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Development of clinical genetics in Asia

American journal of medical genetics. Part C, Seminars in medical genetics, 2019-06, Vol.181 (2), p.150-154

2019

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Specific phenotype semantics facilitate gene prioritization in clinical exome sequencing

European journal of human genetics : EJHG, 2019-09, Vol.27 (9), p.1389-1397

2019

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Genetic variation in CD38 and breastfeeding experience interact to impact infants’ attention to social eye cues

Proceedings of the National Academy of Sciences - PNAS, 2015-09, Vol.112 (39), p.E5434-E5442

2015

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Asia Pacific Society of Human Genetics (APSHG) from conception to 2019: 13 years of collaboration to tackle congenital malformation and genetic disorders in Asia

American journal of medical genetics. Part C, Seminars in medical genetics, 2019-06, Vol.181 (2), p.155-165

2019

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Novel Autoantibodies in Idiopathic Small Fiber Neuropathy

Annals of neurology, 2022-01, Vol.91 (1), p.66-77

2022

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Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management

Archives of disease in childhood, 2021-01, Vol.106 (1), p.31

2021

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Blending oxytocin and dopamine with everyday creativity

Scientific reports, 2021-08, Vol.11 (1), p.16185-9, Article 16185

2021

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Embryo and fetal gene editing: Technical challenges and progress toward clinical applications

Molecular therapy. Methods & clinical development, 2024-06, Vol.32 (2), p.101229-101229, Article 101229

2024

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Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report

BMC pediatrics, 2022-10, Vol.22 (1), p.1-601, Article 601

2022

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Delay discounting, genetic sensitivity, and leukocyte telomere length

Proceedings of the National Academy of Sciences - PNAS, 2016-03, Vol.113 (10), p.2780-2785

2016

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Ethics and regulatory considerations for the clinical translation of somatic cell human epigenetic editing

Stem cell reports, 2021-07, Vol.16 (7), p.1652-1655

2021

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Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients

Brain & development (Tokyo. 1979), 2014-11, Vol.36 (10), p.914-920

2014

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Intron-retained transcripts of the spinal muscular atrophy genes, SMN1 and SMN2

Brain & development (Tokyo. 1979), 2018-09, Vol.40 (8), p.670-677

2018

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Effect of semaphorin 3C gene variants in multifactorial Hirschsprung disease

Journal of international medical research, 2021-02, Vol.49 (2), p.300060520987789-300060520987789

2021

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Ethical considerations of preconception and prenatal gene modification in the embryo and fetus

Human reproduction (Oxford), 2021-11, Vol.36 (12), p.3018-3027

2021

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SMA mutations in SMN Tudor and C-terminal domains destabilize the protein

Brain & development (Tokyo. 1979), 2017-08, Vol.39 (7), p.606-612

2017

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A clinical approach to diagnosis and management of mitochondrial myopathies

Neurotherapeutics, 2024-01, Vol.21 (1), p.e00304-e00304, Article e00304

2024

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The contributions of oxytocin and vasopressin pathway genes to human behavior

Hormones and behavior, 2012-03, Vol.61 (3), p.359-379

2012

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Association among dispositional mindfulness, self-compassion, and leukocyte telomere length in Chinese adults

BMC Psychology, 2019-07, Vol.7 (1), p.47-47, Article 47

2019

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Valproic acid increases SMN2 expression and modulates SF2/ASF and hnRNPA1 expression in SMA fibroblast cell lines

Brain & development (Tokyo. 1979), 2012-03, Vol.34 (3), p.213-222

2012

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Genetic Variation in the Maternal Oxytocin System Affects Cortisol Responsiveness to Breastfeeding in Infants and Mothers

Adaptive human behavior and physiology, 2018-09, Vol.4 (3), p.248-263

2018

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Genetic variation in the oxytocin system and its link to social motivation in human infants

Psychoneuroendocrinology, 2021-09, Vol.131, p.105290-105290, Article 105290

2021

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Spinal Muscular Atrophy: New Screening System with Real-Time mCOP-PCR and PCR-RFLP for SMN1 Deletion

Kobe journal of the medical sciences, 2019, Vol.65 (2), p.E44-E48

2019

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Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling

PloS one, 2017-06, Vol.12 (6), p.e0178776-e0178776

2017

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Nested PCR Amplification Secures DNA Template Quality and Quantity in Real-time mCOP-PCR Screening for SMA

Kobe journal of the medical sciences, 2019, Vol.65 (2), p.E54-E58

2019

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Development of clinical genetics in Asia

Specific phenotype semantics facilitate gene prioritization in clinical exome sequencing

Genetic variation in CD38 and breastfeeding experience interact to impact infants’ attention to social eye cues

Asia Pacific Society of Human Genetics (APSHG) from conception to 2019: 13 years of collaboration to tackle congenital malformation and genetic disorders in Asia

Novel Autoantibodies in Idiopathic Small Fiber Neuropathy

Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management

Blending oxytocin and dopamine with everyday creativity

Embryo and fetal gene editing: Technical challenges and progress toward clinical applications

Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report

Delay discounting, genetic sensitivity, and leukocyte telomere length

Ethics and regulatory considerations for the clinical translation of somatic cell human epigenetic editing

Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients

Intron-retained transcripts of the spinal muscular atrophy genes, SMN1 and SMN2

Effect of semaphorin 3C gene variants in multifactorial Hirschsprung disease

Ethical considerations of preconception and prenatal gene modification in the embryo and fetus

SMA mutations in SMN Tudor and C-terminal domains destabilize the protein

A clinical approach to diagnosis and management of mitochondrial myopathies

The contributions of oxytocin and vasopressin pathway genes to human behavior

Association among dispositional mindfulness, self-compassion, and leukocyte telomere length in Chinese adults

Valproic acid increases SMN2 expression and modulates SF2/ASF and hnRNPA1 expression in SMA fibroblast cell lines

Genetic Variation in the Maternal Oxytocin System Affects Cortisol Responsiveness to Breastfeeding in Infants and Mothers

Genetic variation in the oxytocin system and its link to social motivation in human infants

Spinal Muscular Atrophy: New Screening System with Real-Time mCOP-PCR and PCR-RFLP for SMN1 Deletion

Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling

Nested PCR Amplification Secures DNA Template Quality and Quantity in Real-time mCOP-PCR Screening for SMA

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