Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais by Wanna Chetruengchai, Prasit Phowthongkum, Vorasuk Shotelersuk

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Compound Heterozygosity for a Novel Frameshift Variant Causing Fatal Infantile Liver Failure and Genotype-Phenotype Correlation of <i>POLG</i> c.3286C>T Variant by Kanokwan Sriwattanapong, Kitiwan Rojnueangnit, Thanakorn Theerapanon, Chalurmpon Srichomthong, Thantrira Porntaveetus, Vorasuk Shotelersuk

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Novel ITGB6 variants cause hypoplastic-hypomineralized amelogenesis imperfecta and taurodontism: characterization of tooth phenotype and review of literature by Kanokwan Sriwattanapong, Thanakorn Theerapanon, Lawan Boonprakong, Anucharte Srijunbarl, Thantrira Porntaveetus, Vorasuk Shotelersuk

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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

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Cleidocranial dysplasia and novel RUNX2 variants: dental, craniofacial, and osseous manifestations by Sermporn THAWEESAPPHITHAK, Jirawat SAENGSIN, Wuttichart KAMOLVISIT, Thanakorn THEERAPANON, Thantrira PORNTAVEETUS, Vorasuk SHOTELERSUK

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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

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Nagashima-Type Palmoplantar Keratosis with Compound Heterozygous Mutations in SERPINB7 by Chankiat Songsantiphap, Jirat Suwanwatana, Chupong Ittiwut, Pravit Asawanonda, Pawinee Rerknimitr, Vorasuk Shotelersuk

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Using an experiment among clinical experts to determine the cost and clinical impact of rapid whole exome sequencing in acute pediatric settings by Nattiya Kapol, Wuttichart Kamolvisit, Wuttichart Kamolvisit, Lalida Kongkiattikul, Evan Huang-Ku, Namfon Sribundit, Surasit Lochid-Amnuay, Nathapol Samprasit, Thamonwan Dulsamphan, Parntip Juntama, Chotika Suwanpanich, Ponghathai Boonsimma, Vorasuk Shotelersuk, Vorasuk Shotelersuk, Yot Teerawattananon, Yot Teerawattananon

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Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International by Domenica Taruscio, Marco Salvatore, Aimè Lumaka, Aimè Lumaka, Claudio Carta, Laura L. Cellai, Gianluca Ferrari, Savino Sciascia, Stephen Groft, Yasemin Alanay, Maleeha Azam, Gareth Baynam, Helene Cederroth, Eva Maria Cutiongco-de la Paz, Vajira Harshadeva Weerabaddana Dissanayake, Roberto Giugliani, Claudia Gonzaga-Jauregui, Dineshani Hettiarachchi, Oleg Kvlividze, Guida Landoure, Prince Makay, Béla Melegh, Ugur Ozbek, Ratna Dua Puri, Vanessa Romero, Vinod Scaria, Saumya S. Jamuar, Saumya S. Jamuar, Vorasuk Shotelersuk, Dario Roccatello, William A. Gahl, Samuel A. Wiafe, Olaf Bodamer, Manuel Posada

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Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators by Savino Sciascia, Dario Roccatello, Marco Salvatore, Claudio Carta, Laura L. Cellai, Gianluca Ferrari, Aimè Lumaka, Aimè Lumaka, Stephen Groft, Yasemin Alanay, Maleeha Azam, Gareth Baynam, Helene Cederroth, Eva Maria Cutiongco-de la Paz, Vajira Harshadeva Weerabaddana Dissanayake, Roberto Giugliani, Claudia Gonzaga-Jauregui, Dineshani Hettiarachchi, Oleg Kvlividze, Guida Landoure, Prince Makay, Béla Melegh, Ugur Ozbek, Ratna Dua Puri, Vanessa I. Romero, Vinod Scaria, Saumya S. Jamuar, Saumya S. Jamuar, Vorasuk Shotelersuk, William A. Gahl, Samuel A. Wiafe, Olaf Bodamer, Manuel Posada, Domenica Taruscio

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Association between MTHFR polymorphisms and frontoethmoidal encephalomeningocele and cleft lip with or without cleft palate by Chupong Ittiwut

Other Authors: “…Vorasuk Shotelersuk…”
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