Publications:

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COG4 mutation in Saul-Wilson syndrome selectively affects secretion of proteins involved in chondrogenesis in chondrocyte-like cells.

Frontiers In Cell And Developmental Biology

Xia, Zhi-Jie ZJ; Mahajan, Sonal S; Paul Daniel, Earnest James EJ; Ng, Bobby G BG; Saraswat, Mayank M; Campos, Alexandre Rosa AR; Murad, Rabi R; He, Miao M; Freeze, Hudson H HH

Publication Date: 2022

Variant appearance in text: COG4: G516R

PubMed Link: 36393834

Variant Present in the following documents:

• Main text
• fcell-10-979096.pdf

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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: COG4: 1546G>A; Gly516Arg

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: COG4: 1546G>A; G516R

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

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Systematic Review: Drug Repositioning for Congenital Disorders of Glycosylation (CDG).

International Journal Of Molecular Sciences

Brasil, Sandra S; Allocca, Mariateresa M; Magrinho, Salvador C M SCM; Santos, Inês I; Raposo, Madalena M; Francisco, Rita R; Pascoal, Carlota C; Martins, Tiago T; Videira, Paula A PA; Pereira, Florbela F; Andreotti, Giuseppina G; Jaeken, Jaak J; Kantautas, Kristin A KA; Perlstein, Ethan O EO; Ferreira, Vanessa Dos Reis VDR

Publication Date: 2022-08-05

Variant appearance in text: COG4: G516R

PubMed Link: 35955863

Variant Present in the following documents:

• ijms-23-08725.pdf

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Clonal dynamics of haematopoiesis across the human lifespan.

Nature

Mitchell, Emily E; Spencer Chapman, Michael M; Williams, Nicholas N; Dawson, Kevin J KJ; Mende, Nicole N; Calderbank, Emily F EF; Jung, Hyunchul H; Mitchell, Thomas T; Coorens, Tim H H THH; Spencer, David H DH; Machado, Heather H; Lee-Six, Henry H; Davies, Megan M; Hayler, Daniel D; Fabre, Margarete A MA; Mahbubani, Krishnaa K; Abascal, Federico F; Cagan, Alex A; Vassiliou, George S GS; Baxter, Joanna J; Martincorena, Inigo I; Stratton, Michael R MR; Kent, David G DG; Chatterjee, Krishna K; Parsy, Kourosh Saeb KS; Green, Anthony R AR; Nangalia, Jyoti J; Laurenti, Elisa E; Campbell, Peter J PJ

Publication Date: 2022-06

Variant appearance in text: COG4: G516R

PubMed Link: 35650442

Variant Present in the following documents:

• 41586_2022_4786_MOESM11_ESM.xlsx, sheet 1

View BVdb publication page

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Severe Cranio-Cervical Stenosis in a Child with Saul-Wilson Syndrome: A Case Report.

Children (Basel, Switzerland)

Koruga, Nenad N; Pušeljić, Silvija S; Tomac, Višnja V; Soldo Koruga, Anamarija A; Marjanac, Igor I; Biljan, Borna B; Šantić, Krešimir K; Lenz, Ivana I; Pušeljić, Nora N

Publication Date: 2022-04-08

Variant appearance in text: COG4: 1546G>A; Gly516Arg

PubMed Link: 35455576

Variant Present in the following documents:

• Main text
• children-09-00532.pdf

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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: COG4: 1546G>A; G516R

PubMed Link: 34943782

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: COG4: 1546G>A; G516R

PubMed Link: 34943782

Variant Present in the following documents:

• Main text

View BVdb publication page

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Development and Initial Characterization of Cellular Models for COG Complex-Related CDG-II Diseases.

Frontiers In Genetics

Sumya, Farhana Taher FT; Pokrovskaya, Irina D ID; Lupashin, Vladimir V

Publication Date: 2021

Variant appearance in text: COG4: G516R

PubMed Link: 34603392

Variant Present in the following documents:

• Main text
• fgene-12-733048.pdf

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A Dominant Heterozygous Mutation in COG4 Causes Saul-Wilson Syndrome, a Primordial Dwarfism, and Disrupts Zebrafish Development via Wnt Signaling.

Frontiers In Cell And Developmental Biology

Xia, Zhi-Jie ZJ; Zeng, Xin-Xin I XI; Tambe, Mitali M; Ng, Bobby G BG; Dong, P Duc S PDS; Freeze, Hudson H HH

Publication Date: 2021

Variant appearance in text: COG4: G516R

PubMed Link: 34595172

Variant Present in the following documents:

• Main text

View BVdb publication page

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Saul-Wilson Syndrome Missense Allele Does Not Show Obvious Golgi Defects in a C. elegans Model.

