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Next-generation sequencing identifies rare variants associated with Noonan syndrome

Proceedings of the National Academy of Sciences - PNAS, 2014-08, Vol.111 (31), p.11473-11478

2014

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Autosomal dominant epidermolysis bullosa simplex exacerbated by hyperkeratotic scabies

Journal of dermatology, 2022-08, Vol.49 (8), p.e283-e284

2022

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Novel compound heterozygous ITGB4 mutations underlie lethal junctional epidermolysis bullosa with pyloric atresia and aplasia cutis congenita

Journal of dermatology, 2022-05, Vol.49 (5), p.e154-e156

2022

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FGF primes angioblast formation by inducing ETV2 and LMO2 via FGFR1/BRAF/MEK/ERK

Cellular and molecular life sciences : CMLS, 2021-03, Vol.78 (5), p.2199-2212

2021

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The dual PI3K/mTOR inhibitor NVP-BEZ235 induces tumor regression in a genetically engineered mouse model of PIK3CA wild-type colorectal cancer

PloS one, 2011-09, Vol.6 (9), p.e25132-e25132

2011

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Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients

Orphanet journal of rare diseases, 2022-12, Vol.17 (1), p.451-451, Article 451

2022

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NOX2-Deficient Neutrophils Facilitate Joint Inflammation Through Higher Pro-Inflammatory and Weakened Immune Checkpoint Activities

Frontiers in immunology, 2021-09, Vol.12, p.743030-743030

2021

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A novel pathogenic mutation on Interleukin-7 receptor leading to severe combined immunodeficiency identified with newborn screening and whole exome sequencing

Journal of microbiology, immunology and infection, 2020-02, Vol.53 (1), p.99-105

2020

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Complexity of Transcriptional and Translational Interference of Laminin-332 Subunits in Junctional Epidermolysis Bullosa with LAMB3 Mutations

Acta dermato-venereologica, 2021-08, Vol.101 (8), p.adv00522-adv00522

2021

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Plectin Missense Mutation p.Leu319Pro in the Pathogenesis of Autosomal Recessive Epidermolysis Bullosa Simplex

Acta dermato-venereologica, 2020-08, Vol.100 (15), p.adv00242-adv00242

2020

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New Structural and Single Nucleotide Mutations in Type I and Type II Collagens in Taiwanese Children With Type I and Type II Collagenopathies

Frontiers in genetics, 2021-07, Vol.12, p.594285-594285

2021

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Whole-Exome Sequencing Identified Rare Genetic Variants Associated with Undervirilized Genitalia in Taiwanese Pediatric Patients

Biomedicines, 2023-01, Vol.11 (2), p.242

2023

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Rare Compound Heterozygous Frameshift Mutations in ALMS1 Gene Identified Through Exome Sequencing in a Taiwanese Patient With Alström Syndrome

Frontiers in genetics, 2018-04, Vol.9, p.110

2018

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Probiotics-Containing Yogurt Ingestion and H. pylori Eradication Can Restore Fecal Faecalibacterium prausnitzii Dysbiosis in H. pylori-Infected Children

Biomedicines, 2020-06, Vol.8 (6), p.146

2020

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Contributions by MutL homologues Mlh3 and Pms2 to DNA mismatch repair and tumor suppression in the mouse

Cancer research (Chicago, Ill.), 2005-10, Vol.65 (19), p.8662-8670

2005

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Profibrotic Subsets of SPP1+ Macrophages and POSTN+ Fibroblasts Contribute to Fibrotic Scarring in Acne Keloidalis

Journal of investigative dermatology, 2024-01

2024

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The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer

Nature genetics, 2004-07, Vol.36 (7), p.694-699

2004

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Novel SLC5A6 mutations lead to B lymphocyte maturation defects with metabolic abnormality rescuable by biotin replenishment

Clinical immunology (Orlando, Fla.), 2023-12, Vol.257, p.109855-109855, Article 109855

2023

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Novel roles for MLH3 deficiency and TLE6-like amplification in DNA mismatch repair-deficient gastrointestinal tumorigenesis and progression

