Yong-Han Hank Cheng
5PUBLICATIONS
42CO-AUTHORS
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Publications (5)
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|Nov 26, 2025
Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions.Yong-Han Hank Cheng, Adriana E Sedeño-Cortés, Jane E Ranchalis
|Jan 29, 2025
Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition.Mitchell R Vollger, Jonas Korlach, Kiara C Eldred
|May 16, 2024
TDP-43 proteinopathy in ALS is triggered by loss of ASRGL1 and associated with HML-2 expression.Marta Garcia-Montojo, Saeed Fathi, Cyrus Rastegar
|Mar 04, 2024
Functional categorization of gene regulatory variants that cause Mendelian conditions.Y H Hank Cheng, Stephanie C Bohaczuk, Andrew B Stergachis
|Oct 22, 2021
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.Valentina Serpieri, Fulvio D'Abrusco, Jennifer C Dempsey
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Frequent Collaborators
3 joint publications
Andrew B Stergachis
2 joint publications
Katherine M Munson
2 joint publications
Elizabeth E Blue
2 joint publications
Mitchell R Vollger
1 joint publications
Stephanie C Bohaczuk
1 joint publications
Marta Garcia-Montojo
1 joint publications
Anne O'Donnell-Luria
1 joint publications
Elena Rita Simula
1 joint publications
Tara Doucet-O'Hare
1 joint publications
Nicholas Pasternack
