Publications:

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The landscape of tolerated genetic variation in humans and primates.

Biorxiv : The Preprint Server For Biology

Gao, Hong H; Hamp, Tobias T; Ede, Jeffrey J; Schraiber, Joshua G JG; McRae, Jeremy J; Singer-Berk, Moriel M; Yang, Yanshen Y; Dietrich, Anastasia A; Fiziev, Petko P; Kuderna, Lukas L; Sundaram, Laksshman L; Wu, Yibing Y; Adhikari, Aashish A; Field, Yair Y; Chen, Chen C; Batzoglou, Serafim S; Aguet, Francois F; Lemire, Gabrielle G; Reimers, Rebecca R; Balick, Daniel D; Janiak, Mareike C MC; Kuhlwilm, Martin M; Orkin, Joseph D JD; Manu, Shivakumara S; Valenzuela, Alejandro A; Bergman, Juraj J; Rouselle, Marjolaine M; Silva, Felipe Ennes FE; Agueda, Lidia L; Blanc, Julie J; Gut, Marta M; de Vries, Dorien D; Goodhead, Ian I; Harris, R Alan RA; Raveendran, Muthuswamy M; Jensen, Axel A; Chuma, Idriss S IS; Horvath, Julie J; Hvilsom, Christina C; Juan, David D; Frandsen, Peter P; de Melo, Fabiano R FR; Bertuol, Fabricio F; Byrne, Hazel H; Sampaio, Iracilda I; Farias, Izeni I; Valsecchi do Amaral, João J; Messias, Mariluce M; da Silva, Maria N F MNF; Trivedi, Mihir M; Rossi, Rogerio R; Hrbek, Tomas T; Andriaholinirina, Nicole N; Rabarivola, Clément J CJ; Zaramody, Alphonse A; Jolly, Clifford J CJ; Phillips-Conroy, Jane J; Wilkerson, Gregory G; Abee, Christian C; Simmons, Joe H JH; Fernandez-Duque, Eduardo E; Kanthaswamy, Ee E; Shiferaw, Fekadu F; Wu, Dongdong D; Zhou, Long L; Shao, Yong Y; Zhang, Guojie G; Keyyu, Julius D JD; Knauf, Sascha S; Le, Minh D MD; Lizano, Esther E; Merker, Stefan S; Navarro, Arcadi A; Batallion, Thomas T; Nadler, Tilo T; Khor, Chiea Chuen CC; Lee, Jessica J; Tan, Patrick P; Lim, Weng Khong WK; Kitchener, Andrew C AC; Zinner, Dietmar D; Gut, Ivo I; Melin, Amanda A; Guschanski, Katerina K; Schierup, Mikkel Heide MH; Beck, Robin M D RMD; Umapathy, Govindhaswamy G; Roos, Christian C; Boubli, Jean P JP; Lek, Monkol M; Sunyaev, Shamil S; O'Donnell, Anne A; Rehm, Heidi H; Xu, Jinbo J; Rogers, Jeffrey J; Marques-Bonet, Tomas T; Farh, Kyle Kai-How KK

Publication Date: 2023-05-02

Variant appearance in text: ACVRL1: 200G>A; Arg67Gln

PubMed Link: 37205491

Variant Present in the following documents:

• media-2.xlsx, sheet 1

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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: 200G>A; Arg67Gln

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Distribution of Cerebrovascular Phenotypes According to Variants of the ENG and ACVRL1 Genes in Subjects with Hereditary Hemorrhagic Telangiectasia.

Journal Of Clinical Medicine

Gaetani, Eleonora E; Peppucci, Elisabetta E; Agostini, Fabiana F; Di Martino, Luigi L; Lucci Cordisco, Emanuela E; Sturiale, Carmelo L CL; Puca, Alfredo A; Porfidia, Angelo A; Alexandre, Andrea A; Pedicelli, Alessandro A; Pola, Roberto R

Publication Date: 2022-05-10

Variant appearance in text: ACVRL1: 200G>A

PubMed Link: 35628811

Variant Present in the following documents:

• Main text
• jcm-11-02685.pdf

View BVdb publication page

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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: 200G>A

PubMed Link: 33919892

Variant Present in the following documents:

• Main text

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Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry.

Orphanet Journal Of Rare Diseases

Sánchez-Martínez, Rosario R; Iriarte, Adriana A; Mora-Luján, José María JM; Patier, José Luis JL; López-Wolf, Daniel D; Ojeda, Ana A; Torralba, Miguel Angel MA; Juyol, María Coloma MC; Gil, Ricardo R; Añón, Sol S; Salazar-Mendiguchía, Joel J; Riera-Mestre, Antoni A; ,

Publication Date: 2020-06-05

Variant appearance in text: ACVRL1: 200G>A; Arg67Gln

PubMed Link: 32503579

Variant Present in the following documents:

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: ACVRL1: 200G>A; R67Q

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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PI3K (Phosphatidylinositol 3-Kinase) Activation and Endothelial Cell Proliferation in Patients with Hemorrhagic Hereditary Telangiectasia Type 1.

Cells

Iriarte, Adriana A; Figueras, Agnes A; Cerdà, Pau P; Mora, José María JM; Jucglà, Anna A; Penín, Rosa R; Viñals, Francesc F; Riera-Mestre, Antoni A

Publication Date: 2019-08-24

Variant appearance in text: ACVRL1: 200G>A

PubMed Link: 31450639

Variant Present in the following documents:

• Main text
• cells-08-00971.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: ACVRL1: 200G>A

PubMed Link: 31400083

Variant Present in the following documents:

• Main text
• MGG3-7-e893.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: 200G>A

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: R67Q

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: R67Q

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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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: HHT: 200G>A

PubMed Link: 23805858

Variant Present in the following documents:

• Main text
• 1750-1172-8-94.pdf

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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: R67Q

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: Arg67Gln

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: R67Q

PubMed Link: 22028876

Variant Present in the following documents:

• Main text

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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: ACVRL1: 200G>A

PubMed Link: 19508727

Variant Present in the following documents:

• Main text
• 1471-2350-10-53.pdf

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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: R67Q

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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