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

Generation of induced pluripotent stem cells from a patient with CHARGE syndrome with athymia, harboring a heterozygous mutation in CHD7.

从患有 CHARGE 综合征且无胸腺的患者体内生成诱导多能干细胞,该患者携带 CHD7 杂合突变。

Zhao Jin, Hu Rong, Lai Kuan Chen, Liu Yaling, Carmichael Gordon G, Martin Donna M, Lai Laijun

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

A novel cardiomyopathy phenotype linked to a CHD7 missense variant.

一种与 CHD7 错义变异相关的新型心肌病表型

Park In Young, Hsu Chih-Wei, Bouazoune Karim, Espindola Christina E, Armond Madeline Hannah McLaughlin, Coarfa Cristian, Grimm Sandra L, Martin James F, Martin Donna M, Walker Cheryl Lyn

CHD7 and SOX2 act in a common gene regulatory network during mammalian semicircular canal and cochlear development

在哺乳动物半规管和耳蜗发育过程中,CHD7 和 SOX2 共同参与一个基因调控网络。

Gao, Jingxia; Skidmore, Jennifer M; Cimerman, Jelka; Ritter, K Elaine; Qiu, Jingyun; Wilson, Lindsey M Q; Raphael, Yehoash; Kwan, Kelvin Y; Martin, Donna M

Practical considerations for reinterpretation of individual genetic variants

对个体基因变异进行重新解读的实用性考量

Appelbaum, Paul S; Berger, Sara M; Brokamp, Elly; Brown, Henry Shelton; Burke, Wylie; Clayton, Ellen Wright; Evans, Barbara J; Hamid, Rizwan; Marchant, Gary E; Martin, Donna M; O'Connor, Bridget C; Pagán, José A; Parens, Erik; Roberts, Jessica L; Rowe, John; Schneider, John; Siegel, Karolynn; Veenstra, David L; Chung, Wendy K

Challenges of variant reinterpretation: Opinions of stakeholders and need for guidelines

变异体重新解读的挑战:利益相关者的意见和指南的必要性

Berger, Sara M; Appelbaum, Paul S; Siegel, Karolynn; Wynn, Julia; Saami, Akilan M; Brokamp, Elly; O'Connor, Bridget C; Hamid, Rizwan; Martin, Donna M; Chung, Wendy K

Loss of the chromatin remodeler CHD7 impacts glial cells and myelination in the mouse cochlear spiral ganglion

染色质重塑因子CHD7的缺失会影响小鼠耳蜗螺旋神经节中的神经胶质细胞和髓鞘形成

Ritter, K Elaine; Lynch, Sloane M; Gorris, Ashley M; Beyer, Lisa A; Kabara, Lisa; Dolan, David F; Raphael, Yehoash; Martin, Donna M

Epigenetic mechanisms of inner ear development

内耳发育的表观遗传机制

Balendran, Vinodh; Ritter, K Elaine; Martin, Donna M

[Guillain-Barré syndrome of unusual presentation and cerebellum ataxia in a pediatric patient associated with COVID-19]

[一名患有罕见格林-巴利综合征和小脑共济失调的儿童患者与 COVID-19 相关]

Waite, Mindy R; Skaggs, Kaia; Kaviany, Parisa; Skidmore, Jennifer M; Causeret, Frédéric; Martin, James F; Martin, Donna M; Álvarez, Adolfo; Alonso, Mónica; Ospino, Delusca; Escamilla, Verónica

Association of Salary Differences Between Medical Specialties With Sex Distribution

医疗专科薪酬差异与性别分布的关联

Bravender, Terrill; Selkie, Ellen; Sturza, Julie; Martin, Donna M; Griffith, Kent A; Kaciroti, Niko; Jagsi, Reshma