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

Role of CAMK2D in neurodevelopment and associated conditions

CAMK2D在神经发育及相关疾病中的作用

Rigter, Pomme M F; de Konink, Charlotte; Dunn, Matthew J; Proietti Onori, Martina; Humberson, Jennifer B; Thomas, Matthew; Barnes, Caitlin; Prada, Carlos E; Weaver, K Nicole; Ryan, Thomas D; Caluseriu, Oana; Conway, Jennifer; Calamaro, Emily; Fong, Chin-To; Wuyts, Wim; Meuwissen, Marije; Hordijk, Eva; Jonkers, Carsten N; Anderson, Lucas; Yuseinova, Berfin; Polonia, Sarah; Beysen, Diane; Stark, Zornitza; Savva, Elena; Poulton, Cathryn; McKenzie, Fiona; Bhoj, Elizabeth; Bupp, Caleb P; Bézieau, Stéphane; Mercier, Sandra; Blevins, Amy; Wentzensen, Ingrid M; Xia, Fan; Rosenfeld, Jill A; Hsieh, Tzung-Chien; Krawitz, Peter M; Elbracht, Miriam; Veenma, Danielle C M; Schulman, Howard; Stratton, Margaret M; Küry, Sébastien; van Woerden, Geeske M

Further phenotypical delineation of DLG3-related neurodevelopmental disorders

DLG3相关神经发育障碍的进一步表型描述

Malbos, Marlène; Gautier, Thierry; Shillington, Amelle; Colin, Estelle; Le Guillou, Xavier; Caluseriu, Oana; Isidor, Bertrand; Cogné, Benjamin; Mignot, Cyril; Keren, Boris; Weber, Sacha; Jacquin, Clémence; Dudding, Tracy; Calame, Daniel; Piard, Juliette; Levy, Jonathan; Latypova, Xenia; Verloes, Alain; Niclass, Tanguy; Jacquette, Aurélia; White, Lori; Moizard, Marie-Pierre; Dollfus, Hélène; Moutton, Sébastien; Delanne, Julian; Racine, Caroline; Thomas, Quentin; Denommé-Pichon, Anne-Sophie; Tran Mau-Them, Frédéric; Bruel, Ange-Line; Safraou, Hana; Philippe, Christophe; Duffourd, Yannis; Thauvin-Robinet, Christel; Govin, Jérôme; Vitobello, Antonio; Faivre, Laurence

Functional Characterization of Variants in LARP7: Report of Three New Individuals With Alazami Syndrome and a Literature Review

LARP7基因变异的功能表征:三例阿拉扎米综合征新病例报告及文献综述

Ambrose, Anastasia; Caluseriu, Oana; Mercimek-Andrews, Saadet

TRIAGE-GS: protocol for a randomised controlled trial of a genomics-first approach to rare disease diagnosis for patients awaiting assessment by a clinical geneticist

TRIAGE-GS:一项针对等待临床遗传学家评估的罕见病患者,采用基因组学优先方法进行诊断的随机对照试验方案

Stanley, Kaitlin J; Chisholm, Caitlin; Gillespie, Meredith K; Caluseriu, Oana; Del Signore, Natalie; Elango, Sonya; Hartley, Taila; Hewson, Stacy; Kim, Raymond H; McSheffrey, Gordon; Mendoza-Londono, Roberto; Sawyer, Sarah L; Somerville, Martin; Venkataramanan, Viji; White-Brown, Alexandre; Telesca, Stephanie; Shickh, Salma; Marshall, Christian R; Ungar, Wendy J; Hayeems, Robin Z; Bhawra, Jasmin; Boycott, Kym M; Costain, Gregory

