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

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B

由eIF3复合物组成基因EIF3A和EIF3B的功能缺失变异引起的心血管、颅面和神经发育障碍

Erkut, Esra; Somerville, Cherith; Schwartz, Marci L B; McDonald, Laura; Ding, Qiliang; Moran, Olivia M; Chen, Xin; Manshaei, Roozbeh; Riedijk, Anne-Sophie; Schnürer, Marie-Therese; Koboldt, Daniel C; Antonarakis, Stylianos E; Bedoukian, Emma C; Blanc, Xavier; Conlin, Laura K; Cox, Helen; Diderich, Karin E M; Dingmann, Bri; Dubourg, Christèle; Elmslie, Frances; Escobar, Luis F; Gosselin, Rachel; Guillen Sacoto, Maria J; Haag, Cynthia D; Herzig, Lisa; Jeeneea, Ramanand; Kenia, Priti; Kolokotronis, Konstantinos; Kopps, Anna M; Kupper, Christin; Lees, Hayley; Leonard, Jacqueline; Levy, Jonathan; Littlejohn, Rebecca; Mayer, Demian; McBride, Kim L; McLean, Scott D; Pattani, Nikhil; Perrin, Laurence; Pingault, Véronique; Quelin, Chloé; Ranza, Emmanuelle; Rauch, Anita; Reichert, Sara L; Rosmaninho-Salgado, Joana; Skraban, Cara; Sousa, Sérgio; Stuebben, Melissa; Zanoni, Paolo; Kim, Raymond H; Scott, Ian C; Jobling, Rebekah K

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B

由eIF3复合物组成基因EIF3A和EIF3B的功能缺失变异引起的心血管、颅面和神经发育障碍

Erkut, Esra; Somerville, Cherith; Schwartz, Marci L B; McDonald, Laura; Ding, Qiliang; Moran, Olivia M; Chen, Xin; Manshaei, Roozbeh; Riedijk, Anne-Sophie; Schnürer, Marie-Therese; Koboldt, Daniel C; Antonarakis, Stylianos E; Bedoukian, Emma C; Blanc, Xavier; Conlin, Laura K; Cox, Helen; Diderich, Karin E M; Dingmann, Bri; Dubourg, Christèle; Elmslie, Frances; Escobar, Luis F; Gosselin, Rachel; Guillen Sacoto, Maria J; Haag, Cynthia D; Herzig, Lisa; Jeeneea, Ramanand; Kenia, Priti; Kolokotronis, Konstantinos; Kopps, Anna M; Kupper, Christin; Lees, Hayley; Leonard, Jacqueline; Levy, Jonathan; Littlejohn, Rebecca; Mayer, Demian; McLean, Scott D; Pattani, Nikhil; Perrin, Laurence; Pingault, Véronique; Quelin, Chloé; Ranza, Emmanuelle; Rauch, Anita; Reichert, Sara L; Rosmaninho-Salgado, Joana; Skraban, Cara; Sousa, Sérgio; Stuebben, Melissa; Zanoni, Paolo; Kim, Raymond H; Scott, Ian C; Jobling, Rebekah K

De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay

预测DIP2C单倍体功能不全的新生变异与表达性语言发育迟缓相关。

Ha, Thoa; Morgan, Angela; Bartos, Meghan N; Beatty, Katelyn; Cogné, Benjamin; Braun, Dominique; Gerber, Céline B; Gaspar, Harald; Kopps, Anna M; Rieubland, Claudine; Hurst, Anna C E; Amor, David J; Nizon, Mathilde; Pasquier, Laurent; Pfundt, Rolph; Reis, André; Siu, Victoria Mok; Tessarech, Marine; Thompson, Michelle L; Vincent, Marie; de Vries, Bert B A; Walsh, Matthew B; Wechsler, Stephanie Burns; Zweier, Christiane; Schnur, Rhonda E; Guillen Sacoto, Maria J; Margot, Henri; Masotto, Barbara; Palafoll, Maria Irene Valenzuela; Nawaz, Urwah; Voineagu, Irina; Slavotinek, Anne

Association patterns and community structure among female bottlenose dolphins: environmental, genetic and cultural factors

雌性宽吻海豚的关联模式和群体结构:环境、遗传和文化因素

Marfurt, Svenja M; Allen, Simon J; Bizzozzero, Manuela R; Willems, Erik P; King, Stephanie L; Connor, Richard C; Kopps, Anna M; Wild, Sonja; Gerber, Livia; Wittwer, Samuel; Krützen, Michael

Is MHC diversity a better marker for conservation than neutral genetic diversity? A case study of two contrasting dolphin populations

MHC多样性是否比中性遗传多样性更适合作为保护指标?以两个对比鲜明的海豚种群为例进行案例研究

Manlik, Oliver; Krützen, Michael; Kopps, Anna M; Mann, Janet; Bejder, Lars; Allen, Simon J; Frère, Celine; Connor, Richard C; Sherwin, William B

Hungarian Marfan family with large FBN1 deletion calls attention to copy number variation detection in the current NGS era

匈牙利马凡氏综合征家族携带大片段FBN1基因缺失,这凸显了当前NGS时代拷贝数变异检测的重要性。

Benke, Kálmán; Ágg, Bence; Meienberg, Janine; Kopps, Anna M; Fattorini, Nathalie; Stengl, Roland; Daradics, Noémi; Pólos, Miklós; Bors, András; Radovits, Tamás; Merkely, Béla; De Backer, Julie; Szabolcs, Zoltán; Mátyás, Gábor

How Well Do Molecular and Pedigree Relatedness Correspond, in Populations with Diverse Mating Systems, and Various Types and Quantities of Molecular and Demographic Data?

在具有不同交配系统、分子和人口统计数据类型和数量的群体中,分子亲缘关系和谱系亲缘关系的对应程度如何?

Kopps, Anna M; Kang, Jungkoo; Sherwin, William B; Palsbøll, Per J

Revisiting telegony: offspring inherit an acquired characteristic of their mother's previous mate

重新审视远祖遗传:后代继承母亲前任配偶的后天特征

Crean, Angela J; Kopps, Anna M; Bonduriansky, Russell

Cultural transmission of tool use combined with habitat specializations leads to fine-scale genetic structure in bottlenose dolphins

工具使用的文化传承与栖息地特化相结合,导致了宽吻海豚精细的遗传结构。

Kopps, Anna M; Ackermann, Corinne Y; Sherwin, William B; Allen, Simon J; Bejder, Lars; Krützen, Michael

Population differentiation and hybridisation of Australian snubfin (Orcaella heinsohni) and Indo-Pacific humpback (Sousa chinensis) dolphins in north-western Australia

澳大利亚西北部澳洲短吻海豚(Orcaella heinsohni)和印度太平洋驼背海豚(Sousa chinensis)的种群分化和杂交

Brown, Alexander M; Kopps, Anna M; Allen, Simon J; Bejder, Lars; Littleford-Colquhoun, Bethan; Parra, Guido J; Cagnazzi, Daniele; Thiele, Deborah; Palmer, Carol; Frère, Celine H