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: SYNJ1: 2663A>G; Tyr888Cys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro-Caribbean individual.

Molecular Genetics & Genomic Medicine

Maj, Mary M; Taylor, Christie L CL; Landau, Kevin K; Toriello, Helga V HV; Li, Dong D; Bhoj, Elizabeth J EJ; Hakonarson, Hakon H; Nelson, Beverly B; Gluschitz, Sarah S; Walker, Ruth H RH; Sobering, Andrew K AK

Publication Date: 2022-09-23

Variant appearance in text: SYNJ1: 2663A>G; Tyr888Cys

PubMed Link: 36148638

Variant Present in the following documents:

• MGG3-11-e2064-s001.xlsx, sheet 1

View BVdb publication page

---

Mini-review: Synaptojanin 1 and its implications in membrane trafficking.

Neuroscience Letters

Choudhry, Hassaam H; Aggarwal, Meha M; Pan, Ping-Yue PY

Publication Date: 2021-11-20

Variant appearance in text: SYNJ1: Y888C

PubMed Link: 34637856

Variant Present in the following documents:

• Main text
• nihms-1747915.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: SYNJ1: 2663A>G; Tyr888Cys

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 5
• aba1773_Data_file_S1.xlsx, sheet 4
• aba1773_Data_file_S1.xlsx, sheet 2
• aba1773_Data_file_S1.xlsx, sheet 3

View BVdb publication page

---

SYNJ1 gene associated with neonatal onset of neurodegenerative disorder and intractable seizure.

Molecular Genetics & Genomic Medicine

Al Zaabi, Nuha N; Al Menhali, Noora N; Al-Jasmi, Fatma F

Publication Date: 2018-01

Variant appearance in text: SYNJ1: 2663A>G

PubMed Link: 29179256

Variant Present in the following documents:

• Main text
• MGG3-6-109.pdf

View BVdb publication page

---

Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.

Brain : A Journal Of Neurology

Hardies, Katia K; Cai, Yiying Y; Jardel, Claude C; Jansen, Anna C AC; Cao, Mian M; May, Patrick P; Djémié, Tania T; Hachon Le Camus, Caroline C; Keymolen, Kathelijn K; Deconinck, Tine T; Bhambhani, Vikas V; Long, Catherine C; Sajan, Samin A SA; Helbig, Katherine L KL; , ; Suls, Arvid A; Balling, Rudi R; Helbig, Ingo I; De Jonghe, Peter P; Depienne, Christel C; De Camilli, Pietro P; Weckhuysen, Sarah S

Publication Date: 2016-09

Variant appearance in text: SYNJ1: 2663A>G; Tyr888Cys

PubMed Link: 27435091

Variant Present in the following documents:

• Main text

View BVdb publication page

---