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: ACVRL1: 199C>T; Arg67Trp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.

Archives Of Disease In Childhood

Dai, Dan D; Mei, Mei M; Hu, Liyuan L; Cao, Yun Y; Wang, Xiaochuan X; Wang, Libo L; Lu, Yulan Y; Yang, Lin L; Dong, Xinran X; Wang, Huijun H; Wu, Bingbing B; Qian, Liling L

Publication Date: 2022-02

Variant appearance in text: ACVRL1: R67W

PubMed Link: 34134972

Variant Present in the following documents:

• archdischild-2021-322058supp001.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: ACVRL1: 199C>T

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: HHT: 199C>T

PubMed Link: 33677851

Variant Present in the following documents:

• Main text
• ceo-2020-02124-suppl.pdf
• ceo-2020-02124.pdf

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Pulmonary Hypertension and Hereditary Hemorrhagic Telangiectasia Related to an ACVRL1 Mutation.

Internal Medicine (Tokyo, Japan)

Yokokawa, Tetsuro T; Sugimoto, Koichi K; Kimishima, Yusuke Y; Misaka, Tomofumi T; Yoshihisa, Akiomi A; Morisaki, Hiroko H; Yamada, Osamu O; Nakazato, Kazuhiko K; Ishida, Takafumi T; Takeishi, Yasuchika Y

Publication Date: 2020-01-15

Variant appearance in text: ACVRL1: 199C>T

PubMed Link: 31511490

Variant Present in the following documents:

• Main text

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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: ACVRL1: 199C>T

PubMed Link: 31455059

Variant Present in the following documents:

• Main text
• neuroint-2019-00150.pdf

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Spectrum of Novel Hereditary Hemorrhagic Telangiectasia Variants in an Austrian Patient Cohort.

Clinical And Experimental Otorhinolaryngology

Koenighofer, Martin M; Parzefall, Thomas T; Frohne, Alexandra A; Allen, Matthew M; Unterberger, Ursula U; Laccone, Franco F; Schoefer, Christian C; Frei, Klemens K; Lucas, Trevor T

Publication Date: 2019-11

Variant appearance in text: HHT: 199C>T

PubMed Link: 31220907

Variant Present in the following documents:

• Main text
• ceo-2019-00304.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: HHT2: R67W

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

Human Mutation

Machado, Rajiv D RD; Southgate, Laura L; Eichstaedt, Christina A CA; Aldred, Micheala A MA; Austin, Eric D ED; Best, D Hunter DH; Chung, Wendy K WK; Benjamin, Nicola N; Elliott, C Gregory CG; Eyries, Mélanie M; Fischer, Christine C; Gräf, Stefan S; Hinderhofer, Katrin K; Humbert, Marc M; Keiles, Steven B SB; Loyd, James E JE; Morrell, Nicholas W NW; Newman, John H JH; Soubrier, Florent F; Trembath, Richard C RC; Viales, Rebecca Rodríguez RR; Grünig, Ekkehard E

Publication Date: 2015-12

Variant appearance in text: ACVRL1: 199C>T

PubMed Link: 26387786

Variant Present in the following documents:

• Main text

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: ACVRL1: R67W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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Specificity and structure of a high affinity activin receptor-like kinase 1 (ALK1) signaling complex.

The Journal Of Biological Chemistry

Townson, Sharon A SA; Martinez-Hackert, Erik E; Greppi, Chloe C; Lowden, Patricia P; Sako, Dianne D; Liu, June J; Ucran, Jeffrey A JA; Liharska, Katia K; Underwood, Kathryn W KW; Seehra, Jasbir J; Kumar, Ravindra R; Grinberg, Asya V AV

Publication Date: 2012-08-10

Variant appearance in text: HHT2: R67W

PubMed Link: 22718755

Variant Present in the following documents:

• Main text

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Gastric angiodysplasia in a hereditary hemorrhagic telangiectasia type 2 patient.

World Journal Of Gastroenterology

Ha, Minsu M; Kim, Yoon Jae YJ; Kwon, Kwang An KA; Hahm, Ki Baik KB; Kim, Mi-Jung MJ; Kim, Dong Kyu DK; Lee, Young Jae YJ; Oh, S Paul SP

Publication Date: 2012-04-21

Variant appearance in text: HHT: 199C>T

PubMed Link: 22553411

Variant Present in the following documents:

• Main text

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Bioinformatic analysis of pathogenic missense mutations of activin receptor like kinase 1 ectodomain.

Plos One

Scotti, Claudia C; Olivieri, Carla C; Boeri, Laura L; Canzonieri, Cecilia C; Ornati, Federica F; Buscarini, Elisabetta E; Pagella, Fabio F; Danesino, Cesare C

Publication Date: 2011

Variant appearance in text: HHT2: R67W

PubMed Link: 22028876

Variant Present in the following documents:

• Main text

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Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.

Journal Of Medical Genetics

Prigoda, N L NL; Savas, S S; Abdalla, S A SA; Piovesan, B B; Rushlow, D D; Vandezande, K K; Zhang, E E; Ozcelik, H H; Gallie, B L BL; Letarte, M M

Publication Date: 2006-09

Variant appearance in text: ACVRL1: R67W

PubMed Link: 16690726

Variant Present in the following documents:

• 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

Variant appearance in text:

PubMed Link: 15879500

Variant Present in the following documents:

• Main text

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