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Annals of Translational Medicine is endorsed by the Bonnie J. Addario Lung Cancer Foundation (ALCF), the Ming-Yi Medical Charity Foundation of Guangdong Province, the international Inspire2Live Patient Advocates organization, and the Hellenic Cooperative Oncology Group.

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the Brazilian Society of Thoracic Surgery(SBCT)

the Brazilian Society of Thoracic Surgery(SBCT) the Bonnie J. Addario Lung Cancer Foundation (ALCF)

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Annals of Translational Medicine is sponsored by the Affiliated Nanjing Jiangning Hospital of Nanjing Medical University.

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Newborn Screening, Inborn Errors of Metabolism

AB001. Methylmalonic and propionic acidemias: comparative outcomes between liver transplantation versus non-liver transplantation groups
Tzu-Hung Chu, Dau-Ming Niu

Clinical Genetics

AB002. Human genetics at the National Research Centre in Egypt: history, achievements and challenges
Mona El Gammal, Mona Aglan, Samia Temtamy

Newborn Screening, Inborn Errors of Metabolism

AB003. Prevalence of copy number and structural variants across Mendelian disorders
Swaroop Aradhya, Rebecca Truty

Genetic Counseling and Education

AB004. Genetic diagnosis and experiences in management of disorders of sex development in Indonesia
Sultana MH Faradz, Nurin Aisyiyah Listyasari, Achmad Zulfa Juniarto

Prenatal Genetics, Reproductive Genetics

AB006. Chromosome analysis in placenta with fetal anomaly
Akane Kondo, Shizue Nambara, Tomomi Iba, Chika Fukano, Daichi Nakaoku, Kazumi Takahashi, Mikio Yamasaki, Mikio Morine, Kazuhisa Maeda

Population Genetics, Genetic Epidemiology, Statistics, Bioinformatics

AB007. Search of signals for cold adaptation in native populations of Siberia by whole exome sequencing
Vadim Stepanov, Kseniya Vagaitseva, Anna Bocharova, Vladimir Kharkov

Therapeutic Methods, Treatment of Genetic Diseases

AB008. Bifunctional antibody as a surrogate molecular linker for the treatment of alpha-dystroglycan related muscular dystrophies
Seng H. Cheng, Yunxiang Zhu

Newborn Screening, Inborn Errors of Metabolism

AB009. Biochemical and molecular research on lysosomal storage disorders in Thai patients
Lukana Ngiwsara, Jisnuson Svasti, James Cairns, Voraratt Champattanachai, Nithiwat Vatanavicharn, Pornswan Wasant, Chulaluck Kuptanon, Duangrurdee Wattanasirichaigoon

Clinical Genetics

AB010. Aberrant behavior profile of fragile X syndrome in medically underserved population
Tri Winarni, Tanjung Sumekar, Widodo Sardjana, Hardian Hardian, Sultana MH Faradz

Molecular Genetics, Genomics, Mechanisms of Diseases

AB011. Genetic basis of intellectual disability in consanguineous families from Jordan
Tawfiq Froukh, Rami Abou Jamra, Erin Heinzen, David Goldstein, Olaf Riess, Rebecca Buchert

Complex Genetic Disorders, Genetic Susceptibility to Infections

AB012. Impact of down-regulated SK3 expressions in Hirschsprung’s disease patients following pull-through surgery
. Gunadi, Mukhamad Sunardi, Alvin Kalim, Andi Dwihantoro

Prenatal Genetics, Reproductive Genetics

AB013. Distribution of azoospermia factor microdeletions in Indonesian infertile males
Achmad Zulfa Juniarto, Nurin Aisyiyah Listyasari, Sultana MH Faradz

Newborn Screening, Inborn Errors of Metabolism

AB014. Beta-ketothiolase deficiency: phenotype, genotype and outcome of 48 Vietnamese patients
Khanh Ngoc Nguyen, Hoan Thi Nguyen, Ngoc Thi Bic Can, Mai Thi Thanh Do, Thao Phuong Bui, Toshiyuki Fukao, Dung Chi Vu

Birth Defects, Dysmorphology, Skeletal Dysplasia, Craniofacial Anomalies

AB015. Study on pericentric inversion of chromosome 9 and congenital abnormalities in children
Lieu Thi Le, Nhung Thi Hong Dinh, Moc Thi Thanh Hoang, Nga Thi Tran, Lan Thuy An, Quang Dinh Vu, Ngoc Diem Ngo, Hai Thanh Le

Clinical Genetics

AB016. A new model of provision of clinical genetics service
Stephen T. S. Lam

Newborn Screening, Inborn Errors of Metabolism

AB017. Gene panel study for target metabolic diseases of newborn screening in Japan
Hideo Sasai, Ryoji Fujiki, Osamu Ohara, Yoko Nakajima, Tetsuya Ito, Masahisa Kobayashi, Go Tajima, Osamu Sakamoto, Shiro Matsumoto, Kimitoshi Nakamura, Takashi Hamazaki, Yuki Hasegawa, Hironori Kobayashi, Toshiyuki Fukao

Clinical Genetics

AB018. Hospitalization of adults with Down syndrome: lesson from a 10-year experience from a community hospital
Jirat Chenbhanich, Thomas Treadwell

Clinical Genetics

AB019. Clinical chromosomal microarray analysis in Singapore
Breana Cham, Angeline Lai

Birth Defects, Dysmorphology, Skeletal Dysplasia, Craniofacial Anomalies

AB020. Chromosome rearrangement in patients with 46,XY disorders of sex development
Dung Chi Vu, Khanh Ngoc Nguyen, Ngoc Bich Can, Thao Phuong Bui, Maki Fukami

