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

Is 7p14.1 an orofacial cleft risk locus? Genome-wide study of copy number variation in multiple populations provides both a replication of previous studies and an alternative explanation

7p14.1是唇腭裂风险位点吗?对多个群体拷贝数变异的全基因组研究既重复了之前的研究结果,也提供了一种新的解释。

Mukhopadhyay, Nandita; Feingold, Eleanor E; Brand, Harrison; Lee, Myoung Keun; Kurtas, Edibe Nehir; Sanchis-Juan, Alba; Moreno-Uribe, Lina; Wehby, George; Valencia-Ramirez, Luz Consuelo; Muñeton, Claudia P Restrepo; Padilla, Carmencita; Deleyiannis, Frederic; Poletta, Fernando A; Orioli, Ieda M; Hecht, Jacqueline T; Buxó, Carmen J; Butali, Azeez; Adeyemo, Wasiu L; Abebe, Mekonen Eshete; Vieira, Alexandre R; Shaffer, John R; Murray, Jeffrey C; Weinberg, Seth M; Ruczinski, Ingo; Leslie-Clarkson, Elizabeth J; Marazita, Mary L

STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci

STRchive:一个动态资源,详细介绍串联重复疾病位点的群体水平和位点特异性见解

Hiatt, Laurel; Weisburd, Ben; Dolzhenko, Egor; Rubinetti, Vincent; Avvaru, Akshay K; VanNoy, Grace E; Kurtas, Nehir Edibe; Rehm, Heidi L; Quinlan, Aaron R; Dashnow, Harriet

Polymorphic tandem repeats influence cell type-specific gene expression across the human immune landscape.

多态性串联重复序列影响人类免疫系统中细胞类型特异性基因表达。

Tanudisastro Hope A, Cuomo Anna S E, Weisburd Ben, Welland Matthew, Spenceley Eleanor, Franklin Michael, Xue Angli, Bowen Blake, Wing Kristof, Tang Owen, Gray Michael, Reis Andre L M, Margoliash Jonathan, Kurtas Nehir E, Pullin Jeffrey M, Lee Arthur S, Brand Harrison, Harper Michael, Bobowik Katalina, Silk Michael, Marshall John, Bakiris Vivian, Madala Bindu Swapna, Uren Caitlin, Bartie Caitlin, Senabouth Anne, Dashnow Harriet, Fearnley Liam, Martin-Trujillo Alejandro, Dolzhenko Egor, Qiao Zhen, Grieve Stuart M, Nguyen Tung, Ben-David Eyal, Chen Ling, Farh Kyle Kai-How, Talkowski Michael, Alexander Stephen I, Siggs Owen M, Gruenschloss Leonhard, Nicholas Hannah R, Piscionere Jennifer, Simons Cas, Wallace Chris, Gymrek Melissa, Deveson Ira W, Hewitt Alex W, Figtree Gemma A, de Lange Katrina M, Powell Joseph E, MacArthur Daniel G

Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies

系统评价基因组测序在自闭症谱系障碍和胎儿结构异常诊断中的应用

Lowther, Chelsea; Valkanas, Elise; Giordano, Jessica L; Wang, Harold Z; Currall, Benjamin B; O'Keefe, Kathryn; Pierce-Hoffman, Emma; Kurtas, Nehir E; Whelan, Christopher W; Hao, Stephanie P; Weisburd, Ben; Jalili, Vahid; Fu, Jack; Wong, Isaac; Collins, Ryan L; Zhao, Xuefang; Austin-Tse, Christina A; Evangelista, Emily; Lemire, Gabrielle; Aggarwal, Vimla S; Lucente, Diane; Gauthier, Laura D; Tolonen, Charlotte; Sahakian, Nareh; Stevens, Christine; An, Joon-Yong; Dong, Shan; Norton, Mary E; MacKenzie, Tippi C; Devlin, Bernie; Gilmore, Kelly; Powell, Bradford C; Brandt, Alicia; Vetrini, Francesco; DiVito, Michelle; Sanders, Stephan J; MacArthur, Daniel G; Hodge, Jennelle C; O'Donnell-Luria, Anne; Rehm, Heidi L; Vora, Neeta L; Levy, Brynn; Brand, Harrison; Wapner, Ronald J; Talkowski, Michael E

Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes

Hi-C 与短读长和长读长基因组测序相结合,揭示了生殖系重排基因组的结构。

Schöpflin, Robert; Melo, Uirá Souto; Moeinzadeh, Hossein; Heller, David; Laupert, Verena; Hertzberg, Jakob; Holtgrewe, Manuel; Alavi, Nico; Klever, Marius-Konstantin; Jungnitsch, Julius; Comak, Emel; Türkmen, Seval; Horn, Denise; Duffourd, Yannis; Faivre, Laurence; Callier, Patrick; Sanlaville, Damien; Zuffardi, Orsetta; Tenconi, Romano; Kurtas, Nehir Edibe; Giglio, Sabrina; Prager, Bettina; Latos-Bielenska, Anna; Vogel, Ida; Bugge, Merete; Tommerup, Niels; Spielmann, Malte; Vitobello, Antonio; Kalscheuer, Vera M; Vingron, Martin; Mundlos, Stefan

A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies

以遗传学为先导的方法揭示了ARM和VACTERL畸形患者的单基因疾病

van de Putte, Romy; Dworschak, Gabriel C; Brosens, Erwin; Reutter, Heiko M; Marcelis, Carlo L M; Acuna-Hidalgo, Rocio; Kurtas, Nehir E; Steehouwer, Marloes; Dunwoodie, Sally L; Schmiedeke, Eberhard; Märzheuser, Stefanie; Schwarzer, Nicole; Brooks, Alice S; de Klein, Annelies; Sloots, Cornelius E J; Tibboel, Dick; Brisighelli, Giulia; Morandi, Anna; Bedeschi, Maria F; Bates, Michael D; Levitt, Marc A; Peña, Alberto; de Blaauw, Ivo; Roeleveld, Nel; Brunner, Han G; van Rooij, Iris A L M; Hoischen, Alexander

Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?

先天性染色体碎裂症中涉及额外非染色体碎裂染色体的插入易位:是规律还是例外?

Kurtas, Nehir Edibe; Xumerle, Luciano; Giussani, Ursula; Pansa, Alessandra; Cardarelli, Laura; Bertini, Veronica; Valetto, Angelo; Liehr, Thomas; Clara Bonaglia, Maria; Errichiello, Edoardo; Delledonne, Massimo; Zuffardi, Orsetta

Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome)

染色体碎裂和22号环状染色体:费兰-麦克德米德综合征(22q13缺失综合征)中基因组复杂性的范例

Kurtas, Nehir; Arrigoni, Filippo; Errichiello, Edoardo; Zucca, Claudio; Maghini, Cristina; D'Angelo, Maria Grazia; Beri, Silvana; Giorda, Roberto; Bertuzzo, Sara; Delledonne, Massimo; Xumerle, Luciano; Rossato, Marzia; Zuffardi, Orsetta; Bonaglia, Maria Clara

A descriptive study of medical malpractice cases in Turkey

土耳其医疗事故案例描述性研究

Gundogmus, Umit N; Erdogan, Mehmet S; Sehiralti, Mine; Kurtas, Omer