Lista de obras - Andreas Rump - Dominio Público Uruguay

A child with Li-Fraumeni syndrome: Modes to inactivate the second allele of TP53 in three different malignancies.

artículo científico publicado en 2015

A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E.

artículo científico publicado en 2009

A frameshift mutation in BRCA1 leads to hereditary breast and ovarian cancer in one part of a family and to familial pancreatic cancer in another.

artículo científico publicado en 2017

A high-resolution genetic, physical, and comparative gene map of the doublefoot (Dbf) region of mouse chromosome 1 and the region of conserved synteny on human chromosome 2q35.

artículo científico publicado en 2001

A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation.

artículo científico publicado en 2011

A misplaced lncRNA causes brachydactyly in humans

artículo científico publicado en 2012

A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring

artículo científico publicado en 2012

A new autosomal dominant syndrome of distinctive face showing ptosis and prominent eyes associated with cleft palate, ear anomalies, and learning disability

A splice-supporting intronic mutation in the last bp position of a cryptic exon within intron 6 of the CYBB gene induces its incorporation into the mRNA causing chronic granulomatous disease (CGD).

artículo científico publicado en 2006

An unusual case of Cowden syndrome associated with ganglioneuromatous polyposis

artículo científico publicado en 2016

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.

artículo científico publicado en 2018

Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

artículo científico publicado en 2018

BRCA1/2 missense mutations and the value of in-silico analyses

artículo científico publicado en 2017

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

artículo científico publicado en 2014

Basal cell nevus syndrome and dysplastic nevus syndrome: investigation of gene expression by differential hybridization

artículo científico publicado en 1996

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

artículo científico publicado en 2022

Cancer Risks Associated With and Pathogenic Variants

artículo científico publicado en 2022

Case Report: ANXA2 Associated Life-Threatening Coagulopathy With Hyperfibrinolysis in a Patient With Non-APL Acute Myeloid Leukemia

publication published on 15 April 2021

Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus

article

Comparative genome sequence analysis of the Bpa/Str region in mouse and Man

artículo científico publicado en 2000

Complex arrangement of genes within a 220-kb region of double-duplicated DNA on human 2q37.1.

artículo científico publicado en 2001

Comprehensive molecular characterization of multifocal glioblastoma proves its monoclonal origin and reveals novel insights into clonal evolution and heterogeneity of glioblastomas

artículo científico publicado en 2017

Correction: Diagnostic value of partial exome sequencing in developmental disorders

scientific article published on 24 September 2020

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

scientific article published on 21 April 2020

Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31

scientific journal article

Diagnostic value of partial exome sequencing in developmental disorders

artículo científico publicado en 2018

Different structural organization of the encephalopsin gene in man and mouse

artículo científico publicado en 2002

Editing of GluR2 RNA in the gerbil hippocampus after global cerebral ischemia

artículo científico publicado en 1996

Elevated DNA sequence diversity in the genomic region of the phosphatase PPP2R3L gene in the human pseudoautosomal region

artículo científico publicado en 2000

Expression levels of the putative zinc transporter LIV-1 are associated with a better outcome of breast cancer patients

artículo científico publicado en 2005

Expression of mouse Tbx22 supports its role in palatogenesis and glossogenesis

artículo científico publicado en 2003

Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern

artículo científico publicado en 2017

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

artículo científico publicado en 2018

Gene structure and regulation of the murine epithelial calcium channels ECaC1 and 2

artículo científico publicado en 2001

Genetic and genomic studies of pathogenic EXOSC2 mutations in the newly described disease SHRF implicate the autophagy pathway in disease pathogenesis

scientific article published on 01 March 2020

HBOC multi-gene panel testing: comparison of two sequencing centers

artículo científico publicado en 2015

High-resolution analysis of chromosomal imbalances using the Affymetrix 10K SNP genotyping chip

artículo científico publicado en 2005

Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum".

artículo científico publicado en 2015

Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.