Clinical Genetics

AB021. An observational study to identify keratin 5 and 14 mutations in patients with epidermolysis bullosa simplex in MacKay Memorial Hospital, Taipei, Taiwan
You-Hsin Huang, Shuan-Pei Lin, Yu-Hung Wu

Genetic Counseling and Education

AB022. External quality assessment of clinical genetics: from pilot assessment to full external quality assurance scheme
Rosalind Hastings, Conny van Ravenswaaij-Arts, Christi van Asperen, Borut Peterlin, Livia Garavelli

Therapeutic Methods, Treatment of Genetic Diseases

AB023. Evaluation the outcome of β-thalassemia intermedia patients on hydroxyurea combined with erythropoietin at National Children’s Hospital
Huong Nguyen, Ha Nguyen

Clinical Genetics

AB024. Etiology of recognizable or unclassified overgrowth syndrome
Chong Kun, Yoo-Mi Kim

Molecular Genetics, Genomics, Mechanisms of Diseases

AB025. PDGFRA gene polymorphism and corneal curvature in Indonesian people with astigmatism
Mitayani Purwoko, Indri Ramayanti, Hasmeinah Roesad

Complex Genetic Disorders, Genetic Susceptibility to Infections

AB026. Genetic variation in CYP2C8, CYP2C9 and CYP2C19 and the risk of coronary artery disease
Alexey Polonikov, Svetlana Sirotina, Marina Bykanova, Anna Bocharova, Vadim Stepanov, Maria Solodilova

Complex Genetic Disorders, Genetic Susceptibility to Infections

AB027. Promoter polymorphism rs9332978 in the CYP4A11 gene is a novel susceptibility marker for coronary heart disease
Maria Solodilova, Irina Ponomarenko, Marina Bykanova, Kseniya Vagaytseva, Vadim Stepanov, Alexey Polonikov

Newborn Screening, Inborn Errors of Metabolism

AB028. Very early treatment for infantile-onset Pompe disease contributes to better outcomes: 10-year experience in one institute
Chia-Feng Yang, Tzu-Hung Chu, Ling-Yi Huang, Hsuan-Chieh Liao, Wen-Jue Soong, Dau-Ming Niu

Clinical Genetics

AB029. Rare condition of hepatic Gaucheroma in a type I Gaucher patient with enzyme replacement therapy
Szu Yin Tseng, Chia Feng Yang, Chu Tzu Hung, Chuan-Chi Chiang, Hui-Chen Ho, Dau-Ming Niu

Birth Defects, Dysmorphology, Skeletal Dysplasia, Craniofacial Anomalies

AB030. Study of bone turnover markers and treatment monitoring in osteogenesis imperfecta
Amr Gouda, Samia Temtamy, Ola Ali, Walaa Nazim, Mona Aglan, Ghada Otaify

Clinical Genetics

AB031. Disorders of sex development: a clinical profile from Palembang, Indonesia
Ziske Maritska, Siti Rokoyah, Rezkylia Sakti, Nyayu Fauziah Zen, Lusia Hayati, Aditiawati Aditiawati

Prenatal Genetics, Reproductive Genetics

AB032. Cytokines gene polymorphism in pregnant women at a risk of preeclampsia
Madhavi Puppala, Lakshmi Kalpana Veerathu, Anuradha Argi, Sudhakar Godi, Sunil Kumar Polipalli

Cancer Genetics

AB033. The role in cancer-related DNA damage repair of RNF43
Tassanee Lerksuthirat, Rakkreat Wikiniyadhanee, Wasana Stitchantrakul, Sermsiri Chitphuk, Donniphat Dejsuphong

Population Genetics, Genetic Epidemiology, Statistics, Bioinformatics

AB034. Carrier frequency of inherited genetic disorders in Thai population: implication for designing expanded carrier screening panel
Sommon Klumsathian, Woramon Lorlipiwong, Nareenart Iemwimangsa, Insee Sensorn, Bhakbhoom Panthan, Takol Chareonsirisuthigul, Objoon Trachoo, Wasun Chantratita

Ethics, Legal and Social Issues

AB035. Patients and informal caregivers handling health conditions
Sofia Oliveira, Vania Francisco, Pedro Oliveira

Clinical Genetics

AB036. Cardiac features in Taiwanese patients with mucopolysaccharidosis IVA
Hsiang-Yu Lin, Shuan-Pei Lin, Ming-Ren Chen, Chih-Kuang Chuang, Shan-Miao Lin, Chung-Lieh Hung, Dau-Ming Niu

Birth Defects, Dysmorphology, Skeletal Dysplasia, Craniofacial Anomalies

AB037. The first case of Beare-Stevenson cutis gyrata syndrome with an FGFR2 gene mutation (Tyr375Cys) in Thailand
Khunton Wichajarn, Pakaphan Kiatchoosakul, Ratana Komwilaisak

Newborn Screening, Inborn Errors of Metabolism

AB038. The biochemical and genetic analyses of biotinidase deficiency in the population of Taiwan
Tzu-Min Huang, Li-Chu Chen, Li-Shin Chen, Shi-Ping Chou, Shis-Chuan Tseng, Ni-Chung Lee

Clinical Genetics

AB039. Abnormal thyroid function in Prader-Willi syndrome
Kornkamol Holsakul, Khunton Wichajarn

Clinical Genetics

AB040. Preliminary study of chimerism detection in allogeneic hematopoietic stem cell transplantation using massively parallel sequencing
Tikumphorn Sathirapatya, Poonyapat Sukawutthiya, Kornkiat Vongpaisarnsin

