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List of works by Michael R. Speicher

9p21 Deletion in Primary Cutaneous Large B-Cell Lymphoma, Leg Type, May Escape Detection by Standard FISH Assays

scientific article published on 14 August 2008

A clinician's handbook for using ctDNA throughout the patient journey

publication published on 21 March 2022

A familial unbalanced subtelomeric translocation resulting in monosomy 6q27-->qter

scientific article published in April 2003

A higher ctDNA fraction decreases survival in regorafenib-treated metastatic colorectal cancer patients. Results from the regorafenib's liquid biopsy (RELAIS) translational biomarker phase II pilot study

scientific article published on 19 September 2020

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

scientific article

A multicolor FISH assay does not detect DUP25 in control individuals or in reported positive control cells

scientific article published on May 2003

A new strategy for the detection of subtelomeric rearrangements

scientific article

A strategy for the characterization of minute chromosome rearrangements using multiple color fluorescence in situ hybridization with chromosome-specific DNA libraries and YAC clones

scientific article published on December 1993

A survey of tools for variant analysis of next-generation genome sequencing data

scientific article

AcroM fluorescent in situ hybridization analyses of marker chromosomes

scientific article published on August 2001

Additional dark G-band in the p-arm of chromosome 19 due to a paracentric inversion with a breakpoint in the pericentromeric heterochromatin

scientific article published on 01 October 2001

Alterations of the cell-cycle inhibitors p27(KIP1) and p16(INK4a) are frequent in blastic plasmacytoid dendritic cell neoplasms

scientific article

An optimized probe set for the detection of small interchromosomal aberrations by use of 24-color FISH.

scientific article

An optimized, fully automated system for fast and accurate identification of chromosomal rearrangements by multiplex-FISH (M-FISH).

scientific article

Analysis of Gene Expression Patterns and Chromosomal Changes Associated with Aging

article

Analysis of chromosomal alterations in non-small cell lung cancer by multiplex-FISH, comparative genomic hybridization, and multicolor bar coding

scientific article published on July 2000

Assignment 1 of the gene encoding mannan-binding lectin-associated serine protease 2 (MASP2) to human chromosome 1p36.3→p36.2 by in situ hybridization and somatic cell hybrid analysis

article

Behaviour of human heterochromatic regions during the synapsis of homologous chromosomes

scientific article

Breakpoint within the nucleolus organizer region resulting in a reciprocal translocation t(4;14)(q21;p12)

scientific article published on 01 June 2000

Carcinogen-specific induction of genetic instability.

scholarly article

Cell-Free DNA and Apoptosis: How Dead Cells Inform About the Living

scientific article published on 17 February 2020

Cell-free DNA analysis reveals POLR1D-mediated resistance to bevacizumab in colorectal cancer

scientific article published on 22 February 2020

Changes in colorectal carcinoma genomes under anti-EGFR therapy identified by whole-genome plasma DNA sequencing.

scientific article

Characterization of all human male synaptonemal complexes by subtelomere multiplex-FISH

scientific article published on 01 January 2004

Characterization of circulating breast cancer cells with tumorigenic and metastatic capacity

scientific article published on 15 July 2020

Characterization of two marker chromosomes in a patient with acute nonlymphocytic leukemia by two-color fluorescence in situ hybridization

scientific article published on October 1993

Childhood-onset epileptic encephalopathy due to FGF12 exon 1-4 tandem duplication

scientific article published on 17 July 2020

Chromosomal bar codes produced by multicolor fluorescence in situ hybridization with multiple YAC clones and whole chromosome painting probes

scientific article published on May 1993

Chromosomal translocations are associated with poor prognosis in chronic lymphocytic leukemia

scientific article published on 22 September 2005

Circulating tumor cells and DNA as liquid biopsies.

scientific article published on 23 August 2013

Classification accuracy in multiple color fluorescence imaging microscopy

scientific article published in October 2000

Classifying by colors: FISH-based genome analysis.