PLoS genetics, 2008-06, Vol.4 (6), p.e1000092-e1000092

2008

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Two Cases of Interleukin-7–Deficient Generalized Verrucosis

Clinical infectious diseases, 2020-09, Vol.71 (6), p.1561-1563

2020

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Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation

The Journal of clinical investigation, 2010-12, Vol.120 (12), p.4353-4365

2010

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A de novo COL17A1 splicesite mutation causing a 7-bp deletion in a Taiwanese patient with junctional epidermolysis bullosa

EJD. European journal of dermatology, 2021-03, Vol.31 (2), p.267-269

2021

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Kinetics of cancer: a method to test hypotheses of genetic causation

BMC cancer, 2005-12, Vol.5 (1), p.163-163, Article 163

2005

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Novel SLC5A6 Mutations Lead to B Lymphocyte Maturation Defects with Metabolic Abnormality Rescuable by Biotin Replenishment

The Journal of immunology (1950), 2022-05, Vol.208 (1_Supplement), p.168-168.03

2022

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NOX2-deficient neutrophils facilitate joint inflammation in immune-mediated arthritis

The Journal of immunology (1950), 2021-05, Vol.206 (1_Supplement), p.60-60.10

2021

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Next-generation sequencing identifies rare variants associated with Noonan syndrome

Autosomal dominant epidermolysis bullosa simplex exacerbated by hyperkeratotic scabies

Novel compound heterozygous ITGB4 mutations underlie lethal junctional epidermolysis bullosa with pyloric atresia and aplasia cutis congenita

FGF primes angioblast formation by inducing ETV2 and LMO2 via FGFR1/BRAF/MEK/ERK

The dual PI3K/mTOR inhibitor NVP-BEZ235 induces tumor regression in a genetically engineered mouse model of PIK3CA wild-type colorectal cancer

Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients

NOX2-Deficient Neutrophils Facilitate Joint Inflammation Through Higher Pro-Inflammatory and Weakened Immune Checkpoint Activities

A novel pathogenic mutation on Interleukin-7 receptor leading to severe combined immunodeficiency identified with newborn screening and whole exome sequencing

Complexity of Transcriptional and Translational Interference of Laminin-332 Subunits in Junctional Epidermolysis Bullosa with LAMB3 Mutations

Plectin Missense Mutation p.Leu319Pro in the Pathogenesis of Autosomal Recessive Epidermolysis Bullosa Simplex

New Structural and Single Nucleotide Mutations in Type I and Type II Collagens in Taiwanese Children With Type I and Type II Collagenopathies

Whole-Exome Sequencing Identified Rare Genetic Variants Associated with Undervirilized Genitalia in Taiwanese Pediatric Patients

Rare Compound Heterozygous Frameshift Mutations in ALMS1 Gene Identified Through Exome Sequencing in a Taiwanese Patient With Alström Syndrome

Probiotics-Containing Yogurt Ingestion and H. pylori Eradication Can Restore Fecal Faecalibacterium prausnitzii Dysbiosis in H. pylori-Infected Children

Contributions by MutL homologues Mlh3 and Pms2 to DNA mismatch repair and tumor suppression in the mouse

Profibrotic Subsets of SPP1+ Macrophages and POSTN+ Fibroblasts Contribute to Fibrotic Scarring in Acne Keloidalis

The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer

Novel SLC5A6 mutations lead to B lymphocyte maturation defects with metabolic abnormality rescuable by biotin replenishment

Novel roles for MLH3 deficiency and TLE6-like amplification in DNA mismatch repair-deficient gastrointestinal tumorigenesis and progression

Two Cases of Interleukin-7–Deficient Generalized Verrucosis

Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation

A de novo COL17A1 splicesite mutation causing a 7-bp deletion in a Taiwanese patient with junctional epidermolysis bullosa

Kinetics of cancer: a method to test hypotheses of genetic causation

Novel SLC5A6 Mutations Lead to B Lymphocyte Maturation Defects with Metabolic Abnormality Rescuable by Biotin Replenishment

NOX2-deficient neutrophils facilitate joint inflammation in immune-mediated arthritis

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