Co-Authors
This is a "connection" page, showing publications co-authored by HUGO BELLEN and Shenzhao Lu.
Connection Strength
3.579
-
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement. Am J Hum Genet. 2022 10 06; 109(10):1932-1943.
Score: 0.899
-
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma. Genet Med. 2024 Mar 21; 101125.
Score: 0.249
-
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features. Am J Hum Genet. 2024 Apr 04; 111(4):742-760.
Score: 0.248
-
De novo variants in PLCG1 are associated with hearing impairment, ocular pathology, and cardiac defects. medRxiv. 2024 Jan 09.
Score: 0.245
-
Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays. Elife. 2023 Dec 11; 12.
Score: 0.244
-
Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays. medRxiv. 2023 Oct 02.
Score: 0.241
-
Very-long-chain fatty acids induce glial-derived sphingosine-1-phosphate synthesis, secretion, and neuroinflammation. Cell Metab. 2023 05 02; 35(5):855-874.e5.
Score: 0.233
-
Sphingolipids in neurodegenerative diseases. Front Neurosci. 2023; 17:1137893.
Score: 0.230
-
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability. Am J Hum Genet. 2022 10 06; 109(10):1923-1931.
Score: 0.223
-
Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms. Hum Mol Genet. 2022 08 23; 31(16):2751-2765.
Score: 0.223
-
'Fly-ing' from rare to common neurodegenerative disease mechanisms. Trends Genet. 2022 09; 38(9):972-984.
Score: 0.218
-
Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures. Am J Hum Genet. 2022 04 07; 109(4):571-586.
Score: 0.216
-
The fly homolog of SUPT16H, a gene associated with neurodevelopmental disorders, is required in a cell-autonomous fashion for cell survival. Hum Mol Genet. 2023 03 06; 32(6):984-997.
Score: 0.058
-
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila. Am J Hum Genet. 2021 09 02; 108(9):1669-1691.
Score: 0.052