scientific article

Clinicopathologic and molecular features in cutaneous extranodal natural killer-/T-cell lymphoma, nasal type, with aggressive and indolent course

scientific article published on 14 January 2014

Co-occurrence of MYC amplification and TP53 mutations in human cancer

scientific article published in January 2016

Comparative genomic hybridization, loss of heterozygosity, and DNA sequence analysis of single cells

scientific article

Comparison of three commercial decision support platforms for matching of next-generation sequencing results with therapies in patients with cancer

scientific article published on 01 September 2020

Complete and pure trisomy 18p due to a complex chromosomal rearrangement in a male adult with mild intellectual disability

scientific article published on 21 May 2013

Complete karyotype characterization of the K562 cell line by combined application of G-banding, multiplex-fluorescence in situ hybridization, fluorescence in situ hybridization, and comparative genomic hybridization

scientific article published on April 2001

Complex tumor genomes inferred from single circulating tumor cells by array-CGH and next-generation sequencing

scientific article

Comprehensive Screening for Lynch Syndrome: Who Can Be the Driving Force in Daily Clinical Practice?

scientific article published on 23 March 2009

Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide

scientific article published on 01 December 2018

Conjunctival melanomas harbor BRAF and NRAS mutations and copy number changes similar to cutaneous and mucosal melanomas

scientific article published on 30 April 2013

Crossover frequency and synaptonemal complex length: their variability and effects on human male meiosis

scientific article

Defining 'chromosomal instability'.

scientific article

Delineation of a 2q deletion in a girl with dysmorphic features and epilepsy

scientific article published in April 2006

Delineation of translocation t(15; 17) in acute promyelocytic leukemia by chromosomal in situ suppression hybridization

scientific article published on April 1993

Detection and Characterization of Circulating Tumor Cells in Patients with Merkel Cell Carcinoma

scientific article published on 09 January 2019

Detection of a germline mutation and somatic homozygous loss of the von Hippel-Lindau tumor-suppressor gene in a family with a de novo mutation. A combined genetic study, including cytogenetics, PCR/SSCP, FISH, and CGH.

scientific article published in June 1996

Digital Circulating Tumor Cell Analyses for Prostate Cancer Precision Oncology.

scientific article published in March 2018

Digital karyotyping

scientific article

Digital karyotyping reveals frequent inactivation of the dystrophin/DMD gene in malignant melanoma

scientific article

Disruption of Trp53 in livers of mice induces formation of carcinomas with bilineal differentiation

scientific article published on 15 February 2012

Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability

scientific article

Effect of genome-wide association studies, direct-to-consumer genetic testing, and high-speed sequencing technologies on predictive genetic counselling for cancer risk

scientific article

Emerging concepts in liquid biopsies

scientific article

Establishment of tumor-specific copy number alterations from plasma DNA of patients with cancer.

scientific article

Evolution of genomic instability in diethylnitrosamine-induced hepatocarcinogenesis in mice.

scientific article

Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3).

scientific article

First non-mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter → q22.1::q22.1 → pter) Is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q− syndrome

scientific article published on 01 May 2004

Functional Network Pipeline Reveals Genetic Determinants Associated with in Situ Lymphocyte Proliferation and Survival of Cancer Patients

article

Further evidence for the pathogenicity of 15q24 microduplications distal to the minimal critical regions

article

Generation of chromosome painting probes from single chromosomes by laser microdissection and linker-adaptor PCR.

scientific article published in January 2004

Genome-Wide Analysis of the Nucleosome Landscape in Individuals with Coffin-Siris Syndrome

scientific article published on 26 October 2019

Genomic alterations in plasma DNA from patients with metastasized prostate cancer receiving abiraterone or enzalutamide

scientific article published on 25 March 2018

Genomic profiling of viable and proliferative micrometastatic cells from early-stage breast cancer patients

scientific article published in May 2004

Germline mutations in BAP1 predispose to melanocytic tumors

scientific article

Germline mutations in the DNA damage response genes BRCA1, BRCA2, BARD1 and TP53 in patients with therapy related myeloid neoplasms.

scientific article

Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X.

scientific article

Heritable translocations induced by dermal exposure of male mice to acrylamide

scientific article published on January 2004

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

scientific article published on 12 January 2013

Heterogeneous proliferative potential of occult metastatic cells in bone marrow of patients with solid epithelial tumors

scientific article

High resolution array-CGH analysis of single cells

scientific article

High-resolution analyses of copy number changes in disseminated tumor cells of patients with breast cancer

scientific article published on 9 November 2011

High-resolution analysis of alterations in medullary thyroid carcinoma genomes

scientific article

High-resolution genomic profiling of occult micrometastatic tumor cells

scientific article published on February 2003

Humanized large-scale expanded endothelial colony-forming cells function in vitro and in vivo.

