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

ALDH9A1 deficiency as a source of endogenous DNA damage that requires repair by the Fanconi anemia pathway.

ALDH9A1 缺乏是内源性 DNA 损伤的来源,需要通过范可尼贫血途径进行修复

Jung Moonjung, Kim Jungwoo, Park Yeji, Ilyashov Isaac, Yang Fan, Choijilsuren Haruna B, Keahi Danielle, Durmaz Jordan A, Bea Habin, Goldfarb Audrey M, Stein Mia D, Wong Claudia, White Ryan R, Sridhar Sunandini, Noonan Raymond, Wiley Tom F, Carroll Thomas S, Lach Francis P, Jeong Sangmoo, Miranda Ileana C, Smogorzewska Agata

Tracking Cytopenias in FANCA-deficient Fanconi Anemia

追踪FANCA缺陷型范可尼贫血症中的细胞减少症

Maxwell, Rochelle R; Berger, Tamar; Jiang, Caroline S; Rosenberg, Allana; Gonzalez, Ashlyn-Maree; Odame, Jodie; Lin, Yu-Chien; Lach, Francis P; Kennedy, Jennifer; Tryon, Rebecca; Donovan, Frank X; Kimble, Danielle C; Soma, Shivatheja; Cancio, Maria I; Wagner, John E; MacMillan, Margaret L; Davies, Stella M; Chandrasekharappa, Settara C; Mehta, Parinda A; Boulad, Farid; Auerbach, Arleen D; Smogorzewska, Agata

RTF2 controls replication repriming and ribonucleotide excision at the replisome

RTF2 控制复制体上的复制重新启动和核糖核苷酸切除。

Conti, Brooke A; Ruiz, Penelope D; Broton, Cayla; Blobel, Nicolas J; Kottemann, Molly C; Sridhar, Sunandini; Lach, Francis P; Wiley, Tom; Sasi, Nanda K; Carroll, Thomas; Smogorzewska, Agata

Comparison of the clinical phenotype and haematological course of siblings with Fanconi anaemia

范可尼贫血症同胞的临床表型和血液学病程比较

Jung, Moonjung; Mehta, Parinda A; Jiang, Caroline S; Rosti, Rasim O; Usleaman, Gabriel; Correa da Rosa, Joel M; Lach, Francis P; Goodridge, Erica; Auerbach, Arleen D; Davies, Stella M; Smogorzewska, Agata; Boulad, Farid

Distinct roles of BRCA2 in replication fork protection in response to hydroxyurea and DNA interstrand cross-links

BRCA2在响应羟基脲和DNA链间交联时对复制叉保护的不同作用

Rickman, Kimberly A; Noonan, Raymond J; Lach, Francis P; Sridhar, Sunandini; Wang, Anderson T; Abhyankar, Avinash; Huang, Athena; Kelly, Michael; Auerbach, Arleen D; Smogorzewska, Agata

Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia

16号染色体父系或母系单亲二体导致突变等位基因纯合,从而引起范可尼贫血症。

Donovan, Frank X; Kimble, Danielle C; Kim, Yonghwan; Lach, Francis P; Harper, Ursula; Kamat, Aparna; Jones, MaryPat; Sanborn, Erica M; Tryon, Rebecca; Wagner, John E; MacMillan, Margaret L; Ostrander, Elaine A; Auerbach, Arleen D; Smogorzewska, Agata; Chandrasekharappa, Settara C

Natural history and management of Fanconi anemia patients with head and neck cancer: A 10-year follow-up

范可尼贫血合并头颈癌患者的自然病程和治疗:10年随访

Kutler, David I; Patel, Krupa R; Auerbach, Arleen D; Kennedy, Jennifer; Lach, Francis P; Sanborn, Erica; Cohen, Marc A; Kuhel, William I; Smogorzewska, Agata

Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes

对范可尼贫血基因致病性缺失变异的全面分析

Flynn, Elizabeth K; Kamat, Aparna; Lach, Francis P; Donovan, Frank X; Kimble, Danielle C; Narisu, Narisu; Sanborn, Erica; Boulad, Farid; Davies, Stella M; Gillio, Alfred P 3rd; Harris, Richard E; MacMillan, Margaret L; Wagner, John E; Smogorzewska, Agata; Auerbach, Arleen D; Ostrander, Elaine A; Chandrasekharappa, Settara C

Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia

大规模并行测序、aCGH 和 RNA-Seq 技术可为范可尼贫血症提供全面的分子诊断。

Chandrasekharappa, Settara C; Lach, Francis P; Kimble, Danielle C; Kamat, Aparna; Teer, Jamie K; Donovan, Frank X; Flynn, Elizabeth; Sen, Shurjo K; Thongthip, Supawat; Sanborn, Erica; Smogorzewska, Agata; Auerbach, Arleen D; Ostrander, Elaine A