المؤلفون: Christy W. LaFlamme, Cassandra Rastin, Soham Sengupta, Helen E. Pennington, Sophie J. Russ-Hall, Amy L. Schneider, Emily S. Bonkowski, Edith P. Almanza Fuerte, Talia J. Allan, Miranda Perez-Galey Zalusky, Joy Goffena, Sophia B. Gibson, Denis M. Nyaga, Nico Lieffering, Malavika Hebbar, Emily V. Walker, Daniel Darnell, Scott R. Olsen, Pandurang Kolekar, Mohamed Nadhir Djekidel, Wojciech Rosikiewicz, Haley McConkey, Jennifer Kerkhof, Michael A. Levy, Raissa Relator, Dorit Lev, Tally Lerman-Sagie, Kristen L. Park, Marielle Alders, Gerarda Cappuccio, Nicolas Chatron, Leigh Demain, David Genevieve, Gaetan Lesca, Tony Roscioli, Damien Sanlaville, Matthew L. Tedder, Sachin Gupta, Elizabeth A. Jones, Monika Weisz-Hubshman, Shamika Ketkar, Hongzheng Dai, Kim C. Worley, Jill A. Rosenfeld, Hsiao-Tuan Chao, Undiagnosed Diseases Network, Geoffrey Neale, Gemma L. Carvill, University of Washington Center for Rare Disease Research, Zhaoming Wang, Samuel F. Berkovic, Lynette G. Sadleir, Danny E. Miller, Ingrid E. Scheffer, Bekim Sadikovic, Heather C. Mefford

المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-21 (2024)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/56ab879163324f04934308a670c8a49d

المؤلفون: Alexander J. M. Dingemans, Kim M. G. Truijen, Sam van de Ven, Raphael Bernier, Ernie M. H. F. Bongers, Arjan Bouman, Laura de Graaff – Herder, Evan E. Eichler, Erica H. Gerkes, Christa M. De Geus, Johanna M. van Hagen, Philip R. Jansen, Jennifer Kerkhof, Anneke J. A. Kievit, Tjitske Kleefstra, Saskia M. Maas, Stella A. de Man, Haley McConkey, Wesley G. Patterson, Amy T. Dobson, Eloise J. Prijoles, Bekim Sadikovic, Raissa Relator, Roger E. Stevenson, Connie T. R. M. Stumpel, Malou Heijligers, Kyra E. Stuurman, Katharina Löhner, Shimriet Zeidler, Jennifer A. Lee, Amanda Lindy, Fanggeng Zou, Matthew L. Tedder, Lisenka E. L. M. Vissers, Bert B. A. de Vries

المصدر: Translational Psychiatry, Vol 12, Iss 1, Pp 1-11 (2022)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2158-3188

URL الوصول: https://doaj.org/article/7ea31eb997db422aa3beb7b35aae7a11

المؤلفون: 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

المصدر: HGG Advances, Vol 3, Iss 1, Pp 100075- (2022)

مصطلحات موضوعية: Episignatures, Neurodevelopmental disorders, DNA methylation, Epigenetics, Clinical diagnostics, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247721000567; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/625f01b427784d528fd75cff511b4125

المؤلفون: Liselot van der Laan, Kathleen Rooney, Mariëlle Alders, Raissa Relator, Haley McConkey, Jennifer Kerkhof, Michael A. Levy, Peter Lauffer, Mio Aerden, Miel Theunis, Eric Legius, Matthew L. Tedder, Lisenka E. L. M. Vissers, Saskia Koene, Claudia Ruivenkamp, Mariette J. V. Hoffer, Dagmar Wieczorek, Nuria C. Bramswig, Theresia Herget, Vanesa López González, Fernando Santos-Simarro, Pernille M. Tørring, Anne-Sophie Denomme-Pichon, Bertrand Isidor, Boris Keren, Sophie Julia, Elise Schaefer, Christine Francannet, Pierre-Yves Maillard, Mala Misra-Isrie, Hilde Van Esch, Marcel M. A. M. Mannens, Bekim Sadikovic, Mieke M. van Haelst, Peter Henneman

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 22; Pages: 13664

مصطلحات موضوعية: TRIP12, Clark–Baraitser syndrome, intellectual disability, DNA methylation, episignature

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Biology; https://dx.doi.org/10.3390/ijms232213664

