HistCite - Initial sequencing and analysis of the human genome (Lander)

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#	Date / Author / Journal	LCS	GCS	LCR	CR
3501	6373 Chulada PC, Vahdat HL, Sharp RR, DeLozier TC, Watkins PB, et al. The environmental polymorphisms registry: A DNA resource to study genetic susceptibility loci HUMAN GENETICS. 2008 MAR; 123 (2): 207-214	0	0	6	34
3502	6928 Zhang W, Duan SW, Bleibel WK, Wisel SA, Huang RS, et al. Identification of common genetic variants that account for transcript isoform variation between human populations HUMAN GENETICS. 2009 FEB; 125 (1): 81-93	0	4	8	59
3503	7050 Tariq M, Khan MN, Ahmad W Ectodermal dysplasia-cutaneous syndactyly syndrome maps to chromosome 7p21.1-p14.3 HUMAN GENETICS. 2009 MAY; 125 (4): 421-429	0	0	2	35
3504	7128 Vandeweyer G, Kooy RF Balanced translocations in mental retardation HUMAN GENETICS. 2009 JUL; 126 (1): 133-147	0	1	1	139
3505	810 Rybicki BA, Iyengar SK, Harris T, Liptak R, Elston RC, et al. The distribution of long range admixture linkage disequilibrium in an African-American population HUMAN HEREDITY. 2002; 53 (4): 187-196	1	11	2	43
3506	811 DeWan AT, Parrado AR, Matise TC, Leal SM Map error reduction: Using genetic and sequence-based physical maps to order closely linked markers HUMAN HEREDITY. 2002; 54 (1): 34-44	0	4	9	21
3507	1984 Ansar M, Ramzan M, Pham TL, Yan K, Jamal SM, et al. Localization of a novel autosomal recessive non-syndromic hearing impairment locus (DFNB38) to 6q26-q27 in a consanguineous kindred from Pakistan HUMAN HEREDITY. 2003; 55 (1): 71-74	0	5	2	14
3508	3062 Ansar M, Chahrour MH, Din MAU, Arshad M, Haque S, et al. DFNB44, a novel autosomal recessive non-syndromic hearing impairment locus, maps to chromosome 7p14.1-q11.22 HUMAN HEREDITY. 2004; 57 (4): 195-199	0	2	3	16
3509	4846 Witherspoon DJ, Marchani EE, Watkins WS, Ostler CT, Wooding SP, et al. Human population genetic structure and diversity inferred from polymorphic L1 (LINE-1) and Alu insertions HUMAN HEREDITY. 2006; 62 (1): 30-46	4	14	21	92
3510	6225 Guan WH, Pluzhnikov A, Cox NJ, Boehnke M, Int Type 2 Diabet Linkage Anal Con Meta-analysis of 23 type 2 diabetes linkage studies from the international type 2 diabetes linkage analysis consortium HUMAN HEREDITY. 2008; 66 (1): 35-U1	0	6	3	56
#	Date / Author / Journal	LCS	GCS	LCR	CR
3511	203 Sakai K, Shirasawa S, Ishikawa N, Ito K, Tamai H, et al. Identification of susceptibility loci for autoimmune thyroid disease to 5q31-q133 and Hashimoto's thyroiditis to 8q23-q24 by multipoint affected sib-pair linkage analysis in Japanese HUMAN MOLECULAR GENETICS. 2001 JUN 15; 10 (13): 1379-1386	2	90	1	41
3512	403 Sutherland HGE, Mumford GK, Newton K, Ford LV, Farrall R, et al. Large-scale identification of mammalian proteins localized to nuclear sub-compartments HUMAN MOLECULAR GENETICS. 2001 SEP 1; 10 (18): 1995-2011	7	57	1	56
3513	494 Miller RD, Kwok PY The birth and death of human single-nucleotide polymorphisms: new experimental evidence and implications for human history and medicine HUMAN MOLECULAR GENETICS. 2001 OCT 1; 10 (20): 2195-2198	4	22	2	32
3514	495 Goodstadt L, Ponting CR Sequence variation and disease in the wake of the draft human genome HUMAN MOLECULAR GENETICS. 2001 OCT 1; 10 (20): 2209-2214	6	19	3	24
3515	496 Horvath JE, Bailey JA, Locke DP, Eichler EE Lessons from the human genome: transitions between euchromatin and heterochromatin HUMAN MOLECULAR GENETICS. 2001 OCT 1; 10 (20): 2215-2223	23	64	6	90
3516	502 Miller MP, Kumar S Understanding human disease mutations through the use of interspecific genetic variation HUMAN MOLECULAR GENETICS. 2001 OCT 2; 10 (21): 2319-2328	5	115	2	39
3517	594 Kondrashov FA, Koonin EV Origin of alternative splicing by tandem exon duplication HUMAN MOLECULAR GENETICS. 2001 NOV 1; 10 (23): 2661-2669	15	67	1	53
3518	610 Eisenbarth I, Striebel AM, Moschgath E, Vogel W, Assum G Long-range sequence composition mirrors linkage disequilibrium pattern in a 1.13 Mb region of human chromosome 22 HUMAN MOLECULAR GENETICS. 2001 NOV 15; 10 (24): 2833-2839	8	23	4	28
3519	1037 Tiret L, Poirier O, Nicaud V, Barbaux S, Herrmann SM, et al. Heterogeneity of linkage disequilibrium in human genes has implications for association studies of common diseases HUMAN MOLECULAR GENETICS. 2002 FEB 15; 11 (4): 419-429	0	47	3	50
3520	1038 Clark F, Thanaraj TA Categorization and characterization of transcript-confirmed constitutively and alternatively spliced introns and exons from human HUMAN MOLECULAR GENETICS. 2002 FEB 15; 11 (4): 451-464	25	104	2	49
#	Date / Author / Journal	LCS	GCS	LCR	CR
3521	1177 Thaung C, West K, Clark BJ, McKie L, Morgan JE, et al. Novel ENU-induced eye mutations in the mouse: models for human eye disease HUMAN MOLECULAR GENETICS. 2002 APR 1; 11 (7): 755-767	0	50	5	63
3522	1391 Schulze TG, Chen YS, Akula N, Hennessy K, Badner JA, et al. Can long-range microsatellite data be used to predict short-range linkage disequilibrium? HUMAN MOLECULAR GENETICS. 2002 JUN 1; 11 (12): 1363-1372	2	17	4	51
3523	1408 Cavaille J, Seitz H, Paulsen M, Ferguson-Smith AC, Bachellerie JP Identification of tandemly-repeated C/D snoRNA genes at the imprinted human 14q32 domain reminiscent of those at the Prader-Willi/Angelman syndrome region HUMAN MOLECULAR GENETICS. 2002 JUN 15; 11 (13): 1527-1538	5	76	1	57
