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

Heritability, phenotypic, and genetic correlations across dimensional and categorical models of bipolar disorder in a family sample

在家族样本中,双相情感障碍的维度模型和分类模型之间的遗传力、表型和基因相关性

Arbona-Lampaya, Alejandro; Sung, Heejong; D'Amico, Alexander; Knowles, Emma E M; Besançon, Emily K; Freifeld, Ally; Lacbawan, Ley; Lopes, Fabiana; Kassem, Layla; Nardi, Antonio E; McMahon, Francis J

Independent inheritance of cognition and bipolar disorder in a family sample

家族样本中认知障碍和双相情感障碍的独立遗传

D'Amico, Alexander; Sung, Heejong; Arbona-Lampaya, Alejandro; Freifeld, Ally; Hosey, Katie; Garcia, Joshua; Lacbawan, Ley; Besançon, Emily; Kassem, Layla; Akula, Nirmala; Knowles, Emma E M; Dickinson, Dwight; McMahon, Francis J

Strong Genetic Overlaps Between Dimensional and Categorical Models of Bipolar Disorders in a Family Sample

在家族样本中,双相情感障碍的维度模型和类别模型之间存在显著的遗传重叠

Arbona-Lampaya, Alejandro; Sung, Heejong; D'Amico, Alexander; Knowles, Emma E M; Besançon, Emily K; Freifeld, Ally; Lacbawan, Ley; Lopes, Fabiana; Kassem, Layla; Nardi, Antonio E; McMahon, Francis J

NGS-defined measurable residual disease (MRD) after initial chemotherapy as a prognostic biomarker for acute myeloid leukemia

NGS定义的初始化疗后可测量残留病灶(MRD)作为急性髓系白血病的预后生物标志物

Li, Yonghong; Solis-Ruiz, Jose; Yang, Fei; Long, Nicola; Tong, Carmen H; Lacbawan, Felicitas L; Racke, Frederick K; Press, Richard D

A resource of induced pluripotent stem cell (iPSC) lines including clinical, genomic, and cellular data from genetically isolated families with mood and psychotic disorders

诱导性多能干细胞 (iPSC) 系资源,包括患有情绪障碍和精神病的遗传孤立家庭的临床、基因组和细胞数据

Sevilla D Detera-Wadleigh #, Layla Kassem #, Emily Besancon, Fabiana Lopes, Nirmala Akula, Heejong Sung, Meghan Blattner, Laura Sheridan, Ley Nadine Lacbawan, Joshua Garcia, Francis Gordovez, Katherine Hosey, Cassandra Donner, Claudio Salvini, Thomas Schulze, David T W Chen, Bryce England, Joanna Cr

Analytical validation and performance characteristics of a 48-gene next-generation sequencing panel for detecting potentially actionable genomic alterations in myeloid neoplasms

用于检测髓系肿瘤中潜在可操作的基因组变异的 48 基因下一代测序面板的分析验证和性能特征

Sun Hee Rosenthal, Anna Gerasimova, Charles Ma, Hai-Rong Li, Andrew Grupe, Hansook Chong, Allan Acab, Alla Smolgovsky, Renius Owen, Christopher Elzinga, Rebecca Chen, Daniel Sugganth, Tracey Freitas, Jennifer Graham, Kristen Champion, Anindya Bhattacharya, Frederick Racke, Felicitas Lacbawan

Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia

精氨酸与鸟氨酸比值作为新生儿高精氨酸血症筛查阳性患者的诊断标志物

Huang, Yue; Sharma, Rajesh; Feigenbaum, Annette; Lee, Chung; Sahai, Inderneel; Sanchez Russo, Rossana; Neira, Juanita; Brooks, Susan Sklower; Jackson, Kelly E; Wong, Derek; Cederbaum, Stephen; Lacbawan, Felicitas L; Rowland, Charles M; Tanpaiboon, Pranoot; Salazar, Denise

Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing

利用新一代测序技术开发和验证包含34个基因的遗传性癌症易感基因检测组合

Sun Hee Rosenthal,Weimin Sun,Ke Zhang,Yan Liu,Quoclinh Nguyen,Anna Gerasimova,Camille Nery,Linda Cheng,Carolyn Castonguay,Elaine Hiller,James Li,Christopher Elzinga,David Wolfson,Alla Smolgovsky,Rebecca Chen,Arlene Buller-Burckle,Joseph Catanese,Andrew Grupe,Felicitas Lacbawan,Renius Owen

Traceback: A Proposed Framework to Increase Identification and Genetic Counseling of BRCA1 and BRCA2 Mutation Carriers Through Family-Based Outreach

追溯:一项旨在通过以家庭为基础的宣传活动,提高BRCA1和BRCA2基因突变携带者识别率和遗传咨询率的框架提案

Samimi, Goli; Bernardini, Marcus Q; Brody, Lawrence C; Caga-Anan, Charlisse F; Campbell, Ian G; Chenevix-Trench, Georgia; Couch, Fergus J; Dean, Michael; de Hullu, Joanne A; Domchek, Susan M; Drapkin, Ronny; Spencer Feigelson, Heather; Friedlander, Michael; Gaudet, Mia M; Harmsen, Marline G; Hurley, Karen; James, Paul A; Kwon, Janice S; Lacbawan, Felicitas; Lheureux, Stephanie; Mai, Phuong L; Mechanic, Leah E; Minasian, Lori M; Myers, Evan R; Robson, Mark E; Ramus, Susan J; Rezende, Lisa F; Shaw, Patricia A; Slavin, Thomas P; Swisher, Elizabeth M; Takenaka, Masataka; Bowtell, David D; Sherman, Mark E

Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta

内质网阳离子通道 TMEM38B/TRIC-B 的缺失会破坏细胞内钙稳态,并使隐性成骨不全症中的胶原蛋白合成失调

Wayne A Cabral, Masaki Ishikawa, Matthias Garten, Elena N Makareeva, Brandi M Sargent, MaryAnn Weis, Aileen M Barnes, Emma A Webb, Nicholas J Shaw, Leena Ala-Kokko, Felicitas L Lacbawan, Wolfgang Högler, Sergey Leikin, Paul S Blank, Joshua Zimmerberg, David R Eyre, Yoshihiko Yamada, Joan C Marini