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

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

关于“CERT1突变通过破坏鞘脂稳态扰乱人类发育”一文的更正

Gehin, Charlotte; Lone, Museer A; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M; Gerkes, Erica H; Stegmann, Alexander Pa; López-Martín, Estrella; Bermejo-Sánchez, Eva; Martínez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Gräfe, Daniel; Knerr, Ina; Jones, Eppie R; Zamuner, Stefano; Abriata, Luciano A; Kunnathully, Vidya; Moeller, Brandon E; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; van Bon, Bregje W; Pfundt, Rolph; Willemsen, Marjolein H; Schieving, Jolanda H; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R; Beier, Christoph P; Larsen, Martin J; Valenzuela, Irene; Fernández-Álvarez, Paula; Xiong, Shiyi; Śmigiel, Robert; López-González, Vanesa; Armengol, Lluís; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Tran Mau-Them, Frederic; Maddocks, Alexis Br; Bain, Jennifer M; Bhat, Musadiq A; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L; Friez, Michael J; Richardson, Ellen B; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Gupta, Yask; Lim, Tze Y; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E; Jakšić, Ana Marija; McCabe, Brian D; De Los Rios, Paolo; Hornemann, Thorsten; D'Angelo, Giovanni; Gennarino, Vincenzo A

Optical genome mapping identifies rare structural variants in neural tube defects

光学基因组图谱鉴定出神经管缺陷中的罕见结构变异

Sahajpal, Nikhil S; Dean, Jane; Hilton, Benjamin; Fee, Timothy; Skinner, Cindy; Hastie, Alex; DuPont, Barbara R; Chaubey, Alka; Friez, Michael J; Stevenson, Roger E

A novel approach to metabolic profiling in case models of MECP2-related disorders.

MECP2相关疾病病例模型代谢谱分析的新方法

Cooley Coleman Jessica A, Moffitt Bridgette A, Bridges William C, Jones Kelly, May Melanie, Skinner Cindy, Friez Michael J, Skinner Steven A, Schwartz Charles E, Boccuto Luigi

Normalized Clinical Severity Scores Reveal a Correlation between X Chromosome Inactivation and Disease Severity in Rett Syndrome

标准化临床严重程度评分揭示了雷特综合征中X染色体失活与疾病严重程度之间的相关性

Merritt, Jonathan K; Fang, Xiaolan; Caylor, Raymond C; Skinner, Steven A; Friez, Michael J; Percy, Alan K; Neul, Jeffrey L

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

CERT1基因突变通过破坏鞘脂稳态来扰乱人类发育。

Gehin, Charlotte; Lone, Museer A; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M; Gerkes, Erica H; Stegmann, Alexander Pa; López-Martín, Estrella; Bermejo-Sánchez, Eva; Martínez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Gräfe, Daniel; Knerr, Ina; Jones, Eppie R; Zamuner, Stefano; Abriata, Luciano A; Kunnathully, Vidya; Moeller, Brandon E; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; van Bon, Bregje W; Pfundt, Rolph; Willemsen, Marjolein H; Schieving, Jolanda H; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R; Beier, Christoph P; Larsen, Martin J; Valenzuela, Irene; Fernández-Álvarez, Paula; Xiong, Shiyi; Śmigiel, Robert; López-González, Vanesa; Armengol, Lluís; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Tran Mau-Them, Frederic; Maddocks, Alexis Br; Bain, Jennifer M; Bhat, Musadiq A; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L; Friez, Michael J; Richardson, Ellen B; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Gupta, Yask; Lim, Tze Y; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E; Jakšić, Ana Marjia; McCabe, Brian D; De Los Rios, Paolo; Hornemann, Thorsten; D'Angelo, Giovanni; Gennarino, Vincenzo A

Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711

ZNF711基因改变家族的临床发现和DNA甲基化特征

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

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

新型诊断性DNA甲基化表观遗传特征扩展并完善了孟德尔遗传病的表观遗传图谱

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

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

临床表观基因组学:利用全基因组DNA甲基化分析诊断孟德尔遗传病

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

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

更正:临床表观基因组学:用于诊断孟德尔遗传病的全基因组DNA甲基化分析

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

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