3524	1409 Letunic I, Copley RR, Bork P Common exon duplication in animals and its role in alternative splicing HUMAN MOLECULAR GENETICS. 2002 JUN 15; 11 (13): 1561-1567	14	60	2	21
3525	1557 Coleman SL, Buckland PR, Hoogendoorn B, Guy C, Smith K, et al. Experimental analysis of the annotation of promoters in the public database HUMAN MOLECULAR GENETICS. 2002 AUG 1; 11 (16): 1817-1821	2	20	3	14
3526	1651 Wang PJ, Page DC Functional substitution for TAF(II)250 by a retroposed homolog that is expressed in human spermatogenesis HUMAN MOLECULAR GENETICS. 2002 SEP 15; 11 (19): 2341-2346	5	36	2	32
3527	1698 Stamm S Signals and their transduction pathways regulating alternative splicing: a new dimension of the human genome HUMAN MOLECULAR GENETICS. 2002 OCT 1; 11 (20): 2409-2416	16	109	10	101
3528	1874 Fisher RA, Hodges MD, Rees HC, Sebire NJ, Seckl MJ, et al. The maternally transcribed gene p57(KIP2) (CDNK1C) is abnormally expressed in both androgenetic and biparental complete hydatidiform moles HUMAN MOLECULAR GENETICS. 2002 DEC 15; 11 (26): 3267-3272	3	38	1	38
3529	2187 Duan JB, Wainwright MS, Comeron JM, Saitou N, Sanders AR, et al. Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor HUMAN MOLECULAR GENETICS. 2003 FEB 1; 12 (3): 205-216	13	240	2	59
3530	2343 Emes RD, Goodstadt L, Winter EE, Ponting CP Comparison of the genomes of human and mouse lays the foundation of genome zoology HUMAN MOLECULAR GENETICS. 2003 APR 1; 12 (7): 701-709	18	59	8	119
#	Date / Author / Journal	LCS	GCS	LCR	CR
3531	2424 Furey TS, Haussler D Integration of the cytogenetic map with the draft human genome sequence HUMAN MOLECULAR GENETICS. 2003 MAY 1; 12 (9): 1037-1044	13	35	4	46
3532	2509 Gong ML, Zhang HY, Schulz H, Lee YA, Sun K, et al. Genome-wide linkage reveals a locus for human essential (primary) hypertension on chromosome 12p HUMAN MOLECULAR GENETICS. 2003 JUN 1; 12 (11): 1273-1277	0	31	2	39
3533	2510 Semenova E, Wang XF, Jablonski MM, Levorse J, Tilghman SM An engineered 800 kilobase deletion of Uchl3 and Lmo7 on mouse chromosome 14 causes defects in viability, postnatal growth and degeneration of muscle and retina HUMAN MOLECULAR GENETICS. 2003 JUN 1; 12 (11): 1301-1312	0	21	6	51
3534	2511 Nurtdinov RN, Artamonova II, Mironov AA, Gelfand MS Low conservation of alternative splicing patterns in the human and mouse genomes HUMAN MOLECULAR GENETICS. 2003 JUN 1; 12 (11): 1313-1320	26	90	10	76
3535	2512 Ejima Y, Yang LC Trans mobilization of genomic DNA as a mechanism for retrotransposon-mediated exon shuffling HUMAN MOLECULAR GENETICS. 2003 JUN 1; 12 (11): 1321-1328	16	25	7	37
3536	2667 Spiteri E, Babcock M, Kashork CD, Wakui K, Gogineni S, et al. Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes HUMAN MOLECULAR GENETICS. 2003 AUG 1; 12 (15): 1823-1837	4	34	3	84
3537	2747 Armengol L, Pujana MA, Cheung J, Scherer SW, Estivill X Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements HUMAN MOLECULAR GENETICS. 2003 SEP 1; 12 (17): 2201-2208	24	81	10	28
3538	2757 Hoogendoorn B, Coleman SL, Guy CA, Smith K, Bowen T, et al. Functional analysis of human promoter polymorphisms HUMAN MOLECULAR GENETICS. 2003 SEP 15; 12 (18): 2249-2254	7	87	5	28
3539	2808 Lercher MJ, Urrutia AO, Pavlicek A, Hurst LD A unification of mosaic structures in the human genome HUMAN MOLECULAR GENETICS. 2003 OCT 1; 12 (19): 2411-2415	19	56	5	30
3540	2823 McGregor E, Dunn MJ Proteomics of heart disease HUMAN MOLECULAR GENETICS. 2003 OCT 15; 12: R135-R144	3	35	5	104
#	Date / Author / Journal	LCS	GCS	LCR	CR
3541	2888 Lavoie H, Debeane F, Trinh QD, Turcotte JF, Corbeil-Girard LP, et al. Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains HUMAN MOLECULAR GENETICS. 2003 NOV 15; 12 (22): 2967-2979	1	52	3	95
3542	2961 Sunyaev S, Kondrashov FA, Bork P, Ramensky V Impact of selection, mutation rate and genetic drift on human genetic variation HUMAN MOLECULAR GENETICS. 2003 DEC 15; 12 (24): 3325-3330	2	10	6	48
3543	3210 W, oodfine K, Fiegler H, Beare DM, Collins JE, et al. Replication timing of the human genome HUMAN MOLECULAR GENETICS. 2004 JAN 15; 13 (2): 191-202	0	107	5	29
3544	3284 Slaugenhaupt SA, Mull J, Leyne M, Cuajungco MP, Gill SP, et al. Rescue of a human mRNA splicing defect by the plant cytokinin kinetin HUMAN MOLECULAR GENETICS. 2004 FEB 15; 13 (4): 429-436	0	41	3	37
3545	3342 Stoilov P, Daoud R, Nayler O, Stamm S Human tra2-beta1 autoregulates its protein concentration by influencing alternative splicing of its pre-mRNA HUMAN MOLECULAR GENETICS. 2004 MAR 1; 13 (5): 509-524	7	52	9	73
3546	3495 Wang QL, Chen SM, Esumi N, Swain PK, Haines HS, et al. QRX, a novel homeobox gene, modulates photoreceptor gene expression HUMAN MOLECULAR GENETICS. 2004 MAY 15; 13 (10): 1025-1040	0	22	3	73
3547	3496 Goodier JL, Ostertag EM, Engleka KA, Seleme MC, Kazazian HH A potential role for the nucleolus in L1 retrotransposition HUMAN MOLECULAR GENETICS. 2004 MAY 15; 13 (10): 1041-1048	18	25	9	52
3548	3709 Zhang JZ, Webb DM Rapid evolution of primate antiviral enzyme APOBEC3G HUMAN MOLECULAR GENETICS. 2004 AUG 15; 13 (16): 1785-1791	7	49	4	50
