Mullin H.C. Yu

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

F. Kyle Satterstrom, Jack A. Kosmicki, Jiebiao Wang et al. · Cell · 2020 · 2.5K citations · Full text

Medicine, Genetics, Neurobiology +17

A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis

Jasmine Lee Fong Fung, Mullin H.C. Yu, Shushu Huang et al. · npj Genomic Medicine · 2020 · 82 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs

Claudia Ching Yan Chung, Gordon K. C. Leung, Christopher Chun Yu Mak et al. · The Lancet Regional Health - Western Pacific · 2020 · 68 citations · Full text

Life Sciences, Genetics, Pediatrics +17

Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

F. Kyle Satterstrom, Jack A. Kosmicki, Jiebiao Wang et al. · bioRxiv (Cold Spring Harbor Laboratory) · 2018 · 62 citations

Medicine, Genetics, Neurobiology +17

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

Christopher Chun Yu Mak, Dan Doherty, Angela E. Lin et al. · Brain · 2019 · 54 citations · Full text

Medicine, Genetics, Molecular Genetics +17