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: 3104T>A; Met1035Lys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: NF1: M1035K

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1.

Molecular Genetics & Genomic Medicine

N Abdel-Aziz, Nahla N; Y El-Kamah, Ghada G; A Khairat, Rabab R; R Mohamed, Hanan H; Z Gad, Yehia Y; El-Ghor, Akmal M AM; Amr, Khalda S KS

Publication Date: 2021-06-03

Variant appearance in text: NF1: 3104T>A; Met1035Lys; rs137854553

PubMed Link: 34080803

Variant Present in the following documents:

• Main text
• MGG3-9-e1631.pdf

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Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1.

Molecular Genetics & Genomic Medicine

N Abdel-Aziz, Nahla N; Y El-Kamah, Ghada G; A Khairat, Rabab R; R Mohamed, Hanan H; Z Gad, Yehia Y; El-Ghor, Akmal M AM; Amr, Khalda S KS

Publication Date: 2021-12

Variant appearance in text: NF1: 3104T>A; Met1035Lys; rs137854553

PubMed Link: 34080803

Variant Present in the following documents:

• Main text
• MGG3-9-e1631.pdf

View BVdb publication page

Ultraviolet radiation drives mutations in a subset of mucosal melanomas.

Nature Communications

Mundra, Piyushkumar A PA; Dhomen, Nathalie N; Rodrigues, Manuel M; Mikkelsen, Lauge Hjorth LH; Cassoux, Nathalie N; Brooks, Kelly K; Valpione, Sara S; Reis-Filho, Jorge S JS; Heegaard, Steffen S; Stern, Marc-Henri MH; Roman-Roman, Sergio S; Marais, Richard R

Publication Date: 2021-01-11

Variant appearance in text: NF1: M1035K

PubMed Link: 33431815

Variant Present in the following documents:

• 41467_2020_20432_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page