List of works - Esa Pitkänen

3'-UTR poly(T/U) repeat of EWSR1 is altered in microsatellite unstable colorectal cancer with nearly perfect sensitivity.

scientific article published in May 2015

A Unified Review of Deep Learning for Automated Medical Coding

scientific article published on 17 May 2024

CTCF/cohesin-binding sites are frequently mutated in cancer

scientific article published on 8 June 2015

Characterization of uterine leiomyomas by whole-genome sequencing.

scientific article published on 5 June 2013

Clonally related uterine leiomyomas are common and display branched tumor evolution

scientific article published on 10 May 2015

Comparative genome-scale reconstruction of gapless metabolic networks for present and ancestral species

scientific article (publication date: February 2014)

Comprehensive Evaluation of Protein Coding Mononucleotide Microsatellites in Microsatellite-Unstable Colorectal Cancer

scientific article published on 13 June 2017

Comprehensive evaluation of coding region point mutations in microsatellite‐unstable colorectal cancer

scientific article published on 14 August 2018

Contribution of allelic imbalance to colorectal cancer

scientific article published in Nature Communications

Detection of subclonal L1 transductions in colorectal cancer by long-distance inverse-PCR and Nanopore sequencing

scientific article published on 6 November 2017

Discovery of potential causative mutations in human coding and noncoding genome with the interactive software BasePlayer

scientific article published on 01 November 2018

ERCC6L2 defines a novel entity within inherited acute myeloid leukemia

scientific article published on 01 April 2019

Eleven candidate susceptibility genes for common familial colorectal cancer

scientific article

Exome and immune cell score analyses reveal great variation within synchronous primary colorectal cancers

scientific article published on 21 March 2019

Exome sequencing reveals frequent inactivating mutations in ARID1A, ARID1B, ARID2 and ARID4A in microsatellite unstable colorectal cancer

scientific article published on 13 January 2014

Exome-wide somatic mutation characterization of small bowel adenocarcinoma.

scientific article published on 9 March 2018

Frequent L1 retrotranspositions originating from TTC28 in colorectal cancer.

scientific article published on February 2014

Germline alterations in a consecutive series of acute myeloid leukemia

scientific article published on 10 April 2018

Global metabolomic profiling of uterine leiomyomas.

scientific article

Identification of 33 candidate oncogenes by screening for base-specific mutations.

scientific article

Impact of AIP and inhibitory G protein alpha 2 proteins on clinical features of sporadic GH-secreting pituitary adenomas.

scientific article published in February 2017

Inferring branching pathways in genome-scale metabolic networks

scientific article

Integrated data analysis reveals uterine leiomyoma subtypes with distinct driver pathways and biomarkers

scientific article

MED12 mutation frequency in unselected sporadic uterine leiomyomas.

scientific article published on 6 August 2014

MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas.

scientific article published on 17 May 2016

Molecular features encoded in the ctDNA reveal heterogeneity and predict outcome in high-risk aggressive B-cell lymphoma

scientific article published in 2022

Multiple clinical characteristics separate MED12-mutation-positive and -negative uterine leiomyomas.

scientific article

Somatic MED12 Nonsense Mutation Escapes mRNA Decay and Reveals a Motif Required for Nuclear Entry

scientific article

The Glanville fritillary genome retains an ancient karyotype and reveals selective chromosomal fusions in Lepidoptera

scientific article

Towards pan-genome read alignment to improve variation calling.

scientific article

Towards structured output prediction of enzyme function

scientific article

Whole-Genome Sequencing of Growth Hormone (GH)-Secreting Pituitary Adenomas.

scientific article published on 17 August 2015

Whole-exome sequencing identifies novel candidate predisposition genes for familial polycythemia vera

scientific article

Whole-genome metabolic model of Trichoderma reesei built by comparative reconstruction

scientific article published on 21 November 2016

List of works by Esa Pitkänen

3'-UTR poly(T/U) repeat of EWSR1 is altered in microsatellite unstable colorectal cancer with nearly perfect sensitivity.

A Unified Review of Deep Learning for Automated Medical Coding

CTCF/cohesin-binding sites are frequently mutated in cancer

Characterization of uterine leiomyomas by whole-genome sequencing.

Clonally related uterine leiomyomas are common and display branched tumor evolution

Comparative genome-scale reconstruction of gapless metabolic networks for present and ancestral species

Comprehensive Evaluation of Protein Coding Mononucleotide Microsatellites in Microsatellite-Unstable Colorectal Cancer

Comprehensive evaluation of coding region point mutations in microsatellite‐unstable colorectal cancer

Contribution of allelic imbalance to colorectal cancer

Detection of subclonal L1 transductions in colorectal cancer by long-distance inverse-PCR and Nanopore sequencing

Discovery of potential causative mutations in human coding and noncoding genome with the interactive software BasePlayer

ERCC6L2 defines a novel entity within inherited acute myeloid leukemia

Eleven candidate susceptibility genes for common familial colorectal cancer

Exome and immune cell score analyses reveal great variation within synchronous primary colorectal cancers

Exome sequencing reveals frequent inactivating mutations in ARID1A, ARID1B, ARID2 and ARID4A in microsatellite unstable colorectal cancer

Exome-wide somatic mutation characterization of small bowel adenocarcinoma.

Frequent L1 retrotranspositions originating from TTC28 in colorectal cancer.

Germline alterations in a consecutive series of acute myeloid leukemia

Global metabolomic profiling of uterine leiomyomas.

Identification of 33 candidate oncogenes by screening for base-specific mutations.

Impact of AIP and inhibitory G protein alpha 2 proteins on clinical features of sporadic GH-secreting pituitary adenomas.

Inferring branching pathways in genome-scale metabolic networks

Integrated data analysis reveals uterine leiomyoma subtypes with distinct driver pathways and biomarkers

MED12 mutation frequency in unselected sporadic uterine leiomyomas.

MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas.

Molecular features encoded in the ctDNA reveal heterogeneity and predict outcome in high-risk aggressive B-cell lymphoma

Multiple clinical characteristics separate MED12-mutation-positive and -negative uterine leiomyomas.

Somatic MED12 Nonsense Mutation Escapes mRNA Decay and Reveals a Motif Required for Nuclear Entry

The Glanville fritillary genome retains an ancient karyotype and reveals selective chromosomal fusions in Lepidoptera

Towards pan-genome read alignment to improve variation calling.

Towards structured output prediction of enzyme function

Whole-Genome Sequencing of Growth Hormone (GH)-Secreting Pituitary Adenomas.

Whole-exome sequencing identifies novel candidate predisposition genes for familial polycythemia vera

Whole-genome metabolic model of Trichoderma reesei built by comparative reconstruction