MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta von Lindert, Uschi, Cabral, Wayne A., Ausavarat, Surasawadee, Tongkobpetch, Siraprapa, Ludin, Katja, Barnes, Aileen M., Yeetong, Patra, Weis, Maryann, Krabichler, Birgit, Srichomthong, Chalurmpon, Makareeva, Elena N., Janecke, Andreas R., Leikin, Sergey, Röthlisberger, Benno, Rohrbach, Marianne, Kennerknecht, Ingo, Eyre, David R., Suphapeetiporn, Kanya, Giunta, Cecilia, Marini, Joan C., Shotelersuk, Vorasuk

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Dosage Optimization of Efavirenz Based on a Population Pharmacokinetic–Pharmacogenetic Model of HIV-infected Patients in Thailand von Chaivichacharn, Piyawat, Avihingsanon, Anchalee, Manosuthi, Weerawat, Ubolyam, Sasiwimol, Tongkobpetch, Siraprapa, Shotelersuk, Vorasuk, Punyawudho, Baralee

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Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants von Chokvithaya, Suphalak, Caengprasath, Natarin, Buasong, Aayalida, Jantasuwan, Supavadee, Santawong, Kanokwan, Leela-adisorn, Netchanok, Tongkobpetch, Siraprapa, Ittiwut, Chupong, Saengow, Vitchayaporn Emarach, Kamolvisit, Wuttichart, Boonsimma, Ponghatai, Bongsebandhu-phubhakdi, Saknan, Shotelersuk, Vorasuk

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A LILRB1 variant with a decreased ability to phosphorylate SHP-1 leads to autoimmune diseases von Sinthuwiwat, Thivaratana, Buranapraditkun, Supranee, Kamolvisit, Wuttichart, Tongkobpetch, Siraprapa, Chetruengchai, Wanna, Srichomthong, Chalurmpon, Assawapitaksakul, Adjima, Phokaew, Chureerat, Kueanjinda, Patipark, Palaga, Tanapat, Boonpiyathad, Tadech, Suphapeetiporn, Kanya, Hirankarn, Nattiya, Shotelersuk, Vorasuk

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Generation of two human iPSC lines (MDCUi001-A and MDCUi001-B) from dermal fibroblasts of a Thai patient with X-linked osteogenesis imperfecta using integration-free Sendai virus von Tongkobpetch, Siraprapa, Rungsiwiwut, Ruttachuk, Pruksananonda, Kamthorn, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

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Compound Heterozygous PGM3 Mutations in a Thai Patient with a Specific Antibody Deficiency Requiring Monthly IVIG Infusions von Ittiwut, Chupong, Manuyakorn, Wiparat, Tongkobpetch, Siraprapa, Benjaponpitak, Suwat, Fisher, Megan R., Milner, Joshua D., Lyons, Jonathan J., Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

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MSX1 mutations contribute to nonsyndromic cleft lip in a Thai population von Tongkobpetch, Siraprapa, Siriwan, Pichit, Shotelersuk, Vorasuk

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A patient with combined pituitary hormone deficiency and osteogenesis imperfecta associated with mutations in LHX4 and COL1A2 von Hemwong, Nalinee, Phokaew, Chureerat, Srichomthong, Chalurmpon, Tongkobpetch, Siraprapa, Srilanchakon, Khomsak, Supornsilchai, Vichit, Suphapeetiporn, Kanya, Porntaveetus, Thantrira, Shotelersuk, Vorasuk

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A common and two novel GBA mutations in Thai patients with Gaucher disease von Tammachote, Rachaneekorn, Tongkobpetch, Siraprapa, Srichomthong, Chalurmpon, Phipatthanananti, Kampon, Pungkanon, Suthipong, Wattanasirichaigoon, Duangrurdee, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

