List of works - Lamei Yuan

A Disease-Causing FRMD7 Variant in a Chinese Family with Infantile Nystagmus

scientific article published on 08 January 2019

A Missense Variant p.Ala117Ser in the Transthyretin Gene of a Han Chinese Family with Familial Amyloid Polyneuropathy.

scientific article published on 31 July 2017

A homozygous MYO7A mutation associated to Usher syndrome and unilateral auditory neuropathy spectrum disorder

scientific article published on 21 July 2017

A homozygous parkin p.G284R mutation in a Chinese family with autosomal recessive juvenile parkinsonism

Advances in the molecular genetics of non-syndromic polydactyly

scientific article

Association of the AADAC gene and Tourette syndrome in a Han Chinese cohort

scientific article published on 15 December 2017

Association of the MTHFR rs1801131 and rs1801133 variants in sporadic Parkinson's disease patients.

scientific article published on 21 January 2016

COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I

article

Compound heterozygous GJB2 mutations associated to a consanguineous Han family with autosomal recessive non-syndromic hearing loss

scientific article published on 4 April 2016

Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1.

scientific article

EIF4G1 Ala502Val and Arg1205His variants in Chinese patients with Parkinson disease.

scientific article published on 2 April 2013

Exome Sequencing of a Pedigree Reveals S339L Mutation in the TLN2 Gene as a Cause of Fifth Finger Camptodactyly

scientific article

Genetic Analysis of FBXO2, FBXO6, FBXO12, and FBXO41 Variants in Han Chinese Patients with Sporadic Parkinson's Disease.

scientific article published on 24 March 2017

Genetic Analysis of LRRK1 and LRRK2 Variants in Essential Tremor Patients

scientific article published on 29 May 2018

Genetic analysis of FGF20 variants in Chinese Han patients with essential tremor

scientific article published on 31 March 2016

Genetic analysis of MC1R variants in Chinese Han patients with sporadic Parkinson's disease.

scientific article published on 25 November 2015

Genetic analysis of PITX3 variants in patients with essential tremor.

scientific article published on 4 May 2016

Genetic analysis of SNCA coding mutation in Chinese Han patients with Parkinson disease.

scientific article published on 5 August 2014

Genetic analysis of TREM2 variants in Chinese Han patients with sporadic Parkinson's disease.

scientific article published on 15 December 2015

Genetic analysis of the RAB39B gene in Chinese Han patients with Parkinson's disease.

scientific article

Genetic analysis of the S100B gene in Chinese patients with Parkinson disease

scientific article published on 25 September 2013

Genetic variants and animal models in SNCA and Parkinson disease.

scientific article published on 21 April 2014

Heterozygous RHO p.R135W missense mutation in a large Han-Chinese family with retinitis pigmentosa and different refractive errors

scientific article published on 12 July 2019

Identification of a GNE homozygous mutation in a Han-Chinese family with GNE myopathy

article

Identification of a Heterozygous Mutation in the Gene in a Hui-Chinese Family with Corneal Dystrophy

article

Identification of a Novel Keratin 9 Missense Mutation in a Chinese Family with Epidermolytic Palmoplantar Keratoderma

article

Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing

scientific article

Identification of a Novel Mutation in the ABCA4 Gene in a Chinese Family with Retinitis Pigmentosa Using Exome Sequencing.

scientific article published on 5 February 2018

Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita

scientific article published on June 2015

Identification of a Novel Mutation in the Titin Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy 2J.

scientific article

Identification of a Premature Termination Mutation in the Proline-Rich Transmembrane Protein 2 Gene in a Chinese Family with Febrile Seizures.

scientific article published on 15 December 2014

Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1.

scientific article published on 23 January 2017

Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing

scientific article published on 13 February 2014

Identification of a novel EVC variant in a Han-Chinese family with Ellis-van Creveld syndrome

scientific article published on 23 July 2019

Identification of a novel GJA3 mutation in congenital nuclear cataract.

scientific article published on March 2015

Identification of a novel PHEX mutation in a Chinese family with X-linked hypophosphatemic rickets using exome sequencing

scientific article published in January 2015

Identification of a novel collagen type IV alpha-4 (COL4A4) mutation in a Chinese family with autosomal dominant Alport syndrome using exome sequencing

scientific article published on August 2016

Identifying a c.5722_5723del mutation in a Han-Chinese family with breast cancer

article

Molecular genetics of congenital nuclear cataract.

scientific article published on 30 December 2013

Molecular genetics of the COL2A1-related disorders.

scientific article published on 2 March 2016

Molecular genetics of the POMT1-related muscular dystrophy-dystroglycanopathies

scientific article published on 12 September 2018

Novel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2.

scientific article published on February 2016

Novel and Recurring Disease-Causing NF1 Variants in Two Chinese Families with Neurofibromatosis Type 1

scientific article published on 25 July 2018

Novel and Recurring NOTCH3 Mutations in Two Chinese Patients with CADASIL

scientific article published on 18 June 2019

Systematic analysis of genetic variants in Han Chinese patients with sporadic Parkinson's disease.

scientific article published on 22 September 2016

Systematic analysis of genetic variants in patients with essential tremor

The identification of a transthyretin variant p.D38G in a Chinese family with early-onset leptomeningeal amyloidosis

article

List of works by Lamei Yuan

A Disease-Causing FRMD7 Variant in a Chinese Family with Infantile Nystagmus

A Missense Variant p.Ala117Ser in the Transthyretin Gene of a Han Chinese Family with Familial Amyloid Polyneuropathy.

A homozygous MYO7A mutation associated to Usher syndrome and unilateral auditory neuropathy spectrum disorder

A homozygous parkin p.G284R mutation in a Chinese family with autosomal recessive juvenile parkinsonism

Advances in the molecular genetics of non-syndromic polydactyly

Association of the AADAC gene and Tourette syndrome in a Han Chinese cohort

Association of the MTHFR rs1801131 and rs1801133 variants in sporadic Parkinson's disease patients.

COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I

Compound heterozygous GJB2 mutations associated to a consanguineous Han family with autosomal recessive non-syndromic hearing loss

Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1.

EIF4G1 Ala502Val and Arg1205His variants in Chinese patients with Parkinson disease.

Exome Sequencing of a Pedigree Reveals S339L Mutation in the TLN2 Gene as a Cause of Fifth Finger Camptodactyly

Genetic Analysis of FBXO2, FBXO6, FBXO12, and FBXO41 Variants in Han Chinese Patients with Sporadic Parkinson's Disease.

Genetic Analysis of LRRK1 and LRRK2 Variants in Essential Tremor Patients

Genetic analysis of FGF20 variants in Chinese Han patients with essential tremor

Genetic analysis of MC1R variants in Chinese Han patients with sporadic Parkinson's disease.

Genetic analysis of PITX3 variants in patients with essential tremor.

Genetic analysis of SNCA coding mutation in Chinese Han patients with Parkinson disease.

Genetic analysis of TREM2 variants in Chinese Han patients with sporadic Parkinson's disease.

Genetic analysis of the RAB39B gene in Chinese Han patients with Parkinson's disease.

Genetic analysis of the S100B gene in Chinese patients with Parkinson disease

Genetic variants and animal models in SNCA and Parkinson disease.

Heterozygous RHO p.R135W missense mutation in a large Han-Chinese family with retinitis pigmentosa and different refractive errors

Identification of a GNE homozygous mutation in a Han-Chinese family with GNE myopathy

Identification of a Heterozygous Mutation in the Gene in a Hui-Chinese Family with Corneal Dystrophy

Identification of a Novel Keratin 9 Missense Mutation in a Chinese Family with Epidermolytic Palmoplantar Keratoderma

Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing

Identification of a Novel Mutation in the ABCA4 Gene in a Chinese Family with Retinitis Pigmentosa Using Exome Sequencing.

Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita

Identification of a Novel Mutation in the Titin Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy 2J.

Identification of a Premature Termination Mutation in the Proline-Rich Transmembrane Protein 2 Gene in a Chinese Family with Febrile Seizures.

Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1.

Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing

Identification of a novel EVC variant in a Han-Chinese family with Ellis-van Creveld syndrome

Identification of a novel GJA3 mutation in congenital nuclear cataract.

Identification of a novel PHEX mutation in a Chinese family with X-linked hypophosphatemic rickets using exome sequencing

Identification of a novel collagen type IV alpha-4 (COL4A4) mutation in a Chinese family with autosomal dominant Alport syndrome using exome sequencing

Identifying a c.5722_5723del mutation in a Han-Chinese family with breast cancer

Molecular genetics of congenital nuclear cataract.

Molecular genetics of the COL2A1-related disorders.

Molecular genetics of the POMT1-related muscular dystrophy-dystroglycanopathies

Novel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2.

Novel and Recurring Disease-Causing NF1 Variants in Two Chinese Families with Neurofibromatosis Type 1

Novel and Recurring NOTCH3 Mutations in Two Chinese Patients with CADASIL

Systematic analysis of genetic variants in Han Chinese patients with sporadic Parkinson's disease.

Systematic analysis of genetic variants in patients with essential tremor

The identification of a transthyretin variant p.D38G in a Chinese family with early-onset leptomeningeal amyloidosis