101(top 100%)
papers
6.9K(top 2%)
citations
42(top 100%)
h-index
86(top 100%)
g-index
125
all documents
8.3K
doc citations
1.6K
citing journals
100
times ranked

Publications

105 papers • 8,321 citations • Sorted by year • Download PDF (PDF by citations)
Sort: Year | Citations
#ArticleIFCitationsLinks
1The effects of loss of Y chromosome on male health
Nature Reviews Genetics, 2025, 26, 320-335
34.213Citations (PDF)
2DNA methylation patterns contribute to changes of cellular differentiation pathways in leukocytes with LOY from patients with Alzheimer´s disease5.62Citations (PDF)
3Mosaic Loss of Chromosome Y Is Associated With Functional Outcome After Ischemic Stroke
Stroke, 2023, 54, 2434-2437
5.112Citations (PDF)
4Comprehensive cancer-oriented biobanking resource of human samples for studies of post-zygotic genetic variation involved in cancer predisposition
PLoS ONE, 2022, 17, e0266111
2.58Citations (PDF)
5High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing6.723Citations (PDF)
6Loss of Y in leukocytes as a risk factor for critical COVID-19 in men
Genome Medicine, 2022, 14,
10.125Citations (PDF)
7Immune cells lacking Y chromosome show dysregulation of autosomal gene expression5.688Citations (PDF)
8Leukocytes with chromosome Y loss have reduced abundance of the cell surface immunoprotein CD99
Scientific Reports, 2021, 11,
3.741Citations (PDF)
9Loss of Y and clonal hematopoiesis in blood—two sides of the same coin?
Leukemia, 2021, 36, 889-891
8.240Citations (PDF)
10Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins—Diagnostic implications1.710Citations (PDF)
11Genetic predisposition to mosaic Y chromosome loss in blood
Nature, 2019, 575, 652-657
34.3290Citations (PDF)
12Longitudinal changes in the frequency of mosaic chromosome Y loss in peripheral blood cells of aging men varies profoundly between individuals3.683Citations (PDF)
13PRR14L mutations are associated with chromosome 22 acquired uniparental disomy, age-related clonal hematopoiesis and myeloid neoplasia
Leukemia, 2018, 33, 1184-1194
8.215Citations (PDF)
14Mosaic loss of chromosome Y in leukocytes matters
Nature Genetics, 2018, 51, 4-7
26.169Citations (PDF)
15Loss of Chromosome Y in Leukocytes and Major Cardiovascular Events5.26Citations (PDF)
16Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease6.5232Citations (PDF)
17Mosaicism in health and disease — clones picking up speed
Nature Reviews Genetics, 2016, 18, 128-142
34.2247Citations (PDF)
18Concurrent DNA Copy-Number Alterations and Mutations in Genes Related to Maintenance of Genome Stability in Uninvolved Mammary Glandular Tissue from Breast Cancer Patients
Human Mutation, 2015, 36, 1088-1099
4.118Citations (PDF)
19Signatures of post-zygotic structural genetic aberrations in the cells of histologically normal breast tissue that can predispose to sporadic breast cancer
Genome Research, 2015, 25, 1521-1535
4.732Citations (PDF)
20Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer
Nature Genetics, 2014, 46, 624-628
26.1414Citations (PDF)
21Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime3.739Citations (PDF)
22Republished: Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime
Postgraduate Medical Journal, 2013, 89, 417-426
1.99Citations (PDF)
23Post-Zygotic and Inter-Individual Structural Genetic Variation in a Presumptive Enhancer Element of the Locus between the IL10Rβ and IFNAR1 Genes
PLoS ONE, 2013, 8, e67752
2.52Citations (PDF)
24Procoagulant activity in patients with sickle cell trait1.112Citations (PDF)
25Age-Related Somatic Structural Changes in the Nuclear Genome of Human Blood Cells6.5179Citations (PDF)
26Common pathogenetic mechanism involving human chromosome 18 in familial and sporadic ileal carcinoid tumors3.491Citations (PDF)
27Focal amplifications are associated with high grade and recurrences in stage Ta bladder carcinoma
International Journal of Cancer, 2010, 126, 1390-1402
4.561Citations (PDF)
28Somatic mosaicism for chromosome X and Y aneuploidies in monozygotic twins heterozygous for sickle cell disease mutation1.719Citations (PDF)
