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Eric Vilain
Eric Vilain
Professor of Human Genetics, UCLA
在 ucla.edu 的电子邮件经过验证
标题
引用次数
年份
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
Y Chen, R Dawes, HC Kim, A Ljungdahl, SL Stenton, S Walker, J Lord, ...
Nature, 1-3, 2024
2024
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing
JX Chong, SI Berger, S Baxter, E Smith, C Xiao, DG Calame, MH Hawley, ...
Genetics in Medicine, 101199, 2024
2024
A genome-wide spectrum of tandem repeat expansions in 338,963 humans
Y Cui, W Ye, JS Li, JJ Li, E Vilain, T Sallam, W Li
Cell 187 (9), 2336-2341. e5, 2024
32024
Genome-wide profiling of highly similar paralogous genes using HiFi sequencing
X Chen, D Baker, E Dolzhenko, JM Devaney, J Noya, AS Berlyoung, ...
bioRxiv, 2024.04. 19.590294, 2024
2024
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders
Y Chen, R Dawes, HC Kim, SL Stenton, S Walker, A Ljungdahl, J Lord, ...
medRxiv, 2024
12024
Reprograming skin fibroblasts into Sertoli cells: a patient-specific tool to understand effects of genetic variants on gonadal development
A Parivesh, E Délot, A Reyes, J Ryan, S Bhattacharya, V Harley, E Vilain
Biology of sex Differences 15 (1), 24, 2024
2024
Multi-stakeholder opinion statement on the care of individuals born with differences of sex development: common ground and opportunities for improvement
M Cools, EY Cheng, J Hall, J Alderson, AMA Oelschlager, AH Balen, ...
Horm Res Paediatr, 2024
12024
Using a chat-based informed consent tool in large-scale genomic research
SK Savage, J LoTempio, ED Smith, EH Andrew, G Mas, AH Kahn-Kirby, ...
Journal of the American Medical Informatics Association 31 (2), 472-478, 2024
12024
Building a growing genomic data repository for maternal and fetal health through the PING Consortium
C Abdelmalek, B Fasil, S Singh, A Horvath, S Mulkey, C Cure, M Campos, ...
medRxiv, 2024.05. 24.24307899, 2024
2024
P821: Long-read sequencing resolves CYP21A2 alleles in congenital adrenal hyperplasia
E Délot, J Monlong, X Chen, H Barseghyan, S Bhattacharya, J LoTempio, ...
Genetics in Medicine Open 2, 2024
2024
P204: Primary care electronic medical record features predicting genetics referrals
CH Hernandez, N Duong, A Cohen, E Rajah, E Vilain, D Felten, ...
Genetics in Medicine Open 2, 2024
2024
Development and Implementation of Novel Chatbot-based Genomic Research Consent
E Smith, S Savage, H Andrew, GM Martin, A Kahn-Kirby, J LoTempio, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 32, 71-71, 2024
2024
De novo genome assemblies from Congolese participants show placement of novel sequence and structure relative to the reference genome
J LoTempio, K Mosema, DA Spencer, K Karume, M Almalvez, C Musasa, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 32, 624-624, 2024
2024
Pregnancy stressors such as exposure to the COVID19 pandemic or fetal congenital heart defect are associated with genome-wide epigenetic changes in the newborn
K Kocher, S Bhattacharya, N Niforatos-Andescavage, E Vilain, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 32, 732-732, 2024
2024
Open Science? Conceptualizing Openness as an Emerging Moral Economy of Science
T König, E Vilain, J LoTempio
Verlag der Technischen Universität Graz, 2024
2024
Benchmarking long-read genome sequence alignment tools for human genomics applications
J LoTempio, E Delot, E Vilain
PeerJ 11, e16515, 2023
22023
Genome-wide neonatal epigenetic changes associated with maternal exposure to the COVID-19 pandemic
K Kocher, S Bhattacharya, N Niforatos-Andescavage, M Almalvez, ...
BMC medical genomics 16 (1), 268, 2023
22023
Increased diagnostic yield from negative whole genome‐slice panels using automated reanalysis
SI Berger, G Pitsava, AJ Cohen, EC Délot, J LoTempio, EH Andrew, ...
Clinical genetics 104 (3), 377-383, 2023
22023
Beyond the exome: what’s next in diagnostic testing for Mendelian conditions
MH Wojcik, CM Reuter, S Marwaha, M Mahmoud, MH Duyzend, ...
The American Journal of Human Genetics 110 (8), 1229-1248, 2023
322023
Optical genome mapping identifies a novel pediatric embryonal tumor with a ZNF532::NUTM1 fusion
M Bornhorst, A Eze Jr, S Bhattacharya, E Putnam, MI Almira‐Suarez, ...
The Journal of pathology 260 (3), 329-338, 2023
12023
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