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

A homozygous variant in cardiac troponin I3, TNNI3, causes severe pediatric restrictive cardiomyopathy

心肌肌钙蛋白I3(TNNI3)的纯合变异会导致严重的儿童限制性心肌病。

Kühnisch, Jirko; Barnett, Cara L; Brendel, Josephine; Berklite, Lara; Villa, Chet; Seifert, Wenke; Klaassen, Sabine; Klingel, Karin; Weaver, K Nicole

Complete glucocorticoid resistance: a lethal disorder in the neonatal period

完全性糖皮质激素抵抗:新生儿期的一种致命性疾病

Segev, Natalie; Swauger, Sarah; Weaver, K Nicole; Jain, Shipra; Patel, Kalyani R; Backeljauw, Philippe

Role of CAMK2D in neurodevelopment and associated conditions

CAMK2D在神经发育及相关疾病中的作用

Rigter, Pomme M F; de Konink, Charlotte; Dunn, Matthew J; Proietti Onori, Martina; Humberson, Jennifer B; Thomas, Matthew; Barnes, Caitlin; Prada, Carlos E; Weaver, K Nicole; Ryan, Thomas D; Caluseriu, Oana; Conway, Jennifer; Calamaro, Emily; Fong, Chin-To; Wuyts, Wim; Meuwissen, Marije; Hordijk, Eva; Jonkers, Carsten N; Anderson, Lucas; Yuseinova, Berfin; Polonia, Sarah; Beysen, Diane; Stark, Zornitza; Savva, Elena; Poulton, Cathryn; McKenzie, Fiona; Bhoj, Elizabeth; Bupp, Caleb P; Bézieau, Stéphane; Mercier, Sandra; Blevins, Amy; Wentzensen, Ingrid M; Xia, Fan; Rosenfeld, Jill A; Hsieh, Tzung-Chien; Krawitz, Peter M; Elbracht, Miriam; Veenma, Danielle C M; Schulman, Howard; Stratton, Margaret M; Küry, Sébastien; van Woerden, Geeske M

Genetic activation of ERK2 recapitulates core neurodevelopmental features of Rasopathy syndromes in mice

ERK2基因激活可在小鼠中重现Rasopathy综合征的核心神经发育特征。

Grover, Kassidy E; Cappel, Zoe R; Volz, Avery; Cotella, Evelin M; Smallwood, Kelly; Berryhill, Christine A; Raje, Kimaya R; Fisher, Austen A; Casper, Mary Claire T; Nardini, Diana; Rizvi, Tilat A; Salazar, Rosa M; Wooten, Ashley; Williams, Michael T; Vorhees, Charles V; Romick, Lindsey E; Greis, Kenneth D; Hu, Yueh-Chiang; Miles, Linde A; Angus, Steven P; Ratner, Nancy; Prada, Carlos E; Weaver, K Nicole; Waclaw, Ronald R; Robinson, J Elliott

Role of CAMK2D in neurodevelopment and associated conditions

CAMK2D在神经发育及相关疾病中的作用

Rigter, Pomme M F; de Konink, Charlotte; Dunn, Matthew J; Proietti Onori, Martina; Humberson, Jennifer B; Thomas, Matthew; Barnes, Caitlin; Prada, Carlos E; Weaver, K Nicole; Ryan, Thomas D; Caluseriu, Oana; Conway, Jennifer; Calamaro, Emily; Fong, Chin-To; Wuyts, Wim; Meuwissen, Marije; Hordijk, Eva; Jonkers, Carsten N; Anderson, Lucas; Yuseinova, Berfin; Polonia, Sarah; Beysen, Diane; Stark, Zornitza; Savva, Elena; Poulton, Cathryn; McKenzie, Fiona; Bhoj, Elizabeth; Bupp, Caleb P; Bézieau, Stéphane; Mercier, Sandra; Blevins, Amy; Wentzensen, Ingrid M; Xia, Fan; Rosenfeld, Jill A; Hsieh, Tzung-Chien; Krawitz, Peter M; Elbracht, Miriam; Veenma, Danielle C M; Schulman, Howard; Stratton, Margaret M; Küry, Sébastien; van Woerden, Geeske M

Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome.

对哈迪卡综合征的表型谱和发病机制的新见解

Strong Alanna, March Michael E, Cardinale Christopher J, Liu Yichuan, Battig Mark R, Finoti Livia Sertori, Matsuoka Leticia S, Watson Deborah, Sridhar Sindura, Jarrett James F, Cannon India, Li Dong, Bhoj Elizabeth, Zackai Elaine H, Rand Elizabeth B, Wenger Tara, Lerman Bruce B, Shikany Amy, Weaver K Nicole, Hakonarson Hakon

Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome

扩展1型神经纤维瘤病微缺失综合征的表型

Garzon, Jenny P; Patete, Andrea; Aschbacher-Smith, Lindsey; Qu'd, Dima; Kelly-Mancuso, Geraldine; Raski, Carolyn R; Weisman, Allison Goetsch; Hankins, Madison; Sawin, Michael; Kim, Katherine; Drackley, Andy; Zeid, Janice; Weaver, K Nicole; Hopkin, Robert J; Saal, Howard M; Charrow, Joel; Schorry, Elizabeth; Listernick, Robert; Simpson, Brittany N; Prada, Carlos E

Estimating prevalence of rare genetic disease diagnoses using electronic health records in a children's hospital

利用儿童医院电子健康记录估算罕见遗传病诊断的患病率

Herr, Kate; Lu, Peixin; Diamreyan, Kessi; Xu, Huan; Mendonca, Eneida; Weaver, K Nicole; Chen, Jing

Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies

RAS病患者的颅缝早闭的产前和婴儿期诊断

Serbinski, Carolyn R; Vanderwal, April; Chadwell, Sarah E; Sanchez, Ana Isabel; Hopkin, Robert J; Hufnagel, Robert B; Weaver, K Nicole; Prada, Carlos E

Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller-Dieker syndrome

进一步扩展和确认罕见的YWHAE基因缺失表型,该缺失与米勒-迪克综合征不同。

Baker, Elizabeth K; Brewer, Casey J; Ferreira, Leonardo; Schapiro, Mark; Tenney, Jeffrey; Wied, Heather M; Kline-Fath, Beth M; Smolarek, Teresa A; Weaver, K Nicole; Hopkin, Robert J