29Frequent genetic differences between matched primary and metastatic breast cancer provide an approach to identification of biomarkers for disease progression3.642Citations (PDF)
30Integrative epigenomic and genomic analysis of malignant pheochromocytoma11.634Citations (PDF)
31Genome-wide microarray-based comparative genomic hybridization analysis of lymphoplasmacytic lymphomas reveals heterogeneous aberrations
Leukemia and Lymphoma, 2009, 50, 1528-1534
1.78Citations (PDF)
32Characterization of novel and complex genomic aberrations in glioblastoma using a 32K BAC array
Neuro-Oncology, 2009, 11, 803-818
0.944Citations (PDF)
33Genome‐wide high‐resolution analysis of DNA copy number alterations in NF1‐associated malignant peripheral nerve sheath tumors using 32K BAC array
Genes Chromosomes and Cancer, 2009, 48, 897-907
3.453Citations (PDF)
34Tissue-specific variation in DNA methylation levels along human chromosome 13.359Citations (PDF)
35Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array
Human Mutation, 2008, 29, 398-408
4.147Citations (PDF)
36Somatic mosaicism for copy number variation in differentiated human tissues
Human Mutation, 2008, 29, 1118-1124
4.1187Citations (PDF)
37Distal 22q11.2 microduplication encompassing the <i>BCR</i> gene1.731Citations (PDF)
38Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles6.5546Citations (PDF)
39Autoantibodies to glutathione S-transferase theta 1 in patients with primary sclerosing cholangitis and other autoimmune diseases
Journal of Autoimmunity, 2008, 30, 273-282
6.817Citations (PDF)
40A segmental maximum a posteriori approach to genome-wide copy number profiling
Bioinformatics, 2008, 24, 751-758
5.030Citations (PDF)
41The Mechanism of Cystic Fibrosis Transmembrane Conductance Regulator Transcriptional Repression during the Unfolded Protein Response
Journal of Biological Chemistry, 2008, 283, 12154-12165
2.369Citations (PDF)
42High-Resolution DNA Copy Number Profiling of Malignant Peripheral Nerve Sheath Tumors Using Targeted Microarray-Based Comparative Genomic Hybridization
Clinical Cancer Research, 2008, 14, 1015-1024
6.4126Citations (PDF)
43A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the <i>BCR</i> gene1.744Citations (PDF)
44Comprehensive genetic and epigenetic analysis of sporadic meningioma for macro-mutations on 22q and micro-mutations within the NF2 locus
BMC Genomics, 2007, 8,
3.370Citations (PDF)
45Analysis of copy number variation in the normal human population within a region containing complex segmental duplications on 22q11 using high-resolution array-CGH
Genomics, 2006, 88, 152-162
2.713Citations (PDF)
46Chromosome 22 array-CGH profiling of breast cancer delimited minimal common regions of genomic imbalances and revealed frequent intra-tumoral genetic heterogeneity3.66Citations (PDF)
47Microarray-based survey of CpG islands identifies concurrent hyper- and hypomethylation patterns in tissues derived from patients with breast cancer
Genes Chromosomes and Cancer, 2006, 45, 656-667
3.442Citations (PDF)
48Detailed assessment of chromosome 22 aberrations in sporadic pheochromocytoma using array-CGH
International Journal of Cancer, 2006, 118, 1159-1164
4.524Citations (PDF)
49Identification of limited regions of genetic aberrations in patients affected with Wilms' tumor using a tiling-path chromosome 22 array4.510Citations (PDF)
50Copy-number polymorphisms: mining the tip of an iceberg
Trends in Genetics, 2005, 21, 315-317
8.745Citations (PDF)
51High‐resolution gene copy number and expression profiling of human chromosome 22 in ovarian carcinomas
Genes Chromosomes and Cancer, 2005, 42, 228-237
3.421Citations (PDF)
52Localization of a putative low-penetrance ependymoma susceptibility locus to 22q11 using a chromosome 22 tiling-path genomic microarray
Genes Chromosomes and Cancer, 2005, 43, 329-338
3.426Citations (PDF)
53Chromosome 22 tiling-path array-CGH analysis identifies germ-line- and tumor-specific aberrations in patients with glioblastoma multiforme
