Queenie K.‐G. Tan

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Lance H. Rodan, Rebecca C. Spillmann, Harley T. Kurata et al. · Genetics in Medicine · 2021 · 47 citations · Full text

Neurobiology Of Disease, Corticobasal Degeneration, Neurological Disorder +9

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila

Lindsey D. Goodman, Heidi Cope, Zelha Nil et al. · The American Journal of Human Genetics · 2021 · 45 citations · Full text

Developmental Biology, Molecular Neuroscience, Human Developmental Delays +10

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

Daniel G. Calame, Tianyu Guo, Chen Wang et al. · The American Journal of Human Genetics · 2023 · 42 citations · Full text

Neurodegenerative Diseases, Developmental Biology, Mendelian Disorder +10

Further evidence for the involvement of <i>EFL1</i> in a Shwachman–Diamond-like syndrome and expansion of the phenotypic features

Queenie K.‐G. Tan, Heidi Cope, Rebecca C. Spillmann et al. · Molecular Case Studies · 2018 · 36 citations · Full text

Truncating variants in <i>UBAP1</i> associated with childhood‐onset nonsyndromic hereditary spastic paraplegia

Shen Gu, Chun‐An Chen, Jill A. Rosenfeld et al. · Human Mutation · 2019 · 21 citations · Full text

Truncated Protein, Rare Diseases, Mendelian Disorder +13