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Publications by Sheng Deng

Exome Sequencing of a Pedigree Reveals S339L Mutation in the TLN2 Gene as a Cause of Fifth Finger Camptodactyly

Multidisciplinary

English

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Whole-Exome Sequencing Reveals a Rare Missense Variant in SLC16A9 in a Pedigree With Early-Onset Gout

BioMed Research International

Molecular Biology

English

Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree With Dominant Axonal Charcot-Marie-Tooth Disease

American Journal of Human Genetics

English

Whole-Exome Sequencing to Identify the Cause of Congenital Sensorineural Hearing Loss in Carriers of a Heterozygous GJB2 Mutation

European Archives of Oto-Rhino-Laryngology

Otorhinolaryngology

English

Exome Sequencing Reveals a Heterozygous OAS3 Mutation in a Chinese Family With Juvenile-Onset Open-Angle Glaucoma

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

Sensory Systems

English

Whole Exome Sequencing Reveals a Mutation in CRYBB2 in a Large Mexican Family With Autosomal Dominant Pulverulent Cataract

Molecular Syndromology

English

Exome Sequencing Reveals a Novel MFN2 Missense Mutation in a Chinese Family With Charcot‑Marie‑Tooth Type 2A

Experimental and Therapeutic Medicine

Cancer Research

English

Exome Sequencing Identifies MPL as a Causative Gene in Familial Aplastic Anemia

English

Mast-Cell Leukemia Exome Sequencing Reveals a Mutation in the IgE Mast-Cell Receptor Β Chain and KIT V654A

Cancer Research

English

Exome Sequencing Reveals Germline Gain-Of-Function EGFR Mutation in an Adult With Lhermitte-Duclos Disease

Cold Spring Harbor molecular case studies

Molecular Medicine

English