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: COG6: 388C>T; Gln130Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

The Swedish COG6-CDG experience and a comprehensive literature review.

Jimd Reports

Xia, Zhi-Jie ZJ; Ng, Bobby G BG; Jennions, Elizabeth E; Blomqvist, Maria M; Sandqvist Wiklund, Anneli A; Hedberg-Oldfors, Carola C; Gonzalez, Carlos Rodriguez CR; Freeze, Hudson H HH; Ygberg, Sofia S; Eklund, Erik A EA

Publication Date: 2023-01

Variant appearance in text: COG6: Gln130*

PubMed Link: 36636598

Variant Present in the following documents:

• Main text
• JMD2-64-79.pdf

View BVdb publication page

---

COG6-CDG: Novel variants and novel malformation.

Birth Defects Research

Cirnigliaro, Lara L; Bianchi, Paolo P; Sturiale, Luisa L; Garozzo, Domenico D; Mangili, Giovanna G; Keldermans, Liesbeth L; Rizzo, Renata R; Matthijs, Gert G; Fiumara, Agata A; Jaeken, Jaak J; Barone, Rita R

Publication Date: 2022-03

Variant appearance in text: COG6: 388C>T; Q130*

PubMed Link: 35068072

Variant Present in the following documents:

• Main text
• BDR2-114-165.pdf

View BVdb publication page

---

Genetic analysis and prenatal diagnosis in a Chinese with growth retardation, abnormal liver function, and microcephaly.

Molecular Genetics & Genomic Medicine

Zhao, Peiwei P; Zhang, Lei L; Tan, Li L; Luo, Sukun S; Huang, Yufeng Y; Peng, Hanming H; Cao, Jiangxia J; He, Xuelian X

Publication Date: 2021-09

Variant appearance in text: COG6: 388C>T; Q130X

PubMed Link: 34331832

Variant Present in the following documents:

• Main text
• MGG3-9-e1751.pdf

View BVdb publication page

---

Genetic analysis and prenatal diagnosis in a Chinese with growth retardation, abnormal liver function, and microcephaly.

Molecular Genetics & Genomic Medicine

Zhao, Peiwei P; Zhang, Lei L; Tan, Li L; Luo, Sukun S; Huang, Yufeng Y; Peng, Hanming H; Cao, Jiangxia J; He, Xuelian X

Publication Date: 2021-09

Variant appearance in text: COG6: 388C>T; Q130X

PubMed Link: 34331832

Variant Present in the following documents:

• Main text
• MGG3-9-e1751.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: COG6: 388C>T

PubMed Link: 32730773

Variant Present in the following documents:

• main.pdf

View BVdb publication page

---