Juan Q. Geng

1678 Dongfang Road
Dongfang, China

Last Updated: 09/26/2026

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Found 11 publications

Integrated Genotyping Strategies for Uncovering Detailed Haplotype Structures and Characterization of DMD Duplications.

Integrated Genotyping Strategies for Uncovering Detailed Haplotype Structures and Characterization of DMD Duplications.

Journal: Clinical chemistry
Published: July 14, 2025

Prospective Investigation of Optical Genome Mapping for Prenatal Genetic Diagnosis.

Prospective Investigation of Optical Genome Mapping for Prenatal Genetic Diagnosis.

Journal: Clinical chemistry
Published: August 15, 2023

SORBS2 is a genetic factor contributing to cardiac malformation of 4q deletion syndrome patients.

SORBS2 is a genetic factor contributing to cardiac malformation of 4q deletion syndrome patients.

Journal: eLife
Published: February 12, 2021

A novel 1p33p32.2 deletion involving SCP2, ORC1, and DAB1 genes in a patient with craniofacial dysplasia, short stature, developmental delay, and leukoencephalopathy: A case report.

A novel 1p33p32.2 deletion involving SCP2, ORC1, and DAB1 genes in a patient with craniofacial dysplasia, short stature, developmental delay, and leukoencephalopathy: A case report.

Journal: Medicine
Published: November 07, 2020

Rare Copy Number Variations Might Not be Involved in the Molecular Pathogenesis of PA-IVS in an Unselected Chinese Cohort.

Rare Copy Number Variations Might Not be Involved in the Molecular Pathogenesis of PA-IVS in an Unselected Chinese Cohort.

Journal: Pediatric cardiology
Published: August 23, 2018

Clinical Application of Chromosome Microarray Analysis in Han Chinese Children with Neurodevelopmental Disorders.

Clinical Application of Chromosome Microarray Analysis in Han Chinese Children with Neurodevelopmental Disorders.

Journal: Neuroscience bulletin
Published: February 06, 2018

Analysis of misdiagnosis and surgical treatment of 16 cases in children with congenital preauricular fistula complicated with retroauricular infection

Analysis of misdiagnosis and surgical treatment of 16 cases in children with congenital preauricular fistula complicated with retroauricular infection

Journal: Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery
Published: December 20, 2016

Exome sequencing identifies a novel nonsense mutation of HOXD13 in a Chinese family with synpolydactyly.

Exome sequencing identifies a novel nonsense mutation of HOXD13 in a Chinese family with synpolydactyly.

Journal: Congenital anomalies
Published: March 14, 2016

A modified multiplex ligation-dependent probe amplification method for the detection of 22q11.2 copy number variations in patients with congenital heart disease.

A modified multiplex ligation-dependent probe amplification method for the detection of 22q11.2 copy number variations in patients with congenital heart disease.

Journal: BMC genomics
Published: December 10, 2014

Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield.

Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield.

Journal: BMC genomics
Published: August 05, 2014

Identification of one novel and nine recurrent mutations of the ATP7B gene in 11 children with Wilson disease.

Identification of one novel and nine recurrent mutations of the ATP7B gene in 11 children with Wilson disease.

Journal: World journal of pediatrics : WJP
Published: September 27, 2011
Showing 1-11 of 11

Last Updated: 09/26/2026