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3. Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis

Author

Ewans, Lisa J., Minoche, Andre E., Schofield, Deborah, Shrestha, Rupendra, Puttick, Clare, Zhu, Ying, Drew, Alexander, Gayevskiy, Velimir, Elakis, George, Walsh, Corrina, Adès, Lesley C., Colley, Alison, Ellaway, Carolyn, Evans, Carey-Anne, Freckmann, Mary-Louise, Goodwin, Linda, Hackett, Anna, Kamien, Benjamin, Kirk, Edwin P., Lipke, Michelle, Mowat, David, Palmer, Elizabeth, Rajagopalan, Sulekha, Ronan, Anne, Sachdev, Rani, Stevenson, William, Turner, Anne, Wilson, Meredith, Worgan, Lisa, Morel-Kopp, Marie-Christine, Field, Michael, Buckley, Michael F., Cowley, Mark J., Dinger, Marcel E., and Roscioli, Tony

Published
2022
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5. Multicentre evaluation of 5B9, a monoclonal anti‐PF4/heparin IgG mimicking human HIT antibodies, as an internal quality control in HIT functional assays: Communication from the ISTH SSC Subcommittee on Platelet Immunology

Author

Pouplard, Claire, Rollin, Jérôme, Vayne, Caroline, Charuel, Noémie, Ahmadi, Zohra, Alberio, Lorenzo, Azjenberg, Nadine, Althaus, Karina, Bakchoul, Tamam, Chong, Beng, Curtis, Brian R., Faille, Dorothée, Gomez, Francisco‐Javier, Gresele, Paolo, Morel‐Kopp, Marie‐Christine, Mullier, François, Nazy, Izhac, Smith, James W., Greinacher, Andreas, and Gruel, Yves

Published
2022
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6. Validation of the ISTH/SSC bleeding assessment tool for inherited platelet disorders: A communication from the Platelet Physiology SSC

Author

Gresele, Paolo, Orsini, Sara, Noris, Patrizia, Falcinelli, Emanuela, Alessi, Marie Christine, Bury, Loredana, Borhany, Munira, Santoro, Cristina, Glembotsky, Ana C., Cid, Ana Rosa, Tosetto, Alberto, De Candia, Erica, Fontana, Pierre, Guglielmini, Giuseppe, Pecci, Alessandro, Heller, Paula G., Rodorigo, Giuseppina, Lammle, Bernhard, Trinchero, Alice, Paolo, Radossi, Ferrari, Silvia, Rancitelli, Davide, Stolinski, Amy, Arulselvan, Abinaya, Lassandro, Giuseppe, Luceros, Analia Sanchez, Jandrot‐Perrus, Martine, Kunishima, Shinji, Rivera Pozo, José, Lordkipanidzé, Marie, Melazzini, Federica, Falaise, Céline, Casonato, Alessandra, Podda, Gianmarco, Kannan, Meganathan, Jurk, Kerstin, Sevivas, Teresa, Castaman, Giancarlo, Grandone, Elvira, Fiore, Mathieu, Zuniga, Pamela, Henskens, Yvonne, Miyazaki, Koji, Dupuis, Arnaud, Hayward, Catherine, Zaninetti, Carlo, Abid, Madiha, Ferrara, Grazia, Mazzucconi, Maria Gabriella, Tagariello, Giuseppe, James, Paula, Fabris, Fabrizio, Russo, Alexandra, Bermejo, Nuria, Napolitano, Mariasanta, Curnow, Jennifer, Vasiliki, Gkalea, Zieger, Barbara, Fedor, Marian, Chitlur, Meera, Lambert, Michele, Barcella, Luca, Cosmi, Benilde, Giordano, Paola, Porri, Claudia, Eker, Ibrahim, Morel‐Kopp, Marie‐Christine, Deckmyn, Hans, Frelinger, Andrew L., III, Harrison, Paul, Mezzano, Diego, and Mumford, Andrew D.

