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

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

针对 HNRNPK 基因的特异性 DNA 甲基化特征能够解释错义变异,并扩展 Au-Kline 综合征的表型谱。

Choufani, Sanaa; McNiven, Vanda; Cytrynbaum, Cheryl; Jangjoo, Maryam; Adam, Margaret P; Bjornsson, Hans T; Harris, Jacqueline; Dyment, David A; Graham, Gail E; Nezarati, Marjan M; Aul, Ritu B; Castiglioni, Claudia; Breckpot, Jeroen; Devriendt, Koen; Stewart, Helen; Banos-Pinero, Benito; Mehta, Sarju; Sandford, Richard; Dunn, Carolyn; Mathevet, Remi; van Maldergem, Lionel; Piard, Juliette; Brischoux-Boucher, Elise; Vitobello, Antonio; Faivre, Laurence; Bournez, Marie; Tran-Mau, Frederic; Maystadt, Isabelle; Fernández-Jaén, Alberto; Alvarez, Sara; García-Prieto, Irene Díez; Alkuraya, Fowzan S; Alsaif, Hessa S; Rahbeeni, Zuhair; El-Akouri, Karen; Al-Mureikhi, Mariam; Spillmann, Rebecca C; Shashi, Vandana; Sanchez-Lara, Pedro A; Graham, John M Jr; Roberts, Amy; Chorin, Odelia; Evrony, Gilad D; Kraatari-Tiri, Minna; Dudding-Byth, Tracy; Richardson, Anamaria; Hunt, David; Hamilton, Laura; Dyack, Sarah; Mendelsohn, Bryce A; Rodríguez, Nicolás; Sánchez-Martínez, Rosario; Tenorio-Castaño, Jair; Nevado, Julián; Lapunzina, Pablo; Tirado, Pilar; Carminho Amaro Rodrigues, Maria-Teresa; Quteineh, Lina; Innes, A Micheil; Kline, Antonie D; Au, P Y Billie; Weksberg, Rosanna

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series

与NUS1致病变异相关的神经系统表型谱:一项综合病例系列研究

Brooker, Sarah M; Novelli, Maria; Coukos, Robert; Prakash, Neha; Kamel, Walaa A; Amengual-Gual, Marta; Anheim, Mathieu; Barcia, Giulia; Bardakjian, Tanya; Baur, Franciska; Berweck, Steffen; Bölsterli, Bigna K; Brugger, Melanie; Cassini, Thomas; Chatron, Nicolas; Corner, Brian; Dafsari, Hormos Salimi; de Sainte Agathe, Jean-Madeleine; Ellis, Colin A; Ezell, Kimberly M; Foucard, Cendrine; Frucht, Steven J; Garcia, Maria C; Gill, Deepak; Guimier, Anne; Hamid, Rizwan; Heine-Suñer, Damià; Herkenrath, Peter; Hully, Marie; Isaias, Ioannis U; Januel, Louis; Laurencin, Chloe; Laut, Taylor; Lavillaureix, Alinoe; Lesca, Gaetan; Lesieur-Sebellin, Marion; Magistrelli, Luca; Marelli, Cecilia; Mefford, Heather C; Mendelsohn, Bryce A; Mercimek-Andrews, Saadet; Miller, Claire; Mohammad, Shekeeb S; Morgante, Francesca; Nandipati, Sirisha; Opladen, Thomas; Padmanaban, Mahesh; Pauni, Micaela; Pezzoli, Gianni; Piton, Amelie; Ramond, Francis; Riboldi, Giulietta M; Rougeot-Jung, Christelle; Santos-Simarro, Fernando; Scheffer, Ingrid E; Serari, Naoual; Stahl, Christine M; Kung, Ann Stembridge; Tarongí Sanchez, Susana; Thauvin-Robinet, Christel; Till, Marianne; Tranchant, Christine; Troedson, Christopher; Tropea, Thomas F; Vanakker, Olivier; Vega, Patricia; Wiese, Maxi Leona; Wieshmann, Udo; Williams, Laura J; Wirth, Thomas; Zech, Michael; Zempel, Hans; Roze, Emmanuel; Leuzzi, Vincenzo; Galosi, Serena; Fung, Victor S C; Carvill, Gemma; Krainc, Dimitri; Gerard, Elizabeth; Mencacci, Niccolò E

ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature

ARID2相关疾病:进一步阐明27例新患者的临床表型并描述其表观遗传特征

Houdayer, Clara; Rooney, Kathleen; van der Laan, Liselot; Bris, Céline; Alders, Mariëlle; Bahr, Angela; Barcia, Giulia; Battault, Clarisse; Begemann, Anais; Bonneau, Dominique; Bonnevalle, Antoine; Boughalem, Aicha; Bourges, Alice; Bournez, Marie; Bruel, Ange-Line; Buhas, Daniela; Carallis, Floriane; Cogné, Benjamin; Cormier-Daire, Valérie; Delanne, Julian; Demaret, Tanguy; Denommé-Pichon, Anne-Sophie; Désir, Julie; Dubourg, Christèle; Fradin, Mélanie; Geneviève, David; Goel, Himanshu; Goldenberg, Alice; Gripp, Karen W; Guichet, Agnès; Guimier, Anne; Jacquinet, Adeline; Keren, Boris; Legoff, Louis; Levy, Michael A; McConkey, Haley; Mendelsohn, Bryce A; Mignot, Cyril; Milon, Vincent; Nizon, Mathilde; Oneda, Beatrice; Pasquier, Laurent; Patat, Olivier; Philippe, Christophe; Procaccio, Vincent; Procopio, Rebecca; Prouteau, Clément; Rambaud, Thomas; Rauch, Anita; Relator, Raissa; Rondeau, Sophie; Santen, Gijs W E; Schleit, Jennifer; Sorlin, Arthur; Steindl, Katharina; Tedder, Matt; Tessarech, Marine; Mau-Them, Frédéric Tran; Trost, Detlef; Van der Sluijs, Pleuntje J; Vincent, Marie; Whalen, Sandra; Thauvin-Robinet, Christel; Isidor, Bertrand; Sadikovic, Bekim; Vitobello, Antonio; Colin, Estelle

Reclassifying IDUA c.250G>A (p.Gly84Ser): Evidence for a Possible Pseudodeficiency Allele

IDUA c.250G>A (p.Gly84Ser) 的重新分类:可能存在假性缺陷等位基因的证据

Connolly, Christopher; Fisher, Rachel; Yang, Chen; Schelley, Susan; Mendelsohn, Bryce A; Lee, Chung; Ahmad, Ayesha

Arimoclomol and levacetylleucine for the treatment of neurologic manifestations of Niemann-Pick disease type C: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)

Arimoclomol 和左乙酰亮氨酸用于治疗尼曼-匹克病 C 型神经系统症状:美国医学遗传学和基因组学学会 (ACMG) 治疗学公告

Rodriguez-Gil, Jorge L; Smith, Wendy E; Chang, Irene J; Mendelsohn, Bryce A

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

KMT2C基因的致病变异会导致一种不同于克利夫斯特拉综合征和歌舞伎综合征的神经发育障碍。

Rots, Dmitrijs; Choufani, Sanaa; Faundes, Victor; Dingemans, Alexander J M; Joss, Shelagh; Foulds, Nicola; Jones, Elizabeth A; Stewart, Sarah; Vasudevan, Pradeep; Dabir, Tabib; Park, Soo-Mi; Jewell, Rosalyn; Brown, Natasha; Pais, Lynn; Jacquemont, Sébastien; Jizi, Khadijé; Ravenswaaij-Arts, Conny M A van; Kroes, Hester Y; Stumpel, Constance T R M; Ockeloen, Charlotte W; Diets, Illja J; Nizon, Mathilde; Vincent, Marie; Cogné, Benjamin; Besnard, Thomas; Kambouris, Marios; Anderson, Emily; Zackai, Elaine H; McDougall, Carey; Donoghue, Sarah; O'Donnell-Luria, Anne; Valivullah, Zaheer; O'Leary, Melanie; Srivastava, Siddharth; Byers, Heather; Leslie, Nancy; Mazzola, Sarah; Tiller, George E; Vera, Moin; Shen, Joseph J; Boles, Richard; Jain, Vani; Brischoux-Boucher, Elise; Kinning, Esther; Simpson, Brittany N; Giltay, Jacques C; Harris, Jacqueline; Keren, Boris; Guimier, Anne; Marijon, Pierre; Vries, Bert B A de; Motter, Constance S; Mendelsohn, Bryce A; Coffino, Samantha; Gerkes, Erica H; Afenjar, Alexandra; Visconti, Paola; Bacchelli, Elena; Maestrini, Elena; Delahaye-Duriez, Andree; Gooch, Catherine; Hendriks, Yvonne; Adams, Hieab; Thauvin-Robinet, Christel; Josephi-Taylor, Sarah; Bertoli, Marta; Parker, Michael J; Rutten, Julie W; Caluseriu, Oana; Vernon, Hilary J; Kaziyev, Jonah; Zhu, Jia; Kremen, Jessica; Frazier, Zoe; Osika, Hailey; Breault, David; Nair, Sreelata; Lewis, Suzanne M E; Ceroni, Fabiola; Viggiano, Marta; Posar, Annio; Brittain, Helen; Giovanna, Traficante; Giulia, Gori; Quteineh, Lina; Ha-Vinh Leuchter, Russia; Zonneveld-Huijssoon, Evelien; Mellado, Cecilia; Marey, Isabelle; Coudert, Alicia; Aracena Alvarez, Mariana Inés; Kennis, Milou G P; Bouman, Arianne; Roifman, Maian; Amorós Rodríguez, María Inmaculada; Ortigoza-Escobar, Juan Dario; Vernimmen, Vivian; Sinnema, Margje; Pfundt, Rolph; Brunner, Han G; Vissers, Lisenka E L M; Kleefstra, Tjitske; Weksberg, Rosanna; Banka, Siddharth

