Department of Medical Genetics

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#	Title	Journal	Year	Citations
1	A microarray for microRNA profiling in mouse testis tissues	Reproduction	2007	167
2	Distinct transcriptional regulation and function of the human BACE2 and BACE1 genes	FASEB Journal	2005	123
3	Microarray profiling of microRNAs expressed in testis tissues of developing primates	Journal of Assisted Reproduction and Genetics	2009	93
4	Single nucleotide polymorphism C677T in the methylenete-trahydrofolate reductase gene might be a genetic risk factor for infertility for Chinese men with azoospermia or severe oligozoospermia	Asian Journal of Andrology	2007	80
5	Piwil2 Suppresses P53 by Inducing Phosphorylation of Signal Transducer and Activator of Transcription 3 in Tumor Cells	PLoS ONE	2012	70
6	Identification of piRNAs in Hela cells by massive parallel sequencing	BMB Reports	2010	65
7	Association between DNA variant sites in the apolipoprotein A5 gene and coronary heart disease in Chinese	Metabolism: Clinical and Experimental	2005	54
8	PFN1 mutations are rare in Han Chinese populations with amyotrophic lateral sclerosis	Neurobiology of Aging	2013	47
9	Hereditary features, treatment, and prognosis of the lipoprotein glomerulopathy in patients with the APOE Kyoto mutation	Kidney International	2014	41
10	PIWIL2 induces c-Myc expression by interacting with NME2 and regulates c-Myc-mediated tumor cell proliferation	Oncotarget	2014	41
11	Combined analysis of genome-wide-linked susceptibility loci to Kawasaki disease in Han Chinese	Human Genetics	2013	37
12	Mutation scanning of the COQ2 gene in ethnic Chinese patients with multiple-system atrophy	Neurobiology of Aging	2015	37
13	Possible association between Cys311Ser polymorphism of paraoxonase 2 gene and late-onset Alzheimer's disease in Chinese	Molecular Brain Research	2004	35
14	Mutation screening of the FKBP6 gene and its association study with spermatogenic impairment in idiopathic infertile men	Reproduction	2007	35
15	Genetic Variants of SNCA Are Associated with Susceptibility to Parkinson’s Disease but Not Amyotrophic Lateral Sclerosis or Multiple System Atrophy in a Chinese Population	PLoS ONE	2015	34
16	DAZ1/DAZ2 cluster deletion mediated by gr/gr recombination per se may not be sufficient for spermatogenesis impairment: a study of Chinese normozoospermic men	Asian Journal of Andrology	2006	32
17	CLOCK and BMAL1 stabilize and activate RHOA to promote F-actin formation in cancer cells	Experimental and Molecular Medicine	2018	32
18	The common variant N372H in BRCA2 gene may be associated with idiopathic male infertility with azoospermia or severe oligozoospermia	European Journal of Obstetrics, Gynecology and Reproductive Biology	2006	31
19	Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease	BMC Medical Genetics	2011	31
20	Reprogramming Transcription Factors Oct4 and Sox2 Induce a BRD-Dependent Immunosuppressive Transcriptome in GBM-Propagating Cells	Cancer Research	2021	31
21	Single-nucleotide Polymorphism rs2290692 in the 3′UTR of ITPKC Associated With Susceptibility to Kawasaki Disease in a Han Chinese Population	Pediatric Cardiology	2012	30
22	HILI Inhibits TGF-β Signaling by Interacting with Hsp90 and Promoting TβR Degradation	PLoS ONE	2012	30
23	SNCA variants rs2736990 and rs356220 as risk factors for Parkinson’s disease but not for amyotrophic lateral sclerosis and multiple system atrophy in a Chinese population	Neurobiology of Aging	2014	30
24	GAK rs1564282 and DGKQ rs11248060 increase the risk for Parkinson’s disease in a Chinese population	Journal of Clinical Neuroscience	2013	29
25	Chromosomal Abnormality and Y Chromosome Microdeletion in Chinese Patients with Azoospermia or Severe Oligozoo-spermia	Journal of Genetics and Genomics	2006	26
26	PKHD1 Gene Silencing May Cause Cell Abnormal Proliferation through Modulation of Intracellular Calcium in Autosomal Recessive Polycystic Kidney Disease	BMB Reports	2007	25
