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J. Ramser · SciRah

Researcher profile · Semantic Scholar

J. Ramser

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J. Ramser — researcher profile on SciRah

h-index: 35
Works: 78
Citations: 33K

Most-cited papers

Initial sequencing and analysis of the human genome
E. Lander, L. Linton, B. Birren, C. Nusbaum +252 more
2001Nature24K citations Open access
Semantic Scholar
The DNA sequence of human chromosome 21
Masahira Hattori, A. Fujiyama, T. Taylor, H. Watanabe +59 more
2000Nature1,409 citations Open access
Semantic Scholar
The DNA sequence of the human X chromosome
M. Ross, D. Grafham, A. Coffey, S. Scherer +278 more
2005Nature1,115 citations Open access
Semantic Scholar
A physical map of the human genome
J. Mcpherson, Marco A. Marra, L. Hillier, R. Waterston +109 more
2001Nature827 citations Open access
Semantic Scholar
Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene
A. Meindl, H. Hellebrand, C. Wiek, Verena Erven +20 more
2010Nature Genetics764 citations
Semantic Scholar
Classification of non-bacterial osteitis: retrospective study of clinical, immunological and genetic aspects in 89 patients.
A. Jansson, E. Renner, J. Ramser, A. Mayer +7 more
2007Rheumatology457 citations Open access
Semantic Scholar
Hailey–Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca2+ pump
R. Sudbrak, Joanna H. Brown, C. Dobson-Stone, S. Carter +12 more
2000275 citations Open access
Semantic Scholar
Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants
Shuai Li, Valentina Silvestri, Goska Leslie, T. Rebbeck +98 more
2022Journal of Clinical Oncology239 citations Open access
Semantic Scholar
A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor.
J. Ramser, F. Abidi, Céline Burcklé, C. Lenski +8 more
2005Human Molecular Genetics188 citations Open access
Semantic Scholar
Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy.
J. Ramser, M. E. Ahearn, C. Lenski, K. Yariz +8 more
2008American Journal of Human Genetics187 citations Open access
Semantic Scholar
Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a susceptibility gene located on chromosome 18q21.3-18q22
A. Golla, A. Jansson, J. Ramser, H. Hellebrand +4 more
2002European Journal of Human Genetics180 citations
Semantic Scholar
Gene panel testing of 5589 BRCA1/2‐negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer
J. Hauke, J. Horváth, E. Gross, A. Gehrig +41 more
2018Cancer Medicine172 citations Open access
Semantic Scholar
X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15.
F. Demirci, Brian W. Rigatti, G. Wen, A. L. Radak +6 more
2002American Journal of Human Genetics168 citations Open access
Semantic Scholar
Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump.
R. Sudbrak, J. Brown, C. Dobson-Stone, S. Carter +12 more
2000Human Molecular Genetics142 citations
Semantic Scholar
Plant DNA fingerprinting with radioactive and digoxigenated oligonucleotide probes complementary to simple repetitive DNA sequences
K. Weising, B. Beyermann, J. Ramser, G. Kahl
1991Electrophoresis122 citations
Semantic Scholar
The DNA sequence of human chromosome 21 The chromosome 21 mapping and sequencing consortium
M. Hattori, A. Fujiyama, T. Taylor, H. Watanabe +59 more
2000117 citations
Semantic Scholar
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
D. Barnes, M. Rookus, L. McGuffog, Goska Leslie +190 more
2020Genetics in Medicine116 citations Open access
Semantic Scholar
Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
Manuel A. R. Ferreira, E. Gamazon, F. Al-Ejeh, K. Aittomäki +308 more
2019Nature Communications116 citations Open access
Semantic Scholar
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer
N. Weber-Lassalle, J. Hauke, J. Ramser, L. Richters +33 more
2018Breast Cancer Research116 citations Open access
Semantic Scholar
Identification of brain- and bone-specific breast cancer metastasis genes.
A. Klein, C. Olendrowitz, R. Schmutzler, J. Hampl +8 more
2009Cancer Letters114 citations
Semantic Scholar
An integrated, functionally annotated gene map of the DXS8026-ELK1 interval on human Xp11.3-Xp11.23: potential hotspot for neurogenetic disorders.
D. Thiselton, J. McDowall, O. Brandau, J. Ramser +5 more
2002Genomics110 citations
Semantic Scholar
Erratum: The DNA sequence of human chromosome 21: The chromosome 21 mapping and sequencing consortium (Nature (2000) 405 (311-319))
M. Hattori, A. Fujiyama, T. Taylor, Hidemi Watanabe +60 more
2000100 citations
Semantic Scholar
Decreased expression of angiogenesis antagonist EFEMP1 in sporadic breast cancer is caused by aberrant promoter methylation and points to an impact of EFEMP1 as molecular biomarker
A. Sadr-Nabavi, J. Ramser, J. Volkmann, J. Naehrig +14 more
2009International Journal of Cancer90 citations Open access
Semantic Scholar
Hybridization of microsatellites to RAPD: a new source of polymorphic markers.
T. Richardson, S. Cato, J. Ramser, Günter Kahl +1 more
1995Nucleic Acids Research87 citations Open access
Semantic Scholar
Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer
Guido Neidhardt, J. Hauke, J. Ramser, E. Gross +23 more
2017JAMA Oncology84 citations Open access
Semantic Scholar
Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly.