3549	4162 Chueh AC, Wong LH, Wong N, Choo KHA Variable and hierarchical size distribution of L1-retroelement-enriched CENP-A clusters within a functional human neocentromere HUMAN MOLECULAR GENETICS. 2005 JAN 1; 14 (1): 85-93	1	21	3	39
3550	4227 Semon M, Mouchiroud D, Duret L Relationship between gene expression and GC-content in mammals: statistical significance and biological relevance HUMAN MOLECULAR GENETICS. 2005 FEB 1; 14 (3): 421-427	7	20	9	28
#	Date / Author / Journal	LCS	GCS	LCR	CR
3551	4347 Alfano G, Vitiello C, Caccioppoli C, Caramico T, Carola A, et al. Natural antisense transcripts associated with genes involved in eye development HUMAN MOLECULAR GENETICS. 2005 APR 1; 14 (7): 913-923	3	33	6	39
3552	4447 Kol G, Lev-Maor G, Ast G Human-mouse comparative analysis reveals that branch-site plasticity contributes to splicing regulation HUMAN MOLECULAR GENETICS. 2005 JUN 1; 14 (11): 1559-1568	3	36	9	37
3553	4549 Sandovici I, Kassovska-Bratinova S, Loredo-Osti JC, Leppert M, Suarez A, et al. Interindividual variability and parent of origin DNA methylation differences at specific human Alu elements HUMAN MOLECULAR GENETICS. 2005 AUG 1; 14 (15): 2135-2143	5	28	5	33
3554	4550 Kryukov GV, Schmidt S, Sunyaev S Small fitness effect of mutations in highly conserved non-coding regions HUMAN MOLECULAR GENETICS. 2005 AUG 1; 14 (15): 2221-2229	4	30	10	41
3555	4713 Kulpa DA, Moran JV Ribonucleoprotein particle formation is necessary but not sufficient for LINE-1 retrotransposition HUMAN MOLECULAR GENETICS. 2005 NOV 1; 14 (21): 3237-3248	15	28	11	46
3556	5053 Abou-Sleymane G, Chalmel F, Helmlinger D, Lardenois A, Thibault C, et al. Polyglutamine expansion causes neurodegeneration by altering the neuronal differentiation program HUMAN MOLECULAR GENETICS. 2006 MAR 1; 15 (5): 691-703	2	12	1	60
3557	5120 Gorlov IP, Kimmel M, Amos CI Strength of the purifying selection against different categories of the point mutations in the coding regions of the human genome HUMAN MOLECULAR GENETICS. 2006 APR 1; 15 (7): 1143-1150	0	3	5	53
3558	5121 Newman TL, Rieder MJ, Morrison VA, Sharp AJ, Smith JD, et al. High-throughput genotyping of intermediate-size structural variation HUMAN MOLECULAR GENETICS. 2006 APR 1; 15 (7): 1159-1167	2	21	5	32
3559	5126 Pastinen T, Ge B, Hudson TJ Influence of human genome polymorphism on gene expression HUMAN MOLECULAR GENETICS. 2006 APR 15; 15: R9-R16	1	36	5	40
3560	5127 Temple G, Lamesch P, Milstein S, Hill DE, Wagner L, et al. From genome to proteome: developing expression clone resources for the human genome HUMAN MOLECULAR GENETICS. 2006 APR 15; 15: R31-R43	2	14	22	89
#	Date / Author / Journal	LCS	GCS	LCR	CR
3561	5128 Feuk L, Marshall CR, Wintle RF, Scherer SW Structural variants: changing the landscape of chromosomes and design of disease studies HUMAN MOLECULAR GENETICS. 2006 APR 15; 15: R57-R66	10	66	15	127
3562	5129 Reeves GA, Thornton JM, BioSapiens Network Excellence Integrating biological data through the genome HUMAN MOLECULAR GENETICS. 2006 APR 15; 15: R81-R87	0	9	2	48
3563	5130 Callinan PA, Feinberg AP The emerging science of epigenomics HUMAN MOLECULAR GENETICS. 2006 APR 15; 15: R95-R101	4	51	5	51
3564	5304 Chen JC, Rattner A, Nathans J Effects of L1 retrotransposon insertion on transcript processing, localization and accumulation: lessons from the retinal degeneration 7 mouse and implications for the genomic ecology of L1 elements HUMAN MOLECULAR GENETICS. 2006 JUL 1; 15 (13): 2146-2156	6	15	8	42
3565	5389 Shen Y, Chow J, Wang ZD, Fan GP Abnormal CpG island methylation occurs during in vitro differentiation of human embryonic stem cells HUMAN MOLECULAR GENETICS. 2006 SEP 1; 15 (17): 2623-2635	0	15	3	41
3566	5830 Clark SJ Action at a distance: epigenetic silencing of large chromosomal regions in carcinogenesis HUMAN MOLECULAR GENETICS. 2007 APR 15; 16: R88-R95	0	14	9	107
3567	5963 Garcia-Perez JL, Marchetto MCN, Muotri AR, Coufal NG, Gage FH, et al. LINE-1 retrotransposition in human embryonic stem cells HUMAN MOLECULAR GENETICS. 2007 JUL 1; 16 (13): 1569-1577	7	13	16	45
3568	6106 Muotri AR, Marchetto MCN, Coufal NG, Gage FH The necessary junk: new functions for transposable elements HUMAN MOLECULAR GENETICS. 2007 OCT 15; 16: R159-R167	6	18	43	77
3569	6107 Pinto D, Marshall C, Feuk L, Scherer SW Copy-number variation in control population cohorts HUMAN MOLECULAR GENETICS. 2007 OCT 15; 16: R168-R173	1	47	7	37
3570	6108 Swaroop A, Branham KEH, Chen W, Abecasis G Genetic susceptibility to age-related macular degeneration: a paradigm for dissecting complex disease traits HUMAN MOLECULAR GENETICS. 2007 OCT 15; 16: R174-R182	0	32	4	129
#	Date / Author / Journal	LCS	GCS	LCR	CR
3571	6121 Demura M, Martin RM, Shozu M, Sebastian S, Takayama K, et al. Regional rearrangements in chromosome 15q21 cause formation of cryptic promoters for the CYP19 (aromatase) gene HUMAN MOLECULAR GENETICS. 2007 NOV; 16 (21): 2529-2541	0	5	5	38
3572	6122 Babcock M, Yatsenko S, Hopkins J, Brenton M, Cao Q, et al. Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndrome HUMAN MOLECULAR GENETICS. 2007 NOV; 16 (21): 2560-2571	0	7	11	41
3573	6142 Sharp AJ, Itsara A, Cheng Z, Alkan C, Schwartz S, et al. Optimal design of oligonucleotide microarrays for measurement of DNA copy-number HUMAN MOLECULAR GENETICS. 2007 NOV 15; 16 (22): 2770-2779	0	6	4	31
