Yufan Guo

No. 88 Jiefang Road
Hangzhou, 310009, China

Last Updated: 09/26/2026

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Found 13 publications

KCNB1 mutation impairs neuronal differentiation by disrupting gene expression temporal regulation and neuron-specific pathways.

KCNB1 mutation impairs neuronal differentiation by disrupting gene expression temporal regulation and neuron-specific pathways.

Journal: Frontiers in neurology
Published: November 04, 2025

Novel Loss of Function Variant in SOST From Chinese Family Results in Sclerosteosis 1.

Novel Loss of Function Variant in SOST From Chinese Family Results in Sclerosteosis 1.

Journal: Molecular genetics & genomic medicine
Published: November 28, 2024

Hemizygous splicing variant in CNKSR2 results in X-linked intellectual developmental disorder.

Hemizygous splicing variant in CNKSR2 results in X-linked intellectual developmental disorder.

Journal: Molecular genetics & genomic medicine
Published: October 29, 2023

Video-based evaluation system for tic action in Tourette syndrome: modeling, detection, and evaluation.

Video-based evaluation system for tic action in Tourette syndrome: modeling, detection, and evaluation.

Journal: Health information science and systems
Published: April 26, 2023

Generation of a human iPSC line (ZJSHDPi001-A) from peripheral blood mononuclear cells of a patient with Developmental epileptic encephalopathy-47 carrying FGF12 gene mutation (c.334G > A).

Generation of a human iPSC line (ZJSHDPi001-A) from peripheral blood mononuclear cells of a patient with Developmental epileptic encephalopathy-47 carrying FGF12 gene mutation (c.334G > A).

Journal: Stem cell research
Published: February 15, 2023

A Heterozygous Variant of FGF13 Caused X-Linked Developmental and Epileptic Encephalopathy 90 in a Chinese Family.

A Heterozygous Variant of FGF13 Caused X-Linked Developmental and Epileptic Encephalopathy 90 in a Chinese Family.

Journal: Cytogenetic and genome research
Published: November 23, 2022

Tic Detection in Tourette Syndrome Patients Based on Unsupervised Visual Feature Learning.

Tic Detection in Tourette Syndrome Patients Based on Unsupervised Visual Feature Learning.

Journal: Journal of healthcare engineering
Published: March 05, 2021

Giant axonal neuropathy (GAN) in an 8-year-old girl caused by a homozygous pathogenic splicing variant in GAN gene.

Giant axonal neuropathy (GAN) in an 8-year-old girl caused by a homozygous pathogenic splicing variant in GAN gene.

Journal: American journal of medical genetics. Part A
Published: February 24, 2021

Establishment of an induced pluripotent stem cell line (ZJSHi001-A) from a patient with epileptic encephalopathy carrying KCNB1 Glu330Asp mutation.

Establishment of an induced pluripotent stem cell line (ZJSHi001-A) from a patient with epileptic encephalopathy carrying KCNB1 Glu330Asp mutation.

Journal: Stem cell research
Published: September 22, 2020

Autosomal dominant hereditary spastic paraplegia caused by mutation of UBAP1.

Autosomal dominant hereditary spastic paraplegia caused by mutation of UBAP1.

Journal: Neurogenetics
Published: February 10, 2020

Genotype and phenotype analysis using an epilepsy-associated gene panel in Chinese pediatric epilepsy patients.

Genotype and phenotype analysis using an epilepsy-associated gene panel in Chinese pediatric epilepsy patients.

Journal: Clinical genetics
Published: May 31, 2018

Q10R mutation in SCN9A gene is associated with generalized epilepsy with febrile seizures plus.

Q10R mutation in SCN9A gene is associated with generalized epilepsy with febrile seizures plus.

Journal: Seizure
Published: January 02, 2017
Showing 1-12 of 13

Last Updated: 09/26/2026