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A. Rump · SciRah

Researcher profile · Semantic Scholar

A. Rump

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A. Rump — researcher profile on SciRah

h-index: 32
Works: 101
Citations: 32K

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
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
A. Rauch, D. Wieczorek, E. Graf, T. Wieland +35 more
2012The Lancet1,062 citations Open access
Semantic Scholar
Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
E. Rao, B. Weiß, M. Fukami, A. Rump +13 more
1997Nature Genetics957 citations
Semantic Scholar
Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31
P. Mburu, M. Mustapha, Anabel Varela, D. Weil +20 more
2003Nature Genetics354 citations
Semantic Scholar
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
Lot Snijders Blok, E. Madsen, J. Juusola, C. Gilissen +81 more
2015American Journal of Human Genetics273 citations Open access
Semantic Scholar
Comprehensive Genomic and Transcriptomic Analysis for Guiding Therapeutic Decisions in Patients with Rare Cancers.
P. Horák, C. Heining, S. Kreutzfeldt, B. Hutter +55 more
2021Cancer Discovery241 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
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
Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
A. Verloes, N. Di Donato, J. Masliah-Planchon, M. Jongmans +48 more
2014European Journal of Human Genetics150 citations Open access
Semantic Scholar
A misplaced lncRNA causes brachydactyly in humans.
P. Maass, A. Rump, H. Schulz, S. Stricker +7 more
2012Journal of Clinical Investigation128 citations Open access
Semantic Scholar
Identification of a Set of Seven Genes for the Monitoring of Minimal Residual Disease in Pediatric Acute Myeloid Leukemia
D. Steinbach, A. Schramm, A. Eggert, M. Onda +8 more
2006Clinical Cancer Research128 citations
Semantic Scholar
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly
N. Di Donato, A. Timms, K. Aldinger, G. Mirzaa +17 more
2018Genetics in Medicine117 citations Open access
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
Comprehensive molecular characterization of multifocal glioblastoma proves its monoclonal origin and reveals novel insights into clonal evolution and heterogeneity of glioblastomas
K. Abou-El-Ardat, Michael Seifert, K. Becker, Sophie Eisenreich +10 more
2017Neuro-Oncology107 citations Open access
Semantic Scholar
New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy
Alexandra Pinggera, Luisa Mackenroth, A. Rump, J. Schallner +3 more
2017Human Molecular Genetics104 citations Open access
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
Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt
N. Di Donato, T. Neuhann, Anne-Karin Kahlert, B. Klink +17 more
2016Journal of Medical Genetics91 citations Open access
Semantic Scholar
Expression levels of the putative zinc transporter LIV‐1 are associated with a better outcome of breast cancer patients
Grit Kasper, Armin A. Weiser, A. Rump, K. Sparbier +6 more
2005International Journal of Cancer90 citations
Semantic Scholar
Severe forms of Baraitser–Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations
N. Di Donato, A. Rump, R. Koenig, V. D. der Kaloustian +7 more
2013European Journal of Human Genetics85 citations Open access
Semantic Scholar
A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E.
P. Maass, J. Wirth, A. Aydın, A. Rump +7 more
2010Human Molecular Genetics66 citations Open access
Semantic Scholar
Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia
Sharissa L. Latham, Nadja Ehmke, P. Reinke, M. H. Taft +23 more
2018Nature Communications62 citations Open access
Semantic Scholar
Comparative genome sequence analysis of the Bpa/Str region in mouse and Man.
A. Mallon, Matthias Platzer, R. Bate, G. Gloeckner +27 more
2000Genome Research55 citations Open access
Semantic Scholar
Diagnostic value of partial exome sequencing in developmental disorders
L. Gieldon, Luisa Mackenroth, Anne-Karin Kahlert, J. Lemke +16 more
2018PLoS ONE51 citations Open access
Semantic Scholar
HBOC multi-gene panel testing: comparison of two sequencing centers
C. Schroeder, U. Faust, M. Sturm, K. Hackmann +16 more
2015Breast Cancer Research and Treatment45 citations
Semantic Scholar
Update on the ACTG1‐associated Baraitser–Winter cerebrofrontofacial syndrome
N. Di Donato, A. Kuechler, S. Vergano, W. Heinritz +14 more
2016American Journal of Medical Genetics. Part A41 citations
Semantic Scholar
The contribution of homology arms to nuclease-assisted genome engineering
O. Baker, S. Tsurkan, Jun Fu, B. Klink +6 more
2017Nucleic Acids Research40 citations Open access