3574	6302 Novoyatleva T, Heinrich B, Tang Y, Benderska N, Butchbach MER, et al. Protein phosphatase 1 binds to the RNA recognition motif of several splicing factors and regulates alternative pre-mRNA processing HUMAN MOLECULAR GENETICS. 2008 JAN 1; 17 (1): 52-70	2	12	11	90
3575	6488 Palles C, Johnson N, Coupland B, Taylor C, Carvajal J, et al. Identification of genetic variants that influence circulating IGF1 levels: a targeted search strategy HUMAN MOLECULAR GENETICS. 2008 MAY 15; 17 (10): 1457-1464	1	6	2	42
3576	7022 Landsverk ML, Ruzzo EK, Mefford HC, Buysse K, Buchan JG, et al. Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy HUMAN MOLECULAR GENETICS. 2009 APR 1; 18 (7): 1200-1208	0	0	2	37
3577	7023 Georgiou I, Noutsopoulos D, Dimitriadou E, Markopoulos G, Apergi A, et al. Retrotransposon RNA expression and evidence for retrotransposition events in human oocytes HUMAN MOLECULAR GENETICS. 2009 APR 1; 18 (7): 1221-1228	1	2	18	53
3578	7109 Lin L, Jiang P, Shen SH, Sato S, Davidson BL, et al. Large-scale analysis of exonized mammalian-wide interspersed repeats in primate genomes HUMAN MOLECULAR GENETICS. 2009 JUN 15; 18 (12): 2204-2214	0	1	23	57
3579	7264 Hon GC, Hawkins RD, Ren B Predictive chromatin signatures in the mammalian genome HUMAN MOLECULAR GENETICS. 2009 OCT 15; 18: R195-R201	0	0	4	49
3580	33 Gut IG Automation in genotyping of single nucleotide polymorphisms HUMAN MUTATION. 2001; 17 (6): 475-492	9	108	2	82
#	Date / Author / Journal	LCS	GCS	LCR	CR
3581	34 Rannala B, Bertorelle G Using linked markers to infer the age of a mutation HUMAN MUTATION. 2001; 18 (2): 87-100	1	22	2	55
3582	812 Hardison RC, Chui DHK, Giardine B, Riemer C, Patrinos GP, et al. HbVar. A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server HUMAN MUTATION. 2002; 19 (3): 225-233	2	147	2	30
3583	813 Amos J, Patnaik M Commercial molecular diagnostics in the US: The human genome project to the clinical laboratory HUMAN MUTATION. 2002; 19 (4): 324-333	2	16	1	26
3584	814 Kutsche K, Ressler B, Katzera H, Orth U, Gillessen-Kaesbach G, et al. Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genes HUMAN MUTATION. 2002; 19 (5): 526-535	4	18	2	31
3585	815 Carbone MA, Applegarth DA, Robinson BH Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings HUMAN MUTATION. 2002; 20 (1): 48-56	0	9	1	25
3586	816 Werner M, Sych M, Herbon N, Illig T, Konig IR, et al. Large-scale determination of SNP allele frequencies in DNA pools using MALDI-TOF mass spectrometry HUMAN MUTATION. 2002; 20 (1): 57-64	7	53	4	44
3587	2312 Scriver CR, Hurtubise M, Konecki D, Phommarinh M, Prevost L, et al. PAHdb 2003: What a locus-specific knowledgebase can do HUMAN MUTATION. 2003 APR; 21 (4): 333-344	2	60	3	78
3588	2395 Andersen PS, Jespersgaard C, Vuust J, Christiansen M, Larsen LA Capillary electrophoresis-based single strand DNA conformation analysis in high-throughput mutation screening HUMAN MUTATION. 2003 MAY; 21 (5): 455-465	2	40	3	82
3589	3063 Audrezet M, Chen JM, Raguenes O, Chuzhanova N, Giteau K, et al. Genomic rearrangements in the CFTR gene: Extensive allelic heterogeneity and diverse mutational mechanisms HUMAN MUTATION. 2004; 23 (4): 343-357	6	56	5	75
3590	3064 Gut IG DNA analysis by MALDI-TOF mass spectrometry HUMAN MUTATION. 2004; 23 (5): 437-441	3	49	5	35
#	Date / Author / Journal	LCS	GCS	LCR	CR
3591	3065 Dedoussis GVZ, Schmidt H, Genschel J LDL-receptor mutations in Europe HUMAN MUTATION. 2004; 24 (6): 443-459	1	23	4	161
3592	4064 Chen JM, Chuzhanova N, Stenson PD, Ferec C, Cooper DN Meta-analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage HUMAN MUTATION. 2005; 25 (2): 207-221	9	47	12	106
3593	4580 Buckland PR, Hoogendoorn B, Coleman SL, Guy CA, Smith SK, et al. Strong bias the location of functional promoter polymorphisms HUMAN MUTATION. 2005 SEP; 26 (3): 214-223	0	32	8	33
3594	4581 Charbonnier FC, Baert-Desurmont S, Liang P, Di Fiore F, Martin C, et al. The 5 ' Region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences HUMAN MUTATION. 2005 SEP; 26 (3): 255-261	1	14	3	20
3595	5028 Koboldt DC, Miller RD, Kwok PY Distribution of human SNPs and its effect on high-throughput genotyping HUMAN MUTATION. 2006 MAR; 27 (3): 249-254	1	8	3	12
3596	5095 Wang JX, Song L, Grover D, Azrak S, Batzer MA, et al. DbRIP: A highly integrated database of retrotransposon insertion polymorphisms in humans HUMAN MUTATION. 2006 APR; 27 (4): 323-329	14	18	24	56
3597	5222 Pike BL, Groshen S, Hsu Y, Shai RM, Wang XM, et al. Comparisons of PCR based genome amplification systems using CpG island microarrays HUMAN MUTATION. 2006 JUN; 27 (6): 589-596	0	2	2	25
3598	5364 Patrinos GP National and ethnic mutation databases: recording populations' genography HUMAN MUTATION. 2006 SEP; 27 (9): 879-887	0	6	3	32
3599	5501 Costabile M, Quach A, Ferrante A Molecular approaches in the diagnosis of primary immunodeficiency diseases HUMAN MUTATION. 2006 DEC; 27 (12): 1163-1173	0	7	5	80
3600	5698 Sawatzki HK, Cooper DN Understanding the recent evolution of the human genome: Insights from human-chimpanzee genome comparisons HUMAN MUTATION. 2007 FEB; 28 (2): 99-130	0	1	95	478

