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: COG5: 2324C>T; Pro775Leu

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Getting Sugar Coating Right! The Role of the Golgi Trafficking Machinery in Glycosylation.

Cells

D'Souza, Zinia Z; Sumya, Farhana Taher FT; Khakurel, Amrita A; Lupashin, Vladimir V

Publication Date: 2021-11-23

Variant appearance in text: GTC90: 2324C>T

PubMed Link: 34943782

Variant Present in the following documents:

• Main text
• cells-10-03275.pdf

View BVdb publication page

---

Getting Sugar Coating Right! The Role of the Golgi Trafficking Machinery in Glycosylation.

Cells

D'Souza, Zinia Z; Sumya, Farhana Taher FT; Khakurel, Amrita A; Lupashin, Vladimir V

Publication Date: 2021-11-23

Variant appearance in text: GTC90: 2324C>T

PubMed Link: 34943782

Variant Present in the following documents:

• Main text
• cells-10-03275.pdf

View BVdb publication page

---

Golgi inCOGnito: From vesicle tethering to human disease.

Biochimica Et Biophysica Acta. General Subjects

D'Souza, Zinia Z; Taher, Farhana S FS; Lupashin, Vladimir V VV

Publication Date: 2020-11

Variant appearance in text: COG5: 2324C>T; P775L

PubMed Link: 32730773

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

Identification of Two Novel Mutations in COG5 Causing Congenital Disorder of Glycosylation.

Frontiers In Genetics

Wang, Xi X; Han, Lin L; Wang, Xiao-Yan XY; Wang, Jian-Hong JH; Li, Xiao-Meng XM; Jin, Chun-Hua CH; Wang, Lin L

Publication Date: 2020

Variant appearance in text: COG5: P775L

PubMed Link: 32174980

Variant Present in the following documents:

• Main text
• fgene-11-00168.pdf

View BVdb publication page

---

Novel compound heterozygous COG5 mutations in a Chinese male patient with severe clinical symptoms and type IIi congenital disorder of glycosylation: A case report.

Experimental And Therapeutic Medicine

Yin, Shaowei S; Gong, Liying L; Qiu, Hao H; Zhao, Yan Y; Zhang, Yan Y; Liu, Caixia C; Jiang, Hongkun H; Mao, Yan Y; Kong, Ling-Yin LY; Liang, Bo B; Lv, Yuan Y

Publication Date: 2019-10

Variant appearance in text: COG5: 2324C>T; P775L

PubMed Link: 31572517

Variant Present in the following documents:

• Main text

View BVdb publication page

---