scientific article published on 25 March 2009

Hybridize and personalize: the new age of syndromal mental retardation diagnostics

scientific article published in March 2007

Hyper-recombination and genetic instability in BLM-deficient epithelial cells

scientific article published on December 2003

Identification of small gains and losses in single cells after whole genome amplification on tiling oligo arrays

scientific article published on 18 June 2009

Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1.

scientific article published on October 2007

Induction of chromosomal aberrations by dacarbazine in somatic and germinal cells of mice

scientific article published in September 2002

Inference of transcription factor binding from cell-free DNA enables tumor subtype prediction and early detection

scientific article published on 11 October 2019

Inferring expressed genes by whole-genome sequencing of plasma DNA.

scientific article published on 29 August 2016

Inheritance of gene density-related higher order chromatin arrangements in normal and tumor cell nuclei

scientific article published on September 2003

Integrative Analyses of Colorectal Cancer Show Immunoscore Is a Stronger Predictor of Patient Survival Than Microsatellite Instability

scientific article

Karyotyping human chromosomes by combinatorial multi-fluor FISH.

scientific article published on April 1996

Karyotyping mouse chromosomes by multiplex-FISH (M-FISH).

scientific article published on January 2001

Live cell catapulting and recultivation does not change the karyotype of HCT116 tumor cells

scientific article published in September 2005

Loss of adipose triglyceride lipase is associated with human cancer and induces mouse pulmonary neoplasia

scientific article published on 17 May 2016

Male and female mice derived from the same embryonic stem cell clone by tetraploid embryo complementation

scientific article

Mapping of balanced chromosome translocation breakpoints to the basepair level from microdissected chromosomes.

scientific article

Micro-array analyses decipher exceptional complex familial chromosomal rearrangement

scientific article published on 03 January 2006

Molecular cytogenetics and multiplex reverse-transcriptase polymerase chain reaction for risk stratification in acute myeloid leukemia

scientific article

Monosomy 1p36--a recently delineated, clinically recognizable syndrome

scientific article published on January 2002

Mosaicism for a dup(12)(q22q13) in a patient with hypomelanosis of Ito and asymmetry

scientific article published in October 2000

Multicenter Evaluation of Circulating Cell-Free DNA Extraction and Downstream Analyses for the Development of Standardized (Pre)analytical Work Flows

scientific article published on 18 October 2019

Multicolor FISH in two and three dimensions for clastogenic analyses

scientific article

Multicolor chromosome painting in diagnostic and research applications

scientific article published on January 2004

Multicolor deconvolution microscopy of thick biological specimens

scientific article

Multiplex genetic cancer testing identifies pathogenic mutations in TP53 and CDH1 in a patient with bilateral breast and endometrial adenocarcinoma

scientific article

Multiplex-FISH for pre- and postnatal diagnostic applications

scientific article

Multiplex-fluorescence in situ hybridization for chromosome karyotyping

scientific article published on January 2006

Mutations in GNA11 in uveal melanoma

scientific article

New concepts to improve resolution and sensitivity of molecular cytogenetic diagnostics by multicolor fluorescence in situ hybridization

scientific article published on May 2001

Non-invasive detection of genome-wide somatic copy number alterations by liquid biopsies

scientific article

Novel phenotypes observed in patients with ETV6-linked leukaemia/familial thrombocytopenia syndrome and a biallelic ARID5B risk allele as leukaemogenic cofactor

scientific article published on 08 November 2019

Order of genetic events is critical determinant of aberrations in chromosome count and structure

scientific article published on August 2004

PTEN action in leukaemia dictated by the tissue microenvironment

scientific article

Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome

scientific article published in May 2003

Patient monitoring through liquid biopsies using circulating tumor DNA.

scientific article published on 3 May 2017

Persistence of DNA threads in human anaphase cells suggests late completion of sister chromatid decatenation

scientific article published on 8 November 2007

Pheochromocytoma in a 2.75-year-old-girl with a germline von Hippel-Lindau mutation Q164R

scientific article published on 01 July 2010

Predictive diagnosis of the cancer prone Li-Fraumeni syndrome by accident: new challenges through whole genome array testing.

scientific article published on 05 March 2009

Preexisting TP53 mutation in therapy-related acute myeloid leukemia

scientific article published on 20 August 2014

Publisher Correction: Inference of transcription factor binding from cell-free DNA enables tumor subtype prediction and early detection

scientific article published on 20 April 2020

Puma and p21 represent cooperating checkpoints limiting self-renewal and chromosomal instability of somatic stem cells in response to telomere dysfunction.

