Hua-ying Hu

Beijing, China

Last Updated: 09/26/2026

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Found 18 publications

Functional and clinical evidence for two novel heterozygous BUB1B variants and their value in precision genetic counseling for recurrent pregnancy loss.

Functional and clinical evidence for two novel heterozygous BUB1B variants and their value in precision genetic counseling for recurrent pregnancy loss.

Journal: Frontiers in endocrinology
Published: March 25, 2026

Phenotype-genotype correlation in a cohort of 15 patients with hereditary ichthyosis.

Phenotype-genotype correlation in a cohort of 15 patients with hereditary ichthyosis.

Journal: Clinica chimica acta; international journal of clinical chemistry
Published: December 25, 2025

Whole-genome sequencing identifies HOXD13 variants in syndactyly pedigrees.

Whole-genome sequencing identifies HOXD13 variants in syndactyly pedigrees.

Journal: Human genomics
Published: September 12, 2025

Case Report: Biallelic PADI6 frameshift variants contribute to preimplantation embryonic lethality.

Case Report: Biallelic PADI6 frameshift variants contribute to preimplantation embryonic lethality.

Journal: Frontiers in genetics
Published: July 17, 2025

SEC24D depletion induces osteogenic differentiation deficiency by inactivating the ATF6/TGF-β/Runx2 regulatory loop.

SEC24D depletion induces osteogenic differentiation deficiency by inactivating the ATF6/TGF-β/Runx2 regulatory loop.

Journal: Communications biology
Published: October 09, 2024

Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection.

Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection.

Journal: Molecular genetics & genomic medicine
Published: March 31, 2024

Novel PATL2 variants cause female infertility with oocyte maturation defect.

Novel PATL2 variants cause female infertility with oocyte maturation defect.

Journal: Journal of assisted reproduction and genetics
Published: January 23, 2024

Genetic analysis of seven patients with inherited ichthyosis and Nagashima‑type palmoplantar keratoderma.

Genetic analysis of seven patients with inherited ichthyosis and Nagashima‑type palmoplantar keratoderma.

Journal: Molecular medicine reports
Published: November 21, 2023

Identification of Novel NSD1 variations in four Pediatric cases with sotos Syndrome.

Identification of Novel NSD1 variations in four Pediatric cases with sotos Syndrome.

Journal: BMC medical genomics
Published: August 22, 2023

Functional assessment of a novel biallelic MYH3 variation causing CPSKF1B (contractures, pterygia, and spondylocarpotarsal fusion syndrome1B).

Functional assessment of a novel biallelic MYH3 variation causing CPSKF1B (contractures, pterygia, and spondylocarpotarsal fusion syndrome1B).

Journal: Molecular genetics & genomic medicine
Published: August 07, 2023

NTRK1 knockdown induces mouse cognitive impairment and hippocampal neuronal damage through mitophagy suppression via inactivating the AMPK/ULK1/FUNDC1 pathway.

NTRK1 knockdown induces mouse cognitive impairment and hippocampal neuronal damage through mitophagy suppression via inactivating the AMPK/ULK1/FUNDC1 pathway.

Journal: Cell death discovery
Published: June 01, 2023

Prenatal Cases Reflect the Complexity of the COL1A1/2 Associated Osteogenesis Imperfecta.

Prenatal Cases Reflect the Complexity of the COL1A1/2 Associated Osteogenesis Imperfecta.

Journal: Genes
Published: July 27, 2022
Showing 1-12 of 18

Last Updated: 09/26/2026