A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT

一项针对携带GALT基因S135L (c.404C > T)变异的1型半乳糖血症患者的急性和长期预后进行的多国研究

Katler, Quinton S; Stepien, Karolina M; Paull, Nathan; Patel, Sneh; Adams, Michael; Balci, Mehmet Cihan; Berry, Gerard T; Bosch, Annet M; DeLaO, Angela; Demirbas, Didem; Edman, Julianna; Ficicioglu, Can; Goff, Melanie; Hacker, Stephanie; Knerr, Ina; Lancaster, Kristen; Li, Hong; Mendelsohn, Bryce A; Nichols, Brandi; de Rezende Pinto, Wladimir Bocca Vieira; Rocha, Júlio César; Rubio-Gozalbo, M Estela; Saad-Naguib, Michael; Scholl-Buergi, Sabine; Searcy, Sarah; de Souza, Paulo Victor Sgobbi; Wittenauer, Angela; Fridovich-Keil, Judith L

Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair

时机至关重要:亨特综合征的临床病程与同胞兄弟姐妹开始治疗的年龄相关

Grant, Nathan; Sohn, Young Bae; Ellinwood, N Matthew; Okenfuss, Ericka; Mendelsohn, Bryce A; Lynch, Leslie E; Braunlin, Elizabeth A; Harmatz, Paul R; Eisengart, Julie B

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study

医生指导下的基因筛查用于评估个人罹患需采取医疗措施的疾病的风险:一项大型多中心队列研究

Haverfield, Eden V; Esplin, Edward D; Aguilar, Sienna J; Hatchell, Kathryn E; Ormond, Kelly E; Hanson-Kahn, Andrea; Atwal, Paldeep S; Macklin-Mantia, Sarah; Hines, Stephanie; Sak, Caron W-M; Tucker, Steven; Bleyl, Steven B; Hulick, Peter J; Gordon, Ora K; Velsher, Lea; Gu, Jessica Y J; Weissman, Scott M; Kruisselbrink, Teresa; Abel, Christopher; Kettles, Michele; Slavotinek, Anne; Mendelsohn, Bryce A; Green, Robert C; Aradhya, Swaroop; Nussbaum, Robert L

Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study

更正:医生指导下的基因筛查评估个人罹患需采取医学干预措施的疾病的风险:一项大型多中心队列研究

Haverfield, Eden V; Esplin, Edward D; Aguilar, Sienna J; Hatchell, Kathryn E; Ormond, Kelly E; Hanson-Kahn, Andrea; Atwal, Paldeep S; Macklin-Mantia, Sarah; Hines, Stephanie; Sak, Caron W-M; Tucker, Steven; Bleyl, Steven B; Hulick, Peter J; Gordon, Ora K; Velsher, Lea; Gu, Jessica Y J; Weissman, Scott M; Kruisselbrink, Teresa; Abel, Christopher; Kettles, Michele; Slavotinek, Anne; Mendelsohn, Bryce A; Green, Robert C; Aradhya, Swaroop; Nussbaum, Robert L