S. Chanprasert

发表

Adult liver disorders caused by inborn errors of metabolism: review and update.

F. Scaglia, S. Chanprasert, 2015, Molecular genetics and metabolism.

Mitochondrial Disorders Causing Cardioskeletal Myopathies in Childhood

W. Craigen, S. Chanprasert, 2017 .

Hemochromatosis risk genotype is not associated with colorectal cancer or age at its diagnosis

C. Ulrich, H. Brenner, J. Chang-Claude, 2020, HGG advances.

Genomic medicine implementation protocols in the PhenX Toolkit: tools for standardized data collection

Carol M Hamilton, Carol M. Hamilton, W. Chung, 2021, Genetics in Medicine.

A large number of cerebral microbleeds in CADASIL patients presenting with recurrent seizures: a case report

D. Songsaeng, S. Chanprasert, Chumpol Anamnart, 2019, BMC Neurology.

Pathophysiology of vomiting-induced hypokalemia and diagnostic approach.

W. Cheungpasitporn, P. Suksaranjit, S. Chanprasert, 2012, The American journal of emergency medicine.

Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation.

Lisa T. Emrick, W. Craigen, F. Scaglia, 2016, Molecular genetics and metabolism.

Coexistent Membranous Nephropathy with Doubly ANCA-Associated Crescentic Glomerulonephritis: A Case Report and Review of Literature

W. Cheungpasitporn, S. Chanprasert, A. Eldred, 2011 .

Pythiosis with renal involvement- Rare but Fatal Disease: A Systematic Review

C. Thongprayoon, W. Cheungpasitporn, N. Srivali, 2015 .

Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene.

B. Wong, J. Mendell, W. Craigen, 2013, Molecular genetics and metabolism.

F. Scaglia, L. Wong, Jing Wang, 2012 .

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Orphanet Journal of Rare Diseases.

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Genetics in Medicine.

WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects

M. Poot, A. Federico, D. Schindler, 2017, Human mutation.

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Anesthetics Have Different Effects on the Electrocorticographic Spectra of Wild-type and Mitochondrial Mutant Mice

C. W. Carspecken, P. Morgan, M. Sedensky, 2018, Anesthesiology.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, npj Genomic Medicine.

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A

M. Bamshad, P. Byers, A. Stergachis, 2023, bioRxiv.

Novel Missense Variants in ADAT3 as a Cause of Syndromic Intellectual Disability

Yaping Yang, L. Potocki, D. Scott, 2019, Journal of Pediatric Genetics.

Mitochondria: role of citrulline and arginine supplementation in MELAS syndrome.

W. Craigen, F. Scaglia, A. El-Hattab, 2014, The international journal of biochemistry & cell biology.

Glycogen storage disease type IV: dilated cardiomyopathy as the isolated initial presentation in an adult patient

Kelly D. Smith, J. Maleszewski, S. Chanprasert, 2019, BMJ Case Reports.

Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Cognitive characteristics of mitochondrial diseases in children

M. Warner, R. Saneto, H. Shurtleff, 2018, Epilepsy & Behavior.

Glucose metabolism derangements in adults with the MELAS m.3243A>G mutation.

W. Craigen, F. Scaglia, A. El-Hattab, 2014, Mitochondrion.

Thai patients who fulfilled NCCN criteria for breast/ovarian cancer genetic assessment demonstrated high prevalence of germline mutations in cancer susceptibility genes: implication to Asian population testing

C. Limwongse, W. Thongnoppakhun, S. Chanprasert, 2021, Breast Cancer Research and Treatment.

High Prevalence of Germline Mutations in Cancer Susceptibility Genes in Thai Patients with Clinical Spectrum of Hereditary Breast-Ovarian Cancer Syndrome

C. Limwongse, W. Thongnoppakhun, S. Chanprasert, 2020 .

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

William E. Byrd, David R. Murdock, Marni J. Falk, 2020, Brain : a journal of neurology.

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, American journal of human genetics.

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.

William E. Byrd, Marni J. Falk, Laurel A. Cobban, 2023, The Journal of pediatrics.

Participation in a national diagnostic research study: assessing the patient experience

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, Orphanet Journal of Rare Diseases.

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, Orphanet Journal of Rare Diseases.

Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome

M. Bamshad, P. Byers, A. Stergachis, 2023, Annals of clinical and translational neurology.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

A large number of cerebral microbleeds in CADASIL patient presented with recurrent seizures: A case report

D. Songsaeng, S. Chanprasert, Chumpol Anamnart, 2019 .

VarSight: prioritizing clinically reported variants with binary classification algorithms

Gabor T. Marth, David R. Murdock, Alexander C. Moss, 2019, BMC Bioinformatics.

Beckwith–Wiedemann Syndrome

W. Cheungpasitporn, J. Chenbhanich, S. Chanprasert, 2020, Handbook of Tumor Syndromes.

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

Maeson S. Latsko, P. Jayakar, K. Štěrbová, 2023, Research square.

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

Gabor T. Marth, Laurel A. Cobban, Lisa T. Emrick, 2024, American journal of human genetics.