List of works - Feng Zhang

A TBX5 3'UTR variant increases the risk of congenital heart disease in the Han Chinese population

scientific article published on 25 July 2017

A spatial analysis of genetic structure of human populations in China reveals distinct difference between maternal and paternal lineages

scientific article

Additional genomic duplications in AZFc underlie the b2/b3 deletion-associated risk of spermatogenic impairment in Han Chinese population

article

Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia

scientific article

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

scientific article published in February 2017

Assessing genome-wide copy number variation in the Han Chinese population

scientific article published on 13 July 2017

Assessing structural variation in a personal genome-towards a human reference diploid genome.

scientific article published on 11 April 2015

Association between HLA-DQA1 gene copy number polymorphisms and susceptibility to rheumatoid arthritis in Chinese Han population

scientific article published in April 2014

Association between copy number variations of HLA-DQA1 and ankylosing spondylitis in the Chinese Han population

scientific article published on 19 September 2013

Association of a TDRD1 variant with spermatogenic failure susceptibility in the Han Chinese

scientific article

Association of polymorphisms in four bilirubin metabolism genes with serum bilirubin in three Asian populations

scientific article

Author Correction: Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella

article

Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome

scientific article

Autism-like behaviours and germline transmission in transgenic monkeys overexpressing MeCP2.

scientific article published on 25 January 2016

Bi-allelic SHOC1 loss-of-function mutations cause meiotic arrest and non-obstructive azoospermia

scientific article published on 08 September 2020

Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella

scientific article published on 24 May 2017

Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice

scientific article published on 09 September 2019

Biallelic mutations of CFAP251 cause sperm flagellar defects and human male infertility

article

CEP128 is involved in spermatogenesis in humans and mice

scientific article published on 16 March 2022

CNV instability associated with DNA replication dynamics: evidence for replicative mechanisms in CNV mutagenesis

scientific article

CNVbase: Batch identification of novel and rare copy number variations based on multi-ethnic population data

scientific article published on 11 July 2017

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

scientific article

Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy

scientific article published on 21 August 2015

Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract

scientific article

Complex human chromosomal and genomic rearrangements

scientific article published on 25 June 2009

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

scientific article published on 26 March 2009

Copy Number Variation of HLA-DQA1 and APOBEC3A/3B Contribute to the Susceptibility of Systemic Sclerosis in the Chinese Han Population

scientific article published in April 2016

Copy number variants of ABCF1, IL17REL, and FCGR3A are associated with the risk of gout

scientific article published on 12 April 2017

Copy number variation in human health, disease, and evolution

scientific article

Correlation between frequency of non-allelic homologous recombination and homology properties: evidence from homology-mediated CNV mutations in the human genome

scientific article

DAZ duplications confer the predisposition of Y chromosome haplogroup K* to non-obstructive azoospermia in Han Chinese populations

scientific article published on 21 May 2013

Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants

scientific article published on September 2010

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

scientific article published on 07 May 2020

Disruption in ACTL7A causes acrosomal ultrastructural defects in human and mouse sperm as a novel male factor inducing early embryonic arrest

scientific article published on 28 August 2020

Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders

scientific article published on 14 March 2017

Efficient typing of copy number variations in a segmental duplication-mediated rearrangement hotspot using multiplex competitive amplification

scientific article published on 7 June 2012

Evaluation of copy number variation detection for a SNP array platform

scientific article

Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution

scientific article

Fifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up

scientific article

Follow‐up study of 25 Chinese children with PLA2G6‐associated neurodegeneration ⬇️

scientific article published on August 31, 2012

Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over

scientific article

GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease

scientific article

Generation of special autosomal dominant polycystic kidney disease iPSCs with the capability of functional kidney-like cell differentiation

scientific article published on 19 September 2017

Genetic evidence supports demic diffusion of Han culture

scientific article

Genetic structure of Hmong-Mien speaking populations in East Asia as revealed by mtDNA lineages

scientific article published on 17 November 2004

Genetic studies of human diversity in East Asia

scientific article published on June 2007

Genome-wide CNV analysis in mouse induced pluripotent stem cells reveals dosage effect of pluripotent factors on genome integrity

