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Publications by Yaran Wen

Corrigendum: Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis

Nature Genetics

English

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Exome Sequencing Identified a Missense Mutation ofEPS8L3in Marie Unna Hereditary Hypotrichosis

Journal of Medical Genetics

English

Loss-Of-Function Mutations in Sodium Channel Nav1.7 Cause Anosmia

Multidisciplinary

English

Carrier Frequency of the GJB2 Mutations That Cause Hereditary Hearing Loss in the Japanese Population

Journal of Human Genetics

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Loss-Of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome

American Journal of Human Genetics

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Homozygous Loss-Of-Function Mutations in SLC26A7 Cause Goitrous Congenital Hypothyroidism

Yearbook of Paediatric Endocrinology

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Corrigendum: Gain-Of-Function SOS1 Mutations Cause a Distinctive Form of Noonan Syndrome

Nature Genetics

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Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

American Journal of Human Genetics

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Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

American Journal of Human Genetics

English

Loss-Of-Function Mutations in UDP-Glucose 6-Dehydrogenase Cause Recessive Developmental Epileptic Encephalopathy

Nature Communications

Molecular Biology

English