Juanita Neira

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Bo Yuan, Juanita Neira, Davut Pehli̇van et al. · Genetics in Medicine · 2018 · 87 citations · Full text

Bioinformatics, Mendelian Disorder, Genetic Disorder +10

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 · 53 citations · Full text

Genetics, Metabolomic Profiling, Pathology +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

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 · 36 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +7

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder

Sébastien Küry, Frédéric Ebstein, Alice Mollé et al. · The American Journal of Human Genetics · 2022 · 22 citations · Full text

Developmental Biology, Molecular Neuroscience, Syndromic Neurodevelopmental Disorder +9