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Chun-An Chen

Baylor College of Medicine
Boston Children's Hospital

18

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391

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Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations.

2020 American Journal of Medical Genetics Part A
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A framework for an evidence-based gene list relevant to autism spectrum disorder.

2020 Nature Reviews Genetics
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Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation

2018 Journal of Human Genetics
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De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features

2018 American Journal of Human Genetics
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A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

2018 Cell
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Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

2017 Nature Genetics
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Genetic causes of optic nerve hypoplasia

2017 Journal of Medical Genetics
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NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation

2015 eLife
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Author response: NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation

2015 eLife
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Recurrent 1q21.1 microdeletions associated with variable disease phenotypes

2008
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