Genes Chromosomes and Cancer, 2005, 44, 161-169
3.434Citations (PDF)
54Identification of genetic aberrations on chromosome 22 outside theNF2locus in schwannomatosis and neurofibromatosis type 2
Human Mutation, 2005, 26, 540-549
4.129Citations (PDF)
55High-resolution array-CGH profiling of germline and tumor-specific copy number alterations on chromosome 22 in patients affected with schwannomas
Human Genetics, 2005, 118, 35-44
3.120Citations (PDF)
56Comprehensive DNA Copy Number Profiling of Meningioma Using a Chromosome 1 Tiling Path Microarray Identifies Novel Candidate Tumor Suppressor Loci
Cancer Research, 2005, 65, 2653-2661
0.644Citations (PDF)
57Exon Array CGH: Detection of Copy-Number Changes at the Resolution of Individual Exons in the Human Genome6.5133Citations (PDF)
58DNA copy-number analysis of the 22q11 deletion-syndrome region using array-CGH with genomic and PCR-based targets4.115Citations (PDF)
59LARGE can functionally bypass α-dystroglycan glycosylation defects in distinct congenital muscular dystrophies
Nature Medicine, 2004, 10, 696-703
36.5256Citations (PDF)
60Genomic microarrays in the spotlight
Trends in Genetics, 2004, 20, 87-94
8.7155Citations (PDF)
61Molecular Recognition by LARGE Is Essential for Expression of Functional Dystroglycan
Cell, 2004, 117, 953-964
28.6257Citations (PDF)
62NF2 Tumor Suppressor Gene: A Comprehensive and Efficient Detection of Somatic Mutations by Denaturing HPLC and Microarray-CGH
NeuroMolecular Medicine, 2003, 3, 41-52
3.812Citations (PDF)
63Development of NF2 gene specific, strictly sequence defined diagnostic microarray for deletion detection3.731Citations (PDF)
64Strong conservation of the human NF2 locus based on sequence comparison in five species
Mammalian Genome, 2003, 14, 526-536
2.57Citations (PDF)
65Does chromosome 22 have anything to do with sex determination: Further studies on a 46,XX,22q11.2 del male2.211Citations (PDF)
66Coincidence of synteny breakpoints with malignancy-related deletions on human chromosome 37.514Citations (PDF)
67The transcriptional map of the common eliminated region 1 (C3CER1) in 3p21.33.639Citations (PDF)
68A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications
Human Molecular Genetics, 2002, 11, 3221-3229
3.1132Citations (PDF)
69Mouse cytosolic and mitochondrial deoxyribonucleotidases: cDNA cloning of the mitochondrial enzyme, gene structures, chromosomal mapping and comparison with the human orthologs
Gene, 2002, 294, 109-117
2.410Citations (PDF)
70Comparative human/murine sequence analysis of the common eliminated region 1 from human 3p21.3
Mammalian Genome, 2002, 13, 646-655
2.518Citations (PDF)
71The LZTFL1 Gene Is a Part of a Transcriptional Map Covering 250 kb within the Common Eliminated Region 1 (C3CER1) in 3p21.3
Genomics, 2001, 73, 10-19
2.734Citations (PDF)
72Analysis of short stature homeobox-containing gene ( SHOX ) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity
Human Genetics, 2001, 109, 551-558
3.160Citations (PDF)
73High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH
Human Molecular Genetics, 2001, 10, 271-282
3.1149Citations (PDF)
74A case of dermatofibrosarcoma protuberans of the vulva with a COL1A1/PDGFB fusion identical to a case of giant cell fibroblastoma3.146Citations (PDF)
75Fine mapping of the constitutional translocation t(11;22)(q23;q11)
Human Genetics, 2000, 106, 506-516
3.120Citations (PDF)
76Characterization of Five Novel Human Genes in the 11q13-q22 Region2.113Citations (PDF)
77Duplications on Human Chromosome 22 Reveal a Novel Ret Finger Protein-Like Gene Family with Sense and Endogenous Antisense Transcripts
Genome Research, 1999, 9, 803-814
4.733Citations (PDF)
78Psoriasis Upregulated Phorbolin-1 Shares Structural but not Functional Similarity to the mRNA-Editing Protein Apobec-10.655Citations (PDF)
79Severe phenotype of neurofibromatosis type 2 in a patient with a 7.4-MB constitutional deletion on chromosome 22: Possible localization of a neurofibromatosis type 2 modifier gene?
