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

Impact of Hereditary Cancer Susceptibility in Solid-Organ Transplant Recipients

遗传性癌症易感性对实体器官移植受者的影响

Khuu, Nicholas; Jeanjean, Marie; Donenberg, Talia; Silva Smith, Rachel; Sussman, Daniel; Vianna, Rodrigo; Ciancio, Gaetano; Guo, Yan; Tekin, Mustafa; Borja, Nicholas A

Determinants of mortality following intertrochanteric fractures, comorbidities versus reduction quality: retrospective cohort study

股骨粗隆间骨折后死亡率的决定因素:合并症与复位质量:回顾性队列研究

Kundakci, Bugra; Altoroev, Talantbek; Dalkir, Kaan Ali; Olke, Hakkı Can; Mirioglu, Akif; Bicer, Omer Sunkar; Tekin, Mustafa; Bagir, Melih; Arslan, Yusuf Kemal

Transcriptome-wide outlier approach identifies individuals with minor spliceopathies

全转录组异常值方法识别患有轻微剪接异常的个体

Arriaga, Taylor M; Mendez, Rodrigo; Ungar, Rachel A; Bonner, Devon E; Matalon, Dena R; Lemire, Gabrielle; Goddard, Pagé C; Padhi, Evin M; Miller, Alexander M; Nguyen, Jonathan V; Ma, Jialan; Smith, Kevin S; Scott, Stuart A; Liao, Linda; Ng, Zena; Marwaha, Shruti; Bademci, Guney; Bivona, Stephanie A; Tekin, Mustafa; Bernstein, Jonathan A; Montgomery, Stephen B; O'Donnell-Luria, Anne; Wheeler, Matthew T; Ganesh, Vijay S

A clinical and genotype-phenotype analysis of MACF1 variants

MACF1变异体的临床和基因型-表型分析

Dekker, Jordy; Schot, Rachel; Aldinger, Kimberly A; Everman, David B; Washington, Camerun; Jones, Julie R; Sullivan, Jennifer A; Spillmann, Rebecca C; Shashi, Vandana; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Mosca-Boidron, Anne-Laure; Perrin, Laurence; Auvin, Stéphane; Zaki, Maha S; Gleeson, Joseph G; Meave, Naomi; Wallace, Cassidy; Nambot, Sophie; Delanne, Julian; Ruggiero, Sarah M; Helbig, Ingo; Fitzgerald, Mark P; Leventer, Richard J; Grange, Dorothy K; Argilli, Emanuela; Sherr, Elliott H; Prakash, Supraja; Neilson, Derek E; Nicita, Francesco; Sferra, Antonella; Bertini, Enrico S; Aiello, Chiara; Brockmann, Knut; Kuranov, Alexander B; Kaulfuss, Silke; Basit, Sulman; Alluqmani, Majed; Almatrafi, Ahmad; Friedman, Jan M; Guimond, Colleen; Mohammed, Faruq; Sharma, Pooja; Goel, Divya; Wirth, Thomas; Anheim, Mathieu; Bahena, Paulina; Koparir, Asuman; Kolokotronis, Konstantinos; Vona, Barbara; Haaf, Thomas; Kunstmann, Erdmute; Maroofian, Reza; Sczakiel, Henrike L; Boschann, Felix; Misra-Isrie, Mala; Louie, Raymond J; Stolerman, Elliot S; Sanchez-Lara, Pedro A; Mergler, Sandra; Oegema, Renske; Zarate, Yuri A; Kariminejad, Ariana; Tajsharghi, Homa; Zeidler, Shimriet; Kievit, Anneke J A; Bouman, Arjan; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Stuurman, Kyra E; Swols, Dayna Morel; Tekin, Mustafa; Upadia, Jariya; Martin, Donna M; Craven, Daniel; Hiatt, Susan M; van de Pol, Laura A; D'Arco, Felice; Margot, Henri; Wilke, Martina; Yousefi, Soheil; Barakat, Tahsin Stefan; van Veghel-Plandsoen, Monique M; Aronica, Eleonora; Anink, Jasper; Rogers, Stephen L; Slep, Kevin C; Doherty, Dan; Dobyns, William B; Mancini, Grazia M S

De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms

CDKL1 和 CDKL2 的新生变异与神经发育症状相关

Bereshneh, Ali H; Andrews, Jonathan C; Eberl, Daniel F; Bademci, Guney; Borja, Nicholas A; Bivona, Stephanie; Chung, Wendy K; Yamamoto, Shinya; Wangler, Michael F; McKee, Shane; Tekin, Mustafa; Bellen, Hugo J; Kanca, Oguz

A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort

利用全基因组方法在未确诊疾病网络队列中发现新的重复序列扩增疾病

Fazal, Sarah; Dashnow, Harriet; Dohrn, Maike F; Raposo, Jacquelyn; Hiatt, Laurel; Danzi, Matt C; Xu, Isaac R L; Toro, Camilo; Adams, David R; Usdin, Karen; Hayward, Bruce; Kobren, Shilpa Nadimpalli; Sunyaev, Shamil R; Spillmann, Rebecca C; Shashi, Vandana; Rebelo, Adriana; Bademci, Guney; Tekin, Mustafa; Quinlan, Aaron R; Zuchner, Stephan

Glucocorticoid treatment rescues early lethality in a mouse model of geleophysic dysplasia

糖皮质激素治疗可挽救胶状骨发育不良小鼠模型的早期死亡

Morales, Alejo Antonio; Camarena, Vladimir; Walz, Katherina; Wang, Gaofeng; Tekin, Mustafa

Genome sequencing reveals novel variants in a diverse population with congenital anterior segment anomalies

基因组测序揭示了具有先天性前段异常的多元化人群中的新变异

Hussain, Ashraf; Villalba, Maria Fernanda; Swols, Dayna Morel; Khzam, Rayan Abou; Johnson, Brittney Keira; Peart, LéShon; D'Haiti, Sarha; Grajewski, Alana L; Tekin, Mustafa; Chang, Ta Chen; Bademci, Guney

Dysregulation of cell migration by matrix metalloproteinases in geleophysic dysplasia.

基质金属蛋白酶在胶状骨发育不良中导致细胞迁移失调

Morales Alejo A, Camarena Vladimir, Peart LéShon, Smithson Sarah, Shaw Lindsay, Webber Lucy, Negron Jose M, Sola Juan E, Brady Ann-Christina, Walz Katherina, Wang Gaofeng, Tekin Mustafa

KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3

KIF21A相关周围神经病变定义为与TUBB3结合受损

Borja, Nicholas A; Zafeer, Mohammad Faraz; Bivona, Stephanie; Peart, LéShon; Gultekin, Sakir Humayun; Bademci, Guney; Tekin, Mustafa