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A novel de novo COL1A1 mutation in a Thai boy with osteogenesis imperfecta born to consanguineous parents von Tongkobpetch, Siraprapa, Limpaphayom, Noppachart, Sangsin, Apiruk, Porntaveetus, Thantrira, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

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Novel CTSK mutation resulting in an entire exon 2 skipping in a Thai girl with pycnodysostosis von Utokpat, Pattarapa, Panmontha, Wipa, Tongkobpetch, Siraprapa, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

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Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2 von Tammachote, Rachaneekorn, Kingsuwannapong, Nelawat, Tongkobpetch, Siraprapa, Srichomthong, Chalurmpon, Yeetong, Patra, Kingwatanakul, Pornchai, Monico, Carla G., Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

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Carbamazepine and phenytoin induced Stevens‐Johnson syndrome is associated with HLA‐B1502 allele in Thai population von Locharernkul, Chaichon, Loplumlert, Jakrin, Limotai, Chusak, Korkij, Wiwat, Desudchit, Tayard, Tongkobpetch, Siraprapa, Kangwanshiratada, Oratai, Hirankarn, Nattiya, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

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Long-read Amplicon Sequencing of the CYP21A2 in 48 Thai Patients With Steroid 21-Hydroxylase Deficiency von Tantirukdham, Nithiphut, Sahakitrungruang, Taninee, Chaisiwamongkol, Ratikorn, Pongpanich, Monnat, Srichomthong, Chalurmpon, Assawapitaksakul, Adjima, Buasong, Aayalida, Tongkobpetch, Siraprapa, Yeetong, Patra, Shotelersuk, Vorasuk

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PTPRF is disrupted in a patient with syndromic amastia von Ausavarat, Surasawadee, Tongkobpetch, Siraprapa, Praphanphoj, Verayuth, Mahatumarat, Charan, Rojvachiranonda, Nond, Snabboon, Thiti, Markello, Thomas C, Gahl, William A, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

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Novel Variants and Phenotypes in NEUROG3-Associated Syndrome von Wejaphikul, Karn, Srilanchakon, Khomsak, Kamolvisit, Wuttichart, Jantasuwan, Supavadee, Santawong, Kanokwan, Tongkobpetch, Siraprapa, Theerapanon, Thanakorn, Damrongmanee, Alisara, Hongsawong, Nattaphorn, Ukarapol, Nuthapong, Dejkhamron, Prapai, Supornsilchai, Vichit, Porntaveetus, Thantrira, Shotelersuk, Vorasuk

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PDGFRa mutations in humans with isolated cleft palate von RATTANASOPHA, Sawitree, TONGKOBPETCH, Siraprapa, SRICHOMTHONG, Chalurmpon, SIRIWAN, Pichit, SUPHAPEETIPORN, Kanya, SHOTELERSUK, Vorasuk

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Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8 von Yeetong, Patra, Dembélé, Mohamed E., Pongpanich, Monnat, Cissé, Lassana, Srichomthong, Chalurmpon, Maiga, Alassane B., Dembélé, Kékouta, Assawapitaksakul, Adjima, Bamba, Salia, Yalcouyé, Abdoulaye, Diarra, Salimata, Mefoung, Samuel Ephrata, Rakwongkhachon, Supphakorn, Traoré, Oumou, Tongkobpetch, Siraprapa, Fischbeck, Kenneth H., Gahl, William A., Guinto, Cheick O., Shotelersuk, Vorasuk, Landouré, Guida

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Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I von Rattanasopha, Sawitree, Tongkobpetch, Siraprapa, Srichomthong, Chalurmpon, Kitidumrongsook, Pravit, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

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PTEN c.511C>T Nonsense Mutation in a BRRS Family Disrupts a Potential Exonic Splicing Enhancer and Causes Exon Skipping von Suphapeetiporn, Kanya, Kongkam, Pradermchai, Tantivatana, Jarturon, Sinthuwiwat, Thivaratana, Tongkobpetch, Siraprapa, Shotelersuk, Vorasuk

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