Yong-Han Hank Cheng

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish

Julie C. Van De Weghe, Tamara D. S. Rusterholz, Brooke Latour et al. · The American Journal of Human Genetics · 2017 · 89 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction

Miroslav P. Milev, Megan E. Grout, Djenann Saint‐Dic et al. · The American Journal of Human Genetics · 2017 · 55 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

<i>SUFU</i> haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum

Valentina Serpieri, Fulvio D’Abrusco, Jennifer C. Dempsey et al. · Journal of Medical Genetics · 2021 · 36 citations · Full text

Life Sciences, Genetics, Neurology +17

Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition

Mitchell R. Vollger, Jonas Korlach, Kiara C. Eldred et al. · Nature Genetics · 2025 · 32 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

TDP-43 proteinopathy in ALS is triggered by loss of ASRGL1 and associated with HML-2 expression

Marta García‐Montojo, Cyrus Rastegar, Elena Rita Simula et al. · Nature Communications · 2024 · 28 citations · Full text

Life Sciences, Neurology, Neuroscience +17