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
Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia
Sharissa L. Latham, Nadja Ehmke, P. Reinke, M. H. Taft +23 more
2018Nature Communications35 citations Open access
Semantic Scholar
Expression of mouse Tbx22 supports its role in palatogenesis and glossogenesis
A. Herr, D. Meunier, Ines Müller, A. Rump +3 more
2003Developmental Dynamics34 citations
Semantic Scholar
Performance of breast cancer polygenic risk scores in 760 female CHEK2 germline mutation carriers.
J. Borde, C. Ernst, B. Wappenschmidt, D. Niederacher +27 more
2020Journal of the National Cancer Institute33 citations Open access
Semantic Scholar
Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches
L. Gieldon, D. William, K. Hackmann, Winnie Jahn +19 more
2019Cancers33 citations Open access
Semantic Scholar
Genetic and genomic studies of pathogenic EXOSC2 mutations in the newly described disease SHRF implicate the autophagy pathway in disease pathogenesis.
Xue Yang, Vafa Bayat, N. Di Donato, Yang Zhao +9 more
2019Human Molecular Genetics33 citations Open access
Semantic Scholar
High-resolution analysis of chromosomal imbalances using the Affymetrix 10K SNP genotyping chip.
A. Herr, R. Grützmann, A. Matthaei, J. Artelt +3 more
2005Genomics33 citations
Semantic Scholar
Partial deletion of GLRB and GRIA2 in a patient with intellectual disability
K. Hackmann, Sarah Matko, Eva-Maria Gerlach, M. von der Hagen +4 more
2012European Journal of Human Genetics30 citations Open access
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
Targeted capture-based NGS is superior to multiplex PCR-based NGS for hereditary BRCA1 and BRCA2 gene analysis in FFPE tumor samples
F. Zakrzewski, L. Gieldon, A. Rump, Michael Seifert +13 more
2019BMC Cancer29 citations Open access
Semantic Scholar
A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation.
Teresa M. Neuhann, J. Artelt, T. Neuhann, S. Tinschert +1 more
2011Investigative Ophthalmology and Visual Science29 citations
Semantic Scholar
Characterization of a new X‐linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus
C. du Souich, Athena Chou, Jingyi Yin, T. Oh +11 more
2009American Journal of Medical Genetics. Part A28 citations
Semantic Scholar
Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer
A. Rump, A. Benet-Pagès, S. Schubert, J. Kuhlmann +20 more
2016PLoS Genetics27 citations Open access
Semantic Scholar
Elevated DNA sequence diversity in the genomic region of the phosphatase PPP2R3L gene in the human pseudoautosomal region
K. Schiebel, J. Meder, A. Rump, André Rosenthal +5 more
2001Cytogenetic and Genome Research27 citations
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
Different structural organization of the encephalopsin gene in man and mouse.
Grit Kasper, S. Taudien, Eike Staub, Detlev Mennerich +6 more
2002Gene26 citations
Semantic Scholar
Editing of GluR2 RNA in the Gerbil Hippocampus after Global Cerebral Ischemia
A. Rump, C. Sommer, P. Gass, S. Bele +2 more
1996Journal of Cerebral Blood Flow and Metabolism26 citations Open access
Semantic Scholar
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
B. Yaldiz, Erdi Kucuk, J. Hampstead, T. Hofste +296 more
2023Human Genomics24 citations Open access
Semantic Scholar
Next-generation panel sequencing identifies NF1 germline mutations in three patients with pheochromocytoma but no clinical diagnosis of neurofibromatosis type 1.
L. Gieldon, J. Masjkur, S. Richter, R. Därr +12 more
2018European Journal of Endocrinology24 citations Open access
Semantic Scholar
A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring
A. Rump, Laura Hildebrand, A. Tzschach, R. Ullmann +2 more
2012European Journal of Human Genetics24 citations Open access
Semantic Scholar
Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study
C. Meisel, C. E. Sadowski, D. Kohlstedt, K. Keller +9 more
2017Archives of Gynecology and Obstetrics21 citations
Semantic Scholar
A child with Li–Fraumeni syndrome: Modes to inactivate the second allele of TP53 in three different malignancies
B. Schlegelberger, H. Kreipe, U. Lehmann, D. Steinemann +6 more
2015Pediatric Blood & Cancer21 citations
Semantic Scholar
In acute leukemia, the polymorphism -211C>T in the promoter region of the multidrug resistance-associated protein 3 (MRP3) does not determine the expression level of the gene.
C. Doerfel, A. Rump, A. Sauerbrey, B. Gruhn +2 more
2006Pharmacogenetics & Genomics20 citations
Semantic Scholar

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A. Gehrig — researcher profile on SciRah

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