Published
2020
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12. Corrigendum to GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis [J Thromb Haemost. 2021 Oct;19(10):2612-2617]

Author

Megy, Karyn, primary, Downes, Kate, additional, Morel-Kopp, Marie-Christine, additional, Bastida, José M., additional, Brooks, Shannon, additional, Bury, Loredana, additional, Leinoe, Eva, additional, Gomez, Keith, additional, Morgan, Neil V., additional, Othman, Maha, additional, Ouwehand, Willem H., additional, Botero, Juliana Perez, additional, Rivera, José, additional, Schulze, Harald, additional, Trégouët, David-Alexandre, additional, and Freson, Kathleen, additional

Published
2023
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13. Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation

Author

Faleschini, Michela, Papa, Nicole, Morel-Kopp, Marie-Christine, Marconi, Caterina, Giangregorio, Tania, Melazzini, Federica, Bozzi, Valeria, Seri, Marco, Noris, Patrizia, Pecci, Alessandro, Savoia, Anna, Bottega, Roberta, Faleschini, Michela, Papa, Nicole, Morel-Kopp, Marie-Christine, Marconi, Caterina, Giangregorio, Tania, Melazzini, Federica, Bozzi, Valeria, Seri, Marco, Noris, Patrizia, Pecci, Alessandro, Savoia, Anna, and Bottega, Roberta

Subjects
Repressor Proteins, Carcinogenesis, GFI1B, thrombocytopenia, Proto-Oncogene Proteins, Humans, GFI1B, germline mutation, Article, Germ-Line Mutation
Abstract

GFI1B is a transcription factor essential for the regulation of erythropoiesis and megakaryopoiesis, and pathogenic variants have been associated with thrombocytopenia and bleeding. Analysing thrombocytopenic families by whole exome sequencing, we identified a novel GFI1B variant (c.648+5G>A), which causes exon 9 skipping and overexpression of a shorter p32 isoform. We report the clinical data of our patients and critically review the phenotype observed in individuals with different GFI1B variants leading to the same effect on the p32 expression. Since p32 is increased in acute and chronic leukemia cells, we tested the expression level of genes playing a role in various type of cancers, including hematological tumors and found that they are significantly dysregulated, suggesting a potential role for GFI1B in carcinogenesis regulation. Increasing the detection of individuals with GFI1B variants will allow us to better characterize this rare disease and determine whether it is associated with an increased risk of developing malignancies.

Published
2022

16. A pilot study assessing the implementation of 96-well plate-based aggregometry (Optimul) in Australia

Author

Hsu, Hannah, Chan, Melissa V, Armstrong, Paul C, Crescente, Marilena, Donikian, Dea, Kondo, Mayuko, Brighton, Timothy, Chen, Vivien, Chen, Qiang, Connor, David, Joseph, Joanne, Morel-Kopp, Marie-Christine, Stevenson, William S, Ward, Christopher, Warner, Timothy D, Rabbolini, David J, Hsu, Hannah, Chan, Melissa V, Armstrong, Paul C, Crescente, Marilena, Donikian, Dea, Kondo, Mayuko, Brighton, Timothy, Chen, Vivien, Chen, Qiang, Connor, David, Joseph, Joanne, Morel-Kopp, Marie-Christine, Stevenson, William S, Ward, Christopher, Warner, Timothy D, and Rabbolini, David J

