Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

Autor: Levy, Michael A., McConkey, Haley, Kerkhof, Jennifer, Barat-Houari, Mouna, Bargiacchi, Sara, Biamino, Elisa, Bralo, María Palomares, Cappuccio, Gerarda, Ciolfi, Andrea, Clarke, Angus, DuPont, Barbara R., Elting, Mariet W., Faivre, Laurence, Fee, Timothy, Fletcher, Robin S., Cherik, Florian, Foroutan, Aidin, Friez, Michael J., Gervasini, Cristina, Haghshenas, Sadegheh, Hilton, Benjamin A., Jenkins, Zandra, Kaur, Simranpreet, Lewis, Suzanne, Louie, Raymond J., Maitz, Silvia, Milani, Donatella, Morgan, Angela T., Oegema, Renske, Østergaard, Elsebet, Pallares, Nathalie Ruiz, Piccione, Maria, Pizzi, Simone, Plomp, Astrid S., Poulton, Cathryn, Reilly, Jack, Relator, Raissa, Rius, Rocio, Robertson, Stephen, Rooney, Kathleen, Rousseau, Justine, Santen, Gijs W.E., Santos-Simarro, Fernando, Schijns, Josephine, Squeo, Gabriella Maria, St John, Miya, Thauvin-Robinet, Christel, Traficante, Giovanna, van der Sluijs, Pleuntje J., Vergano, Samantha A., Vos, Niels, Walden, Kellie K., Azmanov, Dimitar, Balci, Tugce, Banka, Siddharth, Gecz, Jozef, Henneman, Peter, Lee, Jennifer A., Mannens, Marcel M.A.M., Roscioli, Tony, Siu, Victoria, Amor, David J., Baynam, Gareth, Bend, Eric G., Boycott, Kym, Brunetti-Pierri, Nicola, Campeau, Philippe M., Christodoulou, John, Dyment, David, Esber, Natacha, Fahrner, Jill A., Fleming, Mark D., Genevieve, David, Kerrnohan, Kristin D., McNeill, Alisdair, Menke, Leonie A., Merla, Giuseppe, Prontera, Paolo, Rockman-Greenberg, Cheryl, Schwartz, Charles, Skinner, Steven A., Stevenson, Roger E., Vitobello, Antonio, Tartaglia, Marco, Alders, Marielle, Tedder, Matthew L., Sadikovic, Bekim

Publikováno v: In Human Genetics and Genomics Advances 13 January 2022 3(1)

Long-term motor and behavioral outcome after perinatal hypoxic-ischemic encephalopathy

Autor: van Schie, Petra E.M., Schijns, Josephine, Becher, Jules G., Barkhof, Frederik, van Weissenbruch, Mirjam M., Vermeulen, R. Jeroen

Publikováno v: In European Journal of Paediatric Neurology May 2015 19(3):354-359

A conservative approach in a child with haematuria after accidental rectal impalement trauma.

Autor: Schijns, Josephine¹ jschijns@tergooi.nl, Plötz, Frans Berend¹

Publikováno v: African Journal of Paediatric Surgery. Jul-Sep2015, Vol. 12 Issue 3, p191-192. 2p.

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

Autor: Michael A. Levy, Haley McConkey, Jennifer Kerkhof, Mouna Barat-Houari, Sara Bargiacchi, Elisa Biamino, María Palomares Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus Clarke, Barbara R. DuPont, Mariet W. Elting, Laurence Faivre, Timothy Fee, Robin S. Fletcher, Florian Cherik, Aidin Foroutan, Michael J. Friez, Cristina Gervasini, Sadegheh Haghshenas, Benjamin A. Hilton, Zandra Jenkins, Simranpreet Kaur, Suzanne Lewis, Raymond J. Louie, Silvia Maitz, Donatella Milani, Angela T. Morgan, Renske Oegema, Elsebet Østergaard, Nathalie Ruiz Pallares, Maria Piccione, Simone Pizzi, Astrid S. Plomp, Cathryn Poulton, Jack Reilly, Raissa Relator, Rocio Rius, Stephen Robertson, Kathleen Rooney, Justine Rousseau, Gijs W.E. Santen, Fernando Santos-Simarro, Josephine Schijns, Gabriella Maria Squeo, Miya St John, Christel Thauvin-Robinet, Giovanna Traficante, Pleuntje J. van der Sluijs, Samantha A. Vergano, Niels Vos, Kellie K. Walden, Dimitar Azmanov, Tugce Balci, Siddharth Banka, Jozef Gecz, Peter Henneman, Jennifer A. Lee, Marcel M.A.M. Mannens, Tony Roscioli, Victoria Siu, David J. Amor, Gareth Baynam, Eric G. Bend, Kym Boycott, Nicola Brunetti-Pierri, Philippe M. Campeau, John Christodoulou, David Dyment, Natacha Esber, Jill A. Fahrner, Mark D. Fleming, David Genevieve, Kristin D. Kerrnohan, Alisdair McNeill, Leonie A. Menke, Giuseppe Merla, Paolo Prontera, Cheryl Rockman-Greenberg, Charles Schwartz, Steven A. Skinner, Roger E. Stevenson, Antonio Vitobello, Marco Tartaglia, Marielle Alders, Matthew L. Tedder, Bekim Sadikovic

