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

De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders

剪接因子基因SF3B1的新生变异与神经发育障碍相关。

Uguen, Kevin; Bergot, Tiffany; Scott-Boyer, Marie-Pier; Chapalain, Solène; Desdouets, Camille; Commet, Séverine; Zhu, Changlian; Xu, Yiran; Wang, Yangong; Roscioli, Tony; Tran-Mau-Them, Frederic; Faivre, Laurence; Maraval, Julien; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Vitobello, Antonio; Jost, Céline; Planes, Marc; Hiatt, Susan; Wheeler, Patricia; Gonzaga-Jauregui, Claudia; Wang, Heng; Xin, Baozhong; Sency, Valerie; Kruer, Michael C; Bakhtiari, Somayeh; Sulem, Patrick; Curry, Cynthia; Prescott, Trine; Strobl-Wildemann, Gertrud; Brunet, Theresa; Doco Fenzy, Martine; Courtin, Thomas; Poirsier, Céline; Bjørg Hammer, Trine; Fenger, Christina D; MacPherson, Melissa; Izumi, Kosuke; Leonard, Jacqueline; Li, Dong; Zackai, Elaine H; Glass, Ian A; Ward, Scott; Campeau, Philippe M; Borroto, Maria Carla Hermida; Le Moigno, Laurence; Van Esch, Hilde; De Waele, Liesbeth; Calame, Daniel G; Lupski, James R; Barcia, Giulia; Peduto, Cristina; Planté-Bordeneuve, Pauline; Dupuis, Lucie; Mendoza-Londono, Roberto; Stavropoulos, Dimitri J; Gillibert-Duplantier, Jennifer; Besnard, Thomas; Do Souto Ferreira, Laura; Cogné, Benjamin; Bézieau, Stéphane; Droit, Arnaud; Corcos, Laurent; Lippert, Eric; Férec, Claude; Küry, Sebastien; Bernard, Delphine G

Optical mapping in Black genomes: Distinct LCR22 structures and 22q11.2 deletion syndrome mechanisms

黑人基因组的光学图谱:独特的LCR22结构和22q11.2缺失综合征机制

Pastor, Steven; Tran, Oanh; Lapointe, Ryan; Olali, Arnold Z; Wallace, Douglas C; Morrow, Bernice; Zackai, Elaine H; McDonald-McGinn, Donna M; Emanuel, Beverly S

22q11.2 Deletion Syndrome in Offspring Conceived via Assisted Reproductive Technology Versus Spontaneously

通过辅助生殖技术受孕的后代与自然受孕的后代中22q11.2缺失综合征的发生率

Borowka, Jennifer; Crowley, Terrence Blaine; Mani, Ashika; Guinta, Victoria; McGinn, Daniel E; Wang, Bekah; Green, Audrey; Rockart, Lydia; Tran, Oanh; Emanuel, Beverly S; Zackai, Elaine H; Dugoff, Lorraine; Valverde, Kathleen; McDonald-McGinn, Donna M

Prenatally Diagnosed Beare-Stevenson Cutis Gyrata Syndrome With a Novel FGFR2 Variant

产前诊断的Beare-Stevenson皮肤回状综合征伴新型FGFR2变异

Crane, Haley M; Giardine, Rose; Strong, Alanna; Wild, K Taylor; Zackai, Elaine; Dugoff, Lorraine; Sparks, Teresa N; Coleman, Beverly; Moldenhauer, Julie S

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22-23 Deletions

远端22q11.22-23染色体缺失个体先天性心脏病的患病率和谱系

Nelson, Tanner J; McGinn, Daniel E; Crowley, T Blaine; Rockart, Lydia; Green, Audrey; Giunta, Victoria; Tran, Oanh; Miller, Daniella; Breckpot, Jeroen; Swillen, Ann; Digilio, M Cristina; Unolt, Marta; Putotto, Carolina; Pulvirenti, Federica; Marino, Bruno; Emanuel, Beverly S; Zackai, Elaine H; Zhang, Zhengdong D; Goldmuntz, Elizabeth; Boot, Erik; Bassett, Anne S; Morrow, Bernice E; McDonald-McGinn, Donna M

