Identification of Gene Mutations in Primary Pediatric Cardiomyopathy by Whole Exome Sequencing

by Kitiwan Rojnueangnit, Boonchu Sirichongkolthong, Ratthapon Wongwandee, Thanitchet Khetkham, Saisuda Noojarern, Arthaporn Khongkraparn, Duangrurdee Wattanasirichaigoon
Published 2020

LACHT syndrome (Mardini–Nyhan association) with tracheal stenosis in a Thai newborn

by Kitiwan Rojnueangnit, Sudatip Kositamongkol, Wanida Paoin, Araya Satdhabudha, Onsuthi Pharadornuwat, Ratthapon Wongwandee, Weerin Thammachote, Natini Jinawath
Published 2020

Molecular analysis of the novel IDS allele in a thai family with mucopolysaccharidosis type II: The c.928C>T (p.Gln310*) transcript is sensitive to nonsense-mediated mRNA decay

by Lukana Ngiwsara, Kitiwan Rojnueangnit, Duangrurdee Wattanasirichaigoon, Thipwimol Tim-Aroon, Phannee Sawangareetrakul, Voraratt Champattanachai, James R. Ketudat-Cairns, Jisnuson Svasti
Published 2018

Novel SOX10 Mutations in Waardenburg Syndrome: Functional Characterization and Genotype-Phenotype Analysis

by Supranee Thongpradit, Natini Jinawath, Asif Javed, Laran T. Jensen, Issarapa Chunsuwan, Kitiwan Rojnueangnit, Thipwimol Tim-Aroon, Krisna Lertsukprasert, Meng Shin Shiao, Nongnuch Sirachainan, Duangrurdee Wattanasirichaigoon
Published 2021

Clinical delineation of 18q11-q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects

by Kitiwan Rojnueangnit, Chariyawan Charalsawadi, Weerin Thammachote, Ariya Pradabmuksiri, Thipwimol Tim-Aroon, Antonio Novelli, Sara Loddo, Silvana Briuglia, Cutrupi M. Concetta, Duangrurdee Wattanasirichaigoon, Natini Jinawath
Published 2020

Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand

by Lukana Ngiwsara, Duangrurdee Wattanasirichaigoon, Thipwimol Tim-Aroon, Kitiwan Rojnueangnit, Saisuda Noojaroen, Arthaporn Khongkraparn, Phannee Sawangareetrakul, James R. Ketudat-Cairns, Ratana Charoenwattanasatien, Voraratt Champattanachai, Chulaluck Kuptanon, Suthipong Pangkanon, Jisnuson Svasti
Published 2020

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