Publications:

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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: 2988G>A; Gln996=

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Orphanet Journal Of Rare Diseases

Ni, Qi Q; Chen, Xiang X; Zhang, Ping P; Yang, Lin L; Lu, Yulan Y; Xiao, Feifan F; Wu, Bingbing B; Wang, Huijun H; Zhou, Wenhao W; Dong, Xinran X

Publication Date: 2022-03-21

Variant appearance in text: CFTR: 2988G>A

PubMed Link: 35313924

Variant Present in the following documents:

• 13023_2022_2279_MOESM3_ESM.xls, sheet 1

View BVdb publication page

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Frequency of allele variations in the CFTR gene in a Mexican population.

Bmc Medical Genomics

Cantú-Reyna, Consuelo C; Galindo-Ramírez, Roberto R; Vázquez-Cantú, Mercedes M; Haddad-Talancón, Lorenza L; García-Muñoz, Willebaldo W

Publication Date: 2021-11-05

Variant appearance in text: rs121908797

PubMed Link: 34740355

Variant Present in the following documents:

• 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Population pharmacogenomics: an update on ethnogeographic differences and opportunities for precision public health.

Human Genetics

Zhou, Yitian Y; Lauschke, Volker M VM

Publication Date: 2022-06

Variant appearance in text: CFTR: 2988G>A

PubMed Link: 34652573

Variant Present in the following documents:

• 439_2021_Article_2385.pdf

View BVdb publication page

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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: rs121908797

PubMed Link: 34541464

Variant Present in the following documents:

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

View BVdb publication page

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A deep learning approach to identify gene targets of a therapeutic for human splicing disorders.

Nature Communications

Gao, Dadi D; Morini, Elisabetta E; Salani, Monica M; Krauson, Aram J AJ; Chekuri, Anil A; Sharma, Neeraj N; Ragavendran, Ashok A; Erdin, Serkan S; Logan, Emily M EM; Li, Wencheng W; Dakka, Amal A; Narasimhan, Jana J; Zhao, Xin X; Naryshkin, Nikolai N; Trotta, Christopher R CR; Effenberger, Kerstin A KA; Woll, Matthew G MG; Gabbeta, Vijayalakshmi V; Karp, Gary G; Yu, Yong Y; Johnson, Graham G; Paquette, William D WD; Cutting, Garry R GR; Talkowski, Michael E ME; Slaugenhaupt, Susan A SA

Publication Date: 2021-06-07

Variant appearance in text: CFTR: Gln996Gln

PubMed Link: 34099697

Variant Present in the following documents:

• Main text
• 41467_2021_23663_MOESM6_ESM.pdf
• 41467_2021_23663_MOESM5_ESM.pdf
• 41467_2021_Article_23663.pdf
• 41467_2021_23663_MOESM1_ESM.pdf

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: CFTR: 2988G>A; rs121908797

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies.

Plos Genetics

Joynt, Anya T AT; Evans, Taylor A TA; Pellicore, Matthew J MJ; Davis-Marcisak, Emily F EF; Aksit, Melis A MA; Eastman, Alice C AC; Patel, Shivani U SU; Paul, Kathleen C KC; Osorio, Derek L DL; Bowling, Alyssa D AD; Cotton, Calvin U CU; Raraigh, Karen S KS; West, Natalie E NE; Merlo, Christian A CA; Cutting, Garry R GR; Sharma, Neeraj N

Publication Date: 2020-10

Variant appearance in text: CFTR: 2988G>A

PubMed Link: 33085659

Variant Present in the following documents:

• Main text
• pgen.1009100.pdf

View BVdb publication page

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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: 2988G>A

PubMed Link: 31036917

Variant Present in the following documents:

• 41436_2019_525_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: CFTR: 2988G>A; Gln996=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.

American Journal Of Human Genetics

Lee, Melissa M; Roos, Patrick P; Sharma, Neeraj N; Atalar, Melis M; Evans, Taylor A TA; Pellicore, Matthew J MJ; Davis, Emily E; Lam, Anh-Thu N AN; Stanley, Susan E SE; Khalil, Sara E SE; Solomon, George M GM; Walker, Doug D; Raraigh, Karen S KS; Vecchio-Pagan, Briana B; Armanios, Mary M; Cutting, Garry R GR

Publication Date: 2017-05-04

Variant appearance in text: CFTR: 2988G>A; rs121908797

PubMed Link: 28475858

Variant Present in the following documents:

• Main text

View BVdb publication page

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Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.

F1000Research

Caminsky, Natasha N; Mucaki, Eliseos J EJ; Rogan, Peter K PK

Publication Date: 2014

Variant appearance in text: CFTR: 2988G>A

PubMed Link: 25717368

Variant Present in the following documents:

• Main text
• f1000research-3-6038.pdf

View BVdb publication page

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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: CFTR: 2988G>A

PubMed Link: 25674778

Variant Present in the following documents:

• Main text

View BVdb publication page

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Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions.

Human Mutation

Sharma, Neeraj N; Sosnay, Patrick R PR; Ramalho, Anabela S AS; Douville, Christopher C; Franca, Arianna A; Gottschalk, Laura B LB; Park, Jeenah J; Lee, Melissa M; Vecchio-Pagan, Briana B; Raraigh, Karen S KS; Amaral, Margarida D MD; Karchin, Rachel R; Cutting, Garry R GR

Publication Date: 2014-10

Variant appearance in text: CFTR: 2988G>A

PubMed Link: 25066652

Variant Present in the following documents:

• Main text

View BVdb publication page

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Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

Nature Genetics

Sosnay, Patrick R PR; Siklosi, Karen R KR; Van Goor, Fredrick F; Kaniecki, Kyle K; Yu, Haihui H; Sharma, Neeraj N; Ramalho, Anabela S AS; Amaral, Margarida D MD; Dorfman, Ruslan R; Zielenski, Julian J; Masica, David L DL; Karchin, Rachel R; Millen, Linda L; Thomas, Philip J PJ; Patrinos, George P GP; Corey, Mary M; Lewis, Michelle H MH; Rommens, Johanna M JM; Castellani, Carlo C; Penland, Christopher M CM; Cutting, Garry R GR

Publication Date: 2013-10

Variant appearance in text: CFTR: 2988G>A

PubMed Link: 23974870

Variant Present in the following documents:

• nihms-512446.pdf
• NIHMS512446-supplement-3.pdf
• NIHMS512446-supplement-12.xlsx, sheet 1

View BVdb publication page

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