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: 785A>G; Tyr262Cys

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: 785A>G; Tyr262Cys

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: 785A>G; Y262C

PubMed Link: 35068072

Variant Present in the following documents:

• Main text

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: KIAA1134: 785A>G

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: KIAA1134: 785A>G

PubMed Link: 34943782

Variant Present in the following documents:

• Main text
• cells-10-03275.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: 785A>G

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: 785A>G

PubMed Link: 34331832

Variant Present in the following documents:

• Main text
• MGG3-9-e1751.pdf

View BVdb publication page

---

The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: COG6: 785A>G; Tyr262Cys; rs756826030

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Genome Medicine

Stranneheim, Henrik H; Lagerstedt-Robinson, Kristina K; Magnusson, Måns M; Kvarnung, Malin M; Nilsson, Daniel D; Lesko, Nicole N; Engvall, Martin M; Anderlid, Britt-Marie BM; Arnell, Henrik H; Johansson, Carolina Backman CB; Barbaro, Michela M; Björck, Erik E; Bruhn, Helene H; Eisfeldt, Jesper J; Freyer, Christoph C; Grigelioniene, Giedre G; Gustavsson, Peter P; Hammarsjö, Anna A; Hellström-Pigg, Maritta M; Iwarsson, Erik E; Jemt, Anders A; Laaksonen, Mikael M; Enoksson, Sara Lind SL; Malmgren, Helena H; Naess, Karin K; Nordenskjöld, Magnus M; Oscarson, Mikael M; Pettersson, Maria M; Rasi, Chiara C; Rosenbaum, Adam A; Sahlin, Ellika E; Sardh, Eliane E; Stödberg, Tommy T; Tesi, Bianca B; Tham, Emma E; Thonberg, Håkan H; Töhönen, Virpi V; von Döbeln, Ulrika U; Vassiliou, Daphne D; Vonlanthen, Sofie S; Wikström, Ann-Charlotte AC; Wincent, Josephine J; Winqvist, Ola O; Wredenberg, Anna A; Ygberg, Sofia S; Zetterström, Rolf H RH; Marits, Per P; Soller, Maria Johansson MJ; Nordgren, Ann A; Wirta, Valtteri V; Lindstrand, Anna A; Wedell, Anna A

Publication Date: 2021-03-17

Variant appearance in text: COG6: 785A>G; Tyr262Cys

PubMed Link: 33726816

Variant Present in the following documents:

• 13073_2021_855_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Neonatal presentation of COG6-CDG with prominent skin phenotype.

Jimd Reports

Komlosi, Katalin K; Gläser, Selina S; Kopp, Julia J; Hotz, Alrun A; Alter, Svenja S; Zimmer, Andreas D AD; Beger, Carmela C; Heinzel, Stefan S; Schmidt, Christoph C; Fischer, Judith J

Publication Date: 2020-09

Variant appearance in text: COG6: 785A>G; Tyr262Cys

PubMed Link: 32905044

Variant Present in the following documents:

• Main text
• JMD2-55-51.pdf

View BVdb publication page

---

Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: COG6: 785A>G; Tyr262Cys

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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: 785A>G; Y262C

PubMed Link: 32730773

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: COG6: 785A>G; Tyr262Cys

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

---