Date / Author / Journal

LCS

GCS

LCR

3501

6373 Chulada PC, Vahdat HL, Sharp RR, DeLozier TC, Watkins PB, et al.

The environmental polymorphisms registry: A DNA resource to study genetic susceptibility loci

HUMAN GENETICS. 2008 MAR; 123 (2): 207-214

3502

6928 Zhang W, Duan SW, Bleibel WK, Wisel SA, Huang RS, et al.

Identification of common genetic variants that account for transcript isoform variation between human populations

HUMAN GENETICS. 2009 FEB; 125 (1): 81-93

3503

7050 Tariq M, Khan MN, Ahmad W

Ectodermal dysplasia-cutaneous syndactyly syndrome maps to chromosome 7p21.1-p14.3

HUMAN GENETICS. 2009 MAY; 125 (4): 421-429

3504

7128 Vandeweyer G, Kooy RF

Balanced translocations in mental retardation

HUMAN GENETICS. 2009 JUL; 126 (1): 133-147

139

3505

810 Rybicki BA, Iyengar SK, Harris T, Liptak R, Elston RC, et al.

The distribution of long range admixture linkage disequilibrium in an African-American population

HUMAN HEREDITY. 2002; 53 (4): 187-196

3506

811 DeWan AT, Parrado AR, Matise TC, Leal SM

Map error reduction: Using genetic and sequence-based physical maps to order closely linked markers

HUMAN HEREDITY. 2002; 54 (1): 34-44

3507

1984 Ansar M, Ramzan M, Pham TL, Yan K, Jamal SM, et al.

Localization of a novel autosomal recessive non-syndromic hearing impairment locus (DFNB38) to 6q26-q27 in a consanguineous kindred from Pakistan

HUMAN HEREDITY. 2003; 55 (1): 71-74

3508

3062 Ansar M, Chahrour MH, Din MAU, Arshad M, Haque S, et al.

DFNB44, a novel autosomal recessive non-syndromic hearing impairment locus, maps to chromosome 7p14.1-q11.22

HUMAN HEREDITY. 2004; 57 (4): 195-199

3509

4846 Witherspoon DJ, Marchani EE, Watkins WS, Ostler CT, Wooding SP, et al.

Human population genetic structure and diversity inferred from polymorphic L1 (LINE-1) and Alu insertions

HUMAN HEREDITY. 2006; 62 (1): 30-46

3510

6225 Guan WH, Pluzhnikov A, Cox NJ, Boehnke M, Int Type 2 Diabet Linkage Anal Con

Meta-analysis of 23 type 2 diabetes linkage studies from the international type 2 diabetes linkage analysis consortium

HUMAN HEREDITY. 2008; 66 (1): 35-U1

Date / Author / Journal

LCS

GCS

LCR

3511

203 Sakai K, Shirasawa S, Ishikawa N, Ito K, Tamai H, et al.

Identification of susceptibility loci for autoimmune thyroid disease to 5q31-q133 and Hashimoto's thyroiditis to 8q23-q24 by multipoint affected sib-pair linkage analysis in Japanese

HUMAN MOLECULAR GENETICS. 2001 JUN 15; 10 (13): 1379-1386

3512

403 Sutherland HGE, Mumford GK, Newton K, Ford LV, Farrall R, et al.

Large-scale identification of mammalian proteins localized to nuclear sub-compartments

HUMAN MOLECULAR GENETICS. 2001 SEP 1; 10 (18): 1995-2011

3513

494 Miller RD, Kwok PY

The birth and death of human single-nucleotide polymorphisms: new experimental evidence and implications for human history and medicine

HUMAN MOLECULAR GENETICS. 2001 OCT 1; 10 (20): 2195-2198

3514

495 Goodstadt L, Ponting CR

Sequence variation and disease in the wake of the draft human genome

HUMAN MOLECULAR GENETICS. 2001 OCT 1; 10 (20): 2209-2214

3515

496 Horvath JE, Bailey JA, Locke DP, Eichler EE

Lessons from the human genome: transitions between euchromatin and heterochromatin

HUMAN MOLECULAR GENETICS. 2001 OCT 1; 10 (20): 2215-2223

3516

502 Miller MP, Kumar S

Understanding human disease mutations through the use of interspecific genetic variation

HUMAN MOLECULAR GENETICS. 2001 OCT 2; 10 (21): 2319-2328

115

3517

594 Kondrashov FA, Koonin EV

Origin of alternative splicing by tandem exon duplication

HUMAN MOLECULAR GENETICS. 2001 NOV 1; 10 (23): 2661-2669

3518

610 Eisenbarth I, Striebel AM, Moschgath E, Vogel W, Assum G

Long-range sequence composition mirrors linkage disequilibrium pattern in a 1.13 Mb region of human chromosome 22

HUMAN MOLECULAR GENETICS. 2001 NOV 15; 10 (24): 2833-2839

3519

1037 Tiret L, Poirier O, Nicaud V, Barbaux S, Herrmann SM, et al.

Heterogeneity of linkage disequilibrium in human genes has implications for association studies of common diseases

HUMAN MOLECULAR GENETICS. 2002 FEB 15; 11 (4): 419-429

3520

1038 Clark F, Thanaraj TA

Categorization and characterization of transcript-confirmed constitutively and alternatively spliced introns and exons from human

HUMAN MOLECULAR GENETICS. 2002 FEB 15; 11 (4): 451-464

104

Date / Author / Journal

LCS

GCS

LCR

3521

1177 Thaung C, West K, Clark BJ, McKie L, Morgan JE, et al.

Novel ENU-induced eye mutations in the mouse: models for human eye disease

HUMAN MOLECULAR GENETICS. 2002 APR 1; 11 (7): 755-767

3522

1391 Schulze TG, Chen YS, Akula N, Hennessy K, Badner JA, et al.

Can long-range microsatellite data be used to predict short-range linkage disequilibrium?

