Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

Authors: Alistair T. Pagnamenta, Carme Camps, Edoardo Giacopuzzi, John M. Taylor, Mona Hashim, Eduardo Calpena, Pamela J. Kaisaki, Akiko Hashimoto, Jing Yu, Edward Sanders, Ron Schwessinger, Jim R. Hughes, Gerton Lunter, Helene Dreau, Matteo Ferla, Lukas Lange, Yesim Kesim, Vassilis Ragoussis, Dimitrios V. Vavoulis, Holger Allroggen, Olaf Ansorge, Christian Babbs, Siddharth Banka, Benito Baños-Piñero, David Beeson, Tal Ben-Ami, David L. Bennett, Celeste Bento, Edward Blair, Charlotte Brasch-Andersen, Katherine R. Bull, Holger Cario, Deirdre Cilliers, Valerio Conti, E. Graham Davies, Fatima Dhalla, Beatriz Diez Dacal, Yin Dong, James E. Dunford, Renzo Guerrini, Adrian L. Harris, Jane Hartley, Georg Hollander, Kassim Javaid, Maureen Kane, Deirdre Kelly, Dominic Kelly, Samantha J. L. Knight, Alexandra Y. Kreins, Erika M. Kvikstad, Craig B. Langman, Tracy Lester, Kate E. Lines, Simon R. Lord, Xin Lu, Sahar Mansour, Adnan Manzur, Reza Maroofian, Brian Marsden, Joanne Mason, Simon J. McGowan, Davide Mei, Hana Mlcochova, Yoshiko Murakami, Andrea H. Németh, Steven Okoli, Elizabeth Ormondroyd, Lilian Bomme Ousager, Jacqueline Palace, Smita Y. Patel, Melissa M. Pentony, Chris Pugh, Aboulfazl Rad, Archana Ramesh, Simone G. Riva, Irene Roberts, Noémi Roy, Outi Salminen, Kyleen D. Schilling, Caroline Scott, Arjune Sen, Conrad Smith, Mark Stevenson, Rajesh V. Thakker, Stephen R. F. Twigg, Holm H. Uhlig, Richard van Wijk, Barbara Vona, Steven Wall, Jing Wang, Hugh Watkins, Jaroslav Zak, Anna H. Schuh, Usha Kini, Andrew O. M. Wilkie, Niko Popitsch, Jenny C. Taylor

Source: Genome Medicine, Vol 15, Iss 1, Pp 1-25 (2023)

Subject Terms: Genome sequencing, Rare diseases, Structural variant, Splice site variant, Non-coding, Diagnostic yield, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1756-994X

Access URL: https://doaj.org/article/c9f00f4d0c70402d8c69f3f7e4981fbc

Effect of the addition of a mental health specialist for evaluation of undiagnosed patients in centres for rare diseases (ZSE-DUO): a prospective, controlled trial with a two-phase cohort designResearch in context

Authors: Helge Hebestreit, Anne-Marie Lapstich, Lilly Brandstetter, Christian Krauth, Jürgen Deckert, Kirsten Haas, Lisa Pfister, Stefanie Witt, Christopher Schippers, Jan Dieris-Hirche, Tim Maisch, Oliver Tüscher, Lavinia Bârlescu, Alexandra Berger, Mark Berneburg, Vanessa Britz, Anna Deibele, Holm Graeßner, Harald Gündel, Gereon Heuft, Thomas Lücke, Christine Mundlos, Julia Quitmann, Frank Rutsch, Katharina Schubert, Jörg Bernhard Schulz, Susann Schweiger, Cornelia Zeidler, Lena Zeltner, Martina de Zwaan, Federica Akkaya, Christine Babka, Lisa Bannert, Anja Bärsch-Michelmann, Leonie Böhm, Folke Brinkmann, Monika Bullinger, Holger Cario, Moritz de Greck, Klaus-Michael Debatin, Katrin Dillmann-Jehn, Jutta Eymann, Julia Frisch, Anja Glode, Vega Gödecke, Corinna Grasemann, Eva Grauer, Astrid Haas, Lea Haisch, Isabell, Heinrich, Melissa Held, Julia Hennermann, Stephan Herpertz, Anne Herrmann-Werner, Julian Hett, Peter Heuschmann, Bettina Hilbig, Laura Holthöfer, Christiane Imhof, Florian Junne, Jan Kassubek, Kevin-Thomas Koschitzki, Heike Krassort, Birgit Kropff, Julia Kuhn, Philipp Latzko, Thomas Loew, Albert C. Ludolph, Torsten Meyer, Isabell Meyer dos Santos, Klaus Mohnike, Martina Monninger, Martin Mücke, Susanne Müller, Thomas Musacchio, Margret Nießen, Mariel Nöhre, Stephan Ott, Andrea Petermann-Meyer, Christina Pfeifer-Duck, Lea-Sophie Piduhn, Carina Rampp, Olaf Rieß, Kristina Schaubert, Annika Schmidt, Simone Schneider, Ludger Schoels, Martina Schwalba, Udo Selig, Alexandra Sroka, Toni Steinbüchel, Sebastian Stösser, Steffi Suchant, Kathrin Ungethüm, Matthias Vogel, Daniela Volk, Christoph Vollmuth, Solange Volnov, Thomas O.F. Wagner, Sabrina Walter, Bodo Warrings, Kamil Zajt, Karola Zenker, David Zhang, Stephan Zipfel, Lavinia Aurelia Bârlescu, Julia Hannah Quitmann, Jörg B. Schulz, Lena Margarete Zeltner