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

Role of CAMK2D in neurodevelopment and associated conditions

CAMK2D在神经发育及相关疾病中的作用

Pomme M F Rigter ,Charlotte de Konink ,Matthew J Dunn ,Martina Proietti Onori ,Jennifer B Humberson ,Matthew Thomas ,Caitlin Barnes ,Carlos E Prada ,K Nicole Weaver ,Thomas D Ryan ,Oana Caluseriu ,Jennifer Conway ,Emily Calamaro ,Chin-To Fong ,Wim Wuyts ,Marije Meuwissen ,Eva Hordijk ,Carsten N Jonkers ,Lucas Anderson ,Berfin Yuseinova ,Sarah Polonia ,Diane Beysen ,Zornitza Stark ,Elena Savva ,Cathryn Poulton ,Fiona McKenzie ,Elizabeth Bhoj ,Caleb P Bupp ,Stéphane Bézieau ,Sandra Mercier ,Amy Blevins ,Ingrid M Wentzensen ,Fan Xia ,Jill A Rosenfeld ,Tzung-Chien Hsieh ,Peter M Krawitz ,Miriam Elbracht ,Danielle C M Veenma ,Howard Schulman ,Margaret M Stratton ,Sébastien Küry ,Geeske M van Woerden

A revised nomenclature for the lemur family of protein kinases

狐猴蛋白激酶家族命名法的修订

Mórotz, Gábor M; Bradbury, Neil A; Caluseriu, Oana; Hisanaga, Shin-Ichi; Miller, Christopher C J; Swiatecka-Urban, Agnieszka; Lenz, Heinz-Josef; Moss, Stephen J; Giamas, Georgios

De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis

从头突变表明染色质修饰、转录调控和视黄酸信号传导与综合征性颅缝早闭症有关。

Timberlake, Andrew T; McGee, Stephen; Allington, Garrett; Kiziltug, Emre; Wolfe, Erin M; Stiegler, Amy L; Boggon, Titus J; Sanyoura, May; Morrow, Michelle; Wenger, Tara L; Fernandes, Erica M; Caluseriu, Oana; Persing, John A; Jin, Sheng Chih; Lifton, Richard P; Kahle, Kristopher T; Kruszka, Paul

ARF1-related disorder: phenotypic and molecular spectrum

ARF1相关疾病:表型和分子谱

de Sainte Agathe, Jean-Madeleine; Pode-Shakked, Ben; Naudion, Sophie; Michaud, Vincent; Arveiler, Benoit; Fergelot, Patricia; Delmas, Jean; Keren, Boris; Poirsier, Céline; Alkuraya, Fowzan S; Tabarki, Brahim; Bend, Eric; Davis, Kellie; Bebin, Martina; Thompson, Michelle L; Bryant, Emily M; Wagner, Matias; Hannibal, Iris; Lenberg, Jerica; Krenn, Martin; Wigby, Kristen M; Friedman, Jennifer R; Iascone, Maria; Cereda, Anna; Miao, Térence; LeGuern, Eric; Argilli, Emanuela; Sherr, Elliott; Caluseriu, Oana; Tidwell, Timothy; Bayrak-Toydemir, Pinar; Hagedorn, Caroline; Brugger, Melanie; Vill, Katharina; Morneau-Jacob, Francois-Dominique; Chung, Wendy; Weaver, Kathryn N; Owens, Joshua W; Husami, Ammar; Chaudhari, Bimal P; Stone, Brandon S; Burns, Katie; Li, Rachel; de Lange, Iris M; Biehler, Margaux; Ginglinger, Emmanuelle; Gérard, Bénédicte; Stottmann, Rolf W; Trimouille, Aurélien

Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans

ADD1 基因变异会导致人类智力障碍、胼胝体发育不良和脑室扩大

Cai Qi, Irena Feng, Ana Rita Costa, Rita Pinto-Costa, Jennifer E Neil, Oana Caluseriu, Dong Li, Rebecca D Ganetzky, Charlotte Brasch-Andersen, Christina Fagerberg, Lars Kjærsgaard Hansen, Caleb Bupp, Colleen Clarke Muraresku, Xiangbin Ruan, Bowei Kang, Kaining Hu, Rong Zhong, Pedro Brites, Elizabeth