HUMAN MOLECULAR GENETICS. 2002 JUN 1; 11 (12): 1363-1372

3523

1408 Cavaille J, Seitz H, Paulsen M, Ferguson-Smith AC, Bachellerie JP

Identification of tandemly-repeated C/D snoRNA genes at the imprinted human 14q32 domain reminiscent of those at the Prader-Willi/Angelman syndrome region

HUMAN MOLECULAR GENETICS. 2002 JUN 15; 11 (13): 1527-1538

3524

1409 Letunic I, Copley RR, Bork P

Common exon duplication in animals and its role in alternative splicing

HUMAN MOLECULAR GENETICS. 2002 JUN 15; 11 (13): 1561-1567

3525

1557 Coleman SL, Buckland PR, Hoogendoorn B, Guy C, Smith K, et al.

Experimental analysis of the annotation of promoters in the public database

HUMAN MOLECULAR GENETICS. 2002 AUG 1; 11 (16): 1817-1821

3526

1651 Wang PJ, Page DC

Functional substitution for TAF(II)250 by a retroposed homolog that is expressed in human spermatogenesis

HUMAN MOLECULAR GENETICS. 2002 SEP 15; 11 (19): 2341-2346

3527

1698 Stamm S

Signals and their transduction pathways regulating alternative splicing: a new dimension of the human genome

HUMAN MOLECULAR GENETICS. 2002 OCT 1; 11 (20): 2409-2416

109

101

3528

1874 Fisher RA, Hodges MD, Rees HC, Sebire NJ, Seckl MJ, et al.

The maternally transcribed gene p57(KIP2) (CDNK1C) is abnormally expressed in both androgenetic and biparental complete hydatidiform moles

HUMAN MOLECULAR GENETICS. 2002 DEC 15; 11 (26): 3267-3272

3529

2187 Duan JB, Wainwright MS, Comeron JM, Saitou N, Sanders AR, et al.

Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor

HUMAN MOLECULAR GENETICS. 2003 FEB 1; 12 (3): 205-216

240

3530

2343 Emes RD, Goodstadt L, Winter EE, Ponting CP

Comparison of the genomes of human and mouse lays the foundation of genome zoology

HUMAN MOLECULAR GENETICS. 2003 APR 1; 12 (7): 701-709

119

Date / Author / Journal

LCS

GCS

LCR

3531

2424 Furey TS, Haussler D

Integration of the cytogenetic map with the draft human genome sequence

HUMAN MOLECULAR GENETICS. 2003 MAY 1; 12 (9): 1037-1044

3532

2509 Gong ML, Zhang HY, Schulz H, Lee YA, Sun K, et al.

Genome-wide linkage reveals a locus for human essential (primary) hypertension on chromosome 12p

HUMAN MOLECULAR GENETICS. 2003 JUN 1; 12 (11): 1273-1277

3533

2510 Semenova E, Wang XF, Jablonski MM, Levorse J, Tilghman SM

An engineered 800 kilobase deletion of Uchl3 and Lmo7 on mouse chromosome 14 causes defects in viability, postnatal growth and degeneration of muscle and retina

HUMAN MOLECULAR GENETICS. 2003 JUN 1; 12 (11): 1301-1312

3534

2511 Nurtdinov RN, Artamonova II, Mironov AA, Gelfand MS

Low conservation of alternative splicing patterns in the human and mouse genomes

HUMAN MOLECULAR GENETICS. 2003 JUN 1; 12 (11): 1313-1320

3535

2512 Ejima Y, Yang LC

Trans mobilization of genomic DNA as a mechanism for retrotransposon-mediated exon shuffling

HUMAN MOLECULAR GENETICS. 2003 JUN 1; 12 (11): 1321-1328

3536

2667 Spiteri E, Babcock M, Kashork CD, Wakui K, Gogineni S, et al.

Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes

HUMAN MOLECULAR GENETICS. 2003 AUG 1; 12 (15): 1823-1837

3537

2747 Armengol L, Pujana MA, Cheung J, Scherer SW, Estivill X

Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements

HUMAN MOLECULAR GENETICS. 2003 SEP 1; 12 (17): 2201-2208

3538

2757 Hoogendoorn B, Coleman SL, Guy CA, Smith K, Bowen T, et al.

Functional analysis of human promoter polymorphisms

HUMAN MOLECULAR GENETICS. 2003 SEP 15; 12 (18): 2249-2254

3539

2808 Lercher MJ, Urrutia AO, Pavlicek A, Hurst LD

A unification of mosaic structures in the human genome

HUMAN MOLECULAR GENETICS. 2003 OCT 1; 12 (19): 2411-2415

3540

2823 McGregor E, Dunn MJ

Proteomics of heart disease

HUMAN MOLECULAR GENETICS. 2003 OCT 15; 12: R135-R144

104

Date / Author / Journal

LCS

GCS

LCR

3541

2888 Lavoie H, Debeane F, Trinh QD, Turcotte JF, Corbeil-Girard LP, et al.

Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains

HUMAN MOLECULAR GENETICS. 2003 NOV 15; 12 (22): 2967-2979

3542

2961 Sunyaev S, Kondrashov FA, Bork P, Ramensky V

Impact of selection, mutation rate and genetic drift on human genetic variation

HUMAN MOLECULAR GENETICS. 2003 DEC 15; 12 (24): 3325-3330

3543

3210 W, oodfine K, Fiegler H, Beare DM, Collins JE, et al.

Replication timing of the human genome

HUMAN MOLECULAR GENETICS. 2004 JAN 15; 13 (2): 191-202

107

3544

3284 Slaugenhaupt SA, Mull J, Leyne M, Cuajungco MP, Gill SP, et al.

Rescue of a human mRNA splicing defect by the plant cytokinin kinetin

HUMAN MOLECULAR GENETICS. 2004 FEB 15; 13 (4): 429-436

3545

3342 Stoilov P, Daoud R, Nayler O, Stamm S

Human tra2-beta1 autoregulates its protein concentration by influencing alternative splicing of its pre-mRNA

HUMAN MOLECULAR GENETICS. 2004 MAR 1; 13 (5): 509-524

3546

3495 Wang QL, Chen SM, Esumi N, Swain PK, Haines HS, et al.

QRX, a novel homeobox gene, modulates photoreceptor gene expression

HUMAN MOLECULAR GENETICS. 2004 MAY 15; 13 (10): 1025-1040

3547

3496 Goodier JL, Ostertag EM, Engleka KA, Seleme MC, Kazazian HH

A potential role for the nucleolus in L1 retrotransposition

HUMAN MOLECULAR GENETICS. 2004 MAY 15; 13 (10): 1041-1048

3548

3709 Zhang JZ, Webb DM

Rapid evolution of primate antiviral enzyme APOBEC3G

HUMAN MOLECULAR GENETICS. 2004 AUG 15; 13 (16): 1785-1791

3549

4162 Chueh AC, Wong LH, Wong N, Choo KHA

Variable and hierarchical size distribution of L1-retroelement-enriched CENP-A clusters within a functional human neocentromere