الاتاحة: https://doi.org/10.3390/ijms232213664

المؤلفون: Kathleen Rooney, Michael A. Levy, Sadegheh Haghshenas, Jennifer Kerkhof, Daniela Rogaia, Maria Giovanna Tedesco, Valentina Imperatore, Amedea Mencarelli, Gabriella Maria Squeo, Eleonora Di Venere, Giuseppe Di Cara, Alberto Verrotti, Giuseppe Merla, Matthew L. Tedder, Barbara R. DuPont, Bekim Sadikovic, Paolo Prontera

المصدر: International Journal of Molecular Sciences; Volume 22; Issue 16; Pages: 8611

مصطلحات موضوعية: 22q11.2 deletion, DNA methylation, episignature, diagnostic method, DiGeorge syndrome, Velocardiofacial syndrome, Conotruncalanomaly face syndrome

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms22168611

الاتاحة: https://doi.org/10.3390/ijms22168611

المؤلفون: Jiyong Wang, Aidin Foroutan, Ellen Richardson, Steven A. Skinner, Jack Reilly, Jennifer Kerkhof, Cynthia J. Curry, Patrick S. Tarpey, Stephen P. Robertson, Isabelle Maystadt, Boris Keren, Joanne W. Dixon, Cindy Skinner, Rachel Stapleton, Lyse Ruaud, Evren Gumus, Phillis Lakeman, Mariëlle Alders, Matthew L. Tedder, Charles E. Schwartz, Michael J. Friez, Bekim Sadikovic, Roger E. Stevenson

المساهمون: Clinical Genetics, ACS - Pulmonary hypertension & thrombosis, Amsterdam Reproduction & Development, Human genetics, Amsterdam Reproduction & Development (AR&D), Human Genetics

المصدر: Wang, J, Foroutan, A, Richardson, E, Skinner, S A, Reilly, J, Kerkhof, J, Curry, C J, Tarpey, P S, Robertson, S P, Maystadt, I, Keren, B, Dixon, J W, Skinner, C, Stapleton, R, Ruaud, L, Gumus, E, Lakeman, P, Alders, M, Tedder, M L, Schwartz, C E, Friez, M J, Sadikovic, B & Stevenson, R E 2022, ' Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711 ', European Journal of Human Genetics, vol. 30, no. 4, pp. 420-427 . https://doi.org/10.1038/s41431-021-01018-1
European journal of human genetics. Nature Publishing Group
European Journal of Human Genetics, 30(4), 420-427. Nature Publishing Group
Eur J Hum Genet
European journal of human genetics, 30(4), 420-427. Nature Publishing Group

مصطلحات موضوعية: DNA-Binding Proteins, Genes, X-Linked, Intellectual Disability, Genetics, Humans, Female, Autistic Disorder, DNA Methylation, Genetics (clinical), Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a33912da0927c23e3b9a4aee351a59e
https://doi.org/10.1038/s41431-021-01018-1

المؤلفون: Catherine Gooch, Jaclyn Paige Souder, Matthew L. Tedder, Jennifer Kerkhof, Jennifer A. Lee, Raymond J. Louie, Bekim Sadikovic, Robin S. Fletcher, Nathaniel H. Robin

المصدر: Am J Med Genet A

مصطلحات موضوعية: Genetics, Article, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1bf46b13998c04bc57351eff6c4a824
https://doi.org/10.1002/ajmg.a.62652

المؤلفون: Sadegheh Haghshenas, Aidin Foroutan, Pratibha Bhai, Michael A. Levy, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Cindy D. Skinner, Raymond C. Caylor, Matthew L. Tedder, Roger E. Stevenson, Bekim Sadikovic, Charles E. Schwartz

المصدر: European Journal of Human Genetics.

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a6b5080ea8d17ef002a8d85e873fc6ad
https://doi.org/10.1038/s41431-023-01313-z

المؤلفون: Jet Coenen-van der Spek, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Michael A. Levy, Matthew L. Tedder, Raymond J. Louie, Robin S. Fletcher, Hannah W. Moore, Anna Childers, Ellyn R. Farrelly, Neena L. Champaigne, Michael J. Lyons, David B. Everman, R. Curtis Rogers, Steven A. Skinner, Alicia Renck, Dena R. Matalon, Shelley K. Dills, Berrin Monteleone, Serwet Demirdas, Alexander J.M. Dingemans, Laura Donker Kaat, Sharon M. Kolk, Rolph Pfundt, Patrick Rump, Bekim Sadikovic, Tjitske Kleefstra, Kameryn M. Butler

