Xiangyou Leng
Chengdu, China
Last Updated: 09/26/2026
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Found 16 publications
Correcting PVS1 overestimation: clinical insights into rescue transcripts and variant reclassification in 4 prenatal cases.
Journal: Frontiers in medicine
Published: January 30, 2026
SVseq discloses the genomic complexity of different prenatal, de novo, apparently balanced chromosome rearrangements detected by CMA and karyotype.
Journal: Italian journal of pediatrics
Published: December 21, 2024
Detection of variants IKBKG exon4-10 del and c.1167dupC using a novel gene-specific gap-PCR and long accurate-PCR in two families with incontinentia pigmenti.
Journal: Indian journal of dermatology, venereology and leprology
Published: August 13, 2024
Nephrogenic diabetes insipidus results from a novel in-frame deletion of AVPR2 gene in monozygotic-twin boys and their mother and grandmother.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: July 01, 2024
Dual diagnosis of microcephalic osteosplastic primary dwarfism type II and benign familial infantile seizure type 2: a case report.
Journal: Clinical dysmorphology
Published: March 05, 2024
Mouse Tspyl5 promotes spermatogonia proliferation through enhancing Pcna-mediated DNA replication.
Journal: Reproduction, fertility, and development
Published: March 22, 2023
A novel splicing acceptor variant of the FBN2 gene contributes to a case of congenital contractural arachnodactyly
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: May 22, 2022
A novel missense variant c.71G > T (p.Gly24Val) of the CRYBA4 gene contributes to autosomal-dominant congenital cataract in a Chinese family.
Journal: International ophthalmology
Published: November 22, 2021
Identification of novel single-nucleotide variants altering RNA splicing of PKD1 and PKD2.
Journal: Journal of human genetics
Published: March 08, 2021
Is BRD7 associated with spermatogenesis impairment and male infertility in humans? A case-control study in a Han Chinese population.
Journal: Basic and clinical andrology
Published: February 02, 2021
CEP128 is involved in spermatogenesis in humans and mice.
Journal: Nature communications
Published: November 03, 2020
Last Updated: 09/26/2026