日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

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

评估DNA甲基化表观遗传特征在42种孟德尔遗传性神经发育障碍的诊断和表型相关性

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

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

评估DNA甲基化表观遗传特征在42种孟德尔遗传性神经发育障碍的诊断和表型相关性

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

Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions

全基因组DNA甲基化检测在疑似遗传疾病但基因未明确的个体中的诊断价值

Aref-Eshghi, Erfan; Bend, Eric G; Colaiacovo, Samantha; Caudle, Michelle; Chakrabarti, Rana; Napier, Melanie; Brick, Lauren; Brady, Lauren; Carere, Deanna Alexis; Levy, Michael A; Kerkhof, Jennifer; Stuart, Alan; Saleh, Maha; Beaudet, Arthur L; Li, Chumei; Kozenko, Maryia; Karp, Natalya; Prasad, Chitra; Siu, Victoria Mok; Tarnopolsky, Mark A; Ainsworth, Peter J; Lin, Hanxin; Rodenhiser, David I; Krantz, Ian D; Deardorff, Matthew A; Schwartz, Charles E; Sadikovic, Bekim

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

基因域特异性DNA甲基化表观遗传特征突显了ADNP综合征的不同分子实体。

Bend, Eric G; Aref-Eshghi, Erfan; Everman, David B; Rogers, R Curtis; Cathey, Sara S; Prijoles, Eloise J; Lyons, Michael J; Davis, Heather; Clarkson, Katie; Gripp, Karen W; Li, Dong; Bhoj, Elizabeth; Zackai, Elaine; Mark, Paul; Hakonarson, Hakon; Demmer, Laurie A; Levy, Michael A; Kerkhof, Jennifer; Stuart, Alan; Rodenhiser, David; Friez, Michael J; Stevenson, Roger E; Schwartz, Charles E; Sadikovic, Bekim

BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes

BAFopathies 的 DNA 甲基化表观遗传特征显示了 Coffin-Siris 综合征和 Nicolaides-Baraitser 综合征的诊断效用和功能连续性。

Aref-Eshghi, Erfan; Bend, Eric G; Hood, Rebecca L; Schenkel, Laila C; Carere, Deanna Alexis; Chakrabarti, Rana; Nagamani, Sandesh C S; Cheung, Sau Wai; Campeau, Philippe M; Prasad, Chitra; Siu, Victoria Mok; Brady, Lauren; Tarnopolsky, Mark A; Callen, David J; Innes, A Micheil; White, Susan M; Meschino, Wendy S; Shuen, Andrew Y; Paré, Guillaume; Bulman, Dennis E; Ainsworth, Peter J; Lin, Hanxin; Rodenhiser, David I; Hennekam, Raoul C; Boycott, Kym M; Schwartz, Charles E; Sadikovic, Bekim

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes

基因组DNA甲基化特征可同时用于神经发育综合征的诊断和临床遗传变异分类

Aref-Eshghi, Erfan; Rodenhiser, David I; Schenkel, Laila C; Lin, Hanxin; Skinner, Cindy; Ainsworth, Peter; Paré, Guillaume; Hood, Rebecca L; Bulman, Dennis E; Kernohan, Kristin D; Boycott, Kym M; Campeau, Philippe M; Schwartz, Charles; Sadikovic, Bekim

Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C

克莱斯-詹森综合征的外周血表观遗传特征能够灵敏且特异地识别携带KDM5C致病突变的患者和健康携带者。

Schenkel, Laila C; Aref-Eshghi, Erfan; Skinner, Cindy; Ainsworth, Peter; Lin, Hanxin; Paré, Guillaume; Rodenhiser, David I; Schwartz, Charles; Sadikovic, Bekim

Genomic DNA Methylation-Derived Algorithm Enables Accurate Detection of Malignant Prostate Tissues

基于基因组DNA甲基化的算法能够准确检测前列腺恶性组织

Aref-Eshghi, Erfan; Schenkel, Laila C; Ainsworth, Peter; Lin, Hanxin; Rodenhiser, David I; Cutz, Jean-Claude; Sadikovic, Bekim

Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome

鉴定与α地中海贫血/智力低下X连锁综合征相关的表观遗传特征

Schenkel, Laila C; Kernohan, Kristin D; McBride, Arran; Reina, Ditta; Hodge, Amanda; Ainsworth, Peter J; Rodenhiser, David I; Pare, Guillaume; Bérubé, Nathalie G; Skinner, Cindy; Boycott, Kym M; Schwartz, Charles; Sadikovic, Bekim

Constitutional Epi/Genetic Conditions: Genetic, Epigenetic, and Environmental Factors

体质性表观/遗传状况:遗传、表观遗传和环境因素

Schenkel, Laila C; Rodenhiser, David; Siu, Victoria; McCready, Elizabeth; Ainsworth, Peter; Sadikovic, Bekim