A3 gene were recently identified as a new ca
Autor:
Dino Mehic, Matthias Haimel, Stefanie Hofer, Helmuth Haslacher, Alexander Tolios, Cihan Ay, Johanna Gebhart, Judit Rejtö, Willem H. Ouwehand, Kate Downes, Ingrid Pabinger
Publikováno v:
Blood Adv
High levels of tissue factor pathway inhibitor (TFPI), caused by a longer TFPIα half-life after binding to a factor V splice variant and variants in the F5 gene, were recently identified in 2 families with an as-yet-unexplained bleeding tendency. Th
Autor:
Naz Surucu Yilmaz, Sevgi Bilgic Eltan, Basak Kayaoglu, Busranur Geckin, Raul Jimenez Heredia, Asena Pinar Sefer, Ayca Kiykim, Ercan Nain, Nurhan Kasap, Omer Dogru, Ayse Deniz Yucelten, Leyla Cinel, Gulsun Karasu, Akif Yesilipek, Betul Sozeri, Goksu Gokberk Kaya, Ismail Cem Yilmaz, Ilayda Baydemir, Yagmur Aydin, Deniz Cansen Kahraman, Matthias Haimel, Kaan Boztug, Elif Karakoc-Aydiner, Ihsan Gursel, Ahmet Ozen, Safa Baris, Mayda Gursel
Publikováno v:
Journal of Clinical Immunology
NF-κB essential modulator (NEMO, IKK-γ) deficiency is a rare combined immunodeficiency caused by mutations in the IKBKG gene. Conventionally, patients are afflicted with life threatening recurrent microbial infections. Paradoxically, the spectrum o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0095745b96d1882888f55c3230e62614
https://hdl.handle.net/11511/95313
https://hdl.handle.net/11511/95313
Autor:
Alexander Tolios, Johanna Gebhart, Stefanie Hofer, Dino Mehic, Ingrid Pabinger, Kate Downes, Matthias Haimel, Helmuth Haslacher, Cihan Ay
Publikováno v:
Haemophilia : the official journal of the World Federation of Hemophilia. 27(6)
INTRODUCTION A massive increase of soluble thrombomodulin (sTM) due to variants in the thrombomodulin gene (THBD) has recently been identified as a novel bleeding disorder. AIM To investigate sTM levels and underlying genetic variants as a cause for
Autor:
Daniel Danis, Julius O.B. Jacobsen, Parithi Balachandran, Qihui Zhu, Feyza Yilmaz, Justin Reese, Matthias Haimel, Gholson J. Lyon, Ingo Helbig, Christopher J Mungall, Christine Beck, Charles Lee, Damian Smedley, Peter N Robinson
Structural variants (SVs) are implicated in the etiology of Mendelian diseases but have been systematically underascertained owing to limitations of existing technology. Recent technological advances such as long-read sequencing (LRS) enable more com
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0660611f602211a63758086e2642d328
https://doi.org/10.1101/2021.07.14.452267
https://doi.org/10.1101/2021.07.14.452267