Publications:

---

BEAT CF pulmonary exacerbations core protocol for evaluating the management of pulmonary exacerbations in people with cystic fibrosis.

Trials

Schultz, Andre A; McLeod, Charlie C; Berry, Scott S; Marsh, Julie J; McKenzie, Anne A; Messer, Mitch M; Wood, Jamie J; Saville, Ben B; Jaffe, Adam A; Ranganathan, Sarath S; Stick, Steve S; Wark, Peter P; Webb, Steve S; Snelling, Tom T

Publication Date: 2023-03-22

Variant appearance in text: TG: 2175_2176insA

PubMed Link: 36949472

Variant Present in the following documents:

• 13063_2023_7076_MOESM2_ESM.pdf

View BVdb publication page

---

Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)

Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI

Publication Date: 2020

Variant appearance in text: TG: 2175dupA

PubMed Link: 34541464

Variant Present in the following documents:

• cdr-3-959-SupplementaryMaterials.xlsx, sheet 4

View BVdb publication page

---

Haplotype-resolved de novo assembly of the Vero cell line genome.

Npj Vaccines

Sène, Marie-Angélique MA; Kiesslich, Sascha S; Djambazian, Haig H; Ragoussis, Jiannis J; Xia, Yu Y; Kamen, Amine A AA

Publication Date: 2021-08-20

Variant appearance in text: TG: 2174dupA

PubMed Link: 34417462

Variant Present in the following documents:

• 41541_2021_358_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.

Human Mutation

Nykamp, Keith K; Truty, Rebecca R; Riethmaier, Darlene D; Wilkinson, Julia J; Bristow, Sara L SL; Aguilar, Sienna S; Neitzel, Dana D; Faulkner, Nicole N; Aradhya, Swaroop S

Publication Date: 2021-09

Variant appearance in text: TG: 2175dup

PubMed Link: 34196078

Variant Present in the following documents:

• HUMU-42-1165-s002.xlsx, sheet 1

View BVdb publication page

---

Precise allele-specific genome editing by spatiotemporal control of CRISPR-Cas9 via pronuclear transplantation.

Nature Communications

Li, Yanhe Y; Weng, Yuteng Y; Bai, Dandan D; Jia, Yanping Y; Liu, Yingdong Y; Zhang, Yalin Y; Kou, Xiaochen X; Zhao, Yanhong Y; Ruan, Jingling J; Chen, Jiayu J; Yin, Jiqing J; Wang, Hong H; Teng, Xiaoming X; Wang, Zuolin Z; Liu, Wenqiang W; Gao, Shaorong S

Publication Date: 2020-09-14

Variant appearance in text: TG: 2175dup

PubMed Link: 32929070

Variant Present in the following documents:

• 41467_2020_18391_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.

European Journal Of Human Genetics : Ejhg

Girardet, Anne A; Viart, Victoria V; Plaza, Stéphanie S; Daina, Gemma G; De Rycke, Martine M; Des Georges, Marie M; Fiorentino, Francesco F; Harton, Gary G; Ishmukhametova, Aliya A; Navarro, Joaquima J; Raynal, Caroline C; Renwick, Pamela P; Saguet, Florielle F; Schwarz, Martin M; SenGupta, Sioban S; Tzetis, Maria M; Roux, Anne-Françoise AF; Claustres, Mireille M

Publication Date: 2016-04

Variant appearance in text: TG: 2175dupA

PubMed Link: 26014425

Variant Present in the following documents:

• Main text
• ejhg201599a.pdf

View BVdb publication page

---

Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Baker, Mei W MW; Atkins, Anne E AE; Cordovado, Suzanne K SK; Hendrix, Miyono M; Earley, Marie C MC; Farrell, Philip M PM

Publication Date: 2016-03

Variant appearance in text: TG: 2175_2176insA

PubMed Link: 25674778

Variant Present in the following documents:

• Main text

View BVdb publication page

---