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: 3883del; Ile1295fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Personalized Selection of a CFTR Modulator for a Patient with a Complex Allele [L467F;F508del].

Current Issues In Molecular Biology

Kondratyeva, Elena E; Bulatenko, Nataliya N; Melyanovskaya, Yuliya Y; Efremova, Anna A; Zhekaite, Elena E; Sherman, Viktoriya V; Voronkova, Anna A; Asherova, Irina I; Polyakov, Alexander A; Adyan, Tagui T; Kovalskaia, Valeriia V; Bukharova, Tatiana T; Goldshtein, Dmitry D; Kutsev, Sergey S

Publication Date: 2022-10-21

Variant appearance in text: CFTR: 3883delA

PubMed Link: 36286063

Variant Present in the following documents:

• Main text
• cimb-44-00349.pdf

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Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients.

Genes

Petrova, Nika V NV; Kashirskaya, Nataliya Y NY; Vasilyeva, Tatyana A TA; Kondratyeva, Elena I EI; Zhekaite, Elena K EK; Voronkova, Anna Y AY; Sherman, Victoria D VD; Galkina, Varvara A VA; Ginter, Eugeny K EK; Kutsev, Sergey I SI; Marakhonov, Andrey V AV; Zinchenko, Rena A RA

Publication Date: 2020-05-15

Variant appearance in text: CFTR: 3883delA

PubMed Link: 32429104

Variant Present in the following documents:

• Main text
• genes-11-00554.pdf

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Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis.

Bmc Medical Genomics

Ivanov, Maxim M; Matsvay, Alina A; Glazova, Olga O; Krasovskiy, Stanislav S; Usacheva, Mariya M; Amelina, Elena E; Chernyak, Aleksandr A; Ivanov, Mikhail M; Musienko, Sergey S; Prodanov, Timofey T; Kovalenko, Sergey S; Baranova, Ancha A; Khafizov, Kamil K

Publication Date: 2018-02-13

Variant appearance in text: CFTR: 3883delA; I1295Ffs

PubMed Link: 29504914

Variant Present in the following documents:

• Main text
• 12920_2018_Article_328.pdf

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Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.

Molecular Genetics & Genomic Medicine

Behar, Doron M DM; Inbar, Ori O; Shteinberg, Michal M; Gur, Michal M; Mussaffi, Huda H; Shoseyov, David D; Ashkenazi, Moshe M; Alkrinawi, Soliman S; Bormans, Concetta C; Hakim, Fahed F; Mei-Zahav, Meir M; Cohen-Cymberknoh, Malena M; Dagan, Adi A; Prais, Dario D; Sarouk, Ifat I; Stafler, Patrick P; Bar Aluma, Bat El BE; Akler, Gidon G; Picard, Elie E; Aviram, Micha M; Efrati, Ori O; Livnat, Galit G; Rivlin, Joseph J; Bentur, Lea L; Blau, Hannah H; Kerem, Eitan E; Singer, Amihood A

Publication Date: 2017-05

Variant appearance in text: CFTR: 3883delA; Ile1295Phefs*33

PubMed Link: 28546993

Variant Present in the following documents:

• Main text

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