HUMAN MOLECULAR GENETICS. 2005 JAN 1; 14 (1): 85-93

3550

4227 Semon M, Mouchiroud D, Duret L

Relationship between gene expression and GC-content in mammals: statistical significance and biological relevance

HUMAN MOLECULAR GENETICS. 2005 FEB 1; 14 (3): 421-427

Date / Author / Journal

LCS

GCS

LCR

3551

4347 Alfano G, Vitiello C, Caccioppoli C, Caramico T, Carola A, et al.

Natural antisense transcripts associated with genes involved in eye development

HUMAN MOLECULAR GENETICS. 2005 APR 1; 14 (7): 913-923

3552

4447 Kol G, Lev-Maor G, Ast G

Human-mouse comparative analysis reveals that branch-site plasticity contributes to splicing regulation

HUMAN MOLECULAR GENETICS. 2005 JUN 1; 14 (11): 1559-1568

3553

4549 Sandovici I, Kassovska-Bratinova S, Loredo-Osti JC, Leppert M, Suarez A, et al.

Interindividual variability and parent of origin DNA methylation differences at specific human Alu elements

HUMAN MOLECULAR GENETICS. 2005 AUG 1; 14 (15): 2135-2143

3554

4550 Kryukov GV, Schmidt S, Sunyaev S

Small fitness effect of mutations in highly conserved non-coding regions

HUMAN MOLECULAR GENETICS. 2005 AUG 1; 14 (15): 2221-2229

3555

4713 Kulpa DA, Moran JV

Ribonucleoprotein particle formation is necessary but not sufficient for LINE-1 retrotransposition

HUMAN MOLECULAR GENETICS. 2005 NOV 1; 14 (21): 3237-3248

3556

5053 Abou-Sleymane G, Chalmel F, Helmlinger D, Lardenois A, Thibault C, et al.

Polyglutamine expansion causes neurodegeneration by altering the neuronal differentiation program

HUMAN MOLECULAR GENETICS. 2006 MAR 1; 15 (5): 691-703

3557

5120 Gorlov IP, Kimmel M, Amos CI

Strength of the purifying selection against different categories of the point mutations in the coding regions of the human genome

HUMAN MOLECULAR GENETICS. 2006 APR 1; 15 (7): 1143-1150

3558

5121 Newman TL, Rieder MJ, Morrison VA, Sharp AJ, Smith JD, et al.

High-throughput genotyping of intermediate-size structural variation

HUMAN MOLECULAR GENETICS. 2006 APR 1; 15 (7): 1159-1167

3559

5126 Pastinen T, Ge B, Hudson TJ

Influence of human genome polymorphism on gene expression

HUMAN MOLECULAR GENETICS. 2006 APR 15; 15: R9-R16

3560

5127 Temple G, Lamesch P, Milstein S, Hill DE, Wagner L, et al.

From genome to proteome: developing expression clone resources for the human genome

HUMAN MOLECULAR GENETICS. 2006 APR 15; 15: R31-R43

Date / Author / Journal

LCS

GCS

LCR

3561

5128 Feuk L, Marshall CR, Wintle RF, Scherer SW

Structural variants: changing the landscape of chromosomes and design of disease studies

HUMAN MOLECULAR GENETICS. 2006 APR 15; 15: R57-R66

127

3562

5129 Reeves GA, Thornton JM, BioSapiens Network Excellence

Integrating biological data through the genome

HUMAN MOLECULAR GENETICS. 2006 APR 15; 15: R81-R87

3563

5130 Callinan PA, Feinberg AP

The emerging science of epigenomics

HUMAN MOLECULAR GENETICS. 2006 APR 15; 15: R95-R101

3564

5304 Chen JC, Rattner A, Nathans J

Effects of L1 retrotransposon insertion on transcript processing, localization and accumulation: lessons from the retinal degeneration 7 mouse and implications for the genomic ecology of L1 elements

HUMAN MOLECULAR GENETICS. 2006 JUL 1; 15 (13): 2146-2156

3565

5389 Shen Y, Chow J, Wang ZD, Fan GP

Abnormal CpG island methylation occurs during in vitro differentiation of human embryonic stem cells

HUMAN MOLECULAR GENETICS. 2006 SEP 1; 15 (17): 2623-2635

3566

5830 Clark SJ

Action at a distance: epigenetic silencing of large chromosomal regions in carcinogenesis

HUMAN MOLECULAR GENETICS. 2007 APR 15; 16: R88-R95

107

3567

5963 Garcia-Perez JL, Marchetto MCN, Muotri AR, Coufal NG, Gage FH, et al.

LINE-1 retrotransposition in human embryonic stem cells

HUMAN MOLECULAR GENETICS. 2007 JUL 1; 16 (13): 1569-1577

3568

6106 Muotri AR, Marchetto MCN, Coufal NG, Gage FH

The necessary junk: new functions for transposable elements

HUMAN MOLECULAR GENETICS. 2007 OCT 15; 16: R159-R167

3569

6107 Pinto D, Marshall C, Feuk L, Scherer SW

Copy-number variation in control population cohorts

HUMAN MOLECULAR GENETICS. 2007 OCT 15; 16: R168-R173

3570

6108 Swaroop A, Branham KEH, Chen W, Abecasis G

Genetic susceptibility to age-related macular degeneration: a paradigm for dissecting complex disease traits

HUMAN MOLECULAR GENETICS. 2007 OCT 15; 16: R174-R182

129

Date / Author / Journal

LCS

GCS

LCR

3571

6121 Demura M, Martin RM, Shozu M, Sebastian S, Takayama K, et al.

Regional rearrangements in chromosome 15q21 cause formation of cryptic promoters for the CYP19 (aromatase) gene

HUMAN MOLECULAR GENETICS. 2007 NOV; 16 (21): 2529-2541

3572

6122 Babcock M, Yatsenko S, Hopkins J, Brenton M, Cao Q, et al.

Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndrome

HUMAN MOLECULAR GENETICS. 2007 NOV; 16 (21): 2560-2571

3573

6142 Sharp AJ, Itsara A, Cheng Z, Alkan C, Schwartz S, et al.

Optimal design of oligonucleotide microarrays for measurement of DNA copy-number

HUMAN MOLECULAR GENETICS. 2007 NOV 15; 16 (22): 2770-2779

3574

6302 Novoyatleva T, Heinrich B, Tang Y, Benderska N, Butchbach MER, et al.

Protein phosphatase 1 binds to the RNA recognition motif of several splicing factors and regulates alternative pre-mRNA processing

