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Yen‐Yin Chou

Observed names: YEN-YIN CHOU, Yen Yin Chou, Yen-Yin Chou, Yen-yin Chou
Observed institutions: Centre Hospitalier Universitaire de Caen Normandie, Chi Mei Medical Center, National Cheng Kung University Hospital, Imperial College London, National Cheng Kung University, Université de Caen Normandie
ORCID: 0000-0003-3599-2284
Observed ORCID: 0000-0003-3599-2284
OpenAlex ID: A5040568846
Rescue of defective G protein–coupled receptor function in vivo by intermolecular cooperation
2010 · Adolfo Rivero-Müller, Yen-Yin Chou, et al. · Proceedings of the National Academy of Sciences · 210
A new FSHβ mutation in a 29-year-old woman with primary amenorrhea and isolated FSH deficiency: functional characterization and ovarian response to human recombinant FSH
2009 · Marie-Laure Kottler, Yen-Yin Chou, et al. · European Journal of Endocrinology · 59
Childhood neurodevelopmental disorders and maternal diabetes: A population‐based cohort study
2022 · Kuan‐Ru Chen, Tsung Yu, et al. · Developmental Medicine & Child Neurology · 51
Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences
2020 · Yin-Hsiu Chien, Wen-Hui Tsai, et al. · Molecular Genetics and Metabolism Reports · 49
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Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese
2019 · Mullin Ho-Chung Yu, Mandy Ho-Yin Tsang, et al. · npj Genomic Medicine · 45
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Developing an intervention strategy to reduce phthalate exposure in Taiwanese girls
2015 · Chung-Yu Chen, Yen-Yin Chou, et al. · The Science of The Total Environment · 41
Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients With Severe Illnesses*
2019 · En-Ting Wu, Wuh-Liang Hwu, et al. · Pediatric Critical Care Medicine · 36
Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995–2012
2016 · Hsiang-Yu Lin, Chih-Kuang Chuang, et al. · Orphanet Journal of Rare Diseases · 35
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Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series
2016 · Hsiang-Yu Lin, Chih-Kuang Chuang, et al. · Molecular Genetics and Metabolism Reports · 32
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Early Adiposity Rebound and Obesity in Children with Congenital Hypothyroidism
2012 · Shou-Yen Chen, Shio-Jean Lin, et al. · Pediatrics & Neonatology · 25
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High resolution melting analysis for the detection of SLC25A13 gene mutations in Taiwan
2010 · Jing-Ting Lin, Kwang-Jen Hsiao, et al. · Clinica Chimica Acta · 23
PAX2 Mutation-Related Renal Hypodysplasia: Review of the Literature and Three Case Reports
2022 · Yu-Ming Chang, Chih-Chia Chen, et al. · Frontiers in Pediatrics · 21
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Metabolic correlates of health-related quality of life among overweight and obese adolescents
2018 · Chih-Ting Lee, Chung-Ying Lin, et al. · BMC Pediatrics · 21
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Combining Panel-Based Next-Generation Sequencing and Exome Sequencing for Genetic Liver Diseases
2023 · Chi-Bo Chen, Jacob Shujui Hsu, et al. · The Journal of Pediatrics · 19
Risk Factors for Hyperglycemia During Chemotherapy for Acute Lymphoblastic Leukemia Among Taiwanese Children
2015 · Meng-Che Tsai, Hsin-Hui Huang, et al. · Pediatrics & Neonatology · 19
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Rare Compound Heterozygous Frameshift Mutations in ALMS1 Gene Identified Through Exome Sequencing in a Taiwanese Patient With Alström Syndrome
2018 · Meng-Che Tsai, Hui-Wen Yu, et al. · Frontiers in Genetics · 18
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Bile acid profiles in neonatal intrahepatic cholestasis caused by citrin deficiency
2017 · Ching-Hsuan Yang, Chiung-Yu Chen, et al. · Clinica Chimica Acta · 16
The relationship between nonalcoholic fatty liver disease and pediatric congenital hypothyroidism patients
2019 · Yu‐Wen Pan, Meng‐Che Tsai, et al. · The Kaohsiung Journal of Medical Sciences · 14
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De novo mutation and skewed X‐inactivation in girl with BCAP31 ‐related syndrome
2020 · Hsiao‐Jung Kao, Hung‐Lun Chiang, et al. · Human Mutation · 13
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Clinical suppression of precocious puberty with cetrorelix after failed treatment with GnRH agonist in a girl with gonadotrophin-independent precocious puberty
2005 · Meng-Hsing Wu, Shio-Jean Lin, et al. · Reproductive BioMedicine Online · 13
Russell-Silver syndrome: molecular diagnosis of maternal uniparental disomy of chromosome 7 using methylation-specific polymerase chain reaction assay and single nucleotide polymorphisms genotyping.
2004 · Yen-Yin Chou, Chien-Chang Chen, et al. · PubMed · 13
Enzyme Replacement Therapy for Children with Acid Sphingomyelinase Deficiency in the Real World: A Single Center Experience in Taiwan
2022 · Yu-Wen Pan, Meng-Che Tsai, et al. · Molecular Genetics and Metabolism Reports · 12
Sex-Reversed Acampomelic Campomelic Dysplasia With a Homozygous Deletion Mutation in SOX9 Gene
2011 · Shou-Yen Chen, Shio-Jean Lin, et al. · Urology · 12
Hypophosphatemic Rickets Associated with Epidermal Nevus Syndrome and Giant Hairy Nevus
2005 · Yen-Yin Chou, Sheau-Chiou Chao, et al. · Journal of Pediatric Endocrinology and Metabolism · 12
Partial trisomy of chromosome 21 without the Down syndrome phenotype
2016 · Mei-Tsz Su, Long-Ching Kuan, et al. · Prenatal Diagnosis · 11
Works count: 82
Citation count: 1,009
H-index: 16
I10-index: 28
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