Publikováno v: Human Genetics and Genomics Advances, 3(1). Cell Press
Levy, M A, McConkey, H, Kerkhof, J, Barat-Houari, M, Bargiacchi, S, Biamino, E, Cappuccio, G, Ciolfi, A, Clarke, A, DuPont, B R, Elting, M W, Faivre, L, Fee, T, Fletcher, R S, Cherik, F, Foroutan, A, Friez, M J, Gervasini, C, Haghshenas, S, Hilton, B A, Jenkins, Z, Kaur, S, Lewis, S, Louie, R J, Maitz, S, Milani, D, Morgan, A T, Oegema, R, Ostergaard, E, Pallares, N R, Piccione, M, Pizzi, S, Plomp, A S, Poulton, C, Reilly, J, Relator, R, Rius, R, Robertson, S, Rooney, K, Rousseau, J, Santen, G W E, Santos-Simarro, F, Schijns, J, Squeo, G M, St John, M, Thauvin-Robinet, C, Traficante, G, van der Sluijs, P J, Vergano, S A, Vos, N, Walden, K K, Azmanov, D, Balci, T, Banka, S, Gecz, J, Henneman, P, Lee, J A, Mannens, M M A M, Roscioli, T, Siu, V, Amor, D J, Baynam, G, Bend, E G, Boycott, K, Brunetti-Pierri, N, Campeau, P M, Christodoulou, J, Dyment, D, Esber, N, Fahrner, J A, Fleming, M D, Genevieve, D, Kerrnohan, K D, McNeill, A, Menke, L A, Merla, G, Prontera, P, Rockman-Greenberg, C, Schwartz, C, Skinner, S A, Stevenson, R E, Vitobello, A, Tartaglia, M, Alders, M, Tedder, M L & Sadikovic, B 2022, ' Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders ', Human Genetics and Genomics Advances, vol. 3, no. 1, 100075 . https://doi.org/10.1016/j.xhgg.2021.100075
Human Genetics and Genomics Advances
HGG Advances, Vol 3, Iss 1, Pp 100075-(2022)
Levy, M A, McConkey, H, Kerkhof, J, Barat-Houari, M, Bargiacchi, S, Biamino, E, Bralo, M P, Cappuccio, G, Ciolfi, A, Clarke, A, DuPont, B R, Elting, M W, Faivre, L, Fee, T, Fletcher, R S, Cherik, F, Foroutan, A, Friez, M J, Gervasini, C, Haghshenas, S, Hilton, B A, Jenkins, Z, Kaur, S, Lewis, S, Louie, R J, Maitz, S, Milani, D, Morgan, A T, Oegema, R, Østergaard, E, Pallares, N R, Piccione, M, Pizzi, S, Plomp, A S, Poulton, C, Reilly, J, Relator, R, Rius, R, Robertson, S, Rooney, K, Rousseau, J, Santen, G W E, Santos-Simarro, F, Schijns, J, Squeo, G M, St John, M, Thauvin-Robinet, C, Traficante, G, van der Sluijs, P J, Vergano, S A, Vos, N, Walden, K K, Azmanov, D, Balci, T, Banka, S, Gecz, J, Henneman, P, Mannens, M M A M, Roscioli, T, Siu, V, Amor, D J, Baynam, G, Bend, E G, Boycott, K, Brunetti-Pierri, N, Campeau, P M, Christodoulou, J, Dyment, D, Esber, N, Fahrner, J A, Fleming, M D, Genevieve, D, Kerrnohan, K D, McNeill, A, Menke, L A, Merla, G, Prontera, P, Rockman-Greenberg, C, Schwartz, C, Skinner, S A, Stevenson, R E, Vitobello, A, Tartaglia, M, Alders, M, Tedder, M L & Sadikovic, B 2022, ' Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders ', Human Genetics and Genomics Advances, vol. 3, no. 1, pp. 100075 . https://doi.org/10.1016/j.xhgg.2021.100075

