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: COL4A5: 438+5G>A

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece.

Genes

Hadjipanagi, Despina D; Papagregoriou, Gregory G; Koutsofti, Constantina C; Polydorou, Christiana C; Alivanis, Polichronis P; Andrikos, Aimilios A; Christodoulidou, Stalo S; Dardamanis, Manthos M; Diamantopoulos, Athanasios A AA; Fountoglou, Anastasios A; Frangou, Eleni E; Georgaki, Eleni E; Giannikouris, Ioannis I; Gkinis, Velissarios V; Goudas, Pavlos C PC; Kalaitzidis, Rigas G RG; Kaperonis, Nikolaos N; Koutroumpas, Georgios G; Makrydimas, George G; Myserlis, Grigorios G; Mitsioni, Andromachi A; Paliouras, Christos C; Papachristou, Fotios F; Papadopoulou, Dorothea D; Papagalanis, Nikolaos N; Papagianni, Aikaterini A; Perysinaki, Garyfalia G; Siomou, Ekaterini E; Sombolos, Konstantinos K; Tzanakis, Ioannis I; Vergoulas, Georgios V GV; Printza, Nicoletta N; Deltas, Constantinos C

Publication Date: 2022-11-24

Variant appearance in text: rs281874739

PubMed Link: 36553470

Variant Present in the following documents:

• genes-13-02203.pdf

View BVdb publication page

Comprehensive genetic diagnosis of Japanese patients with severe proteinuria.

Scientific Reports

Nagano, China C; Yamamura, Tomohiko T; Horinouchi, Tomoko T; Aoto, Yuya Y; Ishiko, Shinya S; Sakakibara, Nana N; Shima, Yuko Y; Nakanishi, Koichi K; Nagase, Hiroaki H; Iijima, Kazumoto K; Nozu, Kandai K

Publication Date: 2020-01-14

Variant appearance in text: COL4A5: 438+5G>A

PubMed Link: 31937884

Variant Present in the following documents:

• Main text
• 41598_2019_Article_57149.pdf
• 41598_2019_57149_MOESM1_ESM.pdf

View BVdb publication page