Abstract

Identification of disordered platelet function is important to guide peri-operative bleeding management as well as long term treatment and prognostic strategies in individuals with platelet bleeding disorders. Light transmission aggregometry (LTA), the current gold standard diagnostic test of platelet function is a time consuming technique almost exclusively performed in specialised laboratories and almost universally unavailable in regional centres in Australia, where there is an unmet need for access to specialised platelet function diagnostic services. 96-well plate-based aggregometry (Optimul, UK), has been utilised in research laboratories as a novel platform to investigate platelet function. We evaluated the Optimul assay at two centres in Australia, one regional and one tertiary metropolitan, to assess its feasibility as a screening test applicable to remote regional centres. Concentration-response curves were established from 45 healthy volunteers at the participating regional hospital and from 31 healthy volunteers at the tertiary institution. Optimul successfully detected anti-platelet effects in individuals taking aspirin (n=4), NSAID (n=2), clopidogrel (n=2) and dual therapy with aspirin and clopidogrel (n=1). When tested in parallel to LTA in individuals referred for the evaluation of abnormal bleeding symptoms there was overall a very good level of agreement between Optimul and LTA [Cohen's kappa (k2)=0.84], supporting its role as a useful screening tool in the assessment of platelet function. Optimul assay performance was quick and the methodology simple, requiring no specialised training or resources to be implemented at either the regional or metropolitan laboratory. Widespread implementation, particularly in regional laboratories within Australia where specialised platelet function testing is unavailable, has the potential to drastically improve the inequity of access to such services.

Published
2022

18. Association of Global Coagulation Profiles With Cardiovascular Risk Factors and Atherosclerosis: A Sex Disaggregated Analysis From the BioHEART‐CT Study

Author

Kott, Katharine A., primary, Morel‐Kopp, Marie‐Christine, additional, Vernon, Stephen T., additional, Takagi, Yuki, additional, Di Bartolo, Belinda A., additional, Peter, Karlheinz, additional, Yang, Jean Y., additional, Grieve, Stuart M., additional, Ward, Christopher, additional, and Figtree, Gemma A., additional

Published
2021
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19. GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis

Author

Megy, Karyn, primary, Downes, Kate, additional, Morel‐Kopp, Marie‐Christine, additional, Bastida, José M., additional, Brooks, Shannon, additional, Bury, Loredana, additional, Leinoe, Eva, additional, Gomez, Keith, additional, Morgan, Neil V., additional, Othman, Maha, additional, Ouwehand, Willem H., additional, Perez Botero, Juliana, additional, Rivera, José, additional, Schulze, Harald, additional, Trégouët, David‐Alexandre, additional, and Freson, Kathleen, additional

Published
2021
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26. Additional file 1 of Precarious working conditions and psychosocial work stress act as a risk factor for symptoms of postpartum depression during maternity leave: results from a longitudinal cohort study

Author

Karl, Marlene, Schaber, Ronja, Kress, Victoria, Kopp, Marie, Martini, Julia, Weidner, Kerstin, and Garthus-Niegel, Susan

Abstract

Additional file 1. Flowchart Dropout, Flow chart of the DREAM study. Notes: T1 during pregnancy, T2 8 weeks after anticipated birth date. Data collection is not finished yet (recruitment ongoing).

Published
2020
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28. Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation

Author

Faleschini, Michela, primary, Papa, Nicole, additional, Morel-Kopp, Marie-Christine, additional, Marconi, Caterina, additional, Giangregorio, Tania, additional, Melazzini, Federica, additional, Bozzi, Valeria, additional, Seri, Marco, additional, Noris, Patrizia, additional, Pecci, Alessandro, additional, Savoia, Anna, additional, and Bottega, Roberta, additional

Published
2021
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30. Platelet-Reactive Antibodies in Patients after Ischaemic Stroke—An Epiphenomenon or a Natural Protective Mechanism

Author

Park, Young Eun, primary, Penumarthy, Rushi, additional, Sun, Paul P., additional, Kang, Caroline Y., additional, Morel-Kopp, Marie-Christine, additional, Downing, Jonathan, additional, Green, Taryn N., additional, Immanuel, Tracey, additional, Ward, Christopher M., additional, Young, Deborah, additional, During, Matthew J., additional, Barber, P. Alan, additional, and Kalev-Zylinska, Maggie L., additional

Published
2020
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32. The impact of parental role distributions, work participation, and stress factors on family health-related outcomes: Study protocol of the prospective multi-method cohort 'Dresden Study on Parenting, Work, and Mental Health' (DREAM)

