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

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia

PTBP1 变异体表现出核质分布改变,是导致伴有骨骼发育不良的神经发育障碍的原因。

Masson, Aymeric; Paccaud, Julien; Orefice, Martina; Colin, Estelle; Mäkitie, Outi; Cormier-Daire, Valérie; Relator, Raissa; Ghosh, Sourav; Strub, Jean-Marc; Schaeffer-Reiss, Christine; Marcelis, Carlo; Koolen, David A; Pfundt, Rolph; de Boer, Elke; Vissers, Lisenka Elm; Gardeitchik, Thatjana; Aarts, Lonneke Am; Rinne, Tuula; Terhal, Paulien A; Verbeek, Nienke E; Zuurbier, Linda C; Plomp, Astrid S; Wessels, Marja W; de Man, Stella A; Bouman, Arjan; Bird, Lynne M; Saadeh-Haddad, Reem; Guillen Sacoto, Maria J; Person, Richard; Gooch, Catherine; Hurst, Anna Ce; Thompson, Michelle L; Hiatt, Susan M; Littlejohn, Rebecca O; Roeder, Elizabeth R; Mori, Mari; Hickey, Scott E; Hunter, Jesse M; Lee, Kristy; Osman, Khaled; Halloun, Rana; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Wieczorek, Dagmar; Platzer, Konrad; Luppe, Johannes; Duplomb-Jego, Laurence; El It, Fatima; Duffourd, Yannis; Tran Mau-Them, Frédéric; Huber, Celine; Gordon, Christopher T; Taylan, Fulya; Mäkitie, Riikka E; Costantini, Alice; Valta, Helena; Robertson, Stephen; Poke, Gemma; Francoise, Michel; Ciolfi, Andrea; Tartaglia, Marco; Ekhilevitch, Nina; Zaid, Rinat; Levy, Michael A; Kerkhof, Jennifer; McConkey, Haley; Delanne, Julian; Chevarin, Martin; Vautrot, Valentin; Bourgeois, Valentin; Nguyen, Sylvie; Marle, Nathalie; Callier, Patrick; Safraou, Hana; Morgan, Angela; Amor, David J; Hildebrand, Michael S; Coman, David; Aubert Mucca, Marion; Thevenon, Julien; Laffargue, Fanny; Bilan, Frédéric; Pebrel-Richard, Céline; Yoon, Grace; Axford, Michelle M; Pérez-Jurado, Luis A; Sevilla-Porras, Marta; Black, Douglas L; Philippe, Christophe; Sadikovic, Bekim; Thauvin-Robinet, Christel; Olivier-Faivre, Laurence; Ori, Michela; Thomas, Quentin; Vitobello, Antonio

Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures

剪接体因子 CRNKL1 的复发性新生变异与严重的头小畸形和伴有癫痫发作的脑桥小脑发育不全有关。

Ray Das, Sankalita; Sullivan, Rosie; Ruegg, Mischa S G; Horsfield, Julia; Doran, Jordan; Poke, Gemma; de Vries, Nathalie; Duerinckx, Sarah; Lederer, Damien; Haniffa, Muzhirah; Keng, Wee-Teik; Ch'ng, Gaik-Siew; Parry, David A; Jackson, Andrew P; Sakamoto, Masamune; Matsumoto, Naomichi; Miyake, Noriko; Nabatame, Shin; Taniguchi, Hidetoshi; Wakeling, Emma; Õunap, Katrin; Ilves, Pilvi; Mirzaa, Ghayda; Timms, Andrew; Pao, Emily; Aldinger, Kimberly A; Dobyns, William; Bohring, Axel; Behre, Beate; Calame, Daniel G; Lupski, James R; Pascual, Juan M; Abramowicz, Marc; Gimenez, Gregory; Bicknell, Louise S

Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome

对患有科内莉亚·德·兰格综合征的“突变阴性”个体进行全基因组测序

Ansari, Morad; Halachev, Mihail; Parry, David; Campos, Jose L; D'Souza, Elston N; Barnett, Christopher; Wilkie, Andrew O M; Barnicoat, Angela; Patel, Chirag V; Sukarova-Angelovska, Elena; Girisha, Katta M; Firth, Helen V; Prescott, Katrina; Wilson, Louise C; McEntagart, Meriel; Davidson, Rosemarie; Lynch, Sally Ann; Joss, Shelagh; Holden, Simon T; Lam, Wayne K; Sisodiya, Sanjay M; Green, Andrew J; Poke, Gemma; Whiffin, Nicola; FitzPatrick, David R; Meynert, Alison

Prehospital notification in acute stroke: a retrospective cohort study

急性卒中院前通知:一项回顾性队列研究

Kimbrell, Joshua; Shekhar, Aditya C; Stebel, Jacob; Poke, Dana; Geldner, Jacob; Kreinbrook, Judah; Hasan, Abigail; Vega, John; Mac Grory, Brian; Robitsek, R Jonathan

