Department of Medical Genetics

653(top 1%)

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24.2K(top 1%)

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70(top 1%)

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133(top 1%)

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700

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27.0K

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3.7K

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Top Articles

#	Title	Journal	Year	Citations
1	Bayesian Inference of Recent Migration Rates Using Multilocus Genotypes	Genetics	2003	1,558
2	Epidermal Growth Factor Receptor Cell Proliferation Signaling Pathways	Cancers	2017	1,153
3	Bayes Estimation of Species Divergence Times and Ancestral Population Sizes Using DNA Sequences From Multiple Loci	Genetics	2003	946
4	Diagnosis and phenotypic classification of Wilson disease1	Liver International	2003	726
5	Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene	Nature Genetics	1999	556
6	Ltap, a mammalian homolog of Drosophila Strabismus/Van Gogh, is altered in the mouse neural tube mutant Loop-tail	Nature Genetics	2001	451
7	Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test	Genetics in Medicine	2018	404
8	The Bayesian revolution in genetics	Nature Reviews Genetics	2004	403
9	MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion	Nature Genetics	2006	380
10	Eteplirsen in the treatment of Duchenne muscular dystrophy	Drug Design, Development and Therapy	2017	334
11	Accommodating Phylogenetic Uncertainty in Evolutionary Studies	Science	2000	303
12	Mutations in COX15 Produce a Defect in the Mitochondrial Heme Biosynthetic Pathway, Causing Early-Onset Fatal Hypertrophic Cardiomyopathy	American Journal of Human Genetics	2003	296
13	A mouse model for Prader-Willi syndrome imprinting-centre mutations	Nature Genetics	1998	285
14	ErbB Receptors and Cancer	Methods in Molecular Biology	2017	283
15	Severe Expressive-Language Delay Related to Duplication of the Williams–Beuren Locus	New England Journal of Medicine	2005	269
16	Human microphthalmia associated with mutations in the retinal homeobox gene CHX10	Nature Genetics	2000	245
17	The Necdin Gene is Deleted in Prader-Willi Syndrome and is Imprinted in Human and Mouse	Human Molecular Genetics	1997	226
18	Microduplication and Triplication of 22q11.2: A Highly Variable Syndrome	American Journal of Human Genetics	2005	221
19	Human centromeric DNAs	Human Genetics	1997	217
20	The imprinted gene Magel2 regulates normal circadian output	Nature Genetics	2007	196
21	Disruption of the mouse necdin gene results in early post-natal lethality	Nature Genetics	1999	191
22	Condensed Chromatin Behaves like a Solid on the Mesoscale In Vitro and in Living Cells	Cell	2020	186
23	Identifiability of Parameters in MCMC Bayesian Inference of Phylogeny	Systematic Biology	2002	171
24	Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome	Human Molecular Genetics	2007	170
25	NSD1 mutations generate a genome-wide DNA methylation signature	Nature Communications	2015	170
26	Functional Characterization of Missense Mutations in ATP7B: Wilson Disease Mutation or Normal Variant?	American Journal of Human Genetics	1998	168
27	CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions	American Journal of Human Genetics	2017	166
28	Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy	Nature	2011	162
29	Genotype-Phenotype Correlations in Axenfeld-Rieger Malformation and Glaucoma Patients withFOXC1andPITX2Mutations	Nature	2007	157
30	The role of NPY in hypothalamic mediated food intake	Frontiers in Neuroendocrinology	2011	155
31	Regulation of autism-relevant behaviors by cerebellar–prefrontal cortical circuits	Nature Neuroscience	2020	149
32	Mutation History of the Roma/Gypsies	American Journal of Human Genetics	2004	148
33	Role of the Copper-binding Domain in the Copper Transport Function of ATP7B, the P-type ATPase Defective in Wilson Disease	Journal of Biological Chemistry	1999	146
34	Copper-dependent trafficking of Wilson disease mutant ATP7B proteins	Human Molecular Genetics	2000	145
35	Essential role for the Prader–Willi syndrome protein necdin in axonal outgrowth	Human Molecular Genetics	2005	141
36	Haplotype and Mutation Analysis in Japanese Patients with Wilson Disease	American Journal of Human Genetics	1997	134
37	A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort	Genetics in Medicine	2007	134
38	Involvement of mitochondrial ferredoxin and Cox15p in hydroxylation of heme O	FEBS Letters	2001	133
39	Epigenetic Modifications in Stress Response Genes Associated With Childhood Trauma	Frontiers in Psychiatry	2019	133
40	DMLE+: Bayesian linkage disequilibrium gene mapping	Bioinformatics	2002	129
41	Disruption of the neuronal PAS3 gene in a family affected with schizophrenia	Journal of Medical Genetics	2003	128
42	Severe hepatic Wilson's disease in preschool-aged children	Journal of Pediatrics	2000	126
43	Expression and imprinting of MAGEL2 suggest a role in Prader-Willi syndrome and the homologous murine imprinting phenotype	Human Molecular Genetics	2000	122
44	Mutation in the RIEG1 Gene in Patients with Iridogoniodysgenesis Syndrome	Human Molecular Genetics	1998	117
45	High-Resolution Multipoint Linkage-Disequilibrium Mapping in the Context of a Human Genome Sequence	American Journal of Human Genetics	2001	113
46	A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots	Cancer Research	2002	113
47	Analyses of the Effects That Disease-Causing Missense Mutations Have on the Structure and Function of the Winged-Helix Protein FOXC1	American Journal of Human Genetics	2001	110
48	Mechanisms Underlying the Action and Synergism of Trastuzumab and Pertuzumab in Targeting HER2-Positive Breast Cancer	Cancers	2018	109
49	Crystal Structure of Human SCO1	Journal of Biological Chemistry	2005	107
50	Copper transporting P-type ATPases and human disease	Journal of Bioenergetics and Biomembranes	2002	105

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