C. Srichomthong

发表

Expanding the Oro-Dental and Mutational Spectra of Kabuki Syndrome and Expression of KMT2D and KDM6A in Human Tooth Germs

P. Sharpe, A. Ohazama, T. Porntaveetus, 2018, International journal of biological sciences.

Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases.

I. Borggraefe, F. Zimprich, C. Srichomthong, 2020, Gene.

PDGFRa mutations in humans with isolated cleft palate

C. Srichomthong, K. Suphapeetiporn, V. Shotelersuk, 2012, European Journal of Human Genetics.

Whole-Exome Sequencing Solved over 2-Decade Kidney Disease Enigma

C. Srichomthong, K. Suphapeetiporn, V. Shotelersuk, 2021, Nephron.

Genome of Varanus salvator macromaculatus (Asian Water Monitor) Reveals Adaptations in the Blood Coagulation and Innate Immune System

C. Srichomthong, V. Shotelersuk, Worapong Singchat, 2022, Frontiers in Ecology and Evolution.

The most 5′ truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report

C. Srichomthong, K. Suphapeetiporn, V. Shotelersuk, 2018, BMC medical genetics.

Significant association between IRF6 820G→A and non-syndromic cleft lip with or without cleft palate in the Thai population

C. Srichomthong, V. Shotelersuk, P. Siriwan, 2005, Journal of Medical Genetics.

Whole exome sequencing revealed mutations in FBXL4, UNC80, and ADK in Thai patients with severe intellectual disabilities.

C. Srichomthong, K. Suphapeetiporn, V. Shotelersuk, 2019, Gene.

Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1

M. Bahlo, C. Srichomthong, K. Suphapeetiporn, 2020, European journal of human genetics : EJHG.

Short stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: a case report

C. Srichomthong, K. Suphapeetiporn, V. Shotelersuk, 2016, BMC Medical Genetics.

Dental properties, ultrastructure, and pulp cells associated with a novel DSPP mutation.

P. Pavasant, T. Porntaveetus, C. Srichomthong, 2018, Oral diseases.

Germline and somatic DICER1 mutations in a pituitary blastoma causing infantile-onset Cushing's disease.

S. Kulawonganunchai, C. Srichomthong, K. Suphapeetiporn, 2014, The Journal of clinical endocrinology and metabolism.

A novel GJA1 mutation in oculodentodigital dysplasia with extensive loss of enamel.

A. Ohazama, T. Porntaveetus, C. Srichomthong, 2017, Oral diseases.

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

D. Eyre, I. Kennerknecht, A. Janecke, 2016, Nature Communications.

A LILRB1 variant with a decreased ability to phosphorylate SHP-1 leads to autoimmune diseases

T. Palaga, C. Srichomthong, K. Suphapeetiporn, 2022, Scientific Reports.

Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2

C. Srichomthong, K. Suphapeetiporn, V. Shotelersuk, 2012, American journal of medical genetics. Part A.

The Thai reference exome (T‐REx) variant database

V. Praphanphoj, D. Wichadakul, J. Piriyapongsa, 2021, Clinical genetics.

Compound Heterozygosity for a Novel Frameshift Variant Causing Fatal Infantile Liver Failure and Genotype–Phenotype Correlation of POLG c.3286C>T Variant

K. Rojnueangnit, T. Porntaveetus, T. Theerapanon, 2021, International journal of neonatal screening.

Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia

T. Porntaveetus, C. Srichomthong, K. Suphapeetiporn, 2017, American journal of medical genetics. Part A.

A Frameshift Mutation in PEN-2 Causes Familial Comedones Syndrome

C. Srichomthong, K. Suphapeetiporn, V. Shotelersuk, 2015, Dermatology.

Identification and Functional Analysis of Six DAX1 Mutations in Patients With X-Linked Adrenal Hypoplasia Congenita

C. Srichomthong, K. Suphapeetiporn, V. Shotelersuk, 2018, Journal of the Endocrine Society.

Identification of a mitochondrial 12S rRNA A1555G mutation causing aminoglycoside-induced deafness in a large Thai family

C. Srichomthong, K. Suphapeetiporn, V. Shotelersuk, 2017 .

Whole Genome and Exome Sequencing of Monozygotic Twins with Trisomy 21, Discordant for a Congenital Heart Defect and Epilepsy

S. Kulawonganunchai, S. Tongsima, C. Srichomthong, 2014, PloS one.

Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case report

C. Srichomthong, K. Suphapeetiporn, V. Shotelersuk, 2017, BMC Medical Genetics.

A novel termination codon mutation of the WAS gene in a Thai family with Wiskott-Aldrich syndrome.

P. Chatchatee, C. Srichomthong, V. Shotelersuk, 2003, International journal of molecular medicine.

Pathogenic variant detection rate by whole exome sequencing in Thai patients with biopsy-proven focal segmental glomerulosclerosis

C. Srichomthong, K. Suphapeetiporn, V. Shotelersuk, 2023, Scientific Reports.

Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3

M. Wentink, G. Driessen, P. Chatchatee, 2016, Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology.

Cole‐Carpenter syndrome in a patient from Thailand

T. Porntaveetus, T. Theerapanon, C. Srichomthong, 2018, American journal of medical genetics. Part A.

TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4.

Chaipat Chunharas, Monnat Pongpanich, Vorasuk Shotelersuk, 2019, Brain : a journal of neurology.

A novel mutation, 1234del(C), of the IRF6 in a Thai family with Van der Woude syndrome.

N. Niikawa, K. Yoshiura, C. Srichomthong, 2003, International journal of molecular medicine.

A novel p.E276K IDUA mutation decreasing α-L-iduronidase activity causes mucopolysaccharidosis type I

C. Srichomthong, K. Suphapeetiporn, V. Shotelersuk, 2011, Molecular vision.

Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I

C. Srichomthong, K. Suphapeetiporn, V. Shotelersuk, 2014, Journal of Medical Genetics.

Novel Mutations, Including a Large Deletion in the ARSB Gene, Causing Mucopolysaccharidosis Type VI.

C. Srichomthong, K. Suphapeetiporn, V. Shotelersuk, 2017, Genetic testing and molecular biomarkers.

Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand

C. Srichomthong, K. Suphapeetiporn, V. Shotelersuk, 2017, BMC Medical Genetics.

Four novel mutations of FAM20A in amelogenesis imperfecta type IG and review of literature for its genotype and phenotype spectra

D. Wichadakul, Sakkayaphab Piwluang, T. Porntaveetus, 2020, Molecular Genetics and Genomics.

Rapid exome sequencing as the first‐tier investigation for diagnosis of acutely and severely ill children and adults in Thailand

K. Rojnueangnit, C. Srichomthong, K. Suphapeetiporn, 2021, Clinical genetics.

ZRS 406A>G mutation in patients with tibial hypoplasia, polydactyly and triphalangeal first fingers

C. Srichomthong, K. Suphapeetiporn, V. Shotelersuk, 2014, Journal of Human Genetics.

Long-read Nanopore sequencing identified D4Z4 contractions in patients with facioscapulohumeral muscular dystrophy

C. Srichomthong, V. Shotelersuk, T. Kumutpongpanich, 2023, Neuromuscular Disorders.

A common and two novel GBA mutations in Thai patients with Gaucher disease

C. Srichomthong, K. Suphapeetiporn, V. Shotelersuk, 2013, Journal of Human Genetics.

Whole genome sequencing identifies a homozygous nonsense mutation in the JPH2 gene in Shih Tzu dogs with progressive retinal atrophy.

C. Srichomthong, L. Sariya, J. Ferreira, 2021, Animal genetics.

Prenatal exclusion of Crouzon syndrome by mutation analysis of FGFR2.

C. Srichomthong, V. Shotelersuk, V. Phupong, 2004, The Southeast Asian journal of tropical medicine and public health.

The patient ’ s de-PRENATAL EXCLUSION OF CROUZON SYNDROME BY MUTATION ANALYSIS OF FGFR 2

C. Srichomthong, V. Shotelersuk, V. Phupong, 2008 .

Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene

W. Gahl, M. Huizing, H. Dorward, 2013, Human Genetics.

A novel PCCB mutation in a Thai patient with propionic acidemia identified by exome sequencing

T. Porntaveetus, C. Srichomthong, K. Suphapeetiporn, 2015, Human Genome Variation.

SETBP1 mutations in two Thai patients with Schinzel–Giedion syndrome

C. Srichomthong, K. Suphapeetiporn, V. Shotelersuk, 2011, Clinical genetics.

Long-read Nanopore sequencing identified D4Z4 contractions in patients with facioscapulohumeral muscular dystrophy

C. Srichomthong, V. Shotelersuk, T. Kumutpongpanich, 2023, Neuromuscular Disorders.

FOXE1 mutations in Thai patients with oral clefts.

C. Srichomthong, K. Suphapeetiporn, V. Shotelersuk, 2013, Genetics research.