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Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia

American journal of human genetics, 2019-05, Vol.104 (5), p.936-947

2019

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Rapid Multiplexed Proteomic Screening for Primary Immunodeficiency Disorders From Dried Blood Spots

Frontiers in immunology, 2018-12, Vol.9, p.2756-2756

2018

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Immune dysfunction in MGAT2‐CDG: A clinical report and review of the literature

American journal of medical genetics. Part A, 2021-01, Vol.185 (1), p.213-218

2021

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Refractory Myoclonus as a Presentation of Metabolic Stroke in A Child With Cobalamin B Methylmalonic Acidemia After Liver and Kidney Transplant

Journal Of Movement Disorders, 2022, 15(3), , pp.281-283

2022

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Congenital disorders of glycosylation

Annals of translational medicine, 2018-12, Vol.6 (24), p.477-477

2018

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Pharmacokinetics of oral l-serine supplementation in a single patient

Molecular genetics and metabolism reports, 2020-09, Vol.24, p.100607, Article 100607

2020

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The genetics of Wilson disease

Handbook of Clinical Neurology, 2017, Vol.142, p.19-34

2017

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The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses

JIMD reports, 2021-07, Vol.60 (1), p.67-74

2021

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Regulation of synaptic transmission at the photoreceptor terminal: a novel role for the cation–chloride co‐transporter NKCC1

The Journal of physiology, 2013-01, Vol.591 (1), p.133-147

2013

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The co‐occurrence of Wilson disease and X‐linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis

Molecular genetics & genomic medicine, 2020-04, Vol.8 (4), p.e1172-n/a

2020

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Multivitamin and mineral supplementation is associated with the reduction of fracture risk and hospitalization rate in Chinese adult males: a randomized controlled study

Journal of bone and mineral metabolism, 2015-05, Vol.33 (3), p.294-302

2015

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COQ2 nephropathy: a treatable cause of nephrotic syndrome in children

Pediatric nephrology (Berlin, West), 2018-07, Vol.33 (7), p.1257-1261

2018

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Effect of an educational intervention on HPV knowledge and vaccine attitudes among urban employed women and female undergraduate students in China: a cross-sectional study

BMC public health, 2013-10, Vol.13 (1), p.916-916, Article 916

2013

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Influence of enteral feeding and anemia on tissue oxygen extraction after red blood cell transfusion in preterm infants

Transfusion (Philadelphia, Pa.), 2020-03, Vol.60 (3), p.466-472

2020

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Tutorial: Triheptanoin and Nutrition Management for Treatment of Long‐Chain Fatty Acid Oxidation Disorders

JPEN. Journal of parenteral and enteral nutrition, 2021-02, Vol.45 (2), p.230-238

2021

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Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort

Molecular genetics and metabolism, 2024-08, Vol.142 (4), p.108509, Article 108509

2024

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Elevated oxysterol and N‐palmitoyl‐O‐phosphocholineserine levels in congenital disorders of glycosylation

Journal of inherited metabolic disease, 2023-03, Vol.46 (2), p.326-334

2023

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Novel pregnancy‐triggered episodes of CAPOS syndrome

American journal of medical genetics. Part A, 2018-01, Vol.176 (1), p.235-240

2018

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Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants

American journal of medical genetics. Part A, 2018-07, Vol.176 (7), p.1675-1679

2018

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Factor VIII and vWF deficiency in STT3A‐CDG

Journal of inherited metabolic disease, 2019-03, Vol.42 (2), p.325-332

2019

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3-hour genome sequencing and targeted analysis to rapidly assess genetic risk

Genetics in Medicine Open, 2024, Vol.2, p.101833, Article 101833

2024

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The Natural History of Cervical Cancer in Chinese Women: Results from an 11-Year Follow-Up Study in China Using a Multistate Model

Cancer epidemiology, biomarkers & prevention, 2014-07, Vol.23 (7), p.1298-1305

2014

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Distribution of cervical intraepithelial neoplasia on the cervix in Chinese women: pooled analysis of 19 population based screening studies

BMC cancer, 2015-06, Vol.15 (1), p.485-485, Article 485

2015

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Comparison of HPV genotypes and viral load between different sites of genital tract: The significance for cervical cancer screening

Cancer epidemiology, 2014-04, Vol.38 (2), p.168-173

2014

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Short-term Neurodevelopmental Outcomes in Neonates with Congenital Heart Disease: The Era of Newer Surgical Strategies

Congenital heart disease, 2012-11, Vol.7 (6), p.544-550

2012

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Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia

Rapid Multiplexed Proteomic Screening for Primary Immunodeficiency Disorders From Dried Blood Spots

Immune dysfunction in MGAT2‐CDG: A clinical report and review of the literature

Refractory Myoclonus as a Presentation of Metabolic Stroke in A Child With Cobalamin B Methylmalonic Acidemia After Liver and Kidney Transplant

Congenital disorders of glycosylation

Pharmacokinetics of oral l-serine supplementation in a single patient

The genetics of Wilson disease

The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses

Regulation of synaptic transmission at the photoreceptor terminal: a novel role for the cation–chloride co‐transporter NKCC1

The co‐occurrence of Wilson disease and X‐linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis

Multivitamin and mineral supplementation is associated with the reduction of fracture risk and hospitalization rate in Chinese adult males: a randomized controlled study

COQ2 nephropathy: a treatable cause of nephrotic syndrome in children

Effect of an educational intervention on HPV knowledge and vaccine attitudes among urban employed women and female undergraduate students in China: a cross-sectional study

Influence of enteral feeding and anemia on tissue oxygen extraction after red blood cell transfusion in preterm infants

Tutorial: Triheptanoin and Nutrition Management for Treatment of Long‐Chain Fatty Acid Oxidation Disorders

Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort

Elevated oxysterol and N‐palmitoyl‐O‐phosphocholineserine levels in congenital disorders of glycosylation

Novel pregnancy‐triggered episodes of CAPOS syndrome

Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants

Factor VIII and vWF deficiency in STT3A‐CDG

3-hour genome sequencing and targeted analysis to rapidly assess genetic risk

The Natural History of Cervical Cancer in Chinese Women: Results from an 11-Year Follow-Up Study in China Using a Multistate Model

Distribution of cervical intraepithelial neoplasia on the cervix in Chinese women: pooled analysis of 19 population based screening studies

Comparison of HPV genotypes and viral load between different sites of genital tract: The significance for cervical cancer screening

Short-term Neurodevelopmental Outcomes in Neonates with Congenital Heart Disease: The Era of Newer Surgical Strategies

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