Micropublication Biology

Zafra, Isabella I; Nebenfuehr, Benjamin B; Golden, Andy A

Publication Date: 2021-03-04

Variant appearance in text: COG4: G516R

PubMed Link: 33688625

Variant Present in the following documents:

• Main text
• 25789430-2021-micropub.biology.000373.pdf

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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: COG4: 1546G>A; G516R

PubMed Link: 32730773

Variant Present in the following documents:

• Main text
• main.pdf

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Sugary Logistics Gone Wrong: Membrane Trafficking and Congenital Disorders of Glycosylation.

International Journal Of Molecular Sciences

Linders, Peter T A PTA; Peters, Ella E; Ter Beest, Martin M; Lefeber, Dirk J DJ; van den Bogaart, Geert G

Publication Date: 2020-06-30

Variant appearance in text: COG4: G516R

PubMed Link: 32629928

Variant Present in the following documents:

• Main text

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The undiagnosed diseases program: Approach to diagnosis.

Translational Science Of Rare Diseases

Macnamara, Ellen F EF; D'Souza, Precilla P; , ; Tifft, Cynthia J CJ

Publication Date: 2020-04-13

Variant appearance in text: COG4: Gly516Arg

PubMed Link: 32477883

Variant Present in the following documents:

• Main text
• trd-4-trd190045.pdf

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Defining the clinical phenotype of Saul-Wilson syndrome.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Ferreira, Carlos R CR; Zein, Wadih M WM; Huryn, Laryssa A LA; Merker, Andrea A; Berger, Seth I SI; Wilson, William G WG; Tiller, George E GE; Wolfe, Lynne A LA; Merideth, Melissa M; Carvalho, Daniel R DR; Duker, Angela L AL; Bratke, Heiko H; Haug, Marte Gjøl MG; Rohena, Luis L; Hove, Hanne B HB; Xia, Zhi-Jie ZJ; Ng, Bobby G BG; Freeze, Hudson H HH; Gabriel, Melissa M; Russi, Alvaro H Serrano AHS; Brick, Lauren L; Kozenko, Mariya M; Earl, Dawn L DL; Tham, Emma E; Nishimura, Gen G; Phillips, John A JA; Gahl, William A WA; Hamid, Rizwan R; Jackson, Andrew P AP; Grigelioniene, Giedre G; Bober, Michael B MB

Publication Date: 2020-05

Variant appearance in text: COG4: Gly516Arg

PubMed Link: 31949312

Variant Present in the following documents:

• Main text
• nihms-1550516.pdf

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Maintaining order: COG complex controls Golgi trafficking, processing, and sorting.

Febs Letters

Blackburn, Jessica B JB; D'Souza, Zinia Z; Lupashin, Vladimir V VV

Publication Date: 2019-09

Variant appearance in text: COG4: G516R

PubMed Link: 31381138

Variant Present in the following documents:

• Main text
• FEB2-593-2466.pdf

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A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.

American Journal Of Human Genetics

Ferreira, Carlos R CR; Xia, Zhi-Jie ZJ; Clément, Aurélie A; Parry, David A DA; Davids, Mariska M; Taylan, Fulya F; Sharma, Prashant P; Turgeon, Coleman T CT; Blanco-Sánchez, Bernardo B; Ng, Bobby G BG; Logan, Clare V CV; Wolfe, Lynne A LA; Solomon, Benjamin D BD; Cho, Megan T MT; Douglas, Ganka G; Carvalho, Daniel R DR; Bratke, Heiko H; Haug, Marte Gjøl MG; Phillips, Jennifer B JB; Wegner, Jeremy J; Tiemeyer, Michael M; Aoki, Kazuhiro K; , ; , ; Nordgren, Ann A; Hammarsjö, Anna A; Duker, Angela L AL; Rohena, Luis L; Hove, Hanne Buciek HB; Ek, Jakob J; Adams, David D; Tifft, Cynthia J CJ; Onyekweli, Tito T; Weixel, Tara T; Macnamara, Ellen E; Radtke, Kelly K; Powis, Zöe Z; Earl, Dawn D; Gabriel, Melissa M; Russi, Alvaro H Serrano AHS; Brick, Lauren L; Kozenko, Mariya M; Tham, Emma E; Raymond, Kimiyo M KM; Phillips, John A JA; Tiller, George E GE; Wilson, William G WG; Hamid, Rizwan R; Malicdan, May C V MCV; Nishimura, Gen G; Grigelioniene, Giedre G; Jackson, Andrew A; Westerfield, Monte M; Bober, Michael B MB; Gahl, William A WA; Freeze, Hudson H HH

Publication Date: 2018-10-04

Variant appearance in text: COG4: 1546G>A; Gly516Arg

PubMed Link: 30290151

Variant Present in the following documents:

• Main text

View BVdb publication page

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