scientific article published on 4 December 2011

Quantitative analysis of comparative genomic hybridization

scientific article published on January 1995

Radial chromatin positioning is shaped by local gene density, not by gene expression

scientific article published on 27 February 2007

Rapid Identification of Plasma DNA Samples with Increased ctDNA Levels by a Modified FAST-SeqS Approach.

scientific article

Rapid identification of homologous recombinants and determination of gene copy number with reference/query pyrosequencing (RQPS)

scientific article published on October 2009

Retroviral insertional mutagenesis identifies RUNX genes involved in chronic myeloid leukemia disease persistence under imatinib treatment

scholarly article

Risk estimates for carriers of chromosome reciprocal translocation t(4;9)(p15.2;p13)

article

Searching for cancer vulnerabilities amid genetic chaos.

scientific article published on 3 August 2017

Securin is not required for chromosomal stability in human cells

scientific article

Sequential application of interphase-FISH and CGH to single cells

scientific article

Seven-fluorochrome mouse M-FISH for high-resolution analysis of interchromosomal rearrangements

scientific article published on January 2003

Shallow Whole-Genome Sequencing from Plasma Identifies FGFR1 Amplified Breast Cancers and Predicts Overall Survival

scientific article published on 06 June 2020

Single tube liquid biopsy for advanced non-small cell lung cancer

scientific article published on 28 January 2019

Single-Stranded DNA Library Preparation Does Not Preferentially Enrich Circulating Tumor DNA.

scientific article

Single-cell analysis: toward the clinic

scientific article

Single-cell isolation from cell suspensions and whole genome amplification from single cells to provide templates for CGH analysis

scientific article

Spatiotemporal dynamics of intratumoral immune cells reveal the immune landscape in human cancer.

scientific article

Spongious hypertrophic cardiomyopathy in patients with mutations in the four-and-a-half LIM domain 1 gene

scientific article published on 25 August 2012

Subtelomeric chromosome rearrangements are detected using an innovative 12-color FISH assay (M-TEL)

scientific article published on 01 April 2001

Targeted inactivation of p53 in human cells does not result in aneuploidy

scientific article published on 01 February 2002

Targeted massively parallel sequencing of angiosarcomas reveals frequent activation of the mitogen activated protein kinase pathway

scientific article published on 30 September 2015

Technical Evaluation of Commercial Mutation Analysis Platforms and Reference Materials for Liquid Biopsy Profiling

scientific article published on 16 June 2020

Telomerase abrogates aneuploidy-induced telomere replication stress, senescence and cell depletion.

scientific article published on 27 March 2015

Tetrasomy 21pter-->q21.2 in a male infant without typical Down's syndrome dysmorphic features but moderate mental retardation

scientific article published in March 2004

The biology of circulating tumor cells

scientific article published on 08 June 2015

The coloring of cytogenetics

scientific article published on September 1996

The dynamic range of circulating tumor DNA in metastatic breast cancer

scientific article

The new cytogenetics: blurring the boundaries with molecular biology

scientific article

The potential of liquid biopsies for the early detection of cancer.

scientific article published on 17 October 2017

The tumor microenvironment and Immunoscore are critical determinants of dissemination to distant metastasis.

scientific article

Three-dimensional maps of all chromosomes in human male fibroblast nuclei and prometaphase rosettes

scientific article published on 26 April 2005

Three-dimensional reconstruction of painted human interphase chromosomes: active and inactive X chromosome territories have similar volumes but differ in shape and surface structure

scientific article

Toward an Improved Definition of the Tumor Spectrum Associated WithBAP1Germline Mutations

scientific article published on 01 October 2012

Towards many colors in FISH on 3D-preserved interphase nuclei.

scientific article published in January 2006

Tumor-associated copy number changes in the circulation of patients with prostate cancer identified through whole-genome sequencing.

scientific article published on 05 April 2013

Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome

scientific article published on February 2008

Whole-genome plasma sequencing reveals focal amplifications as a driving force in metastatic prostate cancer.

scientific article published on 22 June 2016

cDNA cloning, chromosome assignment, and genomic structure of a human gene encoding a novel member of the RBM family.

scientific article

p53 deletion impairs clearance of chromosomal-instable stem cells in aging telomere-dysfunctional mice

article published in 2009

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