Search Results - "DuPont, Barbara"

H. Eldon Sutton, PhD (1927–2023): A long and full life by DuPont, Barbara R., Palmour, Roberta, Howard-Peebles, Patricia, Hsieh, Chih-Lin

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Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders by 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

“…Genetic syndromes frequently present with overlapping clinical features and inconclusive or ambiguous genetic findings which can confound accurate diagnosis…”
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Clinical findings in individuals with duplication of genes associated with X-linked intellectual disability by Sahajpal, Nikhil, Ziats, Catherine, Chaubey, Alka, DuPont, Barbara R, Abidi, Fatima, Schwartz, Charles E, Stevenson, Roger E

“…Duplication of all genes associated with X-linked intellectual disability (XLID) have been reported but the majority of the duplications include more than one…”
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Clinical Validation and Diagnostic Utility of Optical Genome Mapping in Prenatal Diagnostic Testing by Sahajpal, Nikhil S., Mondal, Ashis K., Fee, Timothy, Hilton, Benjamin, Layman, Lawrence, Hastie, Alex R., Chaubey, Alka, DuPont, Barbara R., Kolhe, Ravindra

“…The standard-of-care diagnostic prenatal testing includes a combination of cytogenetic methods, such as karyotyping, fluorescence in situ hybridization (FISH),…”
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Clinical and genomic evaluation of 201 patients with Phelan–McDermid syndrome by Sarasua, Sara M., Boccuto, Luigi, Sharp, Julia L., Dwivedi, Alka, Chen, Chin-Fu, Rollins, Jonathan D., Rogers, R. Curtis, Phelan, Katy, DuPont, Barbara R.

“…This study is the first to describe age-related changes in a large cohort of patients with Phelan–McDermid syndrome (PMS), also known as 22q13 deletion…”
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Sleep disturbances in Phelan‐McDermid syndrome: Clinical and metabolic profiling of 56 individuals by Moffitt, Bridgette A., Oberman, Lindsay M., Beamer, Laura, Srikanth, Sujata, Jain, Lavanya, Cascio, Lauren, Jones, Kelly, Pauly, Rini, May, Melanie, Skinner, Cindy, Buchanan, Caroline, DuPont, Barbara R., Kaufmann, Walter E., Valentine, Kathleen, Ward, Linda D., Ivankovic, Diana, Rogers, R. Curtis, Phelan, Katy, Sarasua, Sara M., Boccuto, Luigi

“…Phelan‐McDermid Syndrome (PMS) is caused by deletions at chromosome 22q13.3 or pathogenic/likely pathogenic SHANK3 variants. The clinical presentation is…”
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Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome by 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

“…The 22q11.2 deletion syndrome (22q11.2DS) is the most common genomic disorder in humans and is the result of a recurrent 1.5 to 2.5 Mb deletion, encompassing…”
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KDM5A mutations identified in autism spectrum disorder using forward genetics by 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

“…Autism spectrum disorder (ASD) is a constellation of neurodevelopmental disorders with high phenotypic and genetic heterogeneity, complicating the discovery of…”
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A SOX3 duplication and lumbosacral spina bifida in three generations by Butler, Kameryn M., Fee, Timothy, DuPont, Barbara R., Dean, Jane H., Stevenson, Roger E., Lyons, Michael J.

“…Chromosomal aneuploidies, microduplications and microdeletions are the most common confirmed genetic causes of spina bifida. Microduplications of Xq27…”
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Paternal UPD14 with sSMC derived from chromosome 14 in Kagami–Ogata syndrome by Wang, Jiyong, Lichty, Angie, Johnson, Jill, Couick, Chandler, Moore, Mary Alice, Christensen, Beth, Howard, Khirston, Lee, Jennifer A., DuPont, Barbara R., Clarkson, Lola, Hilton, Benjamin A.