Source: EClinicalMedicine, Vol 65, Iss , Pp 102260- (2023)

Subject Terms: Rare diseases, Diagnostic services, Mental health, Patient care team, Medically unexplained symptoms, Medicine (General), R5-920

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2589537023004376; https://doaj.org/toc/2589-5370

Access URL: https://doaj.org/article/7104fbd316dd40be90da99c4bb8c26c0

Screening and diagnosis of hemoglobinopathies in Germany: Current state and future perspectives

Authors: Carmen Aramayo-Singelmann, Susan Halimeh, Pia Proske, Abinuja Vignalingarajah, Holger Cario, Morten O. Christensen, Raina Yamamoto, Alexander Röth, Dirk Reinhardt, Hans Christian Reinhardt, Ferras Alashkar

Source: Scientific Reports, Vol 12, Iss 1, Pp 1-9 (2022)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/480ec62d89f545deb4998a9367fae3cc

Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis

Authors: Valéna Karaghiannis, Darko Maric, Céline Garrec, Nada Maaziz, Alexandre Buffet, Loïc Schmitt, Vincent Antunes, Fabrice Airaud, Bernard Aral, Amandine Le Roy, Sébastien Corbineau, Lamisse Mansour-Hendili, Valentine Lesieur, Antoine Rimbert, Fabien Laporte, Marine Delamare, Minke Rab, Stéphane Bézieau, Bruno Cassinat, Frédéric Galacteros, Anne-Paule Gimenez-Roqueplo, Nelly Burnichon, Holger Cario, Richard van Wijk, Celeste Bento, François Girodon, David Hoogewijs, Betty Gardie

Source: Haematologica, Vol 108, Iss 6 (2023)

Subject Terms: Diseases of the blood and blood-forming organs, RC633-647.5

File Description: electronic resource

Relation: https://haematologica.org/article/view/10953; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721

Access URL: https://doaj.org/article/d370565ff3d9457892e7dd6d85e42fcb

Influence of Turkish origin on hematology reference intervals in the German population

Authors: Franz X. Mayr, Alexander Bertram, Holger Cario, Michael C. Frühwald, Hans-Jürgen Groß, Arndt Groening, Stefanie Grützner, Thomas Gscheidmeier, Reinhard Hoffmann, Alexander Krebs, Hans-Georg Ruf, Antje Torge, Joachim Woelfle, Oliver Razum, Manfred Rauh, Markus Metzler, Jakob Zierk

Source: Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/8baf5a74253541128ee6022c0edbc56c

Iron deficiency anemia and thrombosis risk in children—revisiting an old hypothesis

Authors: Hannah Kalff, Holger Cario, Susanne Holzhauer

Source: Frontiers in Pediatrics, Vol 10 (2022)

Subject Terms: anemia, pediatric thrombosis, iron deficiency, cerebral sinus venous thrombosis (CVST), iron deficiency anemia (IDA), Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2022.926925/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/092aa780fa4a4eed9e4eca4cf2def943

Genetic modifiers of fetal hemoglobin affect the course of sickle cell disease in patients treated with hydroxyurea

Authors: Pierre Allard, Nareen Alhaj, Stephan Lobitz, Holger Cario, Andreas Jarisch, Regine Grosse, Lena Oevermann, Dani Hakimeh, Laura Tagliaferri, Elisabeth Kohne, Annette Kopp-Schneider, Andreas E. Kulozik, Joachim B. Kunz

Source: Haematologica, Vol 107, Iss 7 (2021)

