Publications:

---

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: CFTR: 1826A>G; His609Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Trikafta-Extending Its Success to Less Common Mutations.

Journal Of Personalized Medicine

Bentur, Lea L; Pollak, Mordechai M

Publication Date: 2022-09-19

Variant appearance in text: CFTR: H609R

PubMed Link: 36143317

Variant Present in the following documents:

• Main text
• jpm-12-01528.pdf

View BVdb publication page

---

Analysis of the genotypic profile and its relationship with the clinical manifestations in people with cystic fibrosis: study from a rare disease registry.

Orphanet Journal Of Rare Diseases

Rueda-Nieto, Senay S; Mondejar-Lopez, Pedro P; Mira-Escolano, María-Pilar MP; Cutillas-Tolín, Ana A; Maceda-Roldán, Luis Alberto LA; Arense-Gonzalo, Julián Jesús JJ; Palomar-Rodríguez, Joaquín A JA

Publication Date: 2022-06-13

Variant appearance in text: CFTR: His609Arg

PubMed Link: 35698092

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2373.pdf

View BVdb publication page

---

Comprehensive analysis of mutations and clonal evolution patterns in a cohort of patients with cytogenetically normal acute myeloid leukemia.

Molecular Cytogenetics

Mat Yusoff, Yuslina Y; Ahid, Fadly F; Abu Seman, Zahidah Z; Abdullah, Julia J; Kamaluddin, Nor Rizan NR; Esa, Ezalia E; Zakaria, Zubaidah Z

Publication Date: 2021-09-24

Variant appearance in text: CFTR: H609R

PubMed Link: 34560908

Variant Present in the following documents:

• 13039_2021_Article_561.pdf

View BVdb publication page

---

Phenotyping Rare CFTR Mutations Reveal Functional Expression Defects Restored by TRIKAFTATM.

Journal Of Personalized Medicine

Laselva, Onofrio O; Ardelean, Maria C MC; Bear, Christine E CE

Publication Date: 2021-04-15

Variant appearance in text: CFTR: 1826A>G; H609R

PubMed Link: 33920764

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: CFTR: H609R

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: CFTR: 1826A>G; His609Arg

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

View BVdb publication page

---

Characterization of Ancestral Origin of Cystic Fibrosis of Patients with New Reported Mutations in CFTR.

Biomed Research International

Paz-Y-Miño, César C; Zambrano, Ana Karina AK; Ruiz-Cabezas, Juan Carlos JC; Armendáriz-Castillo, Isaac I; García-Cárdenas, Jennyfer M JM; Guerrero, Santiago S; López-Cortés, Andrés A; Pérez-Villa, Andy A; Guevara-Ramírez, Patricia P; Yumiceba, Verónica V; Leone, Paola E PE

Publication Date: 2020

Variant appearance in text: CFTR: H609R

PubMed Link: 32596391

Variant Present in the following documents:

• BMRI2020-9074760.pdf

View BVdb publication page

---

Clinical, genetic and microbiological characterization of pediatric patients with cystic fibrosis in a public Hospital in Ecuador.

Bmc Pediatrics

Lascano-Vaca, Yazmina Y; Ortiz-Prado, Esteban E; Gomez-Barreno, Lenin L; Simbaña-Rivera, Katherine K; Vasconez, Eduardo E; Lister, Alexander A; Arteaga-Espinosa, María Emilia ME; Perez, Geovanny F GF

Publication Date: 2020-03-06

Variant appearance in text: CFTR: His609Arg; rs397508310

PubMed Link: 32143663

Variant Present in the following documents:

• Main text
• 12887_2020_Article_2013.pdf

View BVdb publication page

---

Sequencing as a first-line methodology for cystic fibrosis carrier screening.

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

Beauchamp, Kyle A KA; Johansen Taber, Katherine A KA; Grauman, Peter V PV; Spurka, Lindsay L; Lim-Harashima, Jeraldine J; Svenson, Ashley A; Goldberg, James D JD; Muzzey, Dale D

Publication Date: 2019-11

Variant appearance in text: CFTR: 1826A>G; H609R

PubMed Link: 31036917

Variant Present in the following documents:

• 41436_2019_525_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.

American Journal Of Human Genetics

Raraigh, Karen S KS; Han, Sangwoo T ST; Davis, Emily E; Evans, Taylor A TA; Pellicore, Matthew J MJ; McCague, Allison F AF; Joynt, Anya T AT; Lu, Zhongzhou Z; Atalar, Melis M; Sharma, Neeraj N; Sheridan, Molly B MB; Sosnay, Patrick R PR; Cutting, Garry R GR

Publication Date: 2018-06-07

Variant appearance in text: CFTR: 1826A>G; His609Arg

PubMed Link: 29805046

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Spectrum of CFTR gene mutations in Ecuadorian cystic fibrosis patients: the second report of the p.H609R mutation.

Molecular Genetics & Genomic Medicine

Ortiz, Sofía C SC; Aguirre, Santiago J SJ; Flores, Sofía S; Maldonado, Claudio C; Mejía, Juan J; Salinas, Lilian L

Publication Date: 2017-11

Variant appearance in text: CFTR: H609R

PubMed Link: 29178639

Variant Present in the following documents:

• Main text
• MGG3-5-751.pdf

View BVdb publication page

---

Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens.

Fertility And Sterility

Havasi, Viktoria V; Rowe, Steven M SM; Kolettis, Peter N PN; Dayangac, Didem D; Sahin, Ahmet A; Grangeia, Ana A; Carvalho, Filipa F; Barros, Alberto A; Sousa, Mario M; Bassas, Lluis L; Casals, Teresa T; Sorscher, Eric J EJ

Publication Date: 2010-11

Variant appearance in text: CFTR: H609R

PubMed Link: 20100616

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.

American Journal Of Human Genetics

Groman, Joshua D JD; Hefferon, Timothy W TW; Casals, Teresa T; Bassas, Lluís L; Estivill, Xavier X; Des Georges, Marie M; Guittard, Caroline C; Koudova, Monika M; Fallin, M Daniele MD; Nemeth, Krisztina K; Fekete, Gyorgy G; Kadasi, Ludovit L; Friedman, Ken K; Schwarz, Martin M; Bombieri, Cristina C; Pignatti, Pier Franco PF; Kanavakis, Emmanuel E; Tzetis, Maria M; Schwartz, Marianne M; Novelli, Giuseppe G; D'Apice, Maria Rosaria MR; Sobczynska-Tomaszewska, Agnieszka A; Bal, Jerzy J; Stuhrmann, Manfred M; Macek, Milan M; Claustres, Mireille M; Cutting, Garry R GR

Publication Date: 2004-01

Variant appearance in text: CFTR: H609R

PubMed Link: 14685937

Variant Present in the following documents:

• Main text

View BVdb publication page

---