Juanita Neira

Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients

Laura Bryant, Dong Li, Samuel G. Cox et al. · Science Advances · 2020 · 99 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Bo Yuan, Juanita Neira, Davut Pehli̇van et al. · Genetics in Medicine · 2018 · 88 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum

Taraka Donti, Gerarda Cappuccio, Leroy Hubert et al. · Molecular Genetics and Metabolism Reports · 2016 · 58 citations · Full text

Life Sciences, Biochemistry, Molecular Genetics +17

Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith–Magenis syndrome with evident peripheral neuropathy

Bo Yuan, Juanita Neira, Shen Gu et al. · Human Genetics · 2016 · 40 citations · Full text

Medicine, Genetics, Molecular Genetics +13

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

Maya Chopra, Meriel McEntagart, Jill Clayton‐Smith et al. · The American Journal of Human Genetics · 2021 · 40 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16