Jacek Majewski

发表

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Daniel Nilsson, Peter Szolovits, Karen Eilbeck, 2014, Genome Biology.

LoLoPicker: Detecting Low Allelic-Fraction Variants in Low-Quality Cancer Samples

Jacek Majewski, Jian Carrot-Zhang, J. Majewski, 2016, bioRxiv.

ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide Variants.

Jacek Majewski, Toby Dylan Hocking, Najmeh Alirezaie, 2018, American journal of human genetics.

Comment on “Widespread RNA and DNA Sequence Differences in the Human Transcriptome”

Jacek Majewski, Claudia L. Kleinman, J. Majewski, 2012, Science.

What can exome sequencing do for you?

Nada Jabado, Emilie Lalonde, Jacek Majewski, 2011, Journal of Medical Genetics.

Dependence of mutational asymmetry on gene-expression levels in the human genome.

Jacek Majewski, J. Majewski, 2003, American journal of human genetics.

Nucleotide frequency variation across human genes.

Jurg Ott, Jacek Majewski, J. Ott, 2003, Genome research.

Amino acid substitutions in the human genome: evolutionary implications of single nucleotide polymorphisms.

Jurg Ott, Jacek Majewski, J. Ott, 2003, Gene.

Exome profiling of primary, metastatic and recurrent ovarian carcinomas in a BRCA1-positive patient

Emilie Lalonde, Jian Zhang, Jacek Majewski, 2013, BMC Cancer.

Fine-Scale Variation and Genetic Determinants of Alternative Splicing across Individuals

Jacek Majewski, Jasmin Coulombe-Huntington, J. Coulombe-Huntington, 2009, PLoS genetics.

Germline RECQL mutations are associated with breast cancer susceptibility

Aniruddh Kashyap, Jacek Majewski, Javad Nadaf, 2015, Nature Genetics.

LoLoPicker : Detecting Low-Fraction Variants in Low-Quality Cancer Samples from Whole-exome Sequencing Data

Jacek Majewski, J. Majewski, Jian Carrot-Zhang, 2016 .

LoLoPicker: detecting low allelic-fraction variants from low-quality cancer samples

Jacek Majewski, J. Majewski, Jian Carrot-Zhang, 2016, bioRxiv.

Evidence for codon bias selection at the pre-mRNA level in eukaryotes.

Jacek Majewski, J. Majewski, Erik Willie, 2004, Trends in genetics : TIG.

Fusion of TTYH1 with the C19MC microRNA cluster drives expression of a brain-specific DNMT3B isoform in the embryonal brain tumor ETMR

Nada Jabado, Maxime Caron, Jacek Majewski, 2013, Nature Genetics.

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit

Jacek Majewski, Olga Jarinova, Dennis E. Bulman, 2016, Canadian Medical Association Journal.

Gene Expression and Isoform Variation Analysis using Affymetrix Exon Arrays

Jacek Majewski, Tony Kwan, R. Jensen, 2008, BMC Genomics.

Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene.

Jacek Majewski, J. Ott, J. Majewski, 2003, American journal of human genetics.

Genome-wide analysis of transcript isoform variation in humans

Jacek Majewski, Thomas J Hudson, Patrick Beaulieu, 2008, Nature Genetics.

Spatial and temporal homogeneity of driver mutations in diffuse intrinsic pontine glioma

Keith L. Ligon, Nada Jabado, Roger J. Packer, 2016, Nature Communications.

The study of eQTL variations by RNA-seq: from SNPs to phenotypes.

Jacek Majewski, Tomi Pastinen, T. Pastinen, 2011, Trends in genetics : TIG.

Frequent ATRX mutations and loss of expression in adult diffuse astrocytic tumors carrying IDH1/IDH2 and TP53 mutations

Andrey Korshunov, Nada Jabado, David T. W. Jones, 2012, Acta Neuropathologica.

Heritability of alternative splicing in the human genome.

Harry Zuzan, Jacek Majewski, Tyson A. Clark, 2007, Genome research.

RNA sequencing reveals the role of splicing polymorphisms in regulating human gene expression.

Emilie Lalonde, Jacek Majewski, Tomi Pastinen, 2011, Genome research.

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.

Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Jacek Majewski, 2012, American journal of human genetics.

Global patterns of cis variation in human cells revealed by high-density allelic expression analysis

Mathieu Blanchette, Daniel Sinnett, Ken Dewar, 2009, Nature Genetics.

Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma

Roland Eils, Thomas Zichner, Hans Lehrach, 2013, Nature Genetics.

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

Dagmar Wieczorek, William B. Dobyns, Laurence Faivre, 2014, Nature Genetics.

Integrated (epi)-Genomic Analyses Identify Subgroup-Specific Therapeutic Targets in CNS Rhabdoid Tumors.

Mei Lu, Deena M A Gendoo, Gary D Bader, 2016, Cancer cell.

Distribution and characterization of regulatory elements in the human genome.

Jurg Ott, Jacek Majewski, J. Ott, 2002, Genome research.

RNA editing of protein sequences: a rare event in human transcriptomes.

Jacek Majewski, J. Majewski, C. Kleinman, 2012, RNA.

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.

Jay Shendure, Michael J Bamshad, Deborah A Nickerson, 2012, American journal of human genetics.

Effect of polymorphisms within probe–target sequences on olignonucleotide microarray experiments

Jacek Majewski, Tony Kwan, T. Kwan, 2008, Nucleic acids research.

Mutations in PIK3R1 cause SHORT syndrome.

Sahar Mansour, Kym M Boycott, Dennis E Bulman, 2013, American journal of human genetics.

Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma

Liliana Goumnerova, Nada Jabado, David T. W. Jones, 2014, Nature Genetics.

Mutations in NOTCH2 in families with Hajdu‐Cheney syndrome

Kym M Boycott, Jacek Majewski, Mark E Samuels, 2011, Human mutation.

Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next‐generation exome sequencing

Nada Jabado, Constantin Polychronakos, Emilie Lalonde, 2010, Human mutation.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Henning Gall, Fengyuan Hu, Kevin Rue-Albrecht, 2018, American journal of human genetics.