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: 360+1G>A

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia.

Bmc Medical Genomics

Kitayama, Kana K; Ishiguro, Tomoya T; Komiyama, Masaki M; Morisaki, Takayuki T; Morisaki, Hiroko H; Minase, Gaku G; Hamanaka, Kohei K; Miyatake, Satoko S; Matsumoto, Naomichi N; Kato, Masaru M; Takahashi, Toru T; Yorifuji, Tohru T

Publication Date: 2021-12-06

Variant appearance in text: ENG: 360+1G>A

PubMed Link: 34872578

Variant Present in the following documents:

• 12920_2021_1139_MOESM1_ESM.xlsx, sheet 1

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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: 360+1G>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: 360+1G>A

PubMed Link: 33919892

Variant Present in the following documents:

• Main text

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Genetic Variants and Clinical Phenotypes in Korean Patients With Hereditary Hemorrhagic Telangiectasia.

Clinical And Experimental Otorhinolaryngology

Kim, Bo-Gyeong BG; Jung, Joo-Hyun JH; Kim, Mi-Jung MJ; Moon, Eun-Hye EH; Oh, Jae-Hwan JH; Park, Jung-Woo JW; Cha, Heung-Eog HE; Kim, Ju-Hyun JH; Kim, Yoon-Jae YJ; Chung, Jun-Won JW; Hahm, Ki-Baik KB; Jin, Hong-Ryul HR; Jang, Yong-Ju YJ; Kim, Sung Wan SW; Chung, Seung-Kyu SK; Kim, Dae-Woo DW; Lee, Young Jae YJ; Kim, Seon-Tae ST

Publication Date: 2021-11

Variant appearance in text: ENG: 360+1G>A

PubMed Link: 33677851

Variant Present in the following documents:

• Main text
• ceo-2020-02124.pdf

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: ENG: 360+1G>A; rs886039505

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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Current Status of Clinical Diagnosis and Genetic Analysis of Hereditary Hemorrhagic Telangiectasia in South Korea: Multicenter Case Series and a Systematic Review.

Neurointervention

Kim, Donghyun D; Seo, Eul-Ju EJ; Song, Yun Sun YS; Suh, Chong Hyun CH; Kim, Jong Won JW; Kim, Dong Joon DJ; Suh, Dae Chul DC

Publication Date: 2019-09

Variant appearance in text: ENG: 360+1G>A

PubMed Link: 31455059

Variant Present in the following documents:

• Main text
• neuroint-2019-00150.pdf

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Variant analysis in Chinese families with hereditary hemorrhagic telangiectasia.

Molecular Genetics & Genomic Medicine

Zhao, Yali Y; Zhang, Yuan Y; Wang, Xiangdong X; Zhang, Luo L

Publication Date: 2019-09

Variant appearance in text: ENG: 360+1G>A

PubMed Link: 31400083

Variant Present in the following documents:

• Main text
• MGG3-7-e893.pdf

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Clinical and genetic analyses of three Korean families with hereditary hemorrhagic telangiectasia.

Bmc Medical Genetics

Kim, Mi-Jung MJ; Kim, Seon-Tae ST; Lee, Hyoung-Doo HD; Lee, Kyu-Yong KY; Seo, Jiyoung J; Lee, Jae-Bom JB; Lee, Young-Jae YJ; Oh, Suk P SP

Publication Date: 2011-10-03

Variant appearance in text: ENG: 360+1G>A

PubMed Link: 21967607

Variant Present in the following documents:

• Main text
• 1471-2350-12-130.pdf

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Mutation analysis of "Endoglin" and "Activin receptor-like kinase" genes in German patients with hereditary hemorrhagic telangiectasia and the value of rapid genotyping using an allele-specific PCR-technique.

Bmc Medical Genetics

Sadick, Haneen H; Hage, Johanna J; Goessler, Ulrich U; Stern-Straeter, Jens J; Riedel, Frank F; Hoermann, Karl K; Bugert, Peter P

Publication Date: 2009-06-09

Variant appearance in text: ENG: 360+1G>A

PubMed Link: 19508727

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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

Variant appearance in text:

PubMed Link: 15879500

Variant Present in the following documents:

• Main text

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