1999, 25, 184-190
37Citations (PDF)
80TOM1Genes Map to Human Chromosome 22q13.1 and Mouse Chromosome 8C1 and Encode Proteins Similar to the Endosomal Proteins HGS and STAM
Genomics, 1999, 57, 380-388
2.726Citations (PDF)
81A 1-Mb PAC Contig Spanning the Common Eliminated Region 1 (CER1) in Microcell Hybrid-Derived SCID Tumors
Genomics, 1999, 62, 147-155
2.728Citations (PDF)
82Genomic Structure, 5′ Flanking Sequences, and Precise Localization in 1P31.1 of the Human Prostaglandin F Receptor Gene2.117Citations (PDF)
83The Mouse Ortholog of the HumanSMARCB1Gene Encodes Two Splice Forms2.128Citations (PDF)
84Various regions within the alpha-helical domain of theCOL1A1 gene are fused to the second exon of thePDGFB gene in dermatofibrosarcomas and giant-cell fibroblastomas
Genes Chromosomes and Cancer, 1998, 23, 187-193
3.4165Citations (PDF)
85Characterization of the human NIPSNAP1 gene from 22q12: a member of a novel gene family
Gene, 1998, 212, 13-20
2.449Citations (PDF)
86A case of dermatofibrosarcoma protuberans with a ring chromosome 5 and a rearranged chromosome 22 containing amplified COL1A1 and PDGFB sequences
Cancer Letters, 1998, 133, 129-134
8.535Citations (PDF)
87Cloning, Expression Pattern, and Chromosomal Assignment to 16q23 of the Human γ-Adaptin Gene (ADTG)
Genomics, 1998, 50, 275-280
2.77Citations (PDF)
88Deregulation of the platelet-derived growth factor β-chain gene via fusion with collagen gene COL1A1 in dermatof ibrosarcoma protuberans and giant-cell fibroblastoma
Nature Genetics, 1997, 15, 95-98
26.1538Citations (PDF)
89Characterization of the mouse beta-prime adaptin gene; cDNA sequence, genomic structure, and chromosomal localization
Mammalian Genome, 1997, 8, 651-656
2.57Citations (PDF)
901p and 3p deletions in meningiomas without detectable aberrations of chromosome 22 identified by comparative genomic hybridization
1997, 20, 419-424
30Citations (PDF)
91Regional Localization of over 300 Loci on Human Chromosome 22 Using a Somatic Cell Hybrid Mapping Panel
Genomics, 1996, 35, 275-288
2.728Citations (PDF)
92Structure of the Promoter and Genomic Organization of the Human β′-Adaptin Gene (BAM22) from Chromosome 22q12
Genomics, 1996, 36, 112-117
2.727Citations (PDF)
93Sequence and Expression of the Mouse Homologue to Human Phospholipase C β3 Neighboring Gene2.110Citations (PDF)
94Characterization of a second human clathrin heavy chain polypeptide gene (CLH-22) from chromosome 22q11
Human Molecular Genetics, 1996, 5, 625-631
3.155Citations (PDF)
95Isolation and mapping of cosmid markers on human chromosome 22, including one within the submicroscopically deleted region of DiGeorge syndrome
Human Genetics, 1994, 93, 248-254
3.130Citations (PDF)
96Deletions on chromosome 22 in sporadic meningioma
Genes Chromosomes and Cancer, 1994, 10, 122-130
3.4120Citations (PDF)
97Chromosomal deletions in anaplastic meningiomas suggest multiple regions outside chromosome 22 as important in tumor progression4.593Citations (PDF)
98Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas
Nature Genetics, 1994, 6, 180-184
26.1542Citations (PDF)
99Physical Mapping of the NF2/Meningioma Region on Human Chromosome 22q12
Genomics, 1994, 19, 52-59
2.718Citations (PDF)
100Regional fine mapping of the β crystallin genes on chromosome 22 excludes these genes as physically linked markers for neurofibromatosis type 23.410Citations (PDF)
101The Genes for Oncostatin M (OSM) and Leukemia Inhibitory Factor (LIF) Are Tightly Linked on Human Chromosome 22
Genomics, 1993, 17, 136-140
2.754Citations (PDF)
102Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome
Genomics, 1991, 10, 201-206
2.7246Citations (PDF)
103A map of 22 loci on human chromosome 22
Genomics, 1991, 11, 709-719
2.731Citations (PDF)
104The Molecular Genetics of Meningiomas
Brain Pathology, 1990, 1, 19-24
4.855Citations (PDF)
105Isolation of anonymous, polymorphic DNA fragments from human chromosome 22q12-qter
Human Genetics, 1990, 84, 219-222
3.126Citations (PDF)