Newborn Screening, Inborn Errors of Metabolism

AB041. Establishment of age specific reference intervals of neonatal thyroid stimulating hormone in Pakistani population: experience at a tertiary care center
Sibtain Ahmed, Lena Jafri, Aysha Habib Khan, Imran Siddiqui, Hafsa Majid, Farooq Ghani

Prenatal Genetics, Reproductive Genetics

AB042. Prenatal genetic counseling in the Philippine setting: a case series
Barbra Charina Cavan, Antoinette Mendoza, Girlie Veloso

Therapeutic Methods, Treatment of Genetic Diseases

AB043. Correction of the GLA IVS4+919 G>A mutation with CRISPR/Cas9 deletion strategy in fibroblasts of Fabry disease
Sheng-Kai Chang, Yung-Hsiu Lu, Yun-Ru Chen, Yu-Ping Hsieh, Wei-Jou Lin, Ting-Rong Hsu, Dau-Ming Niu

Prenatal Genetics, Reproductive Genetics

AB044. Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Mai Thi Phuong Nguyen, Mai Nguyen

Birth Defects, Dysmorphology, Skeletal Dysplasia, Craniofacial Anomalies

AB045. Studying the probabilities of Down syndrome recognition in Thai children using de-identified computer-aided facial features analysis
Nattariya Vorravanpreecha, Tanayoot Lertboonnum, Rungrote Rodjanadit, Pak Sriplienchan, Kitiwan Rojnueangnit

Birth Defects, Dysmorphology, Skeletal Dysplasia, Craniofacial Anomalies

AB046. Russell-Silver syndrome: a case report and brief review of the literature
Ana Fernandez-Ibanez, Rodrigo Ugalde-Herra, Carolina Carneiro-Martinez, Lara Verdejo-Rodriguez, Elena Anon-Alvarez

Clinical Genetics

AB047. Clinical ocular manifestations of Taiwanese patients with mucopolysaccharidoses VI (Maroteaux-Lamy syndrome): a single institution experience
Hsu-Ying Lin, You-Hsin Huang, Shuan-Pei Lin, Shao-Yu Lei

Newborn Screening, Inborn Errors of Metabolism

AB048. Maternal and neonatal factors associated with transient neonatal hyperthyrotropinemia: Indian context
Ritika Garg, Seema Kapoor

Newborn Screening, Inborn Errors of Metabolism

AB049. Diagnosis and treatment of phenylketonuria in Taiwan- experience from a national newborn screening confirmatory center
Chih-Ya Cheng, Ting-Rong Hsu, Chia-Feng Yang, Tzu-Hung Chu, Yung-Hsiu Lu, Sheng-Kai Chang, Dau-Ming Niu

Population Genetics, Genetic Epidemiology, Statistics, Bioinformatics

AB050. Later onset Fabry disease, cardiac damage progress in silence-experience with a highly prevalent mutation
Dau-Ming Niu, Ting-Rong Hsu, Sheng-Che Hung, Fu-Pang Chang, Wen-Chung Yu, Shih-Hsien Sung, Chia-Lin Hsu, Robert J. Desnick

Molecular Genetics, Genomics, Mechanisms of Diseases

AB051. Chromosomal microarray analysis in a large cohort of Thai patients with autism spectrum disorder
Juthamas Worachotekamjorn, Tippawan Hansakunachai, Kitiwan Rojnueangnit, Rawiwan Roongpraiwan, Nichara Ruangdaraganon, Duangrurdee Wattanasirichaigoon, Natini Jinawath, Pornprot Limprasert

Clinical Genetics

AB052. Application of facial dysmorphology analysis technology (Face2gene) in Korean rare genetic diseases
Dae-Hyun Jang

Complex Genetic Disorders, Genetic Susceptibility to Infections

AB053. NRG1 rare variant effects in Hirschsprung disease patients
. Gunadi, Nova Budi, Kristy Iskandar, Indra Adrianto

Newborn Screening, Inborn Errors of Metabolism

AB054. Experiences during newborn screening for glutaric aciduria type 1: diagnosis, treatment, genotype, phenotype and outcomes
Shih-Hong Khoo, Fang-Chih Tsai, An-Guor Wang, Yung-Hsiu Lu, Tzu-Hung Chu, Chia-Feng Yang, Ting-Rong Hsu, Chih-Jou Lai, Dau-Ming Niu

Clinical Genetics

AB055. HADHB mutations in a child with suspected metabolic myopathy
Jin Sook Lee, Jong-Hee Chae

Newborn Screening, Inborn Errors of Metabolism

AB056. Biochemical and molecular investigation of patients with methylmalonic acidemia in Thailand
Phannee Sawangareetrakul, Voraratt Champattanachai, James R. Ketudat Cairns

Newborn Screening, Inborn Errors of Metabolism

AB057. Inborn error of metabolism screening: timeliness and clinical service outcomes in Singapore
James Lim, Sherry Poh, Ee Shien Tan

Clinical Genetics

AB058. Prader-Willi syndrome: clinical and genetic features
Lan An Thuy

Newborn Screening, Inborn Errors of Metabolism

AB059. Clinical, biochemical, and molecular features of Thai patients with multiple acyl-CoA dehydrogenase deficiency
Nithiwat Vatanavicharn, Somporn Liammongkolkul, Boonchai Boonyawat, Achara Sathienkijkanchai, Pornswan Wasant, Seiji Yamaguchi

Clinical Genetics

AB060. A family with three children of rare intellectual disability syndrome
Tiar Pratamawati, Nydia Sihombing, Donny Nauphar, Sultana MH Faradz

