Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Marc P, Hitz"'
Autor:
Robert Lesurf, Jeroen Breckpot, Jade Bouwmeester, Nour Hanafi, Anjali Jain, Yijing Liang, Tanya Papaz, Jane Lougheed, Tapas Mondal, Mahmoud Alsalehi, Luis Altamirano-Diaz, Erwin Oechslin, Enrique Audain, Gregor Dombrowsky, Alex V. Postma, Odilia I. Woudstra, Berto J. Bouma, Marc-Phillip Hitz, Connie R. Bezzina, Gillian M. Blue, David S. Winlaw, Seema Mital
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-24 (2024)
Abstract Background Congenital heart disease (CHD) is the most common congenital anomaly. Almost 90% of isolated cases have an unexplained genetic etiology after clinical testing. Non-canonical splice variants that disrupt mRNA splicing through the l
Externí odkaz:
https://doaj.org/article/1d371c4ddd2340898e94f229a04d496b
Autor:
Jose M. G. Izarzugaza, Sabrina G. Ellesøe, Canan Doganli, Natasja Spring Ehlers, Marlene D. Dalgaard, Enrique Audain, Gregor Dombrowsky, Karina Banasik, Alejandro Sifrim, Anna Wilsdon, Bernard Thienpont, Jeroen Breckpot, Marc Gewillig, Competence Network for Congenital Heart Defects, Germany, J. David Brook, Marc-Phillip Hitz, Lars A. Larsen, Søren Brunak
Publikováno v:
Genome Medicine, Vol 12, Iss 1, Pp 1-13 (2020)
Abstract Background Congenital heart disease (CHD) occurs in almost 1% of newborn children and is considered a multifactorial disorder. CHD may segregate in families due to significant contribution of genetic factors in the disease etiology. The aim
Externí odkaz:
https://doaj.org/article/92a05a17ba10474dab142a5c231868b9
Autor:
Enrique Audain, Anna Wilsdon, Jeroen Breckpot, Jose M G Izarzugaza, Tomas W Fitzgerald, Anne-Karin Kahlert, Alejandro Sifrim, Florian Wünnemann, Yasset Perez-Riverol, Hashim Abdul-Khaliq, Mads Bak, Anne S Bassett, D Woodrow Benson, Felix Berger, Ingo Daehnert, Koenraad Devriendt, Sven Dittrich, Piers Ef Daubeney, Vidu Garg, Karl Hackmann, Kirstin Hoff, Philipp Hofmann, Gregor Dombrowsky, Thomas Pickardt, Ulrike Bauer, Bernard D Keavney, Sabine Klaassen, Hans-Heiner Kramer, Christian R Marshall, Dianna M Milewicz, Scott Lemaire, Joseph S Coselli, Michael E Mitchell, Aoy Tomita-Mitchell, Siddharth K Prakash, Karl Stamm, Alexandre F R Stewart, Candice K Silversides, Reiner Siebert, Brigitte Stiller, Jill A Rosenfeld, Inga Vater, Alex V Postma, Almuth Caliebe, J David Brook, Gregor Andelfinger, Matthew E Hurles, Bernard Thienpont, Lars Allan Larsen, Marc-Phillip Hitz
Publikováno v:
PLoS Genetics, Vol 17, Iss 9, p e1009809 (2021)
[This corrects the article DOI: 10.1371/journal.pgen.1009679.].
Externí odkaz:
https://doaj.org/article/ee3c8898ef0a43729adf837c70afaa5a
Autor:
Enrique Audain, Anna Wilsdon, Jeroen Breckpot, Jose M G Izarzugaza, Tomas W Fitzgerald, Anne-Karin Kahlert, Alejandro Sifrim, Florian Wünnemann, Yasset Perez-Riverol, Hashim Abdul-Khaliq, Mads Bak, Anne S Bassett, D Woodrow Benson, Felix Berger, Ingo Daehnert, Koenraad Devriendt, Sven Dittrich, Piers Ef Daubeney, Vidu Garg, Karl Hackmann, Kirstin Hoff, Philipp Hofmann, Gregor Dombrowsky, Thomas Pickardt, Ulrike Bauer, Bernard D Keavney, Sabine Klaassen, Hans-Heiner Kramer, Christian R Marshall, Dianna M Milewicz, Scott Lemaire, Joseph S Coselli, Michael E Mitchell, Aoy Tomita-Mitchell, Siddharth K Prakash, Karl Stamm, Alexandre F R Stewart, Candice K Silversides, Reiner Siebert, Brigitte Stiller, Jill A Rosenfeld, Inga Vater, Alex V Postma, Almuth Caliebe, J David Brook, Gregor Andelfinger, Matthew E Hurles, Bernard Thienpont, Lars Allan Larsen, Marc-Phillip Hitz
Publikováno v:
PLoS Genetics, Vol 17, Iss 7, p e1009679 (2021)
Numerous genetic studies have established a role for rare genomic variants in Congenital Heart Disease (CHD) at the copy number variation (CNV) and de novo variant (DNV) level. To identify novel haploinsufficient CHD disease genes, we performed an in
Externí odkaz:
https://doaj.org/article/92067f3613e64d39b29f8fdaa8154ba8
Autor:
Christoffer Nellåker, Fowzan S. Alkuraya, Gareth Baynam, Raphael A. Bernier, Francois P.J. Bernier, Vanessa Boulanger, Michael Brudno, Han G. Brunner, Jill Clayton-Smith, Benjamin Cogné, Hugh J.S. Dawkins, Bert B.A. deVries, Sofia Douzgou, Tracy Dudding-Byth, Evan E. Eichler, Michael Ferlaino, Karen Fieggen, Helen V. Firth, David R. FitzPatrick, Dylan Gration, Tudor Groza, Melissa Haendel, Nina Hallowell, Ada Hamosh, Jayne Hehir-Kwa, Marc-Phillip Hitz, Mark Hughes, Usha Kini, Tjitske Kleefstra, R Frank Kooy, Peter Krawitz, Sébastien Küry, Melissa Lees, Gholson J. Lyon, Stanislas Lyonnet, Julien L. Marcadier, Stephen Meyn, Veronika Moslerová, Juan M. Politei, Cathryn C. Poulton, F Lucy Raymond, Margot R.F. Reijnders, Peter N. Robinson, Corrado Romano, Catherine M. Rose, David C.G. Sainsbury, Lyn Schofield, Vernon R. Sutton, Marek Turnovec, Anke Van Dijck, Hilde Van Esch, Andrew O.M. Wilkie, The Minerva Consortium
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
The clinical utility of computational phenotyping for both genetic and rare diseases is increasingly appreciated; however, its true potential is yet to be fully realized. Alongside the growing clinical and research availability of sequencing technolo
Externí odkaz:
https://doaj.org/article/458e4c05c18146f2b21c7405c0d99685
Autor:
Erika Hori, Henrik Fox, Jens Tiesmeier, Dietrich Henzler, Bernd Bachmann-Mennenga, Anna Kostareva, Anna Gaertner, Marc P. Hitz, Heidi Pfeiffer, Sören Homm, Udo Kellner, Gunter Veit, Lech Paluszkiewicz, Hendrik Milting, Steffen Grautoff, Kai Thorsten Laser, Caroline Stanasiuk, Karin Klingel, Thomas Jakob, Jan Gummert
Publikováno v:
Resuscitation. 168:176-185
BACKGROUND Genetics of sudden cardiac deaths (SCD) remains frequently undetected. Genetic analysis is recommended in undefined selected cases in the 2021 ERC-guideline. The emergency medical service and physicians (EMS) may play a pivotal role for un
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a479371573137f9c5b5b44381e8fb4b4
https://doi.org/10.1016/j.resuscitation.2021.07.042
https://doi.org/10.1016/j.resuscitation.2021.07.042
Publikováno v:
F1000Research, Vol 6 (2017)
Congenital heart disease is the most common congenital abnormality, and advances in medical care mean that this population of individuals is surviving for longer than ever before. It represents a significant healthcare challenge, as many patients req
Externí odkaz:
https://doaj.org/article/e95a59d92672459db9ea54c7dbcd0d35
Publikováno v:
PLoS ONE, Vol 12, Iss 12, p e0189875 (2017)
We are moving into the age of 'Big Data' in biomedical research and bioinformatics. This trend could be encapsulated in this simple formula: D = S * F, where the volume of data generated (D) increases in both dimensions: the number of samples (S) and
Externí odkaz:
https://doaj.org/article/cb3c6383c41b4b9eba3b1c1c2d266800
Autor:
Jens, Tiesmeier, Anna, Gaertner, Sören, Homm, Thomas, Jakob, Caroline, Stanasiuk, Bernd, Bachmann-Mennenga, Dietrich, Henzler, Steffen, Grautoff, Gunter, Veit, Erika, Hori, Udo, Kellner, Jan F, Gummert, Marc P, Hitz, Anna, Kostareva, Karin, Klingel, Lech, Paluszkiewicz, Kai Thorsten, Laser, Heidi, Pfeiffer, Henrik, Fox, Hendrik, Milting
Publikováno v:
Resuscitation. 168
Genetics of sudden cardiac deaths (SCD) remains frequently undetected. Genetic analysis is recommended in undefined selected cases in the 2021 ERC-guideline. The emergency medical service and physicians (EMS) may play a pivotal role for unraveling SC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::091aaa167d85f71c035275f5d9d5f492
https://pubmed.ncbi.nlm.nih.gov/34500020
https://pubmed.ncbi.nlm.nih.gov/34500020
Autor:
Marc-Phillip Hitz, Louis-Philippe Lemieux-Perreault, Christian Marshall, Yassamin Feroz-Zada, Robbie Davies, Shi Wei Yang, Anath Christopher Lionel, Guylaine D'Amours, Emmanuelle Lemyre, Rebecca Cullum, Jean-Luc Bigras, Maryse Thibeault, Philippe Chetaille, Alexandre Montpetit, Paul Khairy, Bert Overduin, Sabine Klaassen, Pamela Hoodless, Philip Awadalla, Julie Hussin, Youssef Idaghdour, Mona Nemer, Alexandre F. R. Stewart, Cornelius Boerkoel, Stephen W. Scherer, Andrea Richter, Marie-Pierre Dubé, Gregor Andelfinger
Publikováno v:
PLoS Genetics, Vol 9, Iss 3 (2013)
Externí odkaz:
https://doaj.org/article/5fedba472a7542699aadf367acb12b14