Feng Zhang

发表

A novel multiplex fluorescent competitive PCR for copy number variation detection.

N. Wu, Yu-xun Zhou, Kai Li, 2019, Genomics.

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

J. Lupski, S. Batish, C. Towne, 2010, Neurogenetics.

Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review

Zhihong Wu, P. Giampietro, G. Qiu, 2018, The Journal of international medical research.

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

J. Lupski, L. Potocki, J. K. Fraley, 2011, The Journal of pediatrics.

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

Tim T. Chen, Ankita Patel, J. Lupski, 2014, Epilepsia.

Mechanisms for human genomic rearrangements

J. Lupski, F. Zhang, W. Gu, 2008, PathoGenetics.

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

J. Lupski, S. Cheung, F. Scaglia, 2010, Genetics in Medicine.

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

J. Lupski, C. Carvalho, Feng Zhang, 2011, Systems biology in reproductive medicine.

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

J. Lupski, A. Connolly, S. Batish, 2009, Nature Genetics.

Genome Architecture and Its Roles in Human Copy Number Variation

Weichen Zhou, Ling Zhang, Feng Zhang, 2014, Genomics & informatics.

Copy number variation in human health, disease, and evolution.

M. Hurles, J. Lupski, F. Zhang, 2009, Annual review of genomics and human genetics.

Non-coding genetic variants in human disease.

J. Lupski, F. Zhang, Feng Zhang, 2015, Human molecular genetics.

Progress and perspective of TBX6 gene in congenital vertebral malformations

Zhihong Wu, P. Giampietro, G. Qiu, 2016, Oncotarget.

The copy number variation landscape of congenital anomalies of the kidney and urinary tract

Craig S. Wong, H. Hakonarson, A. Latos-Bieleńska, 2018, Nature Genetics.

Genomic disorders: A window into human gene and genome evolution

J. Lupski, C. Carvalho, Feng Zhang, 2010, Proceedings of the National Academy of Sciences.

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

J. Lupski, P. Liu, P. Hastings, 2011, American journal of human genetics.

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

Klaudia Walter, M. Hurles, P. Stankiewicz, 2017, Cell.

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

A. Breman, J. Lupski, Zhihong Wu, 2020, Kidney international.

Assessing structural variation in a personal genome—towards a human reference diploid genome

Caleb F. Davis, P. Stankiewicz, J. Lupski, 2015, BMC Genomics.

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

P. Stankiewicz, J. Lupski, R. Gibbs, 2010, The New England journal of medicine.

Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements

P. Stankiewicz, J. Wiszniewska, M. L. Cooper, 2011, Cell.

Complex human chromosomal and genomic rearrangements.

J. Lupski, F. Zhang, C. Carvalho, 2009, Trends in genetics : TIG.

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

J. Lupski, Zhihong Wu, Yiping Shen, 2019, Genetics in Medicine.

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease

J. Lupski, You-Qiang Song, Zhihong Wu, 2018, Human Genetics.

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

J. Lupski, V. Drory, J. Higgins, 2014, American journal of human genetics.

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

J. Lupski, C. Carvalho, Philip M Boone, 2011, Genetics in Medicine.

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

J. Lupski, F. Baas, P. Liu, 2010, American journal of human genetics.

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

J. Lupski, P. Liu, L. Potocki, 2010, American journal of human genetics.

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

P. Stankiewicz, Ankita Patel, C. Shaw, 2009, Human molecular genetics.

Increased LIS1 expression affects human and mouse brain development

K. Gunderson, J. Lupski, S. Cheung, 2009, Nature Genetics.

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

J. Lupski, Zhihong Wu, Shuyang Zhang, 2018, Human molecular genetics.

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

Yiping Shen, Li Jin, Weichen Zhou, 2013, Human molecular genetics.

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

J. Lupski, H. Zoghbi, C. Schaaf, 2009, Annals of neurology.

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

P. Stankiewicz, J. Lupski, R. Gibbs, 2010, New England Journal of Medicine.

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

J. Lupski, L. Vallée, J. Andrieux, 2008, American journal of medical genetics. Part A.

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease

J. Lupski, You-Qiang Song, Zhihong Wu, 2018, Human Genetics.

Protein C deficiency (a novel mutation: ala291Thr) with systemic lupus erythematosus leads to the deep vein thrombosis

K. Su, Lihong Yang, Weiwei Fang, 2018, Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.

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

Z. Ou, P. Stankiewicz, Ankita Patel, 2009, Journal of Medical Genetics.

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

J. Lupski, L. Potocki, M. Withers, 2010, American journal of human genetics.

Genomic disorders: A window into human gene and genome evolution

J. Lupski, C. Carvalho, Feng Zhang, 2010, Proceedings of the National Academy of Sciences.

Assessing structural variation in a personal genome—towards a human reference diploid genome

Caleb F. Davis, P. Stankiewicz, J. Lupski, 2015, BMC Genomics.