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: VCAN: 9265+1G>A

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family.

Frontiers In Genetics

Bigoni, Stefania S; Neri, Marcella M; Scotton, Chiara C; Farina, Roberto R; Sabatelli, Patrizia P; Jiang, Chongyi C; Zhang, Jianguo J; Falzarano, Maria Sofia MS; Rossi, Rachele R; Ognibene, Davide D; Selvatici, Rita R; Gualandi, Francesca F; Bosshardt, Dieter D; Perri, Paolo P; Campa, Claudio C; Brancati, Francesco F; Salvatore, Marco M; De Stefano, Maria Chiara MC; Taruscio, Domenica D; Trombelli, Leonardo L; Fang, Mingyan M; Ferlini, Alessandra A

Publication Date: 2018

Variant appearance in text: VCAN: 9265+1G>A

PubMed Link: 30740127

Variant Present in the following documents:

• Main text
• fgene-09-00723.pdf

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Regulatory RNA binding proteins contribute to the transcriptome-wide splicing alterations in human cellular senescence.

Aging

Dong, Qiongye Q; Wei, Lei L; Zhang, Michael Q MQ; Wang, Xiaowo X

Publication Date: 2018-06-24

Variant appearance in text: N/A

PubMed Link: 29936497

Variant Present in the following documents:

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Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome.

European Journal Of Human Genetics : Ejhg

Kloeckener-Gruissem, Barbara B; Neidhardt, John J; Magyar, István I; Plauchu, Henri H; Zech, Jean-Christophe JC; Morlé, Laurette L; Palmer-Smith, Sheila M SM; Macdonald, Moira J MJ; Nas, Véronique V; Fry, Andrew E AE; Berger, Wolfgang W

Publication Date: 2013-03

Variant appearance in text: VCAN: 9265+1G>A

PubMed Link: 22739342

Variant Present in the following documents:

• Main text

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Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome.

Archives Of Ophthalmology (Chicago, Ill. : 1960)

Ronan, Shawn M SM; Tran-Viet, Khanh-Nhat KN; Burner, Erica L EL; Metlapally, Ravikanth R; Toth, Cynthia A CA; Young, Terri L TL

Publication Date: 2009-11

Variant appearance in text: CSPG2: 9265+1G>A

PubMed Link: 19901218

Variant Present in the following documents:

• Main text

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