Summary: Overlapping clinical phenotypes and an expanding breadth and complexity of genomic associations are a growing challenge in the diagnosis and clinical management of Mendelian disorders. The functional consequences and clinical impacts of geno

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3b763cf5565dccf74150986184b19d2
https://hdl.handle.net/11588/893580

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.

Autor: Levy MA; Verspeeten Clinical Genome Centre; London Health Sciences Centre, London, ON N6A 5W9, Canada., McConkey H; Verspeeten Clinical Genome Centre; London Health Sciences Centre, London, ON N6A 5W9, Canada., Kerkhof J; Verspeeten Clinical Genome Centre; London Health Sciences Centre, London, ON N6A 5W9, Canada., Barat-Houari M; Autoinflammatory and Rare Diseases Unit, Medical Genetic Department for Rare Diseases and Personalized Medicine, CHU Montpellier, Montpellier, France., Bargiacchi S; Medical Genetics Unit, 'A. Meyer' Children's Hospital of Florence, Florence, Italy., Biamino E; Department of Pediatrics, University of Turin, Turin, Italy., Bralo MP; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain., Cappuccio G; Department of Translational Medicine, Federico II University of Naples, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Clarke A; Cardiff University School of Medicine, Cardiff, UK., DuPont BR; Greenwood Genetic Center, Greenwood, SC 29646, USA., Elting MW; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands., Faivre L; INSERM-Université de Bourgogne UMR1231 GAD « Génétique Des Anomalies du Développement », FHU-TRANSLAD, UFR Des Sciences de Santé, Dijon, France.; Centre de Référence Maladies Rares «Anomalies du Développement et Syndromes Malformatifs », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Fee T; Greenwood Genetic Center, Greenwood, SC 29646, USA., Fletcher RS; Greenwood Genetic Center, Greenwood, SC 29646, USA., Cherik F; Genetic medical center, CHU Clermont Ferrand, France.; Montpellier University, Reference Center for Rare Disease, Medical Genetic Department for Rare Disease and Personalize Medicine, Inserm Unit 1183, CHU Montpellier, Montpellier, France., Foroutan A; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada., Friez MJ; Greenwood Genetic Center, Greenwood, SC 29646, USA., Gervasini C; Division of Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy., Haghshenas S; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada., Hilton BA; Greenwood Genetic Center, Greenwood, SC 29646, USA., Jenkins Z; Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Kaur S; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia., Lewis S; BC Children's and Women's Hospital and Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, Canada., Louie RJ; Greenwood Genetic Center, Greenwood, SC 29646, USA., Maitz S; Clinical Pediatric Genetics Unit, Pediatrics Clinics, MBBM Foundation, Hospital San Gerardo, Monza, Italy., Milani D; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Morgan AT; Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia., Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Østergaard E; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Pallares NR; Autoinflammatory and Rare Diseases Unit, Medical Genetic Department for Rare Diseases and Personalized Medicine, CHU Montpellier, Montpellier, France., Piccione M; Medical Genetics Unit Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, Palermo, Italy., Pizzi S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Plomp AS; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands., Poulton C; Undiagnosed Diseases Program, Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia., Reilly J; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada., Relator R; Verspeeten Clinical Genome Centre; London Health Sciences Centre, London, ON N6A 5W9, Canada., Rius R; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia., Robertson S; Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Rooney K; Verspeeten Clinical Genome Centre; London Health Sciences Centre, London, ON N6A 5W9, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada., Rousseau J; CHU Sainte-Justine Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada., Santen GWE; Department of Clinical Genetics, LUMC, Leiden, the Netherlands., Santos-Simarro F; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain., Schijns J; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Squeo GM; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Via S. Pansini 5, 80131 Naples, Italy., St John M; Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia., Thauvin-Robinet C; INSERM-Université de Bourgogne UMR1231 GAD « Génétique Des Anomalies du Développement », FHU-TRANSLAD, UFR Des Sciences de Santé, Dijon, France.; Centre de Référence Maladies Rares «Anomalies du Développement et Syndromes Malformatifs », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Unité Fonctionnelle d'Innovation Diagnostique des Maladies