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 | 3 | 2024 |
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 | 1 | 2024 |
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 | 1 | 2024 |
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 | 1 | 2024 |
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 | 2 | 2023 |
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 | 2 | 2023 |
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 | 2 | 2023 |
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 | 32 | 2023 |
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 | 1 | 2023 |