المساهمون: Clinical Genetics

المصدر: Genetics in Medicine, 25, 1, pp. 63-75
Genetics in Medicine, 25(1), 63-75. Lippincott Williams & Wilkins
Genetics in Medicine, 25, 63-75
Genetics in Medicine, 25(1), 63-75. Nature Publishing Group

مصطلحات موضوعية: DNA methylation, All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Witteveen-Kolk syndrome, Epigenetics, WITKOS, Genetics (clinical), SIN3A, Molecular Neurobiology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81eebd5981e9df333897e90646b216f2
https://repository.ubn.ru.nl/handle/2066/290129

المؤلفون: Michael A. Levy, Raissa Relator, Haley McConkey, Erinija Pranckeviciene, 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, Marco Ferilli, Robin S. Fletcher, Florian Cherick, 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 R. Pallares, Maria Piccione, Astrid S. Plomp, Cathryn Poulton, Jack Reilly, Rocio Rius, Stephen Robertson, Kathleen Rooney, Justine Rousseau, Gijs W. E. Santen, Fernando Santos‐Simarro, Josephine Schijns, Gabriella M. 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 B. 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, Dominique Campion, John Christodoulou, David Dyment, Natacha Esber, Jill A. Fahrner, Mark D. Fleming, David Genevieve, Delphine Heron, Thomas Husson, Kristin D. Kernohan, Alisdair McNeill, Leonie A. Menke, Giuseppe Merla, Paolo Prontera, Cheryl Rockman‐Greenberg, Charles Schwartz, Steven A. Skinner, Roger E. Stevenson, Marie Vincent, Antonio Vitobello, Marco Tartaglia, Marielle Alders, Matthew L. Tedder, Bekim Sadikovic

المساهمون: Human genetics, Amsterdam Reproduction & Development (AR&D), Pediatrics, Levy M.A., Relator R., McConkey H., Pranckeviciene E., Kerkhof J., Barat-Houari M., Bargiacchi S., Biamino E., Palomares Bralo M., Cappuccio G., Ciolfi A., Clarke A., DuPont B.R., Elting M.W., Faivre L., Fee T., Ferilli M., Fletcher R.S., Cherick 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., Plomp A.S., Poulton C., Reilly J., Rius R., Robertson S., Rooney K., Rousseau J., Santen G.W.E., Santos-Simarro F., Schijns J., Squeo G.M., John M.S., Thauvin-Robinet C., Traficante G., van der Sluijs P.J., Vergano S.A., Vos N., Walden K.K., Azmanov D., Balci T.B., 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., Campion D., Christodoulou J., Dyment D., Esber N., Fahrner J.A., Fleming M.D., Genevieve D., Heron D., Husson T., Kernohan K.D., McNeill A., Menke L.A., Merla G., Prontera P., Rockman-Greenberg C., Schwartz C., Skinner S.A., Stevenson R.E., Vincent M., Vitobello A., Tartaglia M., Alders M., Tedder M.L., Sadikovic B., Levy, Michael A, Relator, Raissa, Mcconkey, Haley, Pranckeviciene, Erinija, Kerkhof, Jennifer, Barat-Houari, Mouna, Bargiacchi, Sara, Biamino, Elisa, Bralo, María Palomare, Cappuccio, Gerarda, Ciolfi, Andrea, Clarke, Angu, Dupont, Barbara R, Elting, Mariet W, Faivre, Laurence, Fee, Timothy, Ferilli, Marco, Fletcher, Robin S, Cherick, 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, Plomp, Astrid S, Poulton, Cathryn, Reilly, Jack, Rius, Rocio, Robertson, Stephen, Rooney, Kathleen, Rousseau, Justine, Santen, Gijs W E, Santos-Simarro, Fernando, Schijns, Josephine, Squeo, Gabriella Maria, John, Miya St, Thauvin-Robinet, Christel, Traficante, Giovanna, van der Sluijs, Pleuntje J, Vergano, Samantha A, Vos, Niel, Walden, Kellie K, Azmanov, Dimitar, Balci, Tugce B, 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, Campion, Dominique, Christodoulou, John, Dyment, David, Esber, Natacha, Fahrner, Jill A, Fleming, Mark D, Genevieve, David, Heron, Delphine, Husson, Thoma, Kernohan, Kristin D, Mcneill, Alisdair, Menke, Leonie A, Merla, Giuseppe, Prontera, Paolo, Rockman-Greenberg, Cheryl, Schwartz, Charle, Skinner, Steven A, Stevenson, Roger E, Vincent, Marie, Vitobello, Antonio, Tartaglia, Marco, Alders, Marielle, Tedder, Matthew L, Sadikovic, Bekim, Human Genetics, General Paediatrics, Graduate School, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ARD - Amsterdam Reproduction and Development, ANS - Cellular & Molecular Mechanisms, ANS - Complex Trait Genetics, ACS - Pulmonary hypertension & thrombosis

