检索结果 - DuPont, Barbara

Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities 由 Griggs, Bradley L, Ladd, Sydney, Saul, Robert A, DuPont, Barbara R, Srivastava, Anand K

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Identification of ectodysplasin-A receptor gene deletion at 2q12.2 and a potential autosomal MR locus 由 Griggs, Bradley L, Ladd, Sydney, Decker, Amy, DuPont, Barbara R, Asamoah, Alexander, Srivastava, Anand K

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Phenotypic Variability in Phelan–McDermid Syndrome and Its Putative Link to Environmental Factors 由 Boccuto, Luigi, Mitz, Andrew, Abenavoli, Ludovico, Sarasua, Sara M., Bennett, William, Rogers, Curtis, DuPont, Barbara, Phelan, Katy

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Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature 由 Dukes-Rimsky, Lynn, Guzauskas, Gregory F., Holden, Kenton R., Griggs, Rachel, Ladd, Sydney, del Carmen Montoya, Maria, DuPont, Barbara R., Srivastava, Anand K.

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Clinical utility of chromosomal microarray analysis in the diagnosis and management of monosomy 7 mosaicism 由 Dwivedi, Alka Chaubey nee, Lyons, Michael J, Kwiatkowski, Kat, Bartel, Frank O, Friez, Michael J, Holden, Kenton R, Fung, Eric T, DuPont, Barbara R

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Importance of genetic testing in global health during the evaluation of familial microcephaly 由 Molinero, Isaac, Broman‐Fulks, Jordan, Lyons, Michael J., Matheus, Maria Gisele, Chaubey, Alka, DuPont, Barbara R., Friez, Michael J., Skinner, Steve A., Holden, Kenton R.

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Copy neutral absence of heterozygosity on chromosome 15 distal long arm: A surrogate marker for Prader–Willi/Angelman syndromes? 由 Ortega, Veronica, Louie, Raymond J., Jones, Melanie A., Chaubey, Alka, DuPont, Barbara R., Britt, Allison, Ray, Joseph, McLean, Scott D., Littlejohn, Rebecca O., Velagaleti, Gopalrao

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Multi‐tissue cytogenetic analysis for the diagnosis of mosaic Down syndrome: A case report 由 Moncada Arita, Wilberg A., Perdomo Domínguez, Eduardo Smelin, Rivera Caballero, Astrid Yohaly, Espinoza‐Moreno, Nelson A., Zavala Galeano, Mauricio E., DuPont, Barbara R., Ramos‐Zaldívar, Héctor M.

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Alterations in CDH15 and KIRREL3 in Patients with Mild to Severe Intellectual Disability 由 Bhalla, Kavita, Luo, Yue, Buchan, Tim, Beachem, Michael A., Guzauskas, Gregory F., Ladd, Sydney, Bratcher, Shelly J., Schroer, Richard J., Balsamo, Janne, DuPont, Barbara R., Lilien, Jack, Srivastava, Anand K.

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17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD) 由 Armour, Christine M, Bulman, Dennis E, Jarinova, Olga, Rogers, Richard Curtis, Clarkson, Kate B, DuPont, Barbara R, Dwivedi, Alka, Bartel, Frank O, McDonell, Laura, Schwartz, Charles E, Boycott, Kym M, Everman, David B, Graham, Gail E

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Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith–Magenis syndrome 由 Vieira, Gustavo H, Rodriguez, Jayson D, Carmona-Mora, Paulina, Cao, Lei, Gamba, Bruno F, Carvalho, Daniel R, de Rezende Duarte, Andréa, Santos, Suely R, de Souza, Deise H, DuPont, Barbara R, Walz, Katherina, Moretti-Ferreira, Danilo, Srivastava, Anand K

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Optical Genome Mapping and Single Nucleotide Polymorphism Microarray: An Integrated Approach for Investigating Products of Conception 由 Sahajpal, Nikhil Shri, Mondal, Ashis K., Ananth, Sudha, Pundkar, Chetan, Jones, Kimya, Williams, Colin, Fee, Timothy, Weissman, Amanda, Tripodi, Giuseppe, Oza, Eesha, Gavrilova-Jordan, Larisa, Omar, Nivin, Hastie, Alex R., DuPont, Barbara R., Layman, Lawrence, Chaubey, Alka, Kolhe, Ravindra

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Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome 由 Rooney, Kathleen, Levy, Michael A., Haghshenas, Sadegheh, Kerkhof, Jennifer, Rogaia, Daniela, Tedesco, Maria Giovanna, Imperatore, Valentina, Mencarelli, Amedea, Squeo, Gabriella Maria, Di Venere, Eleonora, Di Cara, Giuseppe, Verrotti, Alberto, Merla, Giuseppe, Tedder, Matthew L., DuPont, Barbara R., Sadikovic, Bekim, Prontera, Paolo