Clinical Genetics

AB061. Prevalence of 22q11.2 deletion syndrome in patients with congenital heart diseases in North-eastern Thailand
Panuwat Srichaisawat, Khunton Wichajarn, Arnkisa Chaikitpinyo, Manat Panamonta, Jureeporn Kampan

Newborn Screening, Inborn Errors of Metabolism

AB062. DNA damage is associated with infantile-pediatric cases of mitochondrial disorders: a pilot study from North India
Somesh Kumar, Arun Kumar, Mohammed Faruq, Seema Kapoor

Therapeutic Methods, Treatment of Genetic Diseases

AB063. Development of a fusion protein combined alpha-galactosidase A and insulin-like growth factor 2 for treatment of Fabry disease
Yun-Ru Chen

Cancer Genetics

AB064. TRIM29: a novel gene involved in DNA repair mechanisms
Rakkreat Wikiniyadhanee, Tassanee Lerksuthirat, Wasana Stitchantrakul, Sermsiri Chitphuk, Donniphat Dejsuphong

Genetic Counselling and Education

AB065. Genetic testing and counseling in family with late onset autosomal dominant spinocerebellar ataxia
Nurin Aisyiyah Listyasari, Nydia Rena Benita Sihombing, Tri Indah Winarni, Maria Belladona, Sultana MH Faradz

Molecular Genetics, Genomics, Mechanisms of Diseases

AB066. The association between GATA1 mutations in Down syndrome newborns and transient abnormal myelopoiesis
Kanokporn Chukua, Chayanont Netsawang, Kittipoom Padungthai, Thanitchet Khetkham, Pacharapan Surapolchai, Kitiwan Rojnueangnit

Newborn Screening, Inborn Errors of Metabolism

AB067. X-linked adrenoleukodystrophy: Phenotype and genotype in Vietnamese patients
Khanh Ngoc Nguyen, Ha Thu Nguyen, Ngoc Thi Bich Can, Thao Phuong Bui, Shimozawa Nobuyuki, Huynh Anh Vu, Mai Thi Thanh Do, Dung Chi Vu

Molecular Genetics, Genomics, Mechanisms of Diseases

AB068. Characteristic of ATP7B gene mutation in Vietnamese Wilson’s disease patients and presymptomatic diagnosis for their siblings
Huong M.T. Nguyen, Hoa A. P. Nguyen, Mai P. T. Nguyen, Chi V. Phan, Van T. Ta, Ngoc D. Ngo

Population Genetics, Genetic Epidemiology, Statistics, Bioinformatics

AB069. Proficiency of data interpretation: identification of signaling single nucleotides polymorphism for coronary artery disease
Asma Cheema, Samantha Rosenthal, M. Ilyas Kamboh

Complex Genetic Disorders, Genetic Susceptibility to Infections

AB070. Association of genome-wide significant single-nucleotide polymorphisms with coronary artery disease in Pakistani population: a case-control study
Asma Cheema, Dilek Pirim, Xinxing Wang, F. Yesim Demirci, M. Ilyas Kamboh

Complex Genetic Disorders, Genetic Susceptibility to Infections

AB071. Semaphorin 3D impact in Indonesian Hirschsprung patients
Kristy Iskandar, Mukhamad Sunardi, . Gunadi

Complex Genetic Disorders, Genetic Susceptibility to Infections

AB072. Double aneuploidy of Down-Turner syndrome and Down-Klinefelter syndrome: case report and review
Moc Thi Thanh Hoang, Nhung Thi Hong Dinh, Nga Thi Tran, Lan Thuy An, Quang Dinh Vu, Huy Xuan Nguyen, Ngoc Diem Ngo, Hai Thanh Le

Newborn Screening, Inborn Errors of Metabolism

AB073. Classic infantile-onset Pompe disease: phenotypes and outcomes of 5 Vietnamese patients receiving enzyme replacement therapy
Khanh Ngoc Nguyen, Mai Thi Thanh Do, Ngoc Thi Bich Can, Wuh-Liang Hwu, Dung Chi Vu

Molecular Genetics, Genomics, Mechanisms of Diseases

AB074. Genetic variation in CYP2U1, CYP4A11 and CYP4F2 involved in the biosynthesis of hydroxyeicosatetraenoic acids and susceptibility to hypertension and atherosclerosis of various locations
Alexey Polonikov, Svetlana Sirotina, Irina Ponomarenko, Yaroslav Shvetsov, Marina Bykanova, Anna Bocharova, Kseniya Vagaytseva, Vadim Stepanov, Maria Solodilova

Molecular Genetics, Genomics, Mechanisms of Diseases

AB075. Genetic variation in soluble epoxide hydrolase gene and the risk of coronary heart disease in Russians
Maria Solodilova, Irina Ponomarenko, Svetlana Sirotina, Alexander Kharchenko, Marina Bykanova, Anna Bocharova, Kseniya Vagaytseva, Vadim Stepanov, Alexey Polonikov

Newborn Screening, Inborn Errors of Metabolism

AB076. Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis
Hideo Sasai, Yuka Aoyama, Hiroki Otsuka, Elsayed Abdelkreem, Yasuhiro Naiki, Mitsuru Kubota, Yuji Sekine, Masatsune Itoh, Mina Nakama, Hidenori Ohnishi, Ryoji Fujiki, Osamu Ohara, Toshiyuki Fukao