Author

Kress, Victoria, Steudte-Schmiedgen, Susann, Kopp, Marie, Förster, Anke, Altus, Caroline, Schier, Caroline, Wimberger, Pauline, Kirschbaum, Clemens, von Soest, Tilmann, Weidner, Kerstin, Junge-Hoffmeister, Juliane, and Garthus-Niegel, Susan

Abstract

The Dresden Study on Parenting, Work, and Mental Health (“DResdner Studie zu Elternschaft, Arbeit, und Mentaler Gesundheit”, DREAM) aims to prospectively investigate the relationship between parental work participation, role distribution, stress factors, and their effects on perinatal outcomes and long-term family mental and somatic health in a community sample targeting N = 4,000 individuals, i.e., 2,000 couples, expecting a child and residing in Dresden, Germany (interim sample of N = 1,410 participants, recruitment ongoing). Various questionnaires are completed at four measurement points from pregnancy to 2 years postpartum (prolongation into middle childhood planned). Applying a multi-method approach, long-term endocrinological data (analyses of hair cortisol concentrations and other endogenous hormones, “DREAMHAIR”) and qualitative interview data (regarding gender role attitudes and distribution of domestic work, child care, and paid employment; “DREAMTALK”) are obtained. In this study protocol, the theoretical background, methods, and preliminary results considering sociodemographic characteristics during pregnancy and birth-related factors at 8 weeks postpartum are presented. Additionally, there is a focus on our endocrinological sub-study DREAMHAIR. In this sub-study currently comprising N = 152 participants, i.e., 88 families (recruitment ongoing), we want to gain knowledge on the transgenerational processes of stress regulation and psychopathology in the whole family by analyzing hair cortisol concentrations in both parents and children during the course from pregnancy (or after birth regarding children) to at least 2 years postpartum. By comparing data of the community sample to a clinical sample of mothers with postpartum mental disorders, their children, and their partners during the period between admission and discharge from a mother-baby unit and post-treatment (“DREAMMBU”), the course of mothers' psychopathology, parent-infant interaction, and infant regulation disorders with special regard to long-term endocrine correlates will be examined. With previous studies neglecting the fathers or partners involved, a major advantage of DREAM is the use of a multi-method and multi-level approach by examining the whole family in a longitudinal design. Therefore, the DREAM study will contribute to a better understanding of the role of social, work, and stress factors for mental and somatic health and its long-term endocrine correlates in the natural course of becoming a family.

Published
2019

33. The clinical heterogeneity of RUNX1 associated familial platelet disorder with predisposition to myeloid malignancy - A case series and review of the literature

Author

Tang, Catherine, Rabbolini, David J., Morel-Kopp, Marie-Christine, Connor, David, Crispin, Philip, Ward, Christopher, Stevenson, William, Tang, Catherine, Rabbolini, David J., Morel-Kopp, Marie-Christine, Connor, David, Crispin, Philip, Ward, Christopher, and Stevenson, William

Abstract

Germline mutations of runt-related transcription factor-1 (RUNX1) cause famil-ial platelet disorder with predisposition to myeloid malignancy (FPDMM), most commonly associated with thrombocytopenia and propensity to develop myeloid neoplasms. A key clinical question is which patients with a family history of thrombo-cytopenia should undergo genetic testing for RUNX1 mutations. Typically, molecular diagnosis by genetic sequencing is performed when the clinical phenotype is sug-gestive of this diagnosis; however, our understanding of the spectrum of associated features suggestive of this diagnosis continues to evolve. Herein, we report a case se-ries of 3 unrelated families with RU N X1-associated FPDMM and clinical phenotypes not typically reported with this condition. These cases expand our understanding of FPDMM and highlight the complexity of transcriptional regulation of hematopoiesis and its potentially diverse phenotypes. We describe our approach to diagnosis and management of these individuals and the importance of long-term surveillance in these cases.