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KDM5A mutations identified in autism spectrum disorder using forward genetics 由 El Hayek, Lauretta, Tuncay, Islam Oguz, Nijem, Nadine, Russell, Jamie, Ludwig, Sara, Kaur, Kiran, Li, Xiaohong, Anderton, Priscilla, Tang, Miao, Gerard, Amanda, Heinze, Anja, Zacher, Pia, Alsaif, Hessa S, Rad, Aboulfazl, Hassanpour, Kazem, Abbaszadegan, Mohammad Reza, Washington, Camerun, DuPont, Barbara R, Louie, Raymond J, Couse, Madeline, Faden, Maha, Rogers, R Curtis, Abou Jamra, Rami, Elias, Ellen R, Maroofian, Reza, Houlden, Henry, Lehman, Anna, Beutler, Bruce, Chahrour, Maria H

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

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

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Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders 由 Aref-Eshghi, Erfan, Kerkhof, Jennifer, Pedro, Victor P., Barat-Houari, Mouna, Ruiz-Pallares, Nathalie, Andrau, Jean-Christophe, Lacombe, Didier, Van-Gils, Julien, Fergelot, Patricia, Dubourg, Christèle, Cormier-Daire, Valerie, Rondeau, Sophie, Lecoquierre, François, Saugier-Veber, Pascale, Nicolas, Gaël, Lesca, Gaetan, Chatron, Nicolas, Sanlaville, Damien, Vitobello, Antonio, Faivre, Laurence, Thauvin-Robinet, Christel, Laumonnier, Frederic, Raynaud, Martine, Alders, Mariëlle, Mannens, Marcel, Henneman, Peter, Hennekam, Raoul C., Velasco, Guillaume, Francastel, Claire, Ulveling, Damien, Ciolfi, Andrea, Pizzi, Simone, Tartaglia, Marco, Heide, Solveig, Héron, Delphine, Mignot, Cyril, Keren, Boris, Whalen, Sandra, Afenjar, Alexandra, Bienvenu, Thierry, Campeau, Philippe M., Rousseau, Justine, Levy, Michael A., Brick, Lauren, Kozenko, Mariya, Balci, Tugce B., Siu, Victoria Mok, Stuart, Alan, Kadour, Mike, Masters, Jennifer, Takano, Kyoko, Kleefstra, Tjitske, de Leeuw, Nicole, Field, Michael, Shaw, Marie, Gecz, Jozef, Ainsworth, Peter J., Lin, Hanxin, Rodenhiser, David I., Friez, Michael J., Tedder, Matt, Lee, Jennifer A., DuPont, Barbara R., Stevenson, Roger E., Skinner, Steven A., Schwartz, Charles E., Genevieve, David, Sadikovic, Bekim

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Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders 由 Aref-Eshghi, Erfan, Kerkhof, Jennifer, Pedro, Victor P., France, Groupe DI, Barat-Houari, Mouna, Ruiz-Pallares, Nathalie, Andrau, Jean-Christophe, Lacombe, Didier, Van-Gils, Julien, Fergelot, Patricia, Dubourg, Christéle, Cormier-Daire, Valerie, Rondeau, Sophie, Lecoquierre, François, Saugier-Veber, Pascale, Nicolas, Gaël, Lesca, Gaetan, Chatron, Nicolas, Sanlaville, Damien, Vitobello, Antonio, Faivre, Laurence, Thauvin-Robinet, Christel, Laumonnier, Frederic, Raynaud, Martine, Alders, Mariëlle, Mannens, Marcel, Henneman, Peter, Hennekam, Raoul C., Velasco, Guillaume, Francastel, Claire, Ulveling, Damien, Ciolfi, Andrea, Pizzi, Simone, Tartaglia, Marco, Heide, Solveig, Héron, Delphine, Mignot, Cyril, Keren, Boris, Whalen, Sandra, Afenjar, Alexandra, Bienvenu, Thierry, Campeau, Philippe M., Rousseau, Justine, Levy, Michael A., Brick, Lauren, Kozenko, Mariya, Balci, Tugce B., Siu, Victoria Mok, Stuart, Alan, Kadour, Mike, Masters, Jennifer, Takano, Kyoko, Kleefstra, Tjitske, de Leeuw, Nicole, Field, Michael, Shaw, Marie, Gecz, Jozef, Ainsworth, Peter J., Lin, Hanxin, Rodenhiser, David I., Friez, Michael J., Tedder, Matt, Lee, Jennifer A., DuPont, Barbara R., Stevenson, Roger E., Skinner, Steven A., Schwartz, Charles E., Genevieve, David, Sadikovic, Bekim

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

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