artículo científico publicado en 2016

Identification and characterization of CaApe2--a neutral arginine/alanine/leucine-specific metallo-aminopeptidase from Candida albicans

artículo científico publicado en 2008

Identification of a set of seven genes for the monitoring of minimal residual disease in pediatric acute myeloid leukemia

artículo científico

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

article

Initial sequencing and analysis of the human genome

artículo científico publicado en 2001

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

artículo científico publicado en 2019

Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: Alternative definition and further delineation of MOMO syndrome

artículo científico publicado en 2012

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

scientific journal article

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.

artículo científico publicado en 2016

New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy

artículo científico publicado en 2017

Next-generation panel sequencing identifies NF1 germline mutations in three patients with pheochromocytoma but no clinical diagnosis of neurofibromatosis type 1.

artículo científico publicado en 2017

Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I.

artículo científico publicado en 2016

Novel CIC point mutations and an exon-spanning, homozygous deletion identified in oligodendroglial tumors by a comprehensive genomic approach including transcriptome sequencing

artículo científico publicado en 2013

Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies.

artículo científico publicado en 2017

Novel dominant-negative NR2F1 frameshift mutation and a phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome

artículo científico publicado en 2020

Novel truncating PPM1D mutation in a patient with intellectual disability

artículo científico publicado en 2018

Nucleotide sequence of a 24,206-base-pair DNA fragment carrying the entire nitrogen fixation gene cluster of Klebsiella pneumoniae

artículo científico publicado en 1988

Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches

scientific article published on 11 June 2019

Partial deletion of GLRB and GRIA2 in a patient with intellectual disability

artículo científico publicado en 2012

Performance of breast cancer polygenic risk scores in 760 female CHEK2 germline mutation carriers

artículo científico publicado en 2020

Pierpont syndrome: report of a new patient.

artículo científico publicado en 2017

Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer

artículo científico publicado en 2022

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

artículo científico publicado en 1997

RUMMAGE – a high-throughput sequence annotation system

artículo científico publicado en 2000

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

artículo científico publicado en 2012

Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH.

artículo científico publicado en 2016

Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations

artículo científico publicado en 2014

Severe intellectual disability, West syndrome, Dandy-Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3

article by Karl Hackmann et al published December 2013 in American Journal of Medical Genetics

Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.

artículo científico publicado en 2017

Small reciprocal insertion detected by spectral karyotyping (SKY) and delimited by array-CGH analysis

artículo científico publicado en 2005

Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study

artículo científico publicado en 2017

Tandem arrangement of tRNA(Asp)-encoding genes in Phytophthora spp.

artículo científico publicado en 1991

Targeted capture-based NGS is superior to multiplex PCR-based NGS for hereditary BRCA1 and BRCA2 gene analysis in FFPE tumor samples

article

Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?

artículo científico publicado en 2015

The DNA sequence of human chromosome 21

artículo científico publicado en 2000

The contribution of homology arms to nuclease-assisted genome engineering.

artículo científico publicado en 2017

Thrombocytopenia Microcephaly Syndrome - a novel phenotype associated with ACTB mutations

Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.

artículo científico publicado en 2016

Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

scientific article published in Nature Communications

Lista de obras de Andreas Rump

A child with Li-Fraumeni syndrome: Modes to inactivate the second allele of TP53 in three different malignancies.

A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E.

A frameshift mutation in BRCA1 leads to hereditary breast and ovarian cancer in one part of a family and to familial pancreatic cancer in another.

A high-resolution genetic, physical, and comparative gene map of the doublefoot (Dbf) region of mouse chromosome 1 and the region of conserved synteny on human chromosome 2q35.

A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation.

A misplaced lncRNA causes brachydactyly in humans

A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring

A new autosomal dominant syndrome of distinctive face showing ptosis and prominent eyes associated with cleft palate, ear anomalies, and learning disability

A splice-supporting intronic mutation in the last bp position of a cryptic exon within intron 6 of the CYBB gene induces its incorporation into the mRNA causing chronic granulomatous disease (CGD).