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The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development by Sajan, Samin A, Brown, Carolyn M, Davis-Keppen, Laura, Burns, Kaitlyn, Royer, Erin, Coleman, Jessica A Cooley, Hilton, Benjamin A, DuPont, Barbara R, Perry, Denise L, Taft, Ryan J, Kesari, Akanchha

“…Copy number variants that duplicate distal upstream enhancer elements of the SOX9 gene cause 46,XX testicular differences of sex development (DSD) which is…”
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P435: Diagnostic yield and copy number findings from 500 clinical genome sequencing cases by Butler, Kameryn, Hilton, Benjamin, Fee, Timothy, DuPont, Barbara

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Neurofibromatosis type 2 in Phelan-McDermid syndrome: Institutional experience and review of the literature by Ziats, Catherine A., Jain, Lavanya, McLarney, Brittany, Vandenboom, Emily, DuPont, Barbara R., Rogers, Curtis, Sarasua, Sara, Nevado, Julian, Cordisco, Emanuela Lucci, Phelan, Katy, Boccuto, Luigi

“…Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder caused by rearrangements on chromosome 22q13.3 or sequence variants in SHANK3. Individuals…”
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Autistic Disorder: A 20 Year Chronicle by Skinner, Cindy, Pauly, Rini, Skinner, Steven A., Schroer, Richard J., Simensen, Richard J., Taylor, Harold A., Friez, Michael J., DuPont, Barbara R., Stevenson, Roger E.

“…The course of 187 individuals ages 3–21 years with Autistic Disorder was traced through a period of 20 years (enrollment: 1995–1998, follow up: 2014–2019)…”
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Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases by Kerkhof, Jennifer, Rastin, Cassandra, Levy, Michael A., Relator, Raissa, McConkey, Haley, Demain, Leigh, Dominguez-Garrido, Elena, Kaat, Laura Donker, Houge, Sofia Douzgou, DuPont, Barbara R., Fee, Timothy, Fletcher, Robin S., Gokhale, David, Haukanes, Bjørn Ivar, Henneman, Peter, Hilton, Sarah, Hilton, Benjamin A., Jenkinson, Sarah, Lee, Jennifer A., Louie, Raymond J., Motazacker, M. Mahdi, Rzasa, Jessica, Stevenson, Roger E., Plomp, Astrid, van der Laan, Liselot, van der Smagt, Jasper, Walden, Kellie K., Banka, Siddharth, Mannens, Marcel, Skinner, Steven A., Friez, Michael J., Campbell, Christopher, Tedder, Matthew L., Alders, Marielle, Sadikovic, Bekim

“…This study aims to assess the diagnostic utility and provide reporting recommendations for clinical DNA methylation episignature testing based on the cohort of…”
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17q25.3 copy number changes: association with neurodevelopmental disorders and cardiac malformation by Sahajpal, Nikhil Shri, Jeffrey, David H F, DuPont, Barbara R, Hilton, Benjamin

“…Copy number variants (CNVs) have been identified as common genomic variants that play a significant role in inter-individual variability. Conversely, rare…”
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Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome) by Sarasua, Sara M, Dwivedi, Alka, Boccuto, Luigi, Rollins, Jonathan D, Chen, Chin-Fu, Rogers, R Curtis, Phelan, Katy, DuPont, Barbara R, Collins, Julianne S

“…The clinical features of Phelan-McDermid syndrome (also known as 22q13 deletion syndrome) are highly variable and include hypotonia, speech and other…”
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22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan–McDermid syndrome by Sarasua, Sara M., Dwivedi, Alka, Boccuto, Luigi, Chen, Chin-Fu, Sharp, Julia L., Rollins, Jonathan D., Collins, Julianne S., Rogers, R. Curtis, Phelan, Katy, DuPont, Barbara R.

“…Purpose: Phelan–McDermid syndrome is a developmental disability syndrome with varying deletions of 22q13 and varying clinical severity. We tested the…”
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Clinical Utility of Optical Genome Mapping and 523-Gene Next Generation Sequencing Panel for Comprehensive Evaluation of Myeloid Cancers by Sahajpal, Nikhil Shri, Mondal, Ashis K, Singh, Harmanpreet, Vashisht, Ashutosh, Ananth, Sudha, Saul, Daniel, Hastie, Alex R, Hilton, Benjamin, DuPont, Barbara R, Savage, Natasha M, Kota, Vamsi, Chaubey, Alka, Cortes, Jorge E, Kolhe, Ravindra

“…The standard-of-care (SOC) for genomic testing of myeloid cancers primarily relies on karyotyping/fluorescent in situ hybridization (FISH) (cytogenetic…”
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The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomes by Li, Peining, Dupont, Barbara, Hu, Qiping, Crimi, Marco, Shen, Yiping, Lebedev, Igor, Liehr, Thomas

“…Human ring chromosomes (RCs) are rare diseases with an estimated newborn incidence of 1/50,000 and an annual occurrence of 2,800 patients globally. Over the…”
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