المصدر: Human Mutation, 43(11), 1609-1628. Wiley-Liss Inc.
Human Mutation: Variation, Informatics and Disease, 43(11), 1609-1628. WILEY
Human mutation, 43(11), 1609-1628. Wiley-Liss Inc.
Levy, M A, Relator, R, McConkey, H, Pranckeviciene, E, Kerkhof, J, Barat-Houari, M, Bargiacchi, S, Biamino, E, Palomares Bralo, M, Cappuccio, G, Ciolfi, A, Clarke, A, DuPont, B R, Elting, M W, Faivre, L, Fee, T, Ferilli, M, Fletcher, R S, Cherick, 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, Plomp, A S, Poulton, C, Reilly, J, Rius, R, Robertson, S, Rooney, K, Rousseau, J, Santen, G W E, Santos-Simarro, F, Schijns, J, Squeo, G M, John, M S, Thauvin-Robinet, C, Traficante, G, van der Sluijs, P J, Vergano, S A, Vos, N, Walden, K K, Azmanov, D, Balci, T B, 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, Campion, D, Christodoulou, J, Dyment, D, Esber, N, Fahrner, J A, Fleming, M D, Genevieve, D, Heron, D, Husson, T, Kernohan, K D, McNeill, A, Menke, L A, Merla, G, Prontera, P, Rockman-Greenberg, C, Schwartz, C, Skinner, S A, Stevenson, R E, Vincent, M, Vitobello, A, Tartaglia, M, Alders, M, Tedder, M L & Sadikovic, B 2022, ' Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders ', Human Mutation, vol. 43, no. 11, pp. 1609-1628 . https://doi.org/10.1002/humu.24446

مصطلحات موضوعية: DNA methylation, clinical diagnostics, Syndrome, DNA methylation, clinical diagnostics, episignatures, neurodevelopmental syndromes, neurodevelopmental syndromes, Epigenesis, Genetic, Neurodevelopmental Disorders, Genetics, Humans, CpG Islands, DNA, Intergenic, episignatures, Episignature, Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aaa933745b4435f831f0ab98620d9364
https://research.vumc.nl/en/publications/13d0dd51-76a9-4868-ac6b-44bb728ad6bf

المؤلفون: Liselot, van der Laan, Kathleen, Rooney, Mariëlle, Alders, Raissa, Relator, Haley, McConkey, Jennifer, Kerkhof, Michael A, Levy, Peter, Lauffer, Mio, Aerden, Miel, Theunis, Eric, Legius, Matthew L, Tedder, Lisenka E L M, Vissers, Saskia, Koene, Claudia, Ruivenkamp, Mariette J V, Hoffer, Dagmar, Wieczorek, Nuria C, Bramswig, Theresia, Herget, Vanesa López, González, Fernando, Santos-Simarro, Pernille M, Tørring, Anne-Sophie, Denomme-Pichon, Bertrand, Isidor, Boris, Keren, Sophie, Julia, Elise, Schaefer, Christine, Francannet, Pierre-Yves, Maillard, Mala, Misra-Isrie, Hilde, Van Esch, Marcel M A M, Mannens, Bekim, Sadikovic, Mieke M, van Haelst, Peter, Henneman

المصدر: International journal of molecular sciences. 23(22)

مصطلحات موضوعية: Ubiquitin, Ubiquitin-Protein Ligases, Mental Retardation, X-Linked, Humans, Facies, Carrier Proteins

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::6ef3c0dd9ac614f48600e3821cce0986
https://pubmed.ncbi.nlm.nih.gov/36430143

المؤلفون: Florian Cherik, Jack Reilly, Jennifer Kerkhof, Michael Levy, Haley McConkey, Mouna Barat-Houari, Kameryn M. Butler, Christine Coubes, Jennifer A. Lee, Gwenael Le Guyader, Raymond J. Louie, Wesley G. Patterson, Matthew L. Tedder, Mads Bak, Trine Bjørg Hammer, William Craigen, Florence Démurger, Christèle Dubourg, Mélanie Fradin, Rachel Franciskovich, Eirik Frengen, Jennifer Friedman, Nathalie Ruiz Palares, Maria Iascone, Doriana Misceo, Pauline Monin, Sylvie Odent, Christophe Philippe, Flavien Rouxel, Veronica Saletti, Petter Strømme, Perla Cassayre Thulin, Bekim Sadikovic, David Genevieve

المساهمون: CHU Clermont-Ferrand, University of Western Ontario (UWO), London Health Sciences Center (LHSC), CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), The Greenwood Genetic Center, Centre hospitalier universitaire de Poitiers (CHU Poitiers), Rigshospitalet [Copenhagen], Copenhagen University Hospital, Baylor College of Medicine (BCM), Baylor University, Centre hospitalier Bretagne Atlantique (Morbihan) (CHBA), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), CHU Pontchaillou [Rennes], Centre de référence Maladies Rares CLAD-Ouest [Rennes], Oslo University Hospital [Oslo], University of California [San Diego] (UC San Diego), University of California (UC), Hospital Papa Giovanni XXIII (Hosp P Giovanni XXIII), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Fondazione IRCCS Istituto Neurologico 'Carlo Besta', University of Utah

المصدر: Genetics in Medicine
Genetics in Medicine, 2022, 24 (4), pp.905-914. ⟨10.1016/j.gim.2021.12.003⟩

مصطلحات موضوعية: Male, Gabriele-de Vries syndrome, Genome, Phenotype, Neurodevelopmental Disorders, [SDV]Life Sciences [q-bio], Intellectual Disability, Humans, Epigenetics, Syndrome, DNA Methylation, YY1, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::449925e0daab22c9733a387c5f263f32
https://pubmed.ncbi.nlm.nih.gov/35027293

المؤلفون: Gabriella Maria Squeo, Eleonora Di Venere, Paolo Prontera, Matthew L. Tedder, Sadegheh Haghshenas, Kathleen Rooney, Giuseppe Merla, Daniela Rogaia, Amedea Mencarelli, Jennifer Kerkhof, Michael A. Levy, Bekim Sadikovic, Alberto Verrotti, Maria Giovanna Tedesco, Valentina Imperatore, Giuseppe Di Cara, Barbara R. DuPont

المساهمون: Rooney, K., Levy, M. A., Haghshenas, S., Kerkhof, J., Rogaia, D., Tedesco, M. G., Imperatore, V., Mencarelli, A., Squeo, G. M., Di Venere, E., Di Cara, G., Verrotti, A., Merla, G., Tedder, M. L., Dupont, B. R., Sadikovic, B., Prontera, P.

المصدر: Paediatrics Publications
International Journal of Molecular Sciences
Volume 22
Issue 16
International Journal of Molecular Sciences, Vol 22, Iss 8611, p 8611 (2021)

مصطلحات موضوعية: Male, 22q11.2 deletion, Velocardiofacial syndrome, QH301-705.5, Biology, Article, Catalysis, Inorganic Chemistry, Epigenome, DiGeorge syndrome, Intellectual disability, diagnostic method, medicine, Humans, Biology (General), Physical and Theoretical Chemistry, Episignature, QD1-999, Molecular Biology, Transcription factor, Gene, Spectroscopy, Conotruncalanomaly face syndrome, Genetics, DNA methylation, Organic Chemistry, Infant, General Medicine, Methylation, medicine.disease, Phenotype, Computer Science Applications, Chromatin, episignature, Chemistry, Female, Diagnostic method, Human

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfe0ef59c4c31f9ef8c5535ee7ac4548
https://ir.lib.uwo.ca/paedpub/2029

المؤلفون: Matthew L. Tedder, Barbara R. DuPont, Jennifer A. Lee, Raymond J. Louie, Jennifer Kerkhof, Bekim Sadikovic, Michael J. Friez

المصدر: Cancer Genetics. :10

مصطلحات موضوعية: Cancer Research, Genetics, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::91731ffd65b1680d24b946c5f84bb1e1
https://doi.org/10.1016/j.cancergen.2022.05.033

المؤلفون: Matthew L. Tedder, Dustin Baldridge, Kathleen Sisco, F S Cole, Jorge L. Granadillo, Bekim Sadikovic, Marcia C. Willing, Alexander J. Paul, Daniel J. Wegner, Jennifer A. Wambach

المصدر: Am J Med Genet A
Paediatrics Publications

مصطلحات موضوعية: 0301 basic medicine, Proband, Genetics, CHARGE syndrome, epigenetics, Optic disk, 030105 genetics & heredity, Biology, medicine.disease, DNA sequencing, Article, CHD7, genome sequencing, 03 medical and health sciences, 030104 developmental biology, Gene duplication, medicine, Haploinsufficiency, Exome, exome sequencing, Genetics (clinical), Exome sequencing

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b121b7d329a62e63aa209ea849124a9
https://europepmc.org/articles/PMC8218330/

المؤلفون: Steven A. Skinner, Jennefer Masters, Victoria Mok Siu, Peter Henneman, Jennifer A. Lee, Jorge L. Granadillo, Haley McConkey, Erfan Aref-Eshghi, Mike Kadour, Robin S. Fletcher, Barbara R. DuPont, Alan Stuart, Michael A. Levy, Tugce B. Balci, Michael J. Friez, Bekim Sadikovic, Marielle Alders, Mieke M. van Haelst, Matthew L. Tedder, Roger E. Stevenson, Raymond J. Louie, Charles E. Schwartz, Marcel M.A.M. Mannens, Laila C. Schenkel, Andrea Venema, Jennifer Kerkhof

المساهمون: Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), Human Genetics, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ARD - Amsterdam Reproduction and Development, ACS - Pulmonary hypertension & thrombosis

المصدر: Sadikovic, B, Levi, M A, Kerkhof, J, Aref-Eshghi, E, Schenkel, L, Stuart, A, McConkey, H, Henneman, P, Venema, A, Schwartz, C E, Stevenson, R E, Skinner, S A, DuPont, B R, Fletcher, R S, Balci, T B, Siu, V M, Granadillo, J L, Masters, J, Kadour, M, Friez, M J, van Haelst, M M, Mannens, M M A M, Louie, R J, Lee, J A, Tedder, M L & Alders, M 2021, ' Clinical epigenomics : genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders ', Genetics in Medicine, vol. 23, no. 6, pp. 1065-1074 . https://doi.org/10.1038/s41436-020-01096-4
Genetics in Medicine
Paediatrics Publications
Genetics in Medicine, 23(6), 1065-1074. Lippincott Williams and Wilkins
Genetics in medicine, 23(6), 1065-1074. Lippincott Williams and Wilkins

مصطلحات موضوعية: 0301 basic medicine, Epigenomics, medicine.medical_specialty, Canada, business.industry, MEDLINE, Syndrome, 030105 genetics & heredity, DNA Methylation, Genome, Article, Europe, 03 medical and health sciences, genomic DNA, 030104 developmental biology, Internal medicine, DNA methylation, Cohort, Medicine, Humans, Clinical significance, business, Mendelian disorders, Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7642e4cb481c6146ecedf9aa71c123e
https://pubmed.ncbi.nlm.nih.gov/33637969

المؤلفون: Bekim Sadikovic, Jennifer C. Lee, Kameryn Butler, Wesley Patterson, Raymond J. Louie, Matthew L. Tedder, David Geneviève

المصدر: Molecular Genetics and Metabolism. 132:S254-S255

مصطلحات موضوعية: Genetics, Endocrinology, YY1 Transcription Factor, Endocrinology, Diabetes and Metabolism, DNA Methylation Profile, Biology, Molecular Biology, Biochemistry, YIN-YANG-1, Sequence (medicine)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6ad39fbc5d0a693d655bf6c7abe6054c
https://doi.org/10.1016/s1096-7192(21)00473-x

المؤلفون: Charles E. Schwartz, Peter Henneman, Barbara R. DuPont, Mike Kadour, Bekim Sadikovic, Erfan Aref-Eshghi, Marcel M.A.M. Mannens, Haley McConkey, Victoria Mok Siu, Roger E. Stevenson, Tugce B. Balci, Alan Stuart, Matthew L. Tedder, Jennifer Kerkhof, Laila C. Schenkel, Andrea Venema, Michael J. Friez, Jorge L. Granadillo, Mieke M. van Haelst, Michael A. Levy, Marielle Alders, Jennifer A. Lee, Robin S. Fletcher, Steven A. Skinner, Jennefer Masters, Raymond J. Louie

المصدر: Genetics in Medicine. 23:2228

مصطلحات موضوعية: Published Erratum, DNA methylation, MEDLINE, Mistake, Computational biology, Biology, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Mendelian disorders, Genome, Genetics (clinical), Spelling, Epigenomics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a7ac066202ab6d4088603b374b84aace
https://doi.org/10.1038/s41436-021-01130-z