Jin-lan Chen

Changsha, China

Last Updated: 09/26/2026

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Found 9 publications

The prevalence of laterality defects in patients with congenital heart disease.

The prevalence of laterality defects in patients with congenital heart disease.

Journal: Journal of human genetics

Published: November 23, 2024

Clinical exome sequencing reveals a mutation in PDHA1 in Leigh syndrome: A case of a Chinese boy with lethal neuropathy.

Clinical exome sequencing reveals a mutation in PDHA1 in Leigh syndrome: A case of a Chinese boy with lethal neuropathy.

Journal: Molecular genetics & genomic medicine

Published: June 18, 2020

Duplication of 10q22.3-q23.3 encompassing BMPR1A and NGR3 associated with congenital heart disease, microcephaly, and mild intellectual disability.

Duplication of 10q22.3-q23.3 encompassing BMPR1A and NGR3 associated with congenital heart disease, microcephaly, and mild intellectual disability.

Journal: American journal of medical genetics. Part A

Published: November 23, 2014

A novel variant in TBX20 (p.D176N) identified by whole-exome sequencing in combination with a congenital heart disease related gene filter is associated with familial atrial septal defect.

A novel variant in TBX20 (p.D176N) identified by whole-exome sequencing in combination with a congenital heart disease related gene filter is associated with familial atrial septal defect.

Journal: Journal of Zhejiang University. Science. B

Published: September 04, 2014

Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death.

Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death.

Journal: Scientific reports

Published: April 17, 2014

Rare copy number variations containing genes involved in RASopathies: deletion of SHOC2 and duplication of PTPN11.

Rare copy number variations containing genes involved in RASopathies: deletion of SHOC2 and duplication of PTPN11.

Journal: Molecular cytogenetics

Published: January 24, 2014

Rare de novo copy number variants in patients with congenital pulmonary atresia.

Rare de novo copy number variants in patients with congenital pulmonary atresia.

Journal: PloS one

Published: October 26, 2013

A 1.1Mb deletion in distal 13q deletion syndrome region with congenital heart defect and postaxial polydactyly: additional support for a CHD locus at distal 13q34 region.

A 1.1Mb deletion in distal 13q deletion syndrome region with congenital heart defect and postaxial polydactyly: additional support for a CHD locus at distal 13q34 region.

Journal: Gene

Published: November 22, 2012

Microduplication of 3p25.2 encompassing RAF1 associated with congenital heart disease suggestive of Noonan syndrome.

Microduplication of 3p25.2 encompassing RAF1 associated with congenital heart disease suggestive of Noonan syndrome.

Journal: American journal of medical genetics. Part A

Published: February 29, 2012

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Last Updated: 09/26/2026