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: NF1: 586+5G>A

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq.

Npj Genomic Medicine

Koster, R R; Brandão, R D RD; Tserpelis, D D; van Roozendaal, C E P CEP; van Oosterhoud, C N CN; Claes, K B M KBM; Paulussen, A D C ADC; Sinnema, M M; Vreeburg, M M; van der Schoot, V V; Stumpel, C T R M CTRM; Broen, M P G MPG; Spruijt, L L; Jongmans, M C J MCJ; Lesnik Oberstein, S A J SAJ; Plomp, A S AS; Misra-Isrie, M M; Duijkers, F A FA; Louwers, M J MJ; Szklarczyk, R R; Derks, K W J KWJ; Brunner, H G HG; van den Wijngaard, A A; van Geel, M M; Blok, M J MJ

Publication Date: 2021-11-15

Variant appearance in text: NF1: 586+5G>A

PubMed Link: 34782607

Variant Present in the following documents:

• 41525_2021_258_MOESM1_ESM.pdf

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Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.

Genome Biology

Maddirevula, Sateesh S; Kuwahara, Hiroyuki H; Ewida, Nour N; Shamseldin, Hanan E HE; Patel, Nisha N; Alzahrani, Fatema F; AlSheddi, Tarfa T; AlObeid, Eman E; Alenazi, Mona M; Alsaif, Hessa S HS; Alqahtani, Maha M; AlAli, Maha M; Al Ali, Hatoon H; Helaby, Rana R; Ibrahim, Niema N; Abdulwahab, Firdous F; Hashem, Mais M; Hanna, Nadine N; Monies, Dorota D; Derar, Nada N; Alsagheir, Afaf A; Alhashem, Amal A; Alsaleem, Badr B; Alhebbi, Hamoud H; Wali, Sami S; Umarov, Ramzan R; Gao, Xin X; Alkuraya, Fowzan S FS

Publication Date: 2020-06-17

Variant appearance in text: NF1: 586+5G>A

PubMed Link: 32552793

Variant Present in the following documents:

• 13059_2020_2053_MOESM9_ESM.xlsx, sheet 1
• 13059_2020_2053_MOESM2_ESM.xlsx, sheet 1
• 13059_2020_2053_MOESM3_ESM.xlsx, sheet 1

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Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.

Advances In Bioinformatics

Tang, Rongying R; Prosser, Debra O DO; Love, Donald R DR

Publication Date: 2016

Variant appearance in text: NF1: 586+5G>A

PubMed Link: 27313609

Variant Present in the following documents:

• 5614058.f1.pdf

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