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

SAT-298 Integrative Single-Cell Transcriptomic and Epigenomic Landscape of Mouse Anterior Pituitary Cell Types

SAT-298 小鼠垂体前叶细胞类型的整合单细胞转录组和表观基因组图谱

Kelberman, Daniel; de Castro, Sandra C P; Huang, Shuwen; Crolla, John A; Palmer, Rodger; Gregory, John W; Taylor, David; Cavallo, Luciano; Faienza, Maria F; Fischetto, Rita; Achermann, John C; Martinez-Barbera, Juan Pedro; Rizzoti, Karine; Lovell-Badge, Robin; Robinson, Iain C A F; Gerrelli, Dianne; Dattani, Mehul T; Ruf-Zamojski, Frederique Murielle; Zamojski, Michel A; Nudelman, German; Ge, Yongchao; Mendelev, Natalia; Smith, Gregory R; Zhou, Xiang; Toufaily, Chirine; Schang, Gauthier; Gambino, Luisina Ongaro; Liu, Hanqing; Gomez Castanon, Rosa G; Moriwaki, Mika; Nair, Venugopalan; Pincas, Hanna; Nery, Joseph R; Bartlett, Anna; Alridge, Andrew; Odle, Angela Katherine; Childs, Gwen V; Turgeon, Judith L; Welt, Corrine Kolka; Ecker, Joseph R; Bernard, Daniel J; Sealfon, Stuart C

Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum

人类小脑发育过程中初级祖细胞区的时空扩张

Haldipur, Parthiv; Aldinger, Kimberly A; Bernardo, Silvia; Deng, Mei; Timms, Andrew E; Overman, Lynne M; Winter, Conrad; Lisgo, Steven N; Razavi, Ferechte; Silvestri, Evelina; Manganaro, Lucia; Adle-Biassette, Homa; Guimiot, Fabien; Russo, Rosa; Kidron, Debora; Hof, Patrick R; Gerrelli, Dianne; Lindsay, Susan J; Dobyns, William B; Glass, Ian A; Alexandre, Paula; Millen, Kathleen J

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

FBXW11基因的新生错义变异导致多种发育表型,包括脑、眼和手指异常。

Holt, Richard J; Young, Rodrigo M; Crespo, Berta; Ceroni, Fabiola; Curry, Cynthia J; Bellacchio, Emanuele; Bax, Dorine A; Ciolfi, Andrea; Simon, Marleen; Fagerberg, Christina R; van Binsbergen, Ellen; De Luca, Alessandro; Memo, Luigi; Dobyns, William B; Mohammed, Alaa Afif; Clokie, Samuel J H; Zazo Seco, Celia; Jiang, Yong-Hui; Sørensen, Kristina P; Andersen, Helle; Sullivan, Jennifer; Powis, Zöe; Chassevent, Anna; Smith-Hicks, Constance; Petrovski, Slavé; Antoniadi, Thalia; Shashi, Vandana; Gelb, Bruce D; Wilson, Stephen W; Gerrelli, Dianne; Tartaglia, Marco; Chassaing, Nicolas; Calvas, Patrick; Ragge, Nicola K

Redefining the Etiologic Landscape of Cerebellar Malformations

重新定义小脑畸形的病因学格局

Aldinger, Kimberly A; Timms, Andrew E; Thomson, Zachary; Mirzaa, Ghayda M; Bennett, James T; Rosenberg, Alexander B; Roco, Charles M; Hirano, Matthew; Abidi, Fatima; Haldipur, Parthiv; Cheng, Chi V; Collins, Sarah; Park, Kaylee; Zeiger, Jordan; Overmann, Lynne M; Alkuraya, Fowzan S; Biesecker, Leslie G; Braddock, Stephen R; Cathey, Sara; Cho, Megan T; Chung, Brian H Y; Everman, David B; Zarate, Yuri A; Jones, Julie R; Schwartz, Charles E; Goldstein, Amy; Hopkin, Robert J; Krantz, Ian D; Ladda, Roger L; Leppig, Kathleen A; McGillivray, Barbara C; Sell, Susan; Wusik, Katherine; Gleeson, Joseph G; Nickerson, Deborah A; Bamshad, Michael J; Gerrelli, Dianne; Lisgo, Steven N; Seelig, Georg; Ishak, Gisele E; Barkovich, A James; Curry, Cynthia J; Glass, Ian A; Millen, Kathleen J; Doherty, Dan; Dobyns, William B

Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development

黑皮质素-1受体(MC1R)系统的广泛动态和多效性表达在鸡、小鼠和人类胚胎发育过程中得到保留

Anna C Thomas, Pauline Heux, Chloe Santos, Wisenave Arulvasan, Nita Solanky, Magalie E Carey, Dianne Gerrelli, Veronica A Kinsler, Heather C Etchevers

Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome

整合基因组和转录组测序确定基因组复制因子 DONSON 中的非编码突变是导致小头畸形-小肢畸形综合征的原因

Gilad D Evrony, Dwight R Cordero, Jun Shen, Jennifer N Partlow, Timothy W Yu, Rachel E Rodin, R Sean Hill, Michael E Coulter, Anh-Thu N Lam, Divya Jayaraman, Dianne Gerrelli, Diana G Diaz, Chloe Santos, Victoria Morrison, Antonella Galli, Ulrich Tschulena, Stefan Wiemann, M Jocelyne Martel, Betty Sp

A genomic atlas of human adrenal and gonad development

人类肾上腺和性腺发育的基因组图谱

Ignacio Del Valle, Federica Buonocore, Andrew J Duncan, Lin Lin, Martino Barenco, Rahul Parnaik, Sonia Shah, Mike Hubank, Dianne Gerrelli, John C Achermann

Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis

CPAMD8基因突变导致一种独特的常染色体隐性遗传性前段发育不全

Cheong, Sek-Shir; Hentschel, Lisa; Davidson, Alice E; Gerrelli, Dianne; Davie, Rebecca; Rizzo, Roberta; Pontikos, Nikolas; Plagnol, Vincent; Moore, Anthony T; Sowden, Jane C; Michaelides, Michel; Snead, Martin; Tuft, Stephen J; Hardcastle, Alison J

HDBR Expression: A Unique Resource for Global and Individual Gene Expression Studies during Early Human Brain Development

HDBR表达:早期人类大脑发育过程中全局和个体基因表达研究的独特资源

Lindsay, Susan J; Xu, Yaobo; Lisgo, Steven N; Harkin, Lauren F; Copp, Andrew J; Gerrelli, Dianne; Clowry, Gavin J; Talbot, Aysha; Keogh, Michael J; Coxhead, Jonathan; Santibanez-Koref, Mauro; Chinnery, Patrick F

Distinct expression patterns for type II topoisomerases IIA and IIB in the early foetal human telencephalon

早期胎儿人类端脑中II型拓扑异构酶IIA和IIB的不同表达模式

Harkin, Lauren F; Gerrelli, Dianne; Gold Diaz, Diana C; Santos, Chloe; Alzu'bi, Ayman; Austin, Caroline A; Clowry, Gavin J