scientific article published on 28 January 2014

Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population

scientific article published on 8 January 2016

Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange

scientific article

Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients

article

High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile

scientific article

Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF

scientific article published on 12 February 2020

Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility

scientific article published on 02 May 2019

Identification of copy number variation hotspots in human populations

scientific article

Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS

scientific article

Increased LIS1 expression affects human and mouse brain development

scientific article

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

scientific article published on 30 December 2019

Increased genome instability in human DNA segments with self-chains: homology-induced structural variations via replicative mechanisms

scientific article published on 7 March 2013

Interaction between Y chromosome haplogroup O3* and 4-n-octylphenol exposure reduces the susceptibility to spermatogenic impairment in Han Chinese

scientific article published on 28 June 2017

Joint utilization of genetic analysis and semi-cloning technology reveals a digenic etiology of Müllerian anomalies

scientific article published on 18 October 2019

Loss of DRC1 function leads to multiple morphological abnormalities of the sperm flagella and male infertility in human and mouse

scientific article published on 01 October 2021

Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella

scientific article published in Nature Communications

MacroH2A1 associates with nuclear lamina and maintains chromatin architecture in mouse liver cells

scientific article

Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication

scientific article published on 13 February 2014

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability

scientific article

Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment

scientific article published on 6 July 2009

Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs

scientific article published on March 2013

NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy ⬇️

scientific article published on February 26, 2012

NIPA2 mutations are correlative with childhood absence epilepsy in the Han Chinese population

article

Non-coding genetic variants in human disease

scientific article

Noncoding rare variants of TBX6 in congenital anomalies of the kidney and urinary tract

scientific article published on 02 January 2019

Novel Androgen Receptor Gene Mutation in Patient With Complete Androgen Insensitivity Syndrome

article

Partial deletions are associated with an increased risk of complete deletion in AZFc: a new insight into the role of partial AZFc deletions in male infertility

scientific article published on 05 April 2007

Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive

scientific article

Progress and perspective of TBX6 gene in congenital vertebral malformations

scientific article published on 15 July 2016

Rapid evolution, genetic variations, and functional association of the human spermatogenesis-related gene NYD-SP12.

scientific article published on 30 July 2007

Rare mutations in the autophagy-regulating gene AMBRA1 contribute to human neural tube defects

scientific article published on 25 April 2020

Rearrangement structure-independent strategy of CNV breakpoint analysis

scientific article published on 16 April 2014

Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki-Lupski duplication syndrome

scientific article published on 16 November 2012

SIX2 haploinsufficiency causes conductive hearing loss with ptosis in humans

scientific article

Screening of Duchenne muscular dystrophy (DMD) mutations and investigating its mutational mechanism in Chinese patients

scientific article

Single-nucleotide polymorphisms and haplotypes of non-coding area in the CP gene are correlated with Parkinson's disease

scientific article

Structural variation of the human genome: mechanisms, assays, and role in male infertility

scientific article

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

scientific article published on 26 September 2019

TBX6 null variants and a common hypomorphic allele in congenital scoliosis

scientific article

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

scientific article published on 21 June 2009

The association of Y chromosome haplogroups with spermatogenic failure in the Han Chinese

article

The b2/b3 subdeletion shows higher risk of spermatogenic failure and higher frequency of complete AZFc deletion than the gr/gr subdeletion in a Chinese population

scientific article

The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients

The nuclear matrix protein HNRNPU maintains 3D genome architecture globally in mouse hepatocytes

scientific article published on 22 December 2017

Two novel copy number variations involving the α-globin gene cluster on chromosome 16 cause thalassemia in two Chinese families

scientific article published on 21 March 2016

Whole-exome sequencing reveals SALL4 variants in premature ovarian insufficiency: an update on genotype-phenotype correlations

scientific article published on 02 January 2019

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

scientific article

X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3

scientific article

Y chromosome evidence of earliest modern human settlement in East Asia and multiple origins of Tibetan and Japanese populations

scientific article

Zinc-finger-nucleases mediate specific and efficient excision of HIV-1 proviral DNA from infected and latently infected human T cells

scientific article published on 26 June 2013

List of works by Feng Zhang

A TBX5 3'UTR variant increases the risk of congenital heart disease in the Han Chinese population

A spatial analysis of genetic structure of human populations in China reveals distinct difference between maternal and paternal lineages

Additional genomic duplications in AZFc underlie the b2/b3 deletion-associated risk of spermatogenic impairment in Han Chinese population

Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

Assessing genome-wide copy number variation in the Han Chinese population

Assessing structural variation in a personal genome-towards a human reference diploid genome.

