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| 36650945 | Deep dental phenotyping and a novel FAM20A variant in patients with amelogenesis imperfecta type IG. | Oral Dis | 2024 |
| 37951597 | Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. | Brain | 2024 |
| 37994247 | Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8. | Mov Disord | 2024 |
| 34558757 | PTEN regulates proliferation and osteogenesis of dental pulp cells and adipogenesis of human adipose-derived stem cells. | Oral Dis | 2023 |
| 38086984 | Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorder. | Sci Rep | 2023 |
| 37957263 | Comparative genomics and genome-wide SNPs of endangered Eld's deer provide breeder selection for inbreeding avoidance. | Sci Rep | 2023 |
| 37794759 | Deep dental phenotyping and a novel FAM20A variant in patients with amelogenesis imperfecta type IG. | Oral Dis | 2023 |
| 37548766 | Dental characteristics of patients with four different types of skeletal dysplasias. | Clin Oral Investig | 2023 |
| 37944352 | Generation of human induced pluripotent stem cell lines derived from four patients with a pathogenic ALPK3 variant associated with adult-onset hypertrophic cardiomyopathy (HCM). | Stem Cell Res | 2023 |
| 37500953 | Functional consequences of C-terminal mutations in RUNX2. | Sci Rep | 2023 |
| 37822540 | Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators. | Front Public Health | 2023 |
| 37973547 | Can knowledgeable experts assess costs and outcomes as if they were ignorant? An experiment within precision medicine evaluation. | Int J Technol Assess Health Care | 2023 |
| 37923657 | Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies. | J Dermatol Sci | 2023 |
| 37320968 | Long-read Nanopore sequencing identified D4Z4 contractions in patients with facioscapulohumeral muscular dystrophy. | Neuromuscul Disord | 2023 |
| 37041139 | Novel ITGB6 variants cause hypoplastic-hypomineralized amelogenesis imperfecta and taurodontism: characterization of tooth phenotype and review of literature. | BDJ Open | 2023 |
| 37465423 | Using an experiment among clinical experts to determine the cost and clinical impact of rapid whole exome sequencing in acute pediatric settings. | Front Pediatr | 2023 |
| 36697461 | Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum. | Sci Rep | 2023 |
| 36849527 | Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants. | Sci Rep | 2023 |
| 36646731 | Pathogenic variant detection rate by whole exome sequencing in Thai patients with biopsy-proven focal segmental glomerulosclerosis. | Sci Rep | 2023 |
| 36935719 | Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International. | Front Public Health | 2023 |
| 36198807 | Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact. | Eur J Hum Genet | 2023 |
| 36354001 | Novel CNNM4 variant and clinical features of Jalili syndrome. | Clin Genet | 2023 |
| 36216080 | A germline STAT6 gain-of-function variant is associated with early-onset allergies. | J Allergy Clin Immunol | 2023 |
| 33318085 | Clinical and molecular characteristics of Thai patients with <i>ELANE-</i>related neutropaenia. | J Clin Pathol | 2022 |
| 35614192 | Comparative transcriptome profiles of human dental pulp stem cells from maxillary and mandibular teeth. | Sci Rep | 2022 |
| 35769989 | Genome-Wide Association Study for Chronic Hepatitis B Infection in the Thai Population. | Front Genet | 2022 |
| 35674542 | Cleidocranial dysplasia and novel RUNX2 variants: dental, craniofacial, and osseous manifestations. | J Appl Oral Sci | 2022 |
| 35703132 | Novel BMP1, CRTAP, and SERPINF1 variants causing autosomal recessive osteogenesis imperfecta. | Clin Genet | 2022 |
| 35363313 | Long-read Amplicon Sequencing of the CYP21A2 in 48 Thai Patients With Steroid 21-Hydroxylase Deficiency. | J Clin Endocrinol Metab | 2022 |
| 36457943 | Neurodevelopmental Disorder, Obesity, Pancytopenia, Diabetes Mellitus, Cirrhosis, and Renal Failure in <i>ACBD6</i>-Associated Syndrome: A Case Report. | Neurol Genet | 2022 |
| 36149814 | Novel Variants and Phenotypes in NEUROG3-Associated Syndrome. | J Clin Endocrinol Metab | 2022 |
| 35972748 | Pre-implantation genetic testing for Marfan syndrome using mini-sequencing. | J Obstet Gynaecol | 2022 |
| 36104364 | A LILRB1 variant with a decreased ability to phosphorylate SHP-1 leads to autoimmune diseases. | Sci Rep | 2022 |
| 35934244 | Genetic basis of sudden death after COVID-19 vaccination in Thailand. | Heart Rhythm | 2022 |
| 36327219 | Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative. | PLoS Genet | 2022 |
| 36191906 | TIGIT Monoallelic Nonsense Variant in Patient with Severe COVID-19 Infection, Thailand. | Emerg Infect Dis | 2022 |
| 36049609 | Severe coarctation of the aorta, developmental delay, and multiple dysmorphic features in a child with SMAD6 and SMARCA4 variants. | Eur J Med Genet | 2022 |
| 33486840 | Age-related dental phenotypes and tooth characteristics of FAM83H-associated hypocalcified amelogenesis imperfecta. | Oral Dis | 2022 |
| 35013560 | Host genetic factors of COVID-19 susceptibility and disease severity in a Thai population. | J Hum Genet | 2022 |
| 35279775 | Multifaceted roles of YEATS domain-containing proteins and novel links to neurological diseases. | Cell Mol Life Sci | 2022 |
| 35182440 | Patterns of molar agenesis associated with p.P20L and p.R77Q variants in PAX9. | Eur J Oral Sci | 2022 |
| 35176049 | Genotypic and phenotypic landscapes of 51 pharmacogenes derived from whole-genome sequencing in a Thai population. | PLoS One | 2022 |
| 34796988 | Phenotypic heterogeneity and genotypic spectrum of inborn errors of immunity identified through whole exome sequencing in a Thai patient cohort. | Pediatr Allergy Immunol | 2022 |
| 34621001 | Actionable secondary findings in the 73 ACMG-recommended genes in 1559 Thai exomes. | J Hum Genet | 2022 |
| 32925409 | Coinherited Hemoglobin H/Constant Spring Disease and Heterozygous Hemoglobin Tak Causing Severe Hemolytic Anemia in a Thai Boy. | J Pediatr Hematol Oncol | 2021 |
| 33743732 | MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders. | J Transl Med | 2021 |
| 33822359 | Rapid exome sequencing as the first-tier investigation for diagnosis of acutely and severely ill children and adults in Thailand. | Clin Genet | 2021 |
| 33737018 | Phenotypic features of dentinogenesis imperfecta associated with osteogenesis imperfecta and COL1A2 mutations. | Oral Surg Oral Med Oral Pathol Oral Radiol | 2021 |
| 33671041 | Prenatal Sonographic Features of CHARGE Syndrome. | Diagnostics (Basel) | 2021 |
| 33562887 | Compound Heterozygosity for a Novel Frameshift Variant Causing Fatal Infantile Liver Failure and Genotype-Phenotype Correlation of <i>POLG</i> c.3286C>T Variant. | Int J Neonatal Screen | 2021 |