C. Lenski, F. Abidi, A. Meindl, A. Gibson +6 more
2004American Journal of Human Genetics74 citations Open access
Semantic Scholar
Genomic variation and relationships in aerial yam (Dioscorea bulbifera L.) detected by random amplified polymorphic DNA.
J. Ramser, K. Weising, Günter Kahl, Cristina López-Peralta +1 more
1996Genome74 citations
Semantic Scholar
A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9)
J. Ramser, B. Winnepenninckx, C. Lenski, V. Errijgers +4 more
2004Journal of Medical Genetics71 citations Open access
Semantic Scholar
The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior.
C. Lenski, R. Kooy, E. Reyniers, D. Loessner +7 more
2007American Journal of Human Genetics64 citations Open access
Semantic Scholar
Genetic variation and cultivar identification of Jamaican yam germplasm by random amplified polymorphic DNA analysis
H. Asemota, J. Ramser, C. López-Peralta, K. Weising +1 more
1995Euphytica59 citations
Semantic Scholar
Molecular marker based taxonomy and phylogeny of Guinea yam (Dioscorea rotundata - D. cayenensis).
J. Ramser, K. Weising, R. Terauchi, Günter Kahl +2 more
1997Genome54 citations
Semantic Scholar
Oligonucleotide Fingerprinting in Plants and Fungi
K. Weising, J. Ramser, D. Kaemmer, G. Kahl +1 more
199151 citations
Semantic Scholar
A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation
I. Martinez-Garay, M. Tomás, S. Oltra, J. Ramser +5 more
2007European Journal of Human Genetics38 citations Open access
Semantic Scholar
High expression of crystallin αB represents an independent molecular marker for unfavourable ovarian cancer patient outcome and impairs TRAIL‐ and cisplatin‐induced apoptosis in human ovarian cancer cells
J. Volkmann, U. Reuning, M. Rudelius, Norman Häfner +10 more
2013International Journal of Cancer37 citations
Semantic Scholar
Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores
D. Barnes, Valentina Silvestri, Goska Leslie, L. McGuffog +160 more
2021Journal of the National Cancer Institute36 citations Open access
Semantic Scholar
Preselection of shotgun clones by oligonucleotide fingerprinting: an efficient and high throughput strategy to reduce redundancy in large-scale sequencing projects.
Uwe Radelof, S. Hennig, P. Seranski, M. Steinfath +5 more
1998Nucleic Acids Research34 citations Open access
Semantic Scholar
Honeybee (Apis mellifera L.) mrjp gene family: computational analysis of putative promoters and genomic structure of mrjp1, the gene coding for the most abundant protein of larval food.
Barbora Malecova, J. Ramser, J. O'Brien, Michael Janitz +3 more
2003Gene33 citations
Semantic Scholar
Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer
Muriel Rolfes, J. Borde, K. Möllenhoff, Mohamad Kayali +22 more
2022Cancers29 citations Open access
Semantic Scholar
Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer
B. Wappenschmidt, J. Hauke, U. Faust, D. Niederacher +9 more
2020Geburtshilfe und Frauenheilkunde26 citations Open access
Semantic Scholar
Oligonucleotide Fingerprinting Detects Genetic Variability at Different Levels in Nigerian Mycosphaerella fijiensis
R. Müller, C. Pasberg-Gauhl, F. Gauhl, J. Ramser +1 more
199726 citations
Semantic Scholar
Increased informativeness of RAPD analysis by detection of microsatellite motifs.
J. Ramser, K. Weising, Viktor Chikaleke, Günter Kahl
1997BioTechniques26 citations Open access
Semantic Scholar
Chromosomal region 15q21.1 is a frequent target of allelic imbalance in advanced breast carcinomas
K. Rhiem, A. Klein, Miriam Münch, Rene Kreutzfeld +6 more
2003International Journal of Cancer25 citations
Semantic Scholar
DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elements
R. Kirschner, Deniz Erturk, C. Zeitz, Selen Şahin +4 more
2001Human Genetics22 citations
Semantic Scholar
Criteria for gene identification and features of genome organization: analysis of 6.5 Mb of DNA sequence from human chromosome 21.
D. Slavov, Masahira Hattori, Y. Sakaki, A. Rosenthal +10 more
2000Gene22 citations
Semantic Scholar
Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness
Vivek Patel, Evan L. Busch, T. Friebel, A. Cronin +259 more
2019Cancer Research21 citations Open access
Semantic Scholar
Physical and transcriptional mapping of the 17p13.3 region that is frequently deleted in human cancer.
C. Hoff, Peter Seranski, J. Mollenhauer, Bernhard Korn +4 more
2000Genomics21 citations
Semantic Scholar
Full-Length L1CAM and Not Its Δ2Δ27 Splice Variant Promotes Metastasis through Induction of Gelatinase Expression
S. Hauser, Laura Bickel, Dirk Weinspach, M. Gerg +12 more
2011PLoS ONE20 citations Open access
Semantic Scholar
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
C. Hakkaart, J. Pearson, L. Marquart, J. Dennis +157 more
2022Communications Biology18 citations Open access
Semantic Scholar
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
M. Parsons, Emma Tudini, Hong-Yan Li, E. Hahnen +217 more
2019Human Mutation15 citations Open access
Semantic Scholar
Characterization of a highly complex region in Xq13 and mapping of three isodicentric breakpoints associated with preleukemia.
N. Mcdonell, J. Ramser, Fiona Francis, M. Vinet +11 more
2000Genomics14 citations
Semantic Scholar

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