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Jingsi Luo

Boston Children's Hospital

48

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288

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A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8.

2021 Molecular Genetics & Genomic Medicine
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CNV profiles of Chinese pediatric patients with developmental disorders.

2021 Genetics in Medicine
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Analysis of metabolic profile and genetic variants for newborns with primary carnitine deficiency from Guangxi

2021 Chinese journal of medical genetics
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A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: A case report

2021 Experimental and Therapeutic Medicine
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A high proportion of novel ACAN mutations and their prevalence in a large cohort of Chinese short stature children.

2021 The Journal of Clinical Endocrinology and Metabolism
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Whole‐exome sequencing identified novel compound heterozygous variants in a Chinese neonate with liver failure and review of literature

2020 Molecular Genetics & Genomic Medicine
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A novel missense mutation in F9 gene causes hemophilia B in a family with clinical variability

2020 Blood Coagulation & Fibrinolysis
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Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia.

2020 BMC Medical Genetics
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Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene-disease relationship.

2020 Molecular Genetics & Genomic Medicine
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A novel splicing mutation in F8 causes various aberrant transcripts in a hemophilia A patient and identifies a new transcript from healthy individuals.

2020 Blood Coagulation & Fibrinolysis
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