Subject Terms: Diseases of the blood and blood-forming organs, RC633-647.5

File Description: electronic resource

Relation: https://haematologica.org/article/view/10440; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721

Access URL: https://doaj.org/article/6917040d732d4b14a269d5e926b9d34b

Quantitative DWI predicts event-free survival in children with neuroblastic tumours: preliminary findings from a retrospective cohort study

Authors: Anna-Lydia Peschmann, Meinrad Beer, Bettina Ammann, Jens Dreyhaupt, Katharina Kneer, Ambros J. Beer, Christian Beltinger, Daniel Steinbach, Holger Cario, Henning Neubauer

Source: European Radiology Experimental, Vol 3, Iss 1, Pp 1-10 (2019)

Subject Terms: Apparent diffusion coefficient, Diffusion magnetic resonance imaging, Ganglioneuroblastoma, Ganglioneuroma, Neuroblastoma, Medical physics. Medical radiology. Nuclear medicine, R895-920

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s41747-019-0087-4; https://doaj.org/toc/2509-9280

Access URL: https://doaj.org/article/9426809a27014eacadb5422b3a2e0e8e

Introduction of Universal Newborn Screening for Sickle Cell Disease in Germany—A Brief Narrative Review

Authors: Stephan Lobitz, Joachim B. Kunz, Holger Cario, Dani Hakimeh, Andrea Jarisch, Andreas E. Kulozik, Lena Oevermann, Regine Grosse

Source: International Journal of Neonatal Screening, Vol 7, Iss 1, p 7 (2021)

Subject Terms: n/a, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.mdpi.com/2409-515X/7/1/7; https://doaj.org/toc/2409-515X

Access URL: https://doaj.org/article/939b37f4f3954d0e804c02ff79a7e51d

Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations

Authors: Carme Camps, Nayia Petousi, Celeste Bento, Holger Cario, Richard R. Copley, Mary Frances McMullin, Richard van Wijk, Peter J. Ratcliffe, Peter A. Robbins, Jenny C. Taylor

Source: Haematologica, Vol 101, Iss 11 (2016)

Subject Terms: Diseases of the blood and blood-forming organs, RC633-647.5

File Description: electronic resource

Relation: https://haematologica.org/article/view/7874; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721

Access URL: https://doaj.org/article/b77919d6ea97452791616dfef1c814cd

Erythrocytosis associated with a novel missense mutation in the BPGM gene

Authors: Nayia Petousi, Richard R. Copley, Terence R.J. Lappin, Sally E. Haggan, Celeste M. Bento, Holger Cario, Melanie J. Percy, The WGS Consortium, Peter J. Ratcliffe, Peter A. Robbins, Mary Frances McMullin, Peter Donnelly, John Bell, David Bentley, Gil McVean, Peter Ratcliffe, Jenny Taylor, Andrew Wilkie, Peter Donelly, John Broxholme, David Buck, Jean-Baptiste Cazier, Richard Cornall, Lorna Gregory, Julian Knight, Gerton Lunter, Ian Tomlinson, Christopher Allan, Moustafa Attar, Angie Green, Sean Humphray, Zoya Kingsbury, Sarah Lamble, Lorne Lonie, Alistair Pagnamenta, Paolo Piazza, Guadelupe Polanco, Amy Trebes, Richard Copley, Simon Fiddy, Russell Grocock, Edouard Hatton, Chris Holmes, Linda Hughes, Peter Humburg, Alexander Kanapin, Stefano Lise, Hilary Martin, Lisa Murray, Davis McCarthy, Andy Rimmer, Natasha Sahgal, Ben Wright, Chris Yau

Source: Haematologica, Vol 99, Iss 10 (2014)

Subject Terms: Diseases of the blood and blood-forming organs, RC633-647.5

File Description: electronic resource

Relation: https://haematologica.org/article/view/7184; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721

Access URL: https://doaj.org/article/1c06d35da4a3404aa3262eec0c9a8dff

Molecular genetic analyses in familial and sporadic congenital primary erythrocytosis

Authors: Susana Rives, Heike L. Pahl, Lourdes Florensa, Beatriz Bellosillo, Andrea Neusuess, Jesus Estella, Klaus-Michael Debatin, Elisabeth Kohne, Klaus Schwarz, Holger Cario

Source: Haematologica, Vol 92, Iss 5 (2007)

Subject Terms: Diseases of the blood and blood-forming organs, RC633-647.5

File Description: electronic resource

Relation: https://haematologica.org/article/view/4440; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721

Access URL: https://doaj.org/article/d2a65cccb2224b0db3a176c66cc0d39f

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