Newborn Screening, Inborn Errors of MetabolismNSLEM

AB077. Identification of lysosomal and extralysosomal globotriaosylceramide (Gb3) accumulation in endomyocardial biopsies before the occurrence of typical pathological changes of Fabry disease
Dau-Ming Niu, Ming-Jia Hsu, Fu-Pang Chang, Yung-Hsiu Lu, Sheng-Che Hung, Yu-Chen Wang, An-Hang Yang, Chia-Lin Hsu

Molecular Genetics, Genomics, Mechanisms of Diseases

AB078. Application of array comparative genomic hybridization in clinical diagnostics of intellectual disability/developmental delay in children
Sunil Polipalli, Prashant Verma, Ankur Jindal, Seema Kapoor

Clinical Genetics

AB079. Use of saliva and salivary DNA for comprehensive genotyping based on RealFast and StripAssays
Christian Oberkanins, Anne Berndt, Barbara Hauser, Helene Puehringer

Newborn Screening, Inborn Errors of Metabolism

AB080. MATI/III deficiency with demyelination of central tegmental tract during neonatal period
Shiro Matsumoto, Jun Kido, Rieko Sakamoto, Kimitoshi Nakamura, Hiroshi Mitsubuchi, Fumio Endo

Clinical Genetics

AB081. Variable major phenotypes in familial Marfan syndrome in Indonesia: a case report
Nani Maharani, Amallia N. Setyawati, Sodiqur Rifqi, Muhammad A. Sungkar, Gerard Pals, Sultana MH Faradz

Clinical Genetics

AB082. Glycogen storage disease IXa in a Filipino patient
Sylvia Estrada

Genetic Counselling and Education

AB083. Social media with cartoon characters as a powerful tool for expanding medical education and raising awareness of rare genetic diseases
Thipwimol Tim-Aroon, Suphatcharee Leklab, Marin Satawiriya, Sirima Ketsuwan, Duangrurdee Wattanasirichaigoon

Molecular Genetics, Genomics, Mechanisms of Diseases

AB084. The circulating serotypes of dengue in Sabah, Malaysian Borne
Nadia Iryani Najri, Zulina Mazlan, Joel Judson Jaimin, Rashidah Mohammad, Tajul Ariffin Awang Mohd, Ahneez Abdul Hameed, Vijay Kumar, Mohammad Zahirul Hoque

Clinical Genetics

AB085. Diagnosis of Prader-Willi syndrome using computer-aided facial dysmorphism analysis in Thai patients
Thipwimol Tim-Aroon, Nantiya Mongkollarp, Waraphorn Khunin, Duangrurdee Wattanasirichaigoon

Clinical Genetics

AB086. HLA-B*1502 and HLA-B*5801 genotyping for the prevention of severe cutaneous adverse drug reactions in a Children’s Hospital
Leng Kee Ching, Wendy Low, Yuen Ming Tan

Complex Genetic Disorders, Genetic Susceptibility to Infections

AB087. Synergistic genetic effects of RET and NRG1 susceptibility variants in Hirschsprung disease
Kristy Iskandar, Akhmad Makhmudi, . Gunadi

Molecular Genetics, Genomics, Mechanisms of Diseases

AB088. Prevalence of alpha thalassemia mutations in Filipino patients
Catherine Lynn Tipton Silao, Terence Diane F. Fabella, Maria Liza T. Naranjo, Carmencita D. Padilla, Ernesto D. J. Yuson

Molecular Genetics, Genomics, Mechanisms of Diseases

AB089. Prevalence of the most common β-globin gene mutations in Filipino β-thalassemia patients
Catherine Lynn T. Silao, Terence Diane F. Fabella, Maria Liza T. Naranjo, Carmencita D. Padilla, Ernesto D. J. Yuson

Complex Genetic Disorders, Genetic Susceptibility to Infections

AB090. Preliminary results of array CGH test in Vietnamese children with autism spectrum disorder
Huy Duong Do, Thi Phuong Hoa Bui, Thi Thanh Ha Ly, Thi Dieu Linh Pham, Trung Kien Tran, Thi Thanh Huong Le, Sy Vinh Le, Thanh Liem Nguyen

Clinical Genetics

AB091. Comparison of two haemoglobin electrophoresis platforms for the detection of haemoglobinopathies
Chui Sheun Yoon, Yuen Ming Tan, Hai Yang Law

Newborn Screening, Inborn Errors of Metabolism

AB092. A novel variant c.1506G>C at exon 9 of iduronate 2-sulfatase gene in mucopolysaccharidosis type II Indonesian child
Yulia Ariani, Rizky Priambodo, Cut Nurul Hafifah, Damayanti Rusli Sjarif

Clinical Genetics

AB093. Report of a SMARCA4 variant identified in a patient with Coffin-Siris syndrome
Mun Fai Loke, Saumya Shekhar Jamuar, Eileen Chew Ping Lim, Ene Choo Tan

Molecular Genetics, Genomics, Mechanisms of Diseases

AB094. Characteristic of ATP7B gene mutation in Vietnamese Wilson patients and asymptomatic diagnosis for their siblings
Huong M. T. Nguyen, Hoa A. P. Nguyen, Mai P. T. Nguyen, Chi V. Phan, Van T. Ta, Ngoc D. Ngo

Molecular Genetics, Genomics, Mechanisms of Diseases

AB095. Prenatal diagnosis of Duchenne muscular dystrophy by combining of multiplex Polymerase Chain Reaction and Multiplex Ligation dependent Probe Amplification
Manh Tien Ngo, Thi Phuong Mai Nguyen, Thi Tuyet Nhung Ngo, Thi Mai Huong Nguyen, Thuy Lan An, Diem Ngoc Ngo, Chi Dung Vu, Phuong Thao Bui