27	Novel P143L polymorphism of the LCAT gene is associated with dyslipidemia in Chinese patients who have coronary atherosclerotic heart disease	Biochemical and Biophysical Research Communications	2004	23
28	Mutation Screening and Association Study of the Neprilysin Gene in Sporadic Alzheimer's Disease in Chinese Persons	Journals of Gerontology - Series A Biological Sciences and Medical Sciences	2005	23
29	Single nucleotide polymorphisms of the gonadotrophin-regulated testicular helicase (GRTH) gene may be associated with the human spermatogenesis impairment	Human Reproduction	2006	23
30	A single nucleotide polymorphism in a miR-1302 binding site in CGA increases the risk of idiopathic male infertility	Fertility and Sterility	2011	23
31	Factors Affecting the Fetal Fraction in Noninvasive Prenatal Screening: A Review	Frontiers in Pediatrics	2022	23
32	The shorter zinc finger protein ZNF230 gene message is transcribed in fertile male testes and may be related to human spermatogenesis	Biochemical Journal	2001	22
33	The APOC3 SstI polymorphism is weakly associated with sporadic Alzheimer's disease in a Chinese population	Neuroscience Letters	2005	21
34	An association analysis of the rs1572931 polymorphism of the RAB7L1 gene in Parkinson's disease, amyotrophic lateral sclerosis and multiple system atrophy in China	European Journal of Neurology	2014	21
35	Novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease	Nephrology Dialysis Transplantation	2002	20
36	Common AZFc structure may possess the optimal spermatogenesis efficiency relative to the rearranged structures mediated by non-allele homologous recombination	Scientific Reports	2015	19
37	Genetic variants of ADAM17 are implicated in the pathological process of Kawasaki disease and secondary coronary artery lesions via the TGF-β/SMAD3 signaling pathway	European Journal of Pediatrics	2016	19
38	A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum	BMC Pediatrics	2016	19
39	Mutation Screening and Association Study of the TSSK4 Gene in Chinese Infertile Men With Impaired Spermatogenesis	Journal of Andrology	2008	18
40	Identification of Linkage Disequilibrium SNPs from a Kidney-Yang Deficiency Syndrome Pedigree	The American Journal of Chinese Medicine	2009	18
41	Molecular characterization of the TCP11 gene which is the human homologue of the mouse gene encoding the receptor of fertilization promoting peptide	Molecular Human Reproduction	2002	17
42	PIWIL1 destabilizes microtubule by suppressing phosphorylation at Ser16 and RLIM-mediated degradation of stathmin1	Oncotarget	2015	17
43	The shorter zinc finger protein ZNF230 gene message is transcribed in fertile male testes and may be related to human spermatogenesis	Biochemical Journal	2001	16
44	A novel deletion mutation of the EXT2 gene in a large Chinese pedigree with hereditary multiple exostosis	British Journal of Cancer	2001	16
45	A novel allele in the promoter of the hepatic lipase is associated with increased concentration of HDL-C and decreased promoter activity	Journal of Lipid Research	2002	16
46	Relationships among adiponectin gene polymorphisms, proteinuria and increased blood pressure in the context of placental diseases	Hypertension Research	2010	16
47	A significant effect of the TSPY1 copy number on spermatogenesis efficiency and the phenotypic expression of the gr/gr deletion	Human Molecular Genetics	2013	16
48	The Novel Apolipoprotein E Mutation ApoE Chengdu (c.518T＞C, p.L173P) in a Chinese Patient with Lipoprotein Glomerulopathy	Journal of Atherosclerosis and Thrombosis	2018	16
49	Molecular cloning and characterization of a mouse spermatogenesis-related ring finger gene znf230	Biochemical and Biophysical Research Communications	2003	15
50	The 1239G/C polymorphism in exon 5 ofBACE1 gene may be associated with sporadic Alzheimer's disease in Chinese Hans	American Journal of Medical Genetics Part A	2004	15

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