Association between HLA-DQA1 gene copy number polymorphisms and susceptibility to rheumatoid arthritis in Chinese Han population

Association between copy number variations of HLA-DQA1 and ankylosing spondylitis in the Chinese Han population

Association of a TDRD1 variant with spermatogenic failure susceptibility in the Han Chinese

Association of polymorphisms in four bilirubin metabolism genes with serum bilirubin in three Asian populations

Author Correction: Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella

Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome

Autism-like behaviours and germline transmission in transgenic monkeys overexpressing MeCP2.

Bi-allelic SHOC1 loss-of-function mutations cause meiotic arrest and non-obstructive azoospermia

Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella

Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice

Biallelic mutations of CFAP251 cause sperm flagellar defects and human male infertility

CEP128 is involved in spermatogenesis in humans and mice

CNV instability associated with DNA replication dynamics: evidence for replicative mechanisms in CNV mutagenesis

CNVbase: Batch identification of novel and rare copy number variations based on multi-ethnic population data

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy

Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract

Complex human chromosomal and genomic rearrangements

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

Copy Number Variation of HLA-DQA1 and APOBEC3A/3B Contribute to the Susceptibility of Systemic Sclerosis in the Chinese Han Population

Copy number variants of ABCF1, IL17REL, and FCGR3A are associated with the risk of gout

Copy number variation in human health, disease, and evolution

Correlation between frequency of non-allelic homologous recombination and homology properties: evidence from homology-mediated CNV mutations in the human genome

DAZ duplications confer the predisposition of Y chromosome haplogroup K* to non-obstructive azoospermia in Han Chinese populations

Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants

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

Disruption in ACTL7A causes acrosomal ultrastructural defects in human and mouse sperm as a novel male factor inducing early embryonic arrest

Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders

Efficient typing of copy number variations in a segmental duplication-mediated rearrangement hotspot using multiplex competitive amplification

Evaluation of copy number variation detection for a SNP array platform

Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution

Fifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up

Follow‐up study of 25 Chinese children with PLA2G6‐associated neurodegeneration ⬇️

Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over

GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease

Generation of special autosomal dominant polycystic kidney disease iPSCs with the capability of functional kidney-like cell differentiation

Genetic evidence supports demic diffusion of Han culture

Genetic structure of Hmong-Mien speaking populations in East Asia as revealed by mtDNA lineages

Genetic studies of human diversity in East Asia

Genome-wide CNV analysis in mouse induced pluripotent stem cells reveals dosage effect of pluripotent factors on genome integrity

Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population

Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange

Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients

High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile

Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF

Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility

Identification of copy number variation hotspots in human populations

Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS

Increased LIS1 expression affects human and mouse brain development

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

Increased genome instability in human DNA segments with self-chains: homology-induced structural variations via replicative mechanisms

Interaction between Y chromosome haplogroup O3* and 4-n-octylphenol exposure reduces the susceptibility to spermatogenic impairment in Han Chinese

Joint utilization of genetic analysis and semi-cloning technology reveals a digenic etiology of Müllerian anomalies

Loss of DRC1 function leads to multiple morphological abnormalities of the sperm flagella and male infertility in human and mouse

Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella

MacroH2A1 associates with nuclear lamina and maintains chromatin architecture in mouse liver cells

Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability

Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment

Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs

NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy ⬇️

NIPA2 mutations are correlative with childhood absence epilepsy in the Han Chinese population

Non-coding genetic variants in human disease

Noncoding rare variants of TBX6 in congenital anomalies of the kidney and urinary tract

Novel Androgen Receptor Gene Mutation in Patient With Complete Androgen Insensitivity Syndrome

Partial deletions are associated with an increased risk of complete deletion in AZFc: a new insight into the role of partial AZFc deletions in male infertility

Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive

Progress and perspective of TBX6 gene in congenital vertebral malformations

Rapid evolution, genetic variations, and functional association of the human spermatogenesis-related gene NYD-SP12.

Rare mutations in the autophagy-regulating gene AMBRA1 contribute to human neural tube defects

Rearrangement structure-independent strategy of CNV breakpoint analysis

Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki-Lupski duplication syndrome