
Hyunyong (Howard) Koh, MD, PhD
@hyunyongkoh
Neurogenetics, physician-scientist. Dad. PGY2 @BCMChildNeuro @BCM_Pediatrics | Postdoc @BCH_PoduriLab @HarvardMed @BostonChildrens | PhD @kaistpr
ID: 1179961389089116160
https://scholar.google.com/citations?user=9XQbtqMAAAAJ&hl=en 04-10-2019 03:28:25
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Published online today. Congratulations to lead authors Jinkuk Kim, Sijae Woo, Claudio de Gusmao, and @zhaoboxun, and all of our collaborators. A brief 🧵: nature.com/articles/s4158…



Delighted our paper on polymicrogyria (PMG) is out today JAMA Neurology! How does the cortex get its shape? Great work from twitterless Shyam Akula, Allen Chen, with support from Allen Brain Evolution Center Allen Frontiers Broad Institute Boston Children's HHMI @NINDSnews


A #machinelearning classifier predicts origin of cancer of unknown primary based on #electronicrecords and #NGS data, showing that patients treated accordingly to model predictions had significantly better outcomes. Dana-Farber Broad Institute nature.com/articles/s4159…




Thrilled to share our paper in The Lancet Neurology demonstrating the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy, with many thanks to the families who participated thelancet.com/journals/laneu…

With loss of function (LoF) variation, all may not be as it seems. Led by Moriel Singer-Berk, Sanna Gudmundsson, and Heidi Rehm, we advanced the framework, from Richards et al and Abou Tayoun et al, for using PVS1 for pLoF variants in pathogenicity classification. AJHG 1/


Thrilled to see our paper on rare variant associations with plasma protein levels in the UK Biobank published in @nature today nature.com/articles/s4158… Summary statistics are publicly available at azphewas.com and an interactive portal astrazeneca-cgr-publications.github.io/pqtl-browser/i…

Truly exhilarating!!! Love seeing our colleague's hard work recognized and rewarded!....on #WorldCPDay nonetheless! Siddharth Srivastava & the Phillip R Dodge Young Investigator Award Child Neurology Society! Boston Children’s Child Neurology & NDD Residency Boston Children's #CP #childneurology #NDD