HUMAN MOLECULAR GENETICS. 2008 JAN 1; 17 (1): 52-70

3575

6488 Palles C, Johnson N, Coupland B, Taylor C, Carvajal J, et al.

Identification of genetic variants that influence circulating IGF1 levels: a targeted search strategy

HUMAN MOLECULAR GENETICS. 2008 MAY 15; 17 (10): 1457-1464

3576

7022 Landsverk ML, Ruzzo EK, Mefford HC, Buysse K, Buchan JG, et al.

Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy

HUMAN MOLECULAR GENETICS. 2009 APR 1; 18 (7): 1200-1208

3577

7023 Georgiou I, Noutsopoulos D, Dimitriadou E, Markopoulos G, Apergi A, et al.

Retrotransposon RNA expression and evidence for retrotransposition events in human oocytes

HUMAN MOLECULAR GENETICS. 2009 APR 1; 18 (7): 1221-1228

3578

7109 Lin L, Jiang P, Shen SH, Sato S, Davidson BL, et al.

Large-scale analysis of exonized mammalian-wide interspersed repeats in primate genomes

HUMAN MOLECULAR GENETICS. 2009 JUN 15; 18 (12): 2204-2214

3579

7264 Hon GC, Hawkins RD, Ren B

Predictive chromatin signatures in the mammalian genome

HUMAN MOLECULAR GENETICS. 2009 OCT 15; 18: R195-R201

3580

33 Gut IG

Automation in genotyping of single nucleotide polymorphisms

HUMAN MUTATION. 2001; 17 (6): 475-492

108

Date / Author / Journal

LCS

GCS

LCR

3581

34 Rannala B, Bertorelle G

Using linked markers to infer the age of a mutation

HUMAN MUTATION. 2001; 18 (2): 87-100

3582

812 Hardison RC, Chui DHK, Giardine B, Riemer C, Patrinos GP, et al.

HbVar. A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server

HUMAN MUTATION. 2002; 19 (3): 225-233

147

3583

813 Amos J, Patnaik M

Commercial molecular diagnostics in the US: The human genome project to the clinical laboratory

HUMAN MUTATION. 2002; 19 (4): 324-333

3584

814 Kutsche K, Ressler B, Katzera H, Orth U, Gillessen-Kaesbach G, et al.

Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genes

HUMAN MUTATION. 2002; 19 (5): 526-535

3585

815 Carbone MA, Applegarth DA, Robinson BH

Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings

HUMAN MUTATION. 2002; 20 (1): 48-56

3586

816 Werner M, Sych M, Herbon N, Illig T, Konig IR, et al.

Large-scale determination of SNP allele frequencies in DNA pools using MALDI-TOF mass spectrometry

HUMAN MUTATION. 2002; 20 (1): 57-64

3587

2312 Scriver CR, Hurtubise M, Konecki D, Phommarinh M, Prevost L, et al.

PAHdb 2003: What a locus-specific knowledgebase can do

HUMAN MUTATION. 2003 APR; 21 (4): 333-344

3588

2395 Andersen PS, Jespersgaard C, Vuust J, Christiansen M, Larsen LA

Capillary electrophoresis-based single strand DNA conformation analysis in high-throughput mutation screening

HUMAN MUTATION. 2003 MAY; 21 (5): 455-465

3589

3063 Audrezet M, Chen JM, Raguenes O, Chuzhanova N, Giteau K, et al.

Genomic rearrangements in the CFTR gene: Extensive allelic heterogeneity and diverse mutational mechanisms

HUMAN MUTATION. 2004; 23 (4): 343-357

3590

3064 Gut IG

DNA analysis by MALDI-TOF mass spectrometry

HUMAN MUTATION. 2004; 23 (5): 437-441

Date / Author / Journal

LCS

GCS

LCR

3591

3065 Dedoussis GVZ, Schmidt H, Genschel J

LDL-receptor mutations in Europe

HUMAN MUTATION. 2004; 24 (6): 443-459

161

3592

4064 Chen JM, Chuzhanova N, Stenson PD, Ferec C, Cooper DN

Meta-analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage

HUMAN MUTATION. 2005; 25 (2): 207-221

106

3593

4580 Buckland PR, Hoogendoorn B, Coleman SL, Guy CA, Smith SK, et al.

Strong bias the location of functional promoter polymorphisms

HUMAN MUTATION. 2005 SEP; 26 (3): 214-223

3594

4581 Charbonnier FC, Baert-Desurmont S, Liang P, Di Fiore F, Martin C, et al.

The 5 ' Region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences

HUMAN MUTATION. 2005 SEP; 26 (3): 255-261

3595

5028 Koboldt DC, Miller RD, Kwok PY

Distribution of human SNPs and its effect on high-throughput genotyping

HUMAN MUTATION. 2006 MAR; 27 (3): 249-254

3596

5095 Wang JX, Song L, Grover D, Azrak S, Batzer MA, et al.

DbRIP: A highly integrated database of retrotransposon insertion polymorphisms in humans

HUMAN MUTATION. 2006 APR; 27 (4): 323-329

3597

5222 Pike BL, Groshen S, Hsu Y, Shai RM, Wang XM, et al.

Comparisons of PCR based genome amplification systems using CpG island microarrays

HUMAN MUTATION. 2006 JUN; 27 (6): 589-596

3598

5364 Patrinos GP

National and ethnic mutation databases: recording populations' genography

HUMAN MUTATION. 2006 SEP; 27 (9): 879-887

3599

5501 Costabile M, Quach A, Ferrante A

Molecular approaches in the diagnosis of primary immunodeficiency diseases

HUMAN MUTATION. 2006 DEC; 27 (12): 1163-1173

3600

5698 Sawatzki HK, Cooper DN

Understanding the recent evolution of the human genome: Insights from human-chimpanzee genome comparisons

HUMAN MUTATION. 2007 FEB; 28 (2): 99-130

478

Initial sequencing and analysis of the human genome (Lander) The papers citing Lander ES, et al. "Initial sequencing and analysis of the human genome." NATURE. 2001 FEB 15; 409 (6822): 860-921	Historiographs	Glossary HistCite Guide About Grand Totals: LCS 38623, GCS 253809, CR 422506 Collection span: 2000 - 2010
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