Molecular Genetics, Genomics, Mechanisms of Diseases

AB096. Molecular diagnosis of aniridia or WAGR syndrome using a simple DHPLC-based semi-quantitative multiplex PCR for detection of PAX6 large deletion
Ratchadaporn Chanayat, Sunisa Sawasdichai, Chanin Limwongse, Wanna Thongnoppakhun

Molecular Genetics, Genomics, Mechanisms of Diseases

AB097. Combined effects of RET transcriptional enhancer variants in Hirschsprung disease
Fuad Dheni Musthofa, . Rochadi, Fnu Gunadi

Molecular Genetics, Genomics, Mechanisms of Diseases

AB098. Genotype-phenotype association studies in patients with Beta-thalassemia: a systematic review
April Grace Berboso, Catherine Lynn Silao, Leonila Dans

Complex Genetic Disorders, Genetic Susceptibility to Infections

AB099. Joint effects of RET and SEMA3 polymorphisms in Hirschsprung disease
Wiwid Santiko, Akhmad Makhmudi, . Gunadi

Genetic Counselling and Education

AB100. Current status, challenges, and future prospective of genetic counseling in Taiwan
Mei-Hsin Li

Newborn Screening, Inborn Errors of Metabolism

AB101. Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometr
Yung-Hsiu Lu, Po-Hsun Huang, Li-Yun Wang, Ting-Rong Hsu, Hsing-Yuan Li, Yu-Ping Hsieh, Sheng-Che Hung, Dau-Ming Niu

Newborn Screening, Inborn Errors of Metabolism

AB102. A pilot newborn screening program for X-linked adrenoleukodystrophy
Pinwen Chen, Shiao-Fang Wang, Li-Hsin Chen, Yu-Shan Tseng, Yin-Hsiu Chien

Population Genetics, Genetic Epidemiology, Statistics, Bioinformatics

AB103. A sequence variation of short tandem repeat observed in paternity cases using massively parallel sequencing technology
Poonyapat Sukawutthiya, Tikumphorn Sathirapatyaa, Kornkiat Vongpaisarnsina

Newborn Screening, Inborn Errors of Metabolism

AB104. Evaluation of a new non-derivatized MS/MS kit in newborn screening program
Pinwen Chen, Shiao-Fang Wang, Li-Hsin Chen, Li-Yan Chiou, Yu-Shan Tseng, Yin-Hsiu Chien

Newborn Screening, Inborn Errors of Metabolism

AB105. UPLC: an analytical technique to diagnose amino acid disorders accurately in biological samples
Sanjeev Pandey, Jyotsna Verma, Ratna D. Puri

Birth Defects, Dysmorphology, Skeletal Dysplasia, Craniofacial Anomalies

AB106. Study of functional independence of patients with Hunter syndrome (mucopolysaccharidosis type II)
Thu Ha Nguyen, Mo Do Thi, Huong Bui Thi, Xuan Bui Thi, Linh Tran THi Thuy, Hoa Do Thi, Hoa Nguyen Thi Thanh, Dung Vu Chi

Birth Defects, Dysmorphology, Skeletal Dysplasia, Craniofacial Anomalies

AB107. Study of functional independence of patients with osteogenesis imperfecta
Thu Ha Nguyen, Linh Tran Thi Thuy, Xuan Bui Thi, Huong Bui Thi, Hoa Do Thi, Hoa Nguyen Thi Thanh, Mo Do Thi, Ha Nguyen Thu

Clinical Genetics

AB108. Oral findings of Apert Syndrome case found in Cirebon
Ariestya Indah Permata Sari, Donny Nauphar, Tiar M. Pratamawati, Venty Muliana Sari Soeroso

Cancer Genetics

AB109. Novel constitutional and somatic RB1 mutations underlying retinal cancers in addition to TNFα, KIF13A and MGMT alterations
Swati Tomar, Raman Sethi, Gangadhara Sundar, Thuan Chong Quah, Boon Long Quah, Poh San Lai

Molecular Genetics, Genomics, Mechanisms of Diseases

AB110. Genotype and phenotype of 107 patients with congenital hyperinsulinism
Dung Chi Vu, Ngoc T. B. Can, Khanh Ngoc Nguyen, Thao Phuong Bui, Hai Thanh Le, Dat Phu Nguyen, Duong Anh Dang, Sian Ellard

Prenatal Genetics, Reproductive Genetics

AB111. Prenatal treatment and fertility of female patients with congenital adrenal hyperplasia
Dung Chi Vu, Khanh Ngoc Nguyen, Ngoc Thi Bich Can, Thao Phuong Bui, Hai Thanh Le

Newborn Screening, Inborn Errors of Metabolism

AB112. Spectrum of mucopolysaccharidoses in Vietnam
Dung Chi Vu, Ngoc Bich Thi Can, Khanh Ngoc Nguyen, Thao Phuong Bui, Han-Wook Yoo, Gu-Hwan Kim, Wuh-Liang Hwu

Newborn Screening, Inborn Errors of Metabolism

AB113. Experiences from coordinating parents whose child with positive results of newborn screening of congenital adrenal hyperplasia
Shu Chien

Clinical Genetics

AB114. Study of functional independence of patients with Duchene muscular dystrophy
Thu Ha Nguyen, Huong Bui Thi, Linh Tran Thi Thuy, Mo Do Thi, Hoa Nguyen Thi Thanh, Xuan Bui Thi, Hoa Do Thi, Ha Nguyen Thu

Prenatal Genetics, Reproductive Genetics

AB115. Prenatal diagnosis for severe cases of targets in expanded newborn screening
Seiji Yamaguchi, Yuki Hasegawa, Kenji Yamada, Ryosuke Bo, Hironori Kobayashi, Takeshi Taketani

Prenatal Genetics, Reproductive Genetics

AB116. Estimating the effectiveness of free β-hCG and PAPP-A in first trimester dried blood spot verses fresh serum
Ankur Jindal, Sunil Kumar Polipalli, Sangeeta Gupta, Sudha Prasad, Anjali Tempe, Seema Kapoor

Molecular Genetics, Genomics, Mechanisms of Diseases

AB117. Rearranging workflow to improve turn-around time for genetic testing: doing more with less
Sharon Bain, Janice M. Fletcher, Rachel Hall, Scott Grist

Clinical Genetics

AB118. Association between clinical phenotypes and neurodevelopmental outcomes in pediatric patients with neurofibromatosis type 1 at Siriraj hospital
Chatchai Thamrongajariyakul, Achara Sathienkijkanchai

Clinical Genetics

AB119. Computer-aided facial recognition of Chinese individuals with 22q11.2 deletion-algorithm training using NIH atlas of human malformation syndromes from diverse population
Gary Tsz Kin Mok, Brian Hon-Yin Chung

Complex Genetic Disorders, Genetic Susceptibility to Infections

AB120. Cholelithiasis in a Filipino child with chronic neuronopathic Gaucher disease: report of a case
Mary Ann Abacan, Mary Anne D. Chiong

Newborn Screening, Inborn Errors of Metabolism

AB121. Late infantile neuronal ceroid lipofuscinosis in a Filipino child presenting with epilepsy and progressive neurodegeneration
Mary Anne D. Chiong, Benilda Sanchez-Gan

Birth Defects, Dysmorphology, Skeletal Dysplasia, Craniofacial Anomalies

AB122. Occurrence of birth defects at the Philippine General Hospital, 2013–2014: a prospective study
Maria Melanie Liberty Alcausin, Aster Lynn D. Sur, Ma-Am Joy R. Tumulak, Carmencita D. Padilla

Complex Genetic Disorders, Genetic Susceptibility to Infections

AB123. Correlation between neonatal TSH and maternal urinary iodine: perspective from a developing country
Haseena Sait, Ankur Jindal, Ravi Shankar Belwal, Sangeeta Yadav, Siddarth Ramji, Bittianda Kuttapa Thelma, Seema Kapoor

Birth Defects, Dysmorphology, Skeletal Dysplasia, Craniofacial Anomalies

AB124. Craniofacial anomalies: an experience at Siriraj Hospital
Pornswan Wasant, Achara Sathienkijkanchai, Nithiwat Vatanavicharn, Somporn Liammongkolkul

Genetic Counseling and Education

AB125. Down syndrome parents support group in Thailand: twenty-five years experiences
Pornswan Wasant

Birth Defects, Dysmorphology, Skeletal Dysplasia, Craniofacial Anomalies

AB126. Genetic skeletal dysplasias in Thailand: twenty-five years experiences at Siriraj Hospital
Pornswan Wasant, Nithiwat Vattanawicharn, Achara Sathienkitkanchai, Somporn Liammongkolkul

Genetic Dounseling and Education

AB127. Provision of medical genetic services in Thailand: Siriraj experience
Pornswan Wasant, Achara Sathienkijkanchai, Nithiwat Vatanavicharn, Somporn Liammongkolkul

Molecular Genetics, Genomics, Mechanisms of Diseases

AB128. The first report of a hereditary persistent fetal hemoglobinemia of the Southeast Asian type deletion in the North of Vietnam
Ly Thi Thanh Ha

Molecular Genetics, Genomics, Mechanisms of Diseases

AB129. Prevalence of ATP7B mutation hotspots in Thai population
Boonyawish Kunakorn, Sermsiri Chitphuk, Manisa Boosabaratana, Atchara Tunteeratum, Thanyachai Sura, Donniphat Dejsuphong

Pharmacogenetics, Pharmacogenomics, Precision Medicine

AB130. Comprehensive analysis of CYP2D6 and copy number variants using reverse-hybridization and real-time PCR-based assays
Anne Berndt, Christian Oberkanins, Helene Puehringer

Molecular Genetics, Genomics, Mechanisms of Diseases

AB131. Case report: a couple having a child affected with beta thalassemia major and another child with hydrops fetalis
Thi Tuyet Nhung Ngo, Thi Thanh Ha Ly, Diem Ngoc Ngo, Thi Phuong Mai Nguyen, Thuy Lan An, Thi Mai Huong Nguyen, Manh Tien Ngo, Hoang Nam Nguyen

Molecular Genetics, Genomics, Mechanisms of Diseases

AB132. The role of oxytocin-neurophysin I in contributing to human personality traits and plasma immunogenic oxytocin levels
Anne Chong, Poh San Lai, Soo Hong Chew, Jean-Philippe Gouin, Richard P. Ebstein

Newborn Screening, Inborn Errors of Metabolism

AB133. Expanded newborn screening program in Thailand
Somporn Liammongkolkul, Kasinat Sanomcham, Nithiwat Vatanavicharn, Achara Sathienkijkanchai, Enzo Ranieri, Pornswan Wasant

Editorial

Will the 40-gene expression classifier predict responders to EGFR targeted chemotherapy for the invasive bladder cancer patients?
Jayoung Kim, Wun-Jae Kim
Translating basic science discoveries to clinical practice—Let us not repeat the naiveté of the pre-omics era
Kimberly J. Payne, Abigail Benitez, Sinisa Dovat
Circulating donor-derived cell-free DNA: a true biomarker for cardiac allograft rejection?
Kevin P. Daly
Elucidating new drug targets in psoriasis by gene profiling: an opportunity to be seized
Mark R. Walter
Safe anticoagulation when heart and lungs are “on vacation”
Marina A. Dobrovolskaia, Scott E. McNeil
γδ T cells and immunity to human malaria in endemic regions
Samarchith P. Kurup, John T. Harty
Apyrase as a novel therapeutic inhibitor of heterotopic ossification
Olin D. Liang, Anthony M. Reginato, Damian Medici
The CRISPR road: from bench to bedside on an RNA-guided path
Benjamin Garcia-Bloj, Colette Moses, Pilar Blancafort
Microbiome, a new dimension in cancer research
Antonio Galvao Neto, Azore-Dee Bradshaw, Zhiheng Pei
Selecting efficacious Bcl-2 family inhibitors for optimal clinical outcome
Irfana Muqbil, Ramzi M. Mohammad
Is spread through alveolar spaces, the newly recognized pattern of invasion, a potential game changer in lung adenocarcinoma?
Sarina Bains, Prasad S. Adusumilli
Significance of IASLC/ATS/ERS classification for early-stage lung adenocarcinoma patients in predicting benefit from adjuvant chemotherapy
Yusuke Takahashi, Takashi Eguchi, Sarina Bains, Prasad S. Adusumilli
Radiotherapy: killing with complement
Jean F. Regal, Kenneth J. Dornfeld, Sherry D. Fleming
Getting to the core of fibrosis: targeting redox imbalance in aging
Louise Hecker, Victor J. Thannickal

Commentary

Applications of iPSC-derived models of Gaucher disease
Daniel K. Borger, Elma Aflaki, Ellen Sidransky
The impact of sedation protocols on outcomes in critical illness
Benjamin Scott, Tobias Eckle

Review Article

Osteonecrosis of the knee: review
Ammar R. Karim, Jeffrey J. Cherian, Julio J. Jauregui, Todd Pierce, Michael A. Mont
Update in genetic susceptibility in melanoma
Miriam Potrony, Celia Badenas, Paula Aguilera, Joan Anton Puig-Butille, Cristina Carrera, Josep Malvehy, Susana Puig
State of the art management of metastatic gastroesophageal cancer
Adrian G. Murphy, David Lynch, Ronan J. Kelly

Original Article

Hyaluronan expression in primary and secondary brain tumors
Laurence Jadin, Sandra Pastorino, Rebecca Symons, Natsuko Nomura, Ping Jiang, Tiffany Juarez, Milan Makale, Santosh Kesari
Muscle pathology, limb strength, walking gait, respiratory function and neurological impairment establish disease progression in the p.N155K canine model of X-linked myotubular myopathy
Melissa A. Goddard, David L. Mack, Stefan M. Czerniecki, Valerie E. Kelly, Jessica M. Snyder, Robert W. Grange, Michael W. Lawlor, Barbara K. Smith, Alan H. Beggs, Martin K. Childers

Review Articles

Functional role of microvesicles in gastrointestinal malignancies
Kelly McDaniel, Robert Correa, Tianhao Zhou, Christopher Johnson, Heather Francis, Shannon Glaser, Julie Venter, Gianfranco Alpini, Fanyin Meng
Effect of high fat-diet and obesity on gastrointestinal motility
Mazen Al Mushref, Shanthi Srinivasan
The physiological roles of secretin and its receptor
Syeda Afroze, Fanyin Meng, Kendal Jensen, Kelly McDaniel, Kinan Rahal, Paolo Onori, Eugenio Gaudio, Gianfranco Alpini, Shannon S. Glaser

Highlighted Reports in Galectins

Role of galectins in re-epithelialization of wounds
Noorjahan Panjwani

Helicobacter Pylori

Diagnosis of Helicobacter pylori using the rapid urease test
Takahiro Uotani, David Y. Graham

Review Article on MicroRNAs, Signalling Pathways and Diseases

MicroRNAs in congenital heart disease
Tanya Smith, Cha Rajakaruna, Massimo Caputo, Costanza Emanueli

Review Article on Toward Precision Medicine in Neurological Diseases

Precision medicine in spinocerebellar ataxias: treatment based on common mechanisms of disease
David D. Bushart, Geoffrey G. Murphy, Vikram G. Shakkottai

Focus on Toward Precision Medicine in Neurological Diseases

Toward precision medicine in Alzheimer’s disease
Christiane Reitz

Below are the latest Annals of Translational Medicine articles published online ahead of print publication.

Editorial



Commentary


Review Article


Original Article


Case Report



Letter to the Editor


Meeting Report

Report from the II melanoma translational meeting of the Spanish Melanoma Group (GEM)
Maria Gonzalez-Cao, Alfonso Berrocal, Susana Puig, Niki Karachaliou, Leticia De Matos-Arruda, Joan Seoane, David Escors, Carmen Alvarez, Jose Pedro Vaque, Aleix Prat, Claudia Wellbrock, Imanol Arozarena, Ivan Marquez-Rodas, Enrique Espinosa, Migue Angel Molina, Teresa Puertolas, Manuel Juan-Otero, Rosina Malagrida, Eloisa Jantus-Lewintre, Virtudes Soriano, Ana Arance, Jose Luis Manzano, Paul Lorigan, Thomas F. Gajewski, Rafael Rosell, On behalf of the Spanish Melanoma Group (GEM)

Big-data Clinical Trial Column



Technical Note