Published
2019

35. Anti-glycoprotein VI mediated immune thrombocytopenia: An under-recognized and significant entity?

Author

Rabbolini, David J., Gardiner, Elizabeth, Morel-Kopp, Marie-Christine, Dunkley, Scott, Jahangiri, Anila, Lee, Christine, Stevenson, William, Ward, Christopher, Rabbolini, David J., Gardiner, Elizabeth, Morel-Kopp, Marie-Christine, Dunkley, Scott, Jahangiri, Anila, Lee, Christine, Stevenson, William, and Ward, Christopher

Abstract

Idiopathic immune thrombocytopenia (ITP) is an autoimmune disorder characterized by relapsing/remitting thrombocytopenia. Bleeding complications are infrequent with platelet counts above 30x10(9)/L, and this level is commonly used as a threshold for treatment. The question of another/co-existent diagnosis or an alternate mechanism of platelet destruction arises when bleeding is experienced with platelet counts above this threshold. We report a case of anti-GPVI mediated ITP that was diagnosed following investigations performed to address this key clinical question. A patient with ITP experienced exaggerated bruising symptoms despite a platelet count of 91x10(9)/L. Platelet functional testing showed an isolated platelet defect of collagen-induced aggregation. Next generation sequencing excluded a pathogenic variant of GP6, and anti-GPVI antibodies that curtailed GPVI function were confirmed by extended platelet phenotyping. We propose that anti-GPVI mediated ITP may be under-recognized, and that inclusion of GPVI in antibody detection assays may improve their diagnostic utility and in turn, facilitate a better understanding of ITP pathophysiology and aid individualized treatment approaches.

Published
2017

42. Reduced T helper and B lymphocytes in Parkinson's disease

Author

Stevens, Claire H, Rowe, Dominic B, Morel-Kopp, Marie Christine, Orr, Carolyn, Russell, Tonia, Ranola, Madelaine, Ward, Christopher, Halliday, Glenda M, Stevens, Claire H, Rowe, Dominic B, Morel-Kopp, Marie Christine, Orr, Carolyn, Russell, Tonia, Ranola, Madelaine, Ward, Christopher, and Halliday, Glenda M

Abstract

Gene association with HLA suggests involvement of immune mediated mechanisms in the pathogenesis of Parkinson's disease (PD). Only a small number of studies have found differences between circulating leukocyte populations in PD patients compared to controls, with conflicting results. To clarify whether there is a circulating leukocyte PD phenotype, we assessed the numbers of T, B and natural killer cells, and monocytes and found a small reduction (15-25%) in CD4 + T and CD19 + B cells in PD. These findings suggest some compromise in immune cells in PD and have potential implications for immune function and the progression of PD.

Published
2012

44. Corrigendum to GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis[J Thromb Haemost. 2021 Oct;19(10):2612-2617]

Author

Megy, Karyn, Downes, Kate, Morel-Kopp, Marie-Christine, Bastida, José M., Brooks, Shannon, Bury, Loredana, Leinoe, Eva, Gomez, Keith, Morgan, Neil V., Othman, Maha, Ouwehand, Willem H., Botero, Juliana Perez, Rivera, José, Schulze, Harald, Trégouët, David-Alexandre, and Freson, Kathleen

Published
2023
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48. Abstract 3715: Inflammatory and Thrombotic Changes in Bereavement: A Potential Mechanism of Increased Cardiovascular Risk

Author

Buckley, Thomas, primary, Morel-Kopp, Marie-Christine, additional, Bartrop, Roger, additional, McKinley, Sharon, additional, Ward, Christopher, additional, Mihailidou, Anastasia S, additional, Goldstone, Kerrie, additional, Bramwell, Margaret, additional, Hocking, Belinda, additional, Roche, Dianne, additional, Spinaze, Monica, additional, Tennant, Christopher, additional, and Tofler, Geoffrey, additional

Published
2007
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