Rares, FHU-TRANSLAD, France Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon Bourgogne, CHU Dijon Bourgogne, Dijon, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital D'Enfants, CHU Dijon Bourgogne, 21000 Dijon, France., Traficante G; Medical Genetics Unit, 'A. Meyer' Children's Hospital of Florence, Florence, Italy., van der Sluijs PJ; Department of Clinical Genetics, LUMC, Leiden, the Netherlands., Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA, USA., Vos N; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Meibergdreef 9, Amsterdam, the Netherlands., Walden KK; Greenwood Genetic Center, Greenwood, SC 29646, USA., Azmanov D; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Perth, Australia., Balci T; Department of Pediatrics, Division of Medical Genetics, Western University, London, ON N6A 3K7, Canada.; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre and Children's Health Research Institute, London, ON N6A5W9, Canada., Banka S; Division of Evolution, Infection & Genomics, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Gecz J; School of Medicine, Robinson Research Institute, University of Adelaide, Adelaide, SA 5005, Australia.; South Australian Health and Medical Research Institute, Adelaide, SA 5005, Australia., Henneman P; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands., Lee JA; Greenwood Genetic Center, Greenwood, SC 29646, USA., Mannens MMAM; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands., Roscioli T; Neuroscience Research Australia (NeuRA), Sydney, Australia.; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, Australia.; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, Australia.; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, Australia., Siu V; Department of Pediatrics, Division of Medical Genetics, Western University, London, ON N6A 3K7, Canada.; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre and Children's Health Research Institute, London, ON N6A5W9, Canada., Amor DJ; Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia., Baynam G; Undiagnosed Diseases Program, Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.; Undiagnosed Diseases Program, Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.; Division of Paediatrics and Telethon Kids Institute, Faculty of Health and Medical Sciences, Perth, Australia., Bend EG; PreventionGenetics, Marshfield, WI, USA., Boycott K; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Brunetti-Pierri N; Department of Translational Medicine, Federico II University of Naples, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Campeau PM; CHU Sainte-Justine Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada., Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia., Dyment D; Children's Hospital of Eastern Ontario, Ottawa, Canada., Esber N; KAT6A Foundation., Fahrner JA; Departments of Genetic Medicine and Pediatrics, Johns Hopkins University, Baltimore, MD 21205, USA., Fleming MD; Department of Pathology, Boston Children's Hospital, Boston, MA, USA., Genevieve D; Montpellier University, Reference Center for Rare Disease, Medical Genetic Department for Rare Disease and Personalize Medicine, Inserm Unit 1183, CHU Montpellier, Montpellier, France., Kerrnohan KD; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Canada., McNeill A; Department of Neuroscience, University of Sheffield, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK., Menke LA; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Merla G; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Via S. Pansini 5, 80131 Naples, Italy.; Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (Foggia), Italy., Prontera P; Medical Genetics Unit, University of Perugia Hospital SM della Misericordia, Perugia, Italy., Rockman-Greenberg C; Department of Pediatrics and Child Health, Rady Faculty of Health Sciences, University of Manitoba and Program in Genetics and Metabolism, Shared Health MB, Winnipeg, MB, Canada., Schwartz C; Greenwood Genetic Center, Greenwood, SC 29646, USA., Skinner SA; Greenwood Genetic Center, Greenwood, SC 29646, USA., Stevenson RE; Greenwood Genetic Center, Greenwood, SC 29646, USA., Vitobello A; INSERM-Université de Bourgogne UMR1231 GAD « Génétique Des Anomalies du Développement », FHU-TRANSLAD, UFR Des Sciences de Santé, Dijon, France.; Unité Fonctionnelle d'Innovation Diagnostique des Maladies Rares, FHU-TRANSLAD, France Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon Bourgogne, CHU Dijon Bourgogne, Dijon, France., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Alders M; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands., Tedder ML; Greenwood Genetic Center, Greenwood, SC 29646, USA., Sadikovic B; Verspeeten Clinical Genome Centre; London Health Sciences Centre, London, ON N6A 5W9, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada.

Publikováno v: HGG advances [HGG Adv] 2021 Dec 03; Vol. 3 (1), pp. 100075. Date of Electronic Publication: 2021 Dec 03 (Print Publication: 2022).