Weisheng Chen

Graduate School Of Peking Union Medical College
Beijing, China

Last Updated: 09/26/2026

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Found 24 publications

Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS).

Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS).

Journal: Journal of medical genetics

Published: December 29, 2019

Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1.

Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1.

Journal: Molecular genetics & genomic medicine

Published: August 23, 2019

Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome.

Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome.

Journal: Kidney international

Published: August 22, 2019

Increased TBX6 gene dosages induce congenital cervical vertebral malformations in humans and mice.

Increased TBX6 gene dosages induce congenital cervical vertebral malformations in humans and mice.

Journal: Journal of medical genetics

Published: June 01, 2019

Exome sequencing reveals a novel variant in NFX1 causing intracranial aneurysm in a Chinese family.

Exome sequencing reveals a novel variant in NFX1 causing intracranial aneurysm in a Chinese family.

Journal: Journal of neurointerventional surgery

Published: March 11, 2019

TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease.

TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease.

Journal: Human mutation

Published: March 04, 2019

Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal: Journal of cellular and molecular medicine

Published: January 26, 2019

Fat Mass and Obesity-Associated (FTO) Gene Polymorphisms Are Associated with Risk of Intervertebral Disc Degeneration in Chinese Han Population: A Case Control Study.

Fat Mass and Obesity-Associated (FTO) Gene Polymorphisms Are Associated with Risk of Intervertebral Disc Degeneration in Chinese Han Population: A Case Control Study.

Journal: Medical science monitor : international medical journal of experimental and clinical research

Published: August 13, 2018

TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice.

TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice.

Journal: Human molecular genetics

Published: August 06, 2018

TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model.

TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 05, 2018

Genetic polymorphisms of PAX1 are functionally associated with different PUMC types of adolescent idiopathic scoliosis in a northern Chinese Han population.

Genetic polymorphisms of PAX1 are functionally associated with different PUMC types of adolescent idiopathic scoliosis in a northern Chinese Han population.

Journal: Gene

Published: May 23, 2018

Whole-exome sequencing reveals known and novel variants in a cohort of intracranial vertebral-basilar artery dissection (IVAD).

Whole-exome sequencing reveals known and novel variants in a cohort of intracranial vertebral-basilar artery dissection (IVAD).

Journal: Journal of human genetics

Published: April 13, 2018

Showing 1-12 of 24

Last Updated: 09/26/2026