Charting Brain Structure in 22q11.2 Deletion Syndrome with Clinical Neuroimaging

利用临床神经影像学绘制22q11.2缺失综合征的脑结构图

Jung, Benjamin; Schmitt, J Eric; Seidlitz, Jakob; Schabdach, Jenna M; Karandikar, Shivaram; Crowley, T Blaine; Dorfschmidt, Lena; Mandal, Ayan S; Zimmerman, Dabriel; Williams, Remo M S; Prem, Smrithi; Levitis, Elizabeth; Gardner, Margaret; Cyr, Katherine; Padmanabhan, Viveknarayanan; Taylor, Jerome H; Ruparel, Kosha; Boen, Rune; Bearden, Carrie E; Ching, Christopher R K; Pasaniuc, Bogdan; Anderson, Stewart; McGinn, Daniel; Zackai, Elaine; Emanuel, Beverly; Hopkins, Sarah; Chadehumbe, Madeline; Low, Karen J; Cole, Tim J; Bethlehem, Richard A I; Shinohara, R Taki; Gaynor, J William; Roalf, David R; Gur, Raquel E; McDonald-McGinn, Donna M; Alexander-Bloch, Aaron

Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome

22q11.2缺失综合征患者的缺失大小和背景遗传变异影响先天性心脏病表型,共纳入3016例患者。

Lin, Jhih-Rong; Miller, Daniella; Luong, Dana; Nelson, Tanner; Crowley, T Blaine; Tran, Oanh T; Thiruvahindrapuram, Bhooma; Hajianpour, Amirhossein; Campbell, Linda; Busa, Tiffany; Heine-Suñer, Damian; García-Miñaúr, Sixto; Fernández, Luis; Murphy, Kieran C; Murphy, Declan; Hawula, Wanda; Angkustsiri, Kathleen; Shashi, Vandana; Schoch, Kelly; Bearden, Carrie E; Tomita Mitchell, Aoy; Mitchell, Michael E; Carmel, Miri; Weizman, Abraham; Michaelovsky, Elena; Gothelf, Doron; van den Bree, Marianne B M; Owen, Michael J; Vorstman, Jacob A S; Boot, Erik; Vingerhoets, Claudia; van Amelsvoort, Therese; Swillen, Ann; Breckpot, Jeroen; Vermeesch, Joris R; Devriendt, Koen; Schneider, Maude; Eliez, Stephan; Digilio, M Cristina; Unolt, Marta; Putotto, Carolina; Marino, Bruno; Pontillo, Maria; Armando, Marco; Vicari, Stefano; Repetto, Gabriela M; Kates, Wendy R; Shprintzen, Robert J; Gur, Raquel E; Zackai, Elaine H; Goldmuntz, Elizabeth; Wang, Tao; Raj, Srilakshmi; Emanuel, Beverly S; McDonald-McGinn, Donna M; Scherer, Stephen C; Bassett, Anne S; Zhang, Zhengdong D; Morrow, Bernice E

ZNF280A links DNA double-strand break repair to human 22q11.2 distal deletion syndrome

ZNF280A 将 DNA 双链断裂修复与人类 22q11.2 远端缺失综合征联系起来

Clarke, Thomas L; Cho, Hyo Min; Ceppi, Ilaria; Gao, Boya; Yadav, Tribhuwan; Silveira, Giorgia G; Boon, Ruben; Martinez-Pastor, Barbara; Amoh, Nana Yaa A; Machin, Belen; Bernasocchi, Tiziano; Ashfaq, Dua; Mendez, Josefina; Kamaliyan, Zeeba; Del Río Pantoja, José; Rogines, Giuliana Sardi; Crowley, Blaine T; McGinn, Daniel E; Giunta, Victoria; Tran, Oanh; Zackai, Elaine H; Lan, Li; Zou, Lee; Emanuel, Beverly S; McDonald-McGinn, Donna M; Cejka, Petr; Mostoslavsky, Raul

Modeling the long-range effect of an inversion downstream of EFNB1 concludes a 43-year molecular diagnostic odyssey for craniofrontonasal syndrome

通过模拟EFNB1下游倒位的长程效应,我们结束了长达43年的颅额鼻综合征分子诊断历程。

Li, Dong; Matsuoka, Leticia S; Donoghue, Sarah; Hou, Cuiping; Strong, Alanna; McDonald-McGinn, Donna M; Whitaker, Linton; Taylor, Jesse; Bhoj, Elizabeth J; Hakonarson, Hakon; Zackai, Elaine H

Sleep difficulties related to psychopathology and neurocognition in people with 22q11.2 deletion syndrome

22q11.2缺失综合征患者的睡眠障碍与精神病理学和神经认知有关

Souders, Margaret C; McDonald-McGinn, Donna M; Ruparel, Kosha; Moore, Tyler M; Tang, Sunny X; Calkins, Monica E; Zackai, Elaine H; Gur, Ruben C; Emanuel, Beverly S; Gur, Raquel E