Genetically unresolved case of Rauch-Steindl syndrome diagnosed by its wolf-hirschhorn associated DNA methylation episignature

por McConkey, Haley, White-Brown, Alexandre, Kerkhof, Jennifer, Dyment, David, Sadikovic, Bekim
Publicado 2022

Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type

por Haghshenas, Sadegheh, Levy, Michael A., Kerkhof, Jennifer, Aref-Eshghi, Erfan, McConkey, Haley, Balci, Tugce, Siu, Victoria Mok, Skinner, Cindy D., Stevenson, Roger E., Sadikovic, Bekim, Schwartz, Charles
Publicado 2021

Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature

por van der Laan, Liselot, Rooney, Kathleen, Haghshenas, Sadegheh, Silva, Ananília, McConkey, Haley, Relator, Raissa, Levy, Michael A., Valenzuela, Irene, Trujillano, Laura, Lasa-Aranzasti, Amaia, Campos, Berta, Castells, Neus, Verberne, Eline A., Maas, Saskia, Alders, Mariëlle, Mannens, Marcel M. A. M., van Haelst, Mieke M., Sadikovic, Bekim, Henneman, Peter
Publicado 2023

Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome

por Foroutan, Aidin, Haghshenas, Sadegheh, Bhai, Pratibha, Levy, Michael A., Kerkhof, Jennifer, McConkey, Haley, Niceta, Marcello, Ciolfi, Andrea, Pedace, Lucia, Miele, Evelina, Genevieve, David, Heide, Solveig, Alders, Mariëlle, Zampino, Giuseppe, Merla, Giuseppe, Fradin, Mélanie, Bieth, Eric, Bonneau, Dominique, Dieterich, Klaus, Fergelot, Patricia, Schaefer, Elise, Faivre, Laurence, Vitobello, Antonio, Maitz, Silvia, Fischetto, Rita, Gervasini, Cristina, Piccione, Maria, van de Laar, Ingrid, Tartaglia, Marco, Sadikovic, Bekim, Lebre, Anne-Sophie
Publicado 2022

Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders

por Sadikovic, Bekim, Levy, Michael A., Kerkhof, Jennifer, Aref-Eshghi, Erfan, Schenkel, Laila, Stuart, Alan, McConkey, Haley, Henneman, Peter, Venema, Andrea, Schwartz, Charles E., Stevenson, Roger E., Skinner, Steven A., DuPont, Barbara R., Fletcher, Robin S., Balci, Tugce B., Siu, Victoria Mok, Granadillo, Jorge L., Masters, Jennefer, Kadour, Mike, Friez, Michael J., van Haelst, Mieke M., Mannens, Marcel M. A. M., Louie, Raymond J., Lee, Jennifer A., Tedder, Matthew L., Alders, Marielle
Publicado 2021

Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders

por Sadikovic, Bekim, Levy, Michael A., Kerkhof, Jennifer, Aref-Eshghi, Erfan, Schenkel, Laila, Stuart, Alan, McConkey, Haley, Henneman, Peter, Venema, Andrea, Schwartz, Charles E., Stevenson, Roger E., Skinner, Steven A., DuPont, Barbara R., Fletcher, Robin S., Balci, Tugce B., Siu, Victoria Mok, Granadillo, Jorge L., Masters, Jennefer, Kadour, Mike, Friez, Michael J., van Haelst, Mieke M., Mannens, Marcel M. A. M., Louie, Raymond J., Lee, Jennifer A., Tedder, Matthew L., Alders, Marielle
Publicado 2021

OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additio...