Potency of Dimethyl Dicarbonate on the Microbial Inhibition Growth Kinetics, and Quality of Passion Fruit (Passiflora edulis) Juice during Refrigerated Storage

二碳酸二甲酯对冷藏期间百香果汁微生物抑制生长动力学及品质的影响

Shiekh, Khursheed Ahmad; Noieaid, Akaranaj; Gadpoca, Poke; Sermwiwatwong, Supassorn; Jafari, Saeid; Kijpatanasilp, Isaya; Worobo, Randy W; Assatarakul, Kitipong

Epidemiology of Developmental and Epileptic Encephalopathy and of Intellectual Disability and Epilepsy in Children

儿童发育性及癫痫性脑病、智力障碍和癫痫的流行病学

Poke, Gemma; Stanley, James; Scheffer, Ingrid E; Sadleir, Lynette G

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

ANKRD17 杂合子功能缺失变异会导致一种综合征,其特征为智力障碍、语言发育迟缓和畸形。

Chopra, Maya; McEntagart, Meriel; Clayton-Smith, Jill; Platzer, Konrad; Shukla, Anju; Girisha, Katta M; Kaur, Anupriya; Kaur, Parneet; Pfundt, Rolph; Veenstra-Knol, Hermine; Mancini, Grazia M S; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Kortüm, Fanny; Hempel, Maja; Denecke, Jonas; Lehman, Anna; Kleefstra, Tjitske; Stuurman, Kyra E; Wilke, Martina; Thompson, Michelle L; Bebin, E Martina; Bijlsma, Emilia K; Hoffer, Mariette J V; Peeters-Scholte, Cacha; Slavotinek, Anne; Weiss, William A; Yip, Tiffany; Hodoglugil, Ugur; Whittle, Amy; diMonda, Janette; Neira, Juanita; Yang, Sandra; Kirby, Amelia; Pinz, Hailey; Lechner, Rosan; Sleutels, Frank; Helbig, Ingo; McKeown, Sarah; Helbig, Katherine; Willaert, Rebecca; Juusola, Jane; Semotok, Jennifer; Hadonou, Medard; Short, John; Yachelevich, Naomi; Lala, Sajel; Fernández-Jaen, Alberto; Pelayo, Janvier Porta; Klöckner, Chiara; Kamphausen, Susanne B; Abou Jamra, Rami; Arelin, Maria; Innes, A Micheil; Niskakoski, Anni; Amin, Sam; Williams, Maggie; Evans, Julie; Smithson, Sarah; Smedley, Damian; de Burca, Anna; Kini, Usha; Delatycki, Martin B; Gallacher, Lyndon; Yeung, Alison; Pais, Lynn; Field, Michael; Martin, Ellenore; Charles, Perrine; Courtin, Thomas; Keren, Boris; Iascone, Maria; Cereda, Anna; Poke, Gemma; Abadie, Véronique; Chalouhi, Christel; Parthasarathy, Padmini; Halliday, Benjamin J; Robertson, Stephen P; Lyonnet, Stanislas; Amiel, Jeanne; Gordon, Christopher T

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders

小脑共济失调及相关神经系统疾病外显子组测序的诊断上限

Ngo, Kathie J; Rexach, Jessica E; Lee, Hane; Petty, Lauren E; Perlman, Susan; Valera, Juliana M; Deignan, Joshua L; Mao, Yuanming; Aker, Mamdouh; Posey, Jennifer E; Jhangiani, Shalini N; Coban-Akdemir, Zeynep H; Boerwinkle, Eric; Muzny, Donna; Nelson, Alexandra B; Hassin-Baer, Sharon; Poke, Gemma; Neas, Katherine; Geschwind, Michael D; Grody, Wayne W; Gibbs, Richard; Geschwind, Daniel H; Lupski, James R; Below, Jennifer E; Nelson, Stanley F; Fogel, Brent L

A Nationwide, Population-Based Prevalence Study of Genetic Muscle Disorders

一项全国性的、基于人群的遗传性肌肉疾病患病率研究

Theadom, Alice; Rodrigues, Miriam; Poke, Gemma; O'Grady, Gina; Love, Donald; Hammond-Tooke, Graeme; Parmar, Priya; Baker, Ronelle; Feigin, Valery; Jones, Kelly; Te Ao, Braden; Ranta, Anna; Roxburgh, Richard

Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with a GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out human cell line

从携带 GNB5 致病变异的患者体内生成诱导性人类多能干细胞系 CSSi009-A,并从 CRISPR/Cas9 工程化的 GNB5 敲除人类细胞系中生成 CSSi010-A

Natascia Malerba, Patrizia Benzoni, Gabriella Maria Squeo, Raffaella Milanesi, Federica Giannetti, Lynette G Sadleir, Gemma Poke, Bartolomeo Augello, Anna Irma Croce, Andrea Barbuti, Giuseppe Merla