An unusual case of Cowden syndrome associated with ganglioneuromatous polyposis

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.

Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

BRCA1/2 missense mutations and the value of in-silico analyses

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

Basal cell nevus syndrome and dysplastic nevus syndrome: investigation of gene expression by differential hybridization

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

Cancer Risks Associated With and Pathogenic Variants

Case Report: ANXA2 Associated Life-Threatening Coagulopathy With Hyperfibrinolysis in a Patient With Non-APL Acute Myeloid Leukemia

Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus

Comparative genome sequence analysis of the Bpa/Str region in mouse and Man

Complex arrangement of genes within a 220-kb region of double-duplicated DNA on human 2q37.1.

Comprehensive molecular characterization of multifocal glioblastoma proves its monoclonal origin and reveals novel insights into clonal evolution and heterogeneity of glioblastomas

Correction: Diagnostic value of partial exome sequencing in developmental disorders

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

Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31

Diagnostic value of partial exome sequencing in developmental disorders

Different structural organization of the encephalopsin gene in man and mouse

Editing of GluR2 RNA in the gerbil hippocampus after global cerebral ischemia

Elevated DNA sequence diversity in the genomic region of the phosphatase PPP2R3L gene in the human pseudoautosomal region

Expression levels of the putative zinc transporter LIV-1 are associated with a better outcome of breast cancer patients

Expression of mouse Tbx22 supports its role in palatogenesis and glossogenesis

Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern

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

Gene structure and regulation of the murine epithelial calcium channels ECaC1 and 2

Genetic and genomic studies of pathogenic EXOSC2 mutations in the newly described disease SHRF implicate the autophagy pathway in disease pathogenesis

HBOC multi-gene panel testing: comparison of two sequencing centers

High-resolution analysis of chromosomal imbalances using the Affymetrix 10K SNP genotyping chip

Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum".

Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.

Identification and characterization of CaApe2--a neutral arginine/alanine/leucine-specific metallo-aminopeptidase from Candida albicans

Identification of a set of seven genes for the monitoring of minimal residual disease in pediatric acute myeloid leukemia

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

Initial sequencing and analysis of the human genome

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: Alternative definition and further delineation of MOMO syndrome

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

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.

New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy

Next-generation panel sequencing identifies NF1 germline mutations in three patients with pheochromocytoma but no clinical diagnosis of neurofibromatosis type 1.

Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I.

Novel CIC point mutations and an exon-spanning, homozygous deletion identified in oligodendroglial tumors by a comprehensive genomic approach including transcriptome sequencing

Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies.

Novel dominant-negative NR2F1 frameshift mutation and a phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome

Novel truncating PPM1D mutation in a patient with intellectual disability

Nucleotide sequence of a 24,206-base-pair DNA fragment carrying the entire nitrogen fixation gene cluster of Klebsiella pneumoniae

Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches

Partial deletion of GLRB and GRIA2 in a patient with intellectual disability

Performance of breast cancer polygenic risk scores in 760 female CHEK2 germline mutation carriers

Pierpont syndrome: report of a new patient.

Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

RUMMAGE – a high-throughput sequence annotation system

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH.

Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations

Severe intellectual disability, West syndrome, Dandy-Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3

Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.

Small reciprocal insertion detected by spectral karyotyping (SKY) and delimited by array-CGH analysis

Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study

Tandem arrangement of tRNA(Asp)-encoding genes in Phytophthora spp.

Targeted capture-based NGS is superior to multiplex PCR-based NGS for hereditary BRCA1 and BRCA2 gene analysis in FFPE tumor samples

Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?

The DNA sequence of human chromosome 21

The contribution of homology arms to nuclease-assisted genome engineering.

Thrombocytopenia Microcephaly Syndrome - a novel phenotype associated with ACTB mutations

Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.

Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia