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 repo...

by Apiruk Sangsin, Chalurmpon Srichomthong, Monnat Pongpanich, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Published 2018

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

by Chulaluck Kuptanon, Chalurmpon Srichomthong, Apiruk Sangsin, Dool Kovitvanitcha, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Published 2018

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

by Apiruk Sangsin, Chulaluck Kuptanon, Chalurmpon Srichomthong, Monnat Pongpanich, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Published 2018

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

by Pongsathorn Chaiyasap, Chupong Ittiwut, Chalurmpon Srichomthong, Apiruk Sangsin, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Published 2018

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

by Apiruk Sangsin, Chulaluck Kuptanon, Chalurmpon Srichomthong, Monnat Pongpanich, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Published 2018

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

by Pongsathorn Chaiyasap, Chupong Ittiwut, Chalurmpon Srichomthong, Apiruk Sangsin, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Published 2018

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

by Rachaneekorn Tammachote, Siraprapa Tongkobpetch, Chalurmpon Srichomthong, Kampon Phipatthanananti, Suthipong Pungkanon, Duangrurdee Wattanasirichaigoon, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Published 2018

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

by Wuttichart Kamolvisit, Prasit Phowthongkum, Ponghatai Boonsimma, Chulaluck Kuptanon, Kitiwan Rojnueangnit, Duangrurdee Wattanasirichaigoon, Mongkol Chanvanichtrakool, Chutima Phuaksaman, Pattara Wiromrat, Chalurmpon Srichomthong, Chupong Ittiwut, Chureerat Phokaew, Rungnapa Ittiwut, Adjima Assawapitaksakul, Wanna Chetruengchai, Aayalida Buasong, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Published 2022

The Thai reference exome (T-REx) variant database

by Vorasuk Shotelersuk, Duangdao Wichadakul, Chumpol Ngamphiw, Chalurmpon Srichomthong, Chureerat Phokaew, Alisa Wilantho, Sujiraporn Pakchuen, Vorthunju Nakhonsri, Philip James Shaw, Rujipat Wasitthankasem, Jittima Piriyapongsa, Pongsakorn Wangkumhang, Adjima Assawapitaksakul, Wanna Chetruengchai, Keswadee Lapphra, Athiphat Khuninthong, Pattarapong Makarawate, Kanya Suphapeetiporn, Surakameth Mahasirimongkol, Nusara Satproedprai, Thantrira Porntaveetus, Prapaporn Pisitkun, Verayuth Praphanphoj, Piranit Kantaputra, Wichittra Tassaneeyakul, Sissades Tongsima
Published 2022