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: ENG: 360C>A; Tyr120Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Current Status of Clinical and Genetic Screening of Hereditary Hemorrhagic Telangiectasia Families in Hungary.

Journal Of Clinical Medicine

Major, Tamás T; Bereczky, Zsuzsanna Z; Gindele, Réka R; Balogh, Gábor G; Rácz, Benedek B; Bora, László L; Kézsmárki, Zsolt Z; Brúgós, Boglárka B; Pfliegler, György G

Publication Date: 2021-08-24

Variant appearance in text: ENG: 360C>A

PubMed Link: 34501220

Variant Present in the following documents:

• Main text
• jcm-10-03774.pdf

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Founder Effects in Hereditary Hemorrhagic Telangiectasia.

Journal Of Clinical Medicine

Major, Tamás T; Gindele, Réka R; Balogh, Gábor G; Bárdossy, Péter P; Bereczky, Zsuzsanna Z

Publication Date: 2021-04-14

Variant appearance in text: ENG: 360C>A

PubMed Link: 33919892

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• Main text

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Long non-coding RNA expression profiles in hereditary haemorrhagic telangiectasia.

Plos One

Tørring, Pernille M PM; Larsen, Martin Jakob MJ; Kjeldsen, Anette D AD; Ousager, Lilian Bomme LB; Tan, Qihua Q; Brusgaard, Klaus K

Publication Date: 2014

Variant appearance in text: ENG: 360C>A

PubMed Link: 24603890

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• Main text
• pone.0090272.pdf

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HHT diagnosis by Mid-infrared spectroscopy and artificial neural network analysis.

Orphanet Journal Of Rare Diseases

Lux, Andreas A; Müller, Ralf R; Tulk, Mark M; Olivieri, Carla C; Zarrabeita, Roberto R; Salonikios, Theresia T; Wirnitzer, Bernhard B

Publication Date: 2013-06-27

Variant appearance in text: ENG: 360C>A; Y120X

PubMed Link: 23805858

Variant Present in the following documents:

• Main text
• 1750-1172-8-94.pdf

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Directional next-generation RNA sequencing and examination of premature termination codon mutations in endoglin/hereditary haemorrhagic telangiectasia.

Molecular Syndromology

Govani, F S FS; Giess, A A; Mollet, I G IG; Begbie, M E ME; Jones, M D MD; Game, L L; Shovlin, C L CL

Publication Date: 2013-04

Variant appearance in text: ENG: 360C>A

PubMed Link: 23801935

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• Main text

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Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

Journal Of Medical Genetics

Abdalla, S A SA; Letarte, M M

Publication Date: 2006-02

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PubMed Link: 15879500

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• Main text

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