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Designing highly multiplex PCR primer sets with Simulated Annealing Design using Dimer Likelihood Estimation (SADDLE)

Nature communications, 2022-04, Vol.13 (1), p.1881-1881, Article 1881

2022

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Partial loss of psychiatric risk gene Mir137 in mice causes repetitive behavior and impairs sociability and learning via increased Pde10a

Nature neuroscience, 2018-12, Vol.21 (12), p.1689-1703

2018

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An Exploration of the Application of Natural Language Processing Technology in the Quality Enhancement of Cross-Cultural Language Conversion

Applied mathematics and nonlinear sciences, 2024-01, Vol.9 (1)

2024

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N6-Methyladenosine in RNA and DNA: An Epitranscriptomic and Epigenetic Player Implicated in Determination of Stem Cell Fate

Stem cells international, 2018-01, Vol.2018 (2018), p.1-18

2018

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Reactivation of FMR1 by CRISPR/Cas9-Mediated Deletion of the Expanded CGG-Repeat of the Fragile X Chromosome

PloS one, 2016-10, Vol.11 (10), p.e0165499-e0165499

2016

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Novel Epigenetic Techniques Provided by the CRISPR/Cas9 System

Stem cells international, 2018-01, Vol.2018 (2018), p.1-12

2018

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High-Throughput Variant Detection Using a Color-Mixing Strategy

The Journal of molecular diagnostics : JMD, 2022-08, Vol.24 (8), p.878-892

2022

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High clinical heterogeneity in a Chinese pedigree of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S)

Orphanet journal of rare diseases, 2021-01, Vol.16 (1), p.56-56, Article 56

2021

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Non-coding RNA in Fragile X Syndrome and Converging Mechanisms Shared by Related Disorders

Frontiers in genetics, 2019-03, Vol.10, p.139

2019

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Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions

Genetics in medicine, 2020-11, Vol.22 (11), p.1768-1776

2020

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Alzheimer's Disease: From Genetic Variants to the Distinct Pathological Mechanisms

Frontiers in molecular neuroscience, 2017-10, Vol.10, p.319-319

2017

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Age of onset correlates with clinical characteristics and prognostic outcomes in neuromyelitis optica spectrum disorder

Frontiers in immunology, 2022-12, Vol.13, p.1056944-1056944

2022

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NOTCH3 Variants and Genotype-Phenotype Features in Chinese CADASIL Patients

Frontiers in genetics, 2021-07, Vol.12, p.705284-705284

2021

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A 51-Year-Old Woman With Abnormal Corpus Callosum Signal

JAMA neurology, 2024-02, Vol.81 (2), p.192

2024

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Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism in Families with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

The Journal of molecular diagnostics : JMD, 2020-04, Vol.22 (4), p.447-456

2020

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Induced Pluripotent Stem Cells: Generation Strategy and Epigenetic Mystery behind Reprogramming

Stem cells international, 2016-01, Vol.2016 (2016), p.1-11

2016

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The Application of Human iPSCs in Neurological Diseases: From Bench to Bedside

Stem cells international, 2016-01, Vol.2016 (2016), p.1-10

2016

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Clinical Reasoning: Longitudinally Extensive Spinal Cord Lesions in a Middle-aged Man

Neurology, 2022-03, Vol.98 (10), p.419-424

2022

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Unresolving fever, headache, cough, and negative covid-19 PCR result

BMJ (Online), 2022-05, Vol.377, p.e068645

2022

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A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins

American journal of medical genetics. Part A, 2019-11, Vol.179 (11), p.2272-2276

2019

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Chorea-Acanthocytosis in a Chinese Family With a Pseudo-Dominant Inheritance Mode

Frontiers in neurology, 2018-07, Vol.9, p.594

2018

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Ensemble of nucleic acid absolute quantitation modules for copy number variation detection and RNA profiling

Nature communications, 2022-04, Vol.13 (1), p.1791-9, Article 1791

2022

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A 13-Year-Old Boy With Subacute-Onset Spastic Gait

JAMA neurology, 2021-09, Vol.78 (9), p.1151

2021

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Retinopathy With Multiple Cerebral Ring-Enhancing Lesions in a Young Man

JAMA ophthalmology, 2021-02, Vol.139 (2), p.236

2021

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Clinical Reasoning: A 50-Year-Old Man With Progressive Limb Weakness and Slurred Speech

Neurology, 2022-04, Vol.98 (14), p.592-596

2022

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Designing highly multiplex PCR primer sets with Simulated Annealing Design using Dimer Likelihood Estimation (SADDLE)

Partial loss of psychiatric risk gene Mir137 in mice causes repetitive behavior and impairs sociability and learning via increased Pde10a

An Exploration of the Application of Natural Language Processing Technology in the Quality Enhancement of Cross-Cultural Language Conversion

N6-Methyladenosine in RNA and DNA: An Epitranscriptomic and Epigenetic Player Implicated in Determination of Stem Cell Fate

Reactivation of FMR1 by CRISPR/Cas9-Mediated Deletion of the Expanded CGG-Repeat of the Fragile X Chromosome

Novel Epigenetic Techniques Provided by the CRISPR/Cas9 System

High-Throughput Variant Detection Using a Color-Mixing Strategy

High clinical heterogeneity in a Chinese pedigree of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S)

Non-coding RNA in Fragile X Syndrome and Converging Mechanisms Shared by Related Disorders

Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions

Alzheimer's Disease: From Genetic Variants to the Distinct Pathological Mechanisms

Age of onset correlates with clinical characteristics and prognostic outcomes in neuromyelitis optica spectrum disorder

NOTCH3 Variants and Genotype-Phenotype Features in Chinese CADASIL Patients

A 51-Year-Old Woman With Abnormal Corpus Callosum Signal

Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism in Families with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

Induced Pluripotent Stem Cells: Generation Strategy and Epigenetic Mystery behind Reprogramming

The Application of Human iPSCs in Neurological Diseases: From Bench to Bedside

Clinical Reasoning: Longitudinally Extensive Spinal Cord Lesions in a Middle-aged Man

Unresolving fever, headache, cough, and negative covid-19 PCR result

A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins

Chorea-Acanthocytosis in a Chinese Family With a Pseudo-Dominant Inheritance Mode

Ensemble of nucleic acid absolute quantitation modules for copy number variation detection and RNA profiling

A 13-Year-Old Boy With Subacute-Onset Spastic Gait

Retinopathy With Multiple Cerebral Ring-Enhancing Lesions in a Young Man

Clinical Reasoning: A 50-Year-Old Man With Progressive Limb Weakness and Slurred Speech

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