Mark J. Bowser

发表

Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.

Robert C. Green, Keith Marsolo, Casey Overby Taylor, 2019, American journal of human genetics.

The TSC1 Tumor Suppressor Hamartin Interacts with Neurofilament-L and Possibly Functions as a Novel Integrator of the Neuronal Cytoskeleton*

Mark J. Bowser, Vijaya Ramesh, L. A. Haddad, 2002, The Journal of Biological Chemistry.

Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology.

Sivakumar Gowrisankar, Heidi L Rehm, Birgit H Funke, 2014, The Journal of molecular diagnostics : JMD.

Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing

Birgit Funke, Matthew S. Lebo, Avni Santani, 2016, Genetics in Medicine.

Curating clinically relevant transcripts for the interpretation of sequence variants

Mark J. Bowser, Andrew R. Grant, Michael A. Gonzalez, 2018, bioRxiv.

Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants.

Mark J. Bowser, Andrew R. Grant, Michael A. Gonzalez, 2018, The Journal of molecular diagnostics : JMD.

Parvin-β Inhibits Breast Cancer Tumorigenicity and Promotes CDK9-Mediated Peroxisome Proliferator-Activated Receptor Gamma 1 Phosphorylation

Mark J. Bowser, J. Tobias, A. Rustgi, 2007, Molecular and Cellular Biology.

Overt cleft palate phenotype and TBX1 genotype correlations in velo‐cardio‐facial/DiGeorge/22q11.2 deletion syndrome patients

Mark J. Bowser, Jonathan H. Chung, E. Zackai, 2012, American journal of medical genetics. Part A.

Abstract. Parental imprinting of differentially methylated regions (DMRs) contributes to appropriate expression of several developmentally important genes from paternally or maternally derived chromosomes. Rhabdomyosarcoma (RMS) is the most common soft-tissue sarcoma in children and is asso- ciated

Mark J. Bowser, Dong-Myung Shin, M. Ratajczak, 2013 .

PRR5 encodes a conserved proline-rich protein predominant in kidney: analysis of genomic organization, expression, and mutation status in breast and colorectal carcinomas.

Mark J. Bowser, A. Rustgi, A. Castells, 2005, Genomics.

Coordinated functions of E-cadherin and transforming growth factor beta receptor II in vitro and in vivo.

Mark J. Bowser, M. Herlyn, A. Rustgi, 2006, Cancer research.

The paternally imprinted DLK1-GTL2 locus is differentially methylated in embryonal and alveolar rhabdomyosarcomas

Mark J. Bowser, Dong-Myung Shin, M. Ratajczak, 2013, International journal of oncology.

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing

Sivakumar Gowrisankar, Matthew S. Lebo, Heidi L. Rehm, 2014, Genetics in Medicine.

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo‐cardio‐facial/digeorge/22q11.2 deletion syndrome patients

Mark J. Bowser, Jonathan H. Chung, E. Zackai, 2011, Human mutation.

Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing–based diagnostic testing and interpretation

Heidi L Rehm, Ahmad N Abou Tayoun, Birgit H Funke, 2015, Genetics in Medicine.

VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data

Birgit Funke, Sivakumar Gowrisankar, Matthew S. Lebo, 2015, Genetics in Medicine.

N-Cadherin and Keratinocyte Growth Factor Receptor Mediate the Functional Interplay between Ki-RASG12V and p53V143A in Promoting Pancreatic Cell Migration, Invasion, and Tissue Architecture Disruption

Mark J. Bowser, R. Weissleder, A. Rustgi, 2006, Molecular and Cellular Biology.

Targeted Droplet‐Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus

Mark J. Bowser, H. Rehm, B. Funke, 2016, Human mutation.

Next generation sequencing‐based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies

Matthew S. Lebo, Mark J. Bowser, Trevor J Pugh, 2015, Molecular genetics & genomic medicine.

Alternative splicing in protein associated with Myc (Pam) influences its binding to c‐Myc

Mark J. Bowser, Túlio Marcos Santos, P. Bhide, 2006, Journal of neuroscience research.

IMP-1 displays cross-talk with K-Ras and modulates colon cancer cell survival through the novel proapoptotic protein CYFIP2.

Mark J. Bowser, A. Rustgi, A. Castells, 2011, Cancer research.

Molecular and Cellular Pathobiology IMP-1 Displays Cross-Talk with KRas and Modulates Colon Cancer Cell Survival through the Novel Proapoptotic Protein CYFIP 2

Mark J. Bowser, A. Rustgi, A. Castells, 2011 .

Commercially available blocking oligonucleotides effectively suppress unwanted hemolysis related miRNAs in a large whole blood RNA cohort.

Mark J. Bowser, A. Kho, C. Hersh, 2021, The Journal of molecular diagnostics : JMD.

EGFR-induced cell migration is mediated predominantly by the JAK-STAT pathway in primary esophageal keratinocytes.

Mark J. Bowser, Hiroshi Nakagawa, A. Rustgi, 2004, American journal of physiology. Gastrointestinal and liver physiology.

Validation and implementation of whole-exome sequencing bioinformatics processes for clinical applications

Birgit Funke, Himanshu Sharma, Matthew S. Lebo, 2014, BCB.

A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients.

Mark J. Bowser, E. Zackai, B. Morrow, 2013, International journal of pediatric otorhinolaryngology.