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

Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder

RAPGEF2基因中罕见的杂合新生变异与神经发育障碍相关。

Bereshneh, Ali H; Wilson, Kirkland A; Pan, Xueyang; Hannan, Shabab B; Cooper, Megan A; Diaz, Jullianne; Leon, Eyby; Moses, Tiana M; Azamian, Mahshid S; Scott, Daryl A; Billie Au, Ping Yee; Appendino, Juan Pablo; Scheffer, Ingrid E; Kaspi, Antony; Bahlo, Melanie; Hildebrand, Michael S; Morgan, Angela T; Ekure, Ekanem; Shulman, Joshua M; Hildebrandt, Friedhelm; Posey, Jennifer E; Kruszka, Paul; Vilain, Eric; Yamamoto, Shinya; Kanca, Oguz; Berger, Seth; Bellen, Hugo J

De novo MAP2K4 variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neurons

新发的MAP2K4变异会导致一种新的神经发育综合征,其特征是iPSC衍生神经元中的JNK信号传导受损。

Nomakuchi, Tomoki T; Rippert, Alyssa L; De León, Sabrina A Santos; Gonzalez, Elizabeth M; Li, Dong; Angireddy, Rajesh; Finoti, Livia Sertori; Faletra, Flavio; Musante, Luciana; Tuula, Rinne; Amor, David J; von Wintzingerode, Lydia; Jamra, Rami Abou; Stover, Samantha R; Buchan, Jillian G; Hayek, Jennifer; Leon, Eyby; Attie-Bitach, Tania; Rio, Marlene; Baujat, Genevieve; Wallach, Elisabeth; Smail, Amandine; Dias, Kerith-Rae; Pfeifer, Ulrich; Peterson, Amanda; Ahrens-Nicklas, Rebecca C; Bhoj, Elizabeth J K

Pearls & Oy-sters: Delayed Response to Pyridoxine in Pyridoxine-Dependent Epilepsy

珍珠与牡蛎:吡哆醇依赖性癫痫患者对吡哆醇的延迟反应

Fortin, Olivier; Christoffel, Kelsey; Kousa, Youssef; Miller, Ilana; Leon, Eyby; Donoho, Kelsey; Mulkey, Sarah B; Anwar, Tayyba

ALDH1A2-related disorder: A new genetic syndrome due to alteration of the retinoic acid pathway

ALDH1A2 相关疾病:因视黄酸通路改变而导致的一种新型遗传综合征

Eyby Leon, Claris Nde, Randall S Ray, Diego Preciado, Irene E Zohn

Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry

对中美洲血统的枫糖尿病患者 DBT 中反复观察到的变异进行基因组和生化分析

Charles J Billington Jr, Kimberly A Chapman, Eyby Leon, Beatrix W Meltzer, Seth I Berger, Matthew Olson, Robert A Figler, Steve A Hoang, Cui Wanxing, Brian R Wamhoff, M Sol Collado, Kristina Cusmano-Ozog

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

剪接体基因PPIL1和PRP17的突变导致神经退行性脑桥小脑发育不全伴小头畸形

Guoliang Chai,Alice Webb,Chen Li,Danny Antaki,Sangmoon Lee,Martin W Breuss,Nhi Lang,Valentina Stanley,Paula Anzenberg,Xiaoxu Yang,Trevor Marshall,Patrick Gaffney,Klaas J Wierenga,Brian Hon-Yin Chung,Mandy Ho-Yin Tsang,Lynn S Pais,Alysia Kern Lovgren,Grace E VanNoy,Heidi L Rehm,Ghayda Mirzaa,Eyby Leon,Jullianne Diaz,Alexander Neumann,Arnout P Kalverda,Iain W Manfield,David A Parry,Clare V Logan,Colin A Johnson,David T Bonthron,Elizabeth M A Valleley,Mahmoud Y Issa,Sherif F Abdel-Ghafar,Mohamed S Abdel-Hamid,Patricia Jennings,Maha S Zaki,Eamonn Sheridan,Joseph G Gleeson

Pure Distal 7q Duplication: Describing a Macrocephalic Neurodevelopmental Syndrome, Case Report and Review of the Literature

纯远端7q重复:巨头畸形神经发育综合征的描述、病例报告及文献综述

Bosfield, Kerri; Diaz, Jullianne; Leon, Eyby

Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency

NDUFAF8 致病性双等位基因突变导致 Leigh 综合征,并伴有单独的复合物 I 缺乏症

Charlotte L Alston, Mike T Veling, Juliana Heidler, Lucie S Taylor, Joseph T Alaimo, Andrew Y Sung, Langping He, Sila Hopton, Alexander Broomfield, Julija Pavaine, Jullianne Diaz, Eyby Leon, Philipp Wolf, Robert McFarland, Holger Prokisch, Saskia B Wortmann, Penelope E Bonnen, Ilka Wittig, David J P

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

临床外显子组测序揭示了黏连蛋白病的基因位点异质性和表型变异性

Yuan, Bo; Neira, Juanita; Pehlivan, Davut; Santiago-Sim, Teresa; Song, Xiaofei; Rosenfeld, Jill; Posey, Jennifer E; Patel, Vipulkumar; Jin, Weihong; Adam, Margaret P; Baple, Emma L; Dean, John; Fong, Chin-To; Hickey, Scott E; Hudgins, Louanne; Leon, Eyby; Madan-Khetarpal, Suneeta; Rawlins, Lettie; Rustad, Cecilie F; Stray-Pedersen, Asbjørg; Tveten, Kristian; Wenger, Olivia; Diaz, Jullianne; Jenkins, Laura; Martin, Laura; McGuire, Marianne; Pietryga, Marguerite; Ramsdell, Linda; Slattery, Leah; Abid, Farida; Bertuch, Alison A; Grange, Dorothy; Immken, LaDonna; Schaaf, Christian P; Van Esch, Hilde; Bi, Weimin; Cheung, Sau Wai; Breman, Amy M; Smith, Janice L; Shaw, Chad; Crosby, Andrew H; Eng, Christine; Yang, Yaping; Lupski, James R; Xiao, Rui; Liu, Pengfei

Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity

TAF1错义变异与发育表型:致病性判定的挑战

Cheng, Hanyin; Capponi, Simona; Wakeling, Emma; Marchi, Elaine; Li, Quan; Zhao, Mengge; Weng, Chunhua; Stefan, Piatek G; Ahlfors, Helena; Kleyner, Robert; Rope, Alan; Lumaka, Aimé; Lukusa, Prosper; Devriendt, Koenraad; Vermeesch, Joris; Posey, Jennifer E; Palmer, Elizabeth E; Murray, Lucinda; Leon, Eyby; Diaz, Jullianne; Worgan, Lisa; Mallawaarachchi, Amalia; Vogt, Julie; de Munnik, Sonja A; Dreyer, Lauren; Baynam, Gareth; Ewans, Lisa; Stark, Zornitza; Lunke, Sebastian; Gonçalves, Ana R; Soares, Gabriela; Oliveira, Jorge; Fassi, Emily; Willing, Marcia; Waugh, Jeff L; Faivre, Laurence; Riviere, Jean-Baptiste; Moutton, Sebastien; Mohammed, Shehla; Payne, Katelyn; Walsh, Laurence; Begtrup, Amber; Guillen Sacoto, Maria J; Douglas, Ganka; Alexander, Nora; Buckley, Michael F; Mark, Paul R; Adès, Lesley C; Sandaradura, Sarah A; Lupski, James R; Roscioli, Tony; Agrawal, Pankaj B; Kline, Antonie D; Wang, Kai; Timmers, H T Marc; Lyon, Gholson J