por Colin, Estelle, Duffourd, Yannis, Tisserant, Emilie, Relator, Raissa, Bruel, Ange-Line, Tran Mau-Them, Frédéric, Denommé-Pichon, Anne-Sophie, Safraou, Hana, Delanne, Julian, Jean-Marçais, Nolwenn, Keren, Boris, Isidor, Bertrand, Vincent, Marie, Mignot, Cyril, Heron, Delphine, Afenjar, Alexandra, Heide, Solveig, Faudet, Anne, Charles, Perrine, Odent, Sylvie, Herenger, Yvan, Sorlin, Arthur, Moutton, Sébastien, Kerkhof, Jennifer, McConkey, Haley, Chevarin, Martin, Poë, Charlotte, Couturier, Victor, Bourgeois, Valentin, Callier, Patrick, Boland, Anne, Olaso, Robert, Philippe, Christophe, Sadikovic, Bekim, Thauvin-Robinet, Christel, Faivre, Laurence, Deleuze, Jean-François, Vitobello, Antonio
Publicado 2022

Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome

por van der Laan, Liselot, Rooney, Kathleen, Alders, Mariëlle, Relator, Raissa, McConkey, Haley, Kerkhof, Jennifer, Levy, Michael A., Lauffer, Peter, Aerden, Mio, Theunis, Miel, Legius, Eric, Tedder, Matthew L., Vissers, Lisenka E. L. M., Koene, Saskia, Ruivenkamp, Claudia, Hoffer, Mariette J. V., Wieczorek, Dagmar, Bramswig, Nuria C., Herget, Theresia, González, Vanesa López, Santos-Simarro, Fernando, Tørring, Pernille M., Denomme-Pichon, Anne-Sophie, Isidor, Bertrand, Keren, Boris, Julia, Sophie, Schaefer, Elise, Francannet, Christine, Maillard, Pierre-Yves, Misra-Isrie, Mala, Van Esch, Hilde, Mannens, Marcel M. A. M., Sadikovic, Bekim, van Haelst, Mieke M., Henneman, Peter
Publicado 2022

The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8

por Dingemans, Alexander J. M., Truijen, Kim M. G., van de Ven, Sam, Bernier, Raphael, Bongers, Ernie M. H. F., Bouman, Arjan, de Graaff – Herder, Laura, Eichler, Evan E., Gerkes, Erica H., De Geus, Christa M., van Hagen, Johanna M., Jansen, Philip R., Kerkhof, Jennifer, Kievit, Anneke J. A., Kleefstra, Tjitske, Maas, Saskia M., de Man, Stella A., McConkey, Haley, Patterson, Wesley G., Dobson, Amy T., Prijoles, Eloise J., Sadikovic, Bekim, Relator, Raissa, Stevenson, Roger E., Stumpel, Connie T. R. M., Heijligers, Malou, Stuurman, Kyra E., Löhner, Katharina, Zeidler, Shimriet, Lee, Jennifer A., Lindy, Amanda, Zou, Fanggeng, Tedder, Matthew L., Vissers, Lisenka E. L. M., de Vries, Bert B. A.
Publicado 2022

Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features

por Ansari, Morad, Faour, Kamli N. W., Shimamura, Akiko, Grimes, Graeme, Kao, Emeline M., Denhoff, Erica R., Blatnik, Ana, Ben-Isvy, Daniel, Wang, Lily, Helm, Benjamin M., Firth, Helen, Breman, Amy M., Bijlsma, Emilia K., Iwata-Otsubo, Aiko, de Ravel, Thomy J.L., Fusaro, Vincent, Fryer, Alan, Nykamp, Keith, Stühn, Lara G., Haack, Tobias B., Korenke, G. Christoph, Constantinou, Panayiotis, Bujakowska, Kinga M., Low, Karen J., Place, Emily, Humberson, Jennifer, Napier, Melanie P., Hoffman, Jessica, Juusola, Jane, Deardorff, Matthew A., Shao, Wanqing, Rockowitz, Shira, Krantz, Ian, Kaur, Maninder, Raible, Sarah, Kliesch, Sabine, Singer-Berk, Moriel, Groopman, Emily, DiTroia, Stephanie, Ballal, Sonia, Srivastava, Siddharth, Rothfelder, Kathrin, Biskup, Saskia, Rzasa, Jessica, Kerkhof, Jennifer, McConkey, Haley, O’Donnell-Luria, Anne, Sadikovic, Bekim, Hilton, Sarah, Banka, Siddharth, Tüttelmann, Frank, Conrad, Donald, Talkowski, Michael E., FitzPatrick, David R., Boone, Philip M.
Publicado 2023

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

por Bogaert, Elke, Garde, Aurore, Gautier, Thierry, Rooney, Kathleen, Duffourd, Yannis, LeBlanc, Pontus, van Reempts, Emma, Tran Mau-Them, Frederic, Wentzensen, Ingrid M., Au, Kit Sing, Richardson, Kate, Northrup, Hope, Gatinois, Vincent, Geneviève, David, Louie, Raymond J., Lyons, Michael J., Laulund, Lone Walentin, Brasch-Andersen, Charlotte, Maxel Juul, Trine, El It, Fatima, Marle, Nathalie, Callier, Patrick, Relator, Raissa, Haghshenas, Sadegheh, McConkey, Haley, Kerkhof, Jennifer, Cesario, Claudia, Novelli, Antonio, Brunetti-Pierri, Nicola, Pinelli, Michele, Pennamen, Perrine, Naudion, Sophie, Legendre, Marine, Courdier, Cécile, Trimouille, Aurelien, Fenzy, Martine Doco, Pais, Lynn, Yeung, Alison, Nugent, Kimberly, Roeder, Elizabeth R., Mitani, Tadahiro, Posey, Jennifer E., Calame, Daniel, Yonath, Hagith, Rosenfeld, Jill A., Musante, Luciana, Faletra, Flavio, Montanari, Francesca, Sartor, Giovanna, Vancini, Alessandra, Seri, Marco, Besmond, Claude, Poirier, Karine, Hubert, Laurence, Hemelsoet, Dimitri, Munnich, Arnold, Lupski, James R., Philippe, Christophe, Thauvin-Robinet, Christel, Faivre, Laurence, Sadikovic, Bekim, Govin, Jérôme, Dermaut, Bart, Vitobello, Antonio
Publicado 2023

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

por Thomas, Quentin, Motta, Marialetizia, Gautier, Thierry, Zaki, Maha S., Ciolfi, Andrea, Paccaud, Julien, Girodon, François, Boespflug-Tanguy, Odile, Besnard, Thomas, Kerkhof, Jennifer, McConkey, Haley, Masson, Aymeric, Denommé-Pichon, Anne-Sophie, Cogné, Benjamin, Trochu, Eva, Vignard, Virginie, El It, Fatima, Rodan, Lance H., Alkhateeb, Mohammad Ayman, Jamra, Rami Abou, Duplomb, Laurence, Tisserant, Emilie, Duffourd, Yannis, Bruel, Ange-Line, Jackson, Adam, Banka, Siddharth, McEntagart, Meriel, Saggar, Anand, Gleeson, Joseph G., Sievert, David, Bae, Hyunwoo, Lee, Beom Hee, Kwon, Kisang, Seo, Go Hun, Lee, Hane, Saeed, Anjum, Anjum, Nadeem, Cheema, Huma, Alawbathani, Salem, Khan, Imran, Pinto-Basto, Jorge, Teoh, Joyce, Wong, Jasmine, Sahari, Umar Bin Mohamad, Houlden, Henry, Zhelcheska, Kristina, Pannetier, Melanie, Awad, Mona A., Lesieur-Sebellin, Marion, Barcia, Giulia, Amiel, Jeanne, Delanne, Julian, Philippe, Christophe, Faivre, Laurence, Odent, Sylvie, Bertoli-Avella, Aida, Thauvin, Christel, Sadikovic, Bekim, Reversade, Bruno, Maroofian, Reza, Govin, Jérôme, Tartaglia, Marco, Vitobello, Antonio
Publicado 2022

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

por van Jaarsveld, Richard H., Reilly, Jack, Cornips, Marie-Claire, Hadders, Michael A., Agolini, Emanuele, Ahimaz, Priyanka, Anyane-Yeboa, Kwame, Audebert Bellanger, Severine, van Binsbergen, Ellen, van den Boogaard, Marie-Jose, Brischoux-Boucher, Elise, Caylor, Raymond C., Ciolfi, Andrea, van Essen, Ton A.J., Fontana, Paolo, Hopman, Saskia, Iascone, Maria, Javier, Margaret M., Kamsteeg, Erik-Jan, Kerkhof, Jennifer, Kido, Jun, Kim, Hyung-Goo, Kleefstra, Tjitske, Lonardo, Fortunato, Lai, Abbe, Lev, Dorit, Levy, Michael A., Lewis, M.E. Suzanne, Lichty, Angie, Mannens, Marcel M.A.M., Matsumoto, Naomichi, Maya, Idit, McConkey, Haley, Megarbane, Andre, Michaud, Vincent, Miele, Evelina, Niceta, Marcello, Novelli, Antonio, Onesimo, Roberta, Pfundt, Rolph, Popp, Bernt, Prijoles, Eloise, Relator, Raissa, Redon, Sylvia, Rots, Dmitrijs, Rouault, Karen, Saida, Ken, Schieving, Jolanda, Tartaglia, Marco, Tenconi, Romano, Uguen, Kevin, Verbeek, Nienke, Walsh, Christopher A., Yosovich, Keren, Yuskaitis, Christopher J., Zampino, Giuseppe, Sadikovic, Bekim, Alders, Mariëlle, Oegema, Renske
Publicado 2022

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

por 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
Publicado 2021

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

por Weerts, Marjolein J. A., Lanko, Kristina, Guzmán-Vega, Francisco J., Jackson, Adam, Ramakrishnan, Reshmi, Cardona-Londoño, Kelly J., Peña-Guerra, Karla A., van Bever, Yolande, van Paassen, Barbara W., Kievit, Anneke, van Slegtenhorst, Marjon, Allen, Nicholas M., Kehoe, Caroline M., Robinson, Hannah K., Pang, Lewis, Banu, Selina H., Zaman, Mashaya, Efthymiou, Stephanie, Houlden, Henry, Järvelä, Irma, Lauronen, Leena, Määttä, Tuomo, Schrauwen, Isabelle, Leal, Suzanne M., Ruivenkamp, Claudia A. L., Barge-Schaapveld, Daniela Q.C.M., Peeters-Scholte, Cacha M. P. C. D., Galehdari, Hamid, Mazaheri, Neda, Sisodiya, Sanjay M., Harrison, Victoria, Sun, Angela, Thies, Jenny, Pedroza, Luis Alberto, Lara-Taranchenko, Yana, Chinn, Ivan K., Lupski, James R., Garza-Flores, Alexandra, McGlothlin, Jeffery, Yang, Lin, Huang, Shaoping, Wang, Xiaodong, Jewett, Tamison, Rosso, Gretchen, Lin, Xi, Mohammed, Shehla, Merritt, J. Lawrence, Mirzaa, Ghayda M., Timms, Andrew E., Scheck, Joshua, Elting, Mariet W., Polstra, Abeltje M., Schenck, Lauren, Ruzhnikov, Maura R. Z., Vetro, Annalisa, Montomoli, Martino, Guerrini, Renzo, Koboldt, Daniel C., Mosher, Theresa Mihalic, Pastore, Matthew T., McBride, Kim L., Peng, Jing, Pan, Zou, Willemsen, Marjolein, Koning, Susanne, Turnpenny, Peter D., de Vries, Bert B. A., Gilissen, Christian, Pfundt, Rolph, Lees, Melissa, Braddock, Stephen R., Klemp, Kara C., Vansenne, Fleur, van Gijn, Marielle E., Quindipan, Catherine, Deardorff, Matthew A., Hamm, J. Austin, Putnam, Abbey M., Baud, Rebecca, Walsh, Laurence, Lynch, Sally A., Baptista, Julia, Person, Richard E., Monaghan, Kristin G., Crunk, Amy, Keller-Ramey, Jennifer, Reich, Adi, Elloumi, Houda Zghal, Alders, Marielle, Kerkhof, Jennifer, McConkey, Haley, Haghshenas, Sadegheh, Maroofian, Reza, Sadikovic, Bekim, Banka, Siddharth, Arold, Stefan T., Barakat, Tahsin Stefan
Publicado 2021