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

Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes

CCND2 近端变异与小头畸形、身材矮小和发育迟缓相关:病例系列和逆脑生长表型的回顾

Filomena Pirozzi, Benson Lee, Nicole Horsley, Deepika D Burkardt, William B Dobyns, John M Graham Jr, Maria L Dentici, Claudia Cesario, Jens Schallner, Joseph Porrmann, Nataliya Di Donato, Pedro A Sanchez-Lara, Ghayda M Mirzaa

A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity

致病性 CtBP1 错义突变导致辅因子结合和转录活性改变

David B Beck, T Subramanian, S Vijayalingam, Uthayashankar R Ezekiel, Sandra Donkervoort, Michele L Yang, Holly A Dubbs, Xilma R Ortiz-Gonzalez, Shenela Lakhani, Devorah Segal, Margaret Au, John M Graham Jr, Sumit Verma, Darrel Waggoner, Marwan Shinawi, Carsten G Bönnemann, Wendy K Chung, G Chinnadu

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly

AKT3基因突变与多种发育障碍相关,包括极度巨脑畸形。

Diana Alcantara ,Andrew E Timms ,Karen Gripp ,Laura Baker ,Kaylee Park ,Sarah Collins ,Chi Cheng ,Fiona Stewart ,Sarju G Mehta ,Anand Saggar ,László Sztriha ,Melinda Zombor ,Oana Caluseriu ,Ronit Mesterman ,Margot I Van Allen ,Adeline Jacquinet ,Sofia Ygberg ,Jonathan A Bernstein ,Aaron M Wenger ,Harendra Guturu ,Gill Bejerano ,Natalia Gomez-Ospina ,Anna Lehman ,Enrico Alfei ,Chiara Pantaleoni ,Valerio Conti ,Renzo Guerrini ,Ute Moog ,John M Graham Jr ,Robert Hevner ,William B Dobyns ,Mark O'Driscoll ,Ghayda M Mirzaa

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome

STAMBP 基因突变(编码一种去泛素化酶)可导致小头畸形-毛细血管畸形综合征

Laura M McDonell, Ghayda M Mirzaa, Diana Alcantara, Jeremy Schwartzentruber, Melissa T Carter, Leo J Lee, Carol L Clericuzio, John M Graham Jr, Deborah J Morris-Rosendahl, Tilman Polster, Gyula Acsadi, Sharron Townshend, Simon Williams, Anne Halbert, Bertrand Isidor, Albert David, Christopher D Smys

Exome sequencing identifies PDE4D mutations in acrodysostosis

外显子组测序鉴定出肢端骨发育不良症中的PDE4D突变

Hane Lee ,John M Graham Jr, David L Rimoin, Ralph S Lachman, Pavel Krejci, Stuart W Tompson, Stanley F Nelson, Deborah Krakow, Daniel H Cohn

Activation of the signaling cascade in response to T lymphocyte receptor stimulation and prostanoids in a case of cutaneous lupus

皮肤狼疮病例中,T淋巴细胞受体刺激和前列腺素激活信号级联反应

Abreu-Velez, Ana Maria; Smith, Graham Jr; Howard, Michael S

Expression, tandem repeat copy number variation and stability of four macrosatellite arrays in the human genome

人类基因组中四个宏卫星阵列的表达、串联重复拷贝数变异和稳定性

Tremblay, Deanna C